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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▼
P48736	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	PIK3CG	2	1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell adult acute lymphocytic leukemia B-cell lymphoma Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma CAKUT CD40 ligand deficiency Chagas disease Chandler syndrome Clostridium difficile colitis Clouston syndrome Cockayne syndrome Cornelia de Lange syndrome Costello syndrome Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Dubowitz syndrome EEC syndrome Erdheim-Chester disease Ewing sarcoma Fleck corneal dystrophy Fuchs' endothelial dystrophy Graves' disease HCL-V Hirschsprung's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Japanese encephalitis Kaposi's sarcoma Klatskin's tumor Langerhans-cell histiocytosis Lynch syndrome MHC class II deficiency Marfan syndrome Meckel syndrome Meier-Gorlin syndrome 1 Meier-Gorlin syndrome NUT midline carcinoma Nijmegen breakage syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines Noonan syndrome PTEN hamartoma tumor syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peutz-Jeghers syndrome Pfeiffer syndrome Pick's disease Prader-Willi syndrome Proteus syndrome Reye syndrome Richter's syndrome Robinow syndrome SHORT syndrome Saethre-Chotzen syndrome Seckel syndrome Sertoli cell-only syndrome Sezary's disease Silver-Russell syndrome Sjogren's syndrome Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Van der Woude syndrome Wernicke-Korsakoff syndrome West Nile fever X-linked Aarskog syndrome X-linked agammaglobulinemia X-linked dilated cardiomyopathy X-linked ichthyosis X-linked spermatogenic failure 1 Zika fever Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acoustic neuroma acrocephalosyndactylia acrodermatitis actinic keratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute promyelocytic leukemia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adiposis dolorosa adrenal gland cancer adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult acute monocytic leukemia adult fibrosarcoma adult liposarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma adult respiratory distress syndrome age related macular degeneration agranulocytosis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amebiasis amnestic disorder ampulla of Vater carcinoma amyloidosis anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anaplastic astrocytoma androgen insensitivity syndrome angioedema angioimmunoblastic T-cell lymphoma angioma serpiginosum angiomatous meningioma angiosarcoma ankylosing spondylitis anogenital venereal wart anus benign neoplasm anus cancer aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arrhythmogenic right ventricular cardiomyopathy arteriolosclerosis arteriosclerosis obliterans arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asthma ataxia telangiectasia atherosclerosis atrial fibrillation atrioventricular septal defect atrophic gastritis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative atypical teratoid rhabdoid tumor autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant familial periodic fever autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome azoospermia bacterial infectious disease bacterial sepsis basal cell carcinoma benign breast phyllodes tumor benign ependymoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer biliary tract disease bipolar disorder bladder carcinoma bladder urothelial carcinoma bone cancer bone disease bone marrow cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain disease brain ischemia brain stem infarction breast cancer breast carcinoma breast ductal carcinoma breast malignant phyllodes tumor breast metaplastic carcinoma bronchus cancer bronchus carcinoma cancer capillary disease capillary hemangioma carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis cartilage disease cataract 2 multiple types cataract 30 cataract cavernous hemangioma celiac disease cellular ependymoma cellular myxoid liposarcoma cellular schwannoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral palsy cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervical clear cell adenocarcinoma cervical squamous cell carcinoma cervix carcinoma chikungunya childhood B-cell acute lymphoblastic leukemia childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood angiosarcoma childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood liposarcoma childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood optic nerve glioma childhood osteosarcoma childhood pilocytic astrocytoma childhood testicular germ cell tumor cholangiocarcinoma cholera cholestasis cholesteatoma chondrodysplasia-pseudohermaphroditism syndrome chondroma chondrosarcoma chordoma choreaacanthocytosis chorioangioma choriocarcinoma chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease ciliary body disease clear cell meningioma clear cell renal cell carcinoma cocaine abuse cocaine dependence colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart communicating hydrocephalus complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypogammaglobulinemia congenital hypothyroidism congestive heart failure connective tissue disease corneal disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cutaneous Paget's disease cystadenoma cystic fibrosis cystic kidney disease cystitis deafness-dystonia-optic neuronopathy syndrome dedifferentiated liposarcoma degeneration of macula and posterior pole degenerative disc disease dementia dengue disease dengue hemorrhagic fever denture stomatitis depressive disorder dermatitis dermatosis papulosa nigra diabetes insipidus diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysthymic disorder early infantile epileptic encephalopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma embryonal cancer embryonal rhabdomyosarcoma encephalitis encephalomyelitis endocrine exophthalmos endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa acquisita epidermolysis bullosa dystrophica epilepsy episodic kinesigenic dyskinesia 1 epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exudative vitreoretinopathy 1 exudative vitreoretinopathy familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial multiple nevi flammei familial nephrotic syndrome familial retinoblastoma fibrillary astrocytoma fibrosarcoma fibrous meningioma follicular adenoma follicular lymphoma fragile X syndrome functionless pituitary adenoma gallbladder cancer gallbladder carcinoma gallbladder disease ganglioglioma gastric adenocarcinoma gastroenteritis gastroesophageal reflux disease gastrointestinal stromal tumor gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma gingival fibromatosis glaucoma glioblastoma gliosarcoma glomerulonephritis glomus tumor glucose intolerance gonorrhea granular cell carcinoma hairy cell leukemia head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hemiplegia hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary hemorrhagic telangiectasia heroin dependence herpes simplex virus keratitis herpes simplex high grade glioma histiocytoid hemangioma hydrocephalus hyperandrogenism hyperglycemia hyperhomocysteinemia hyperinsulinism hyperostosis hypertension hyperthyroidism hypertrophic cardiomyopathy hypoglycemia hypospadias hypothalamic disease hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease impotence inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza insulinoma intellectual disability intestinal benign neoplasm intestinal cancer intracranial aneurysm intrahepatic cholangiocarcinoma intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma inverted follicular keratosis inverted papilloma iris disease irritable bowel syndrome islet cell tumor juvenile myelomonocytic leukemia juvenile pilocytic astrocytoma juvenile polyposis syndrome keratoconjunctivitis sicca keratoconus kidney cancer kidney disease kidney rhabdoid cancer kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer lateral meningocele syndrome learning disability leiomyoma leiomyosarcoma leprosy leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency leukopenia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis lipomatosis liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung non-squamous non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lupus nephritis lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia macular degeneration major depressive disorder male breast cancer male infertility malignant astrocytoma malignant choroid melanoma malignant conjunctival melanoma malignant fibrous histiocytoma malignant mesothelioma malignant peripheral nerve sheath tumor malignant pleural mesothelioma mantle cell lymphoma marasmus mast-cell leukemia mastocytosis medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoacanthoma melanoma melanotic medulloblastoma melanotic neurilemmoma membranoproliferative glomerulonephritis meningioma meningothelial meningioma mesangial proliferative glomerulonephritis mesenchymal cell neoplasm mevalonic aciduria microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microcystic meningioma microphthalmia middle cerebral artery infarction migraine mitochondrial DNA depletion syndrome mixed glioma mixed oligodendroglioma-astrocytoma mixed-type liposarcoma mood disorder morphine dependence mucinous adenocarcinoma mucoepidermoid carcinoma multicentric Castleman disease multiple endocrine neoplasia type 1 multiple myeloma multiple sclerosis multiple symmetric lipomatosis mycosis fungoides myelitis myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myocardial infarction myofibroma myopia myotonic dystrophy type 2 myxedema myxoid leiomyosarcoma myxoid liposarcoma myxopapillary ependymoma nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephritis nephroblastoma nephrolithiasis nephrosis nephrotic syndrome nervous system disease neurilemmoma neuroacanthocytosis neuroblastoma neurocirculatory asthenia neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurohypophyseal diabetes insipidus neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete Opitz-GBBB syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hilar cholangiocellular carcinoma obsolete lymphoplasmacytic lymphoma obsolete malignant histiocytosis obsolete melancholia obsolete multiple symmetrical lipomatosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive hydrocephalus obstructive jaundice obstructive nephropathy obstructive sleep apnea olfactory groove meningioma oligodendroglioma opiate dependence optic nerve glioma oropharynx cancer osteoarthritis osteoglophonic dysplasia osteomalacia osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma ovarian serous cystadenocarcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm pancreatitis panuveitis papillary adenocarcinoma papillary adenoma papillary ependymoma papillary hidradenoma papillary renal cell carcinoma papilloma parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma parathyroid gland disease patent ductus arteriosus penile benign neoplasm penile cancer penis carcinoma penis squamous cell carcinoma peptic esophagitis perinatal necrotizing enterocolitis periodontitis peripheral T-cell lymphoma peripheral nervous system disease pertussis pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma pleomorphic liposarcoma pleurisy plexiform schwannoma pneumonia polycystic kidney disease 1 polycystic ovary syndrome polycythemia vera polycythemia polymyalgia rheumatica polyneuropathy polyp of middle ear postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome premature ejaculation premature menopause preretinal fibrosis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary mediastinal B-cell lymphoma primary ovarian insufficiency primary pulmonary hypertension prion disease prolactinoma prostate cancer prostate carcinoma prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma pseudomyxoma peritonei psoriasis psoriatic arthritis psychologic dyspareunia pterygium pulmonary fibrosis pulmonary sarcoidosis pustulosis of palm and sole pyoureter rabies recessive dystrophic epidermolysis bullosa rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma reticulosarcoma retinal disease retinitis retinoblastoma retinopathy of prematurity retrograde amnesia rhabdoid cancer rhabdomyosarcoma rheumatoid arthritis rickets salivary gland adenoid cystic carcinoma sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleroderma sebaceous carcinoma seborrheic dermatitis seborrheic keratosis secondary hyperparathyroidism secretory meningioma seminoma senile degeneration of brain severe combined immunodeficiency severe congenital neutropenia sialuria sick sinus syndrome signet ring cell adenocarcinoma silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin carcinoma skin disease skin melanoma skin squamous cell carcinoma skull base chordoma small intestine adenocarcinoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal meningioma spindle cell sarcoma split hand-foot malformation 1 squamous cell carcinoma squamous cell neoplasm squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomatitis subacute delirium subependymal giant cell astrocytoma substance abuse substance-related disorder supratentorial primitive neuroectodermal tumor sweat gland cancer syndromic X-linked intellectual disability Snyder type syndromic intellectual disability synovial sarcoma synovitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tanycytic ependymoma telangiectasis temporal arteritis tenosynovitis testicular cancer testicular germ cell cancer testis seminoma thromboangiitis obliterans thymic carcinoma thymoma thymus lymphoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue cancer tongue squamous cell carcinoma tonsil cancer transient cerebral ischemia transitional cell carcinoma transitional meningioma trigonitis trilateral retinoblastoma trypanosomiasis tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type C thymoma ulcerative colitis ulcerative stomatitis ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine cancer uterine corpus cancer uterine fibroid uveal melanoma uveitis uveoparotid fever vascular dementia vascular disease vasomotor rhinitis venous hemangioma venous insufficiency vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visual epilepsy vitiligo von Hippel-Lindau disease xeroderma pigmentosum group C yellow fever
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	PIK3CD	1	1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell adult acute lymphocytic leukemia B-cell lymphoma Balo concentric sclerosis Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma CAKUT CD40 ligand deficiency Chagas disease Chandler syndrome Clostridium difficile colitis Clouston syndrome Cockayne syndrome Cornelia de Lange syndrome Costello syndrome Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Down syndrome Dubowitz syndrome EEC syndrome Erdheim-Chester disease Ewing sarcoma Fleck corneal dystrophy Fuchs' endothelial dystrophy Graves' disease HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Japanese encephalitis Kaposi's sarcoma Klatskin's tumor Langerhans-cell histiocytosis Lynch syndrome MHC class II deficiency Marfan syndrome Meckel syndrome NUT midline carcinoma Nijmegen breakage syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines Noonan syndrome PTEN hamartoma tumor syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peutz-Jeghers syndrome Pfeiffer syndrome Pick's disease Prader-Willi syndrome Proteus syndrome Reye syndrome Richter's syndrome Robinow syndrome SHORT syndrome Saethre-Chotzen syndrome Seckel syndrome Sertoli cell-only syndrome Sezary's disease Silver-Russell syndrome Sjogren's syndrome St. Louis encephalitis Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Van der Woude syndrome Wernicke-Korsakoff syndrome West Nile encephalitis West Nile fever X-linked Aarskog syndrome X-linked agammaglobulinemia X-linked dilated cardiomyopathy X-linked ichthyosis X-linked spermatogenic failure 1 Zika fever Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acoustic neuroma acrocephalosyndactylia acrodermatitis actinic keratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute promyelocytic leukemia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adiposis dolorosa adrenal gland cancer adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult acute monocytic leukemia adult fibrosarcoma adult liposarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma adult respiratory distress syndrome agammaglobulinemia age related macular degeneration agranulocytosis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amebiasis amnestic disorder ampulla of Vater carcinoma amyloidosis anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anaplastic astrocytoma androgen insensitivity syndrome angioedema angioimmunoblastic T-cell lymphoma angioma serpiginosum angiomatous meningioma angiosarcoma ankylosing spondylitis anogenital venereal wart anus benign neoplasm anus cancer aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arrhythmogenic right ventricular cardiomyopathy arteriolosclerosis arteriosclerosis obliterans arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asthma ataxia telangiectasia atherosclerosis atrial fibrillation atrioventricular septal defect atrophic gastritis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative atypical teratoid rhabdoid tumor autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant familial periodic fever autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome azoospermia bacterial infectious disease bacterial sepsis basal cell carcinoma benign breast phyllodes tumor benign ependymoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer biliary tract disease bipolar disorder bladder carcinoma bladder urothelial carcinoma bone cancer bone disease bone marrow cancer bone marrow disease bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain disease brain ischemia brain stem infarction breast cancer breast carcinoma breast ductal carcinoma breast malignant phyllodes tumor breast metaplastic carcinoma bronchiectasis bronchiolitis obliterans bronchus cancer bronchus carcinoma cancer capillary disease capillary hemangioma carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis cartilage disease cataract 2 multiple types cataract 30 cataract cavernous hemangioma celiac disease cellular ependymoma cellular myxoid liposarcoma cellular schwannoma cellulitis central nervous system cancer central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral palsy cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervical clear cell adenocarcinoma cervical squamous cell carcinoma cervix carcinoma chikungunya childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood angiosarcoma childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood liposarcoma childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood optic nerve glioma childhood osteosarcoma childhood pilocytic astrocytoma childhood testicular germ cell tumor cholangiocarcinoma cholera cholestasis cholesteatoma chondrodysplasia-pseudohermaphroditism syndrome chondroma chondrosarcoma chordoma choreaacanthocytosis chorioangioma choriocarcinoma chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chronic fatigue syndrome chronic granulomatous disease chronic interstitial cystitis chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chronic ulcer of skin clear cell meningioma clear cell renal cell carcinoma cocaine abuse cocaine dependence colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency common variable immunodeficiency common wart communicating hydrocephalus complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital heart disease congenital hypogammaglobulinemia congenital hypothyroidism congestive heart failure connective tissue disease corneal disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cutaneous Paget's disease cystadenoma cystic fibrosis cystic kidney disease cystitis deafness-dystonia-optic neuronopathy syndrome dedifferentiated liposarcoma degeneration of macula and posterior pole degenerative disc disease dementia dengue disease dengue hemorrhagic fever denture stomatitis depressive disorder dermatitis dermatosis papulosa nigra diabetes insipidus diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysthymic disorder early infantile epileptic encephalopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma embryonal cancer embryonal rhabdomyosarcoma encephalitis encephalomyelitis endocrine exophthalmos endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa acquisita epidermolysis bullosa dystrophica epilepsy episodic kinesigenic dyskinesia 1 epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exudative vitreoretinopathy 1 exudative vitreoretinopathy eye disease familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypertrophic cardiomyopathy familial multiple nevi flammei familial nephrotic syndrome familial retinoblastoma fibrillary astrocytoma fibrosarcoma fibrous meningioma follicular adenoma follicular lymphoma fragile X syndrome functionless pituitary adenoma gallbladder cancer gallbladder carcinoma gallbladder disease ganglioglioma gastric adenocarcinoma gastroenteritis gastroesophageal reflux disease gastrointestinal stromal tumor gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma gingival fibromatosis glaucoma glioblastoma gliosarcoma glomus tumor glucose intolerance gonorrhea granular cell carcinoma hairy cell leukemia head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hematopoietic system disease hemiplegia hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary hemorrhagic telangiectasia heroin dependence herpes simplex virus keratitis herpes simplex high grade glioma histiocytoid hemangioma hydrocephalus hyperandrogenism hyperglycemia hyperhomocysteinemia hyperinsulinism hyperostosis hypertension hyperthyroidism hypertrophic cardiomyopathy hypoglycemia hypothalamic disease hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease impotence inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza intellectual disability interstitial cystitis intestinal benign neoplasm intestinal cancer intracranial aneurysm intrahepatic cholangiocarcinoma intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma inverted follicular keratosis inverted papilloma irritable bowel syndrome islet cell tumor juvenile myelomonocytic leukemia juvenile pilocytic astrocytoma juvenile polyposis syndrome keratoconjunctivitis sicca keratoconus kidney cancer kidney disease kidney rhabdoid cancer kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer lateral meningocele syndrome learning disability leiomyoma leiomyosarcoma leishmaniasis leprosy leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency leukopenia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis lipomatosis liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung non-squamous non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lupus nephritis lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia macular degeneration major depressive disorder male breast cancer male infertility malignant astrocytoma malignant choroid melanoma malignant conjunctival melanoma malignant fibrous histiocytoma malignant mesothelioma malignant peripheral nerve sheath tumor malignant pleural mesothelioma mantle cell lymphoma marasmus mast-cell leukemia mastocytosis medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoacanthoma melanoma melanotic medulloblastoma melanotic neurilemmoma membranoproliferative glomerulonephritis meningioma meningothelial meningioma mesangial proliferative glomerulonephritis mesenchymal cell neoplasm microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microcystic meningioma microphthalmia middle cerebral artery infarction migraine mitochondrial DNA depletion syndrome mixed glioma mixed oligodendroglioma-astrocytoma mixed-type liposarcoma mood disorder morphine dependence mucinous adenocarcinoma mucoepidermoid carcinoma multicentric Castleman disease multiple endocrine neoplasia type 1 multiple myeloma multiple sclerosis multiple symmetric lipomatosis mycosis fungoides myelitis myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myocardial infarction myofibroma myotonic dystrophy type 2 myxedema myxoid leiomyosarcoma myxoid liposarcoma myxopapillary ependymoma narcolepsy nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephroblastoma nephrolithiasis nephrosis nephrotic syndrome nervous system disease neurilemmoma neuroacanthocytosis neuroblastoma neurocirculatory asthenia neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurohypophyseal diabetes insipidus neuromuscular disease neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete Opitz-GBBB syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hilar cholangiocellular carcinoma obsolete lymphoplasmacytic lymphoma obsolete malignant histiocytosis obsolete melancholia obsolete multiple symmetrical lipomatosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive hydrocephalus obstructive jaundice obstructive nephropathy obstructive sleep apnea olfactory groove meningioma oligodendroglioma oophoritis opiate dependence optic nerve glioma oropharynx cancer osteoarthritis osteoglophonic dysplasia osteomalacia osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma ovarian serous cystadenocarcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm pancreatitis papillary adenocarcinoma papillary adenoma papillary ependymoma papillary hidradenoma papillary renal cell carcinoma papilloma parametritis parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma parathyroid gland disease parotitis patent ductus arteriosus pelvic inflammatory disease penile benign neoplasm penile cancer penis carcinoma penis squamous cell carcinoma peptic esophagitis perinatal necrotizing enterocolitis periodontitis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma pleomorphic liposarcoma plexiform schwannoma pneumonia polycystic kidney disease 1 polycystic ovary syndrome polycythemia vera polycythemia polymyalgia rheumatica polyneuropathy polyp of middle ear postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome premature ejaculation premature menopause preretinal fibrosis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary mediastinal B-cell lymphoma primary ovarian insufficiency primary pulmonary hypertension primary sclerosing cholangitis prion disease prolactinoma prostate cancer prostate carcinoma prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma pseudomyxoma peritonei psoriasis psoriatic arthritis psychologic dyspareunia pterygium pulmonary fibrosis pulmonary sarcoidosis pustulosis of palm and sole pyosalpinx rabies recessive dystrophic epidermolysis bullosa rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma reticulosarcoma retinal disease retinitis retinoblastoma retinopathy of prematurity retrograde amnesia rhabdoid cancer rhabdomyosarcoma rheumatoid arthritis rickets salivary gland adenoid cystic carcinoma salpingitis sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleroderma sclerosing cholangitis sebaceous carcinoma seborrheic dermatitis seborrheic keratosis secondary hyperparathyroidism secretory meningioma seminoma senile degeneration of brain severe combined immunodeficiency severe congenital neutropenia sialadenitis sialuria sick sinus syndrome signet ring cell adenocarcinoma silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin carcinoma skin disease skin melanoma skin squamous cell carcinoma skull base chordoma small intestine adenocarcinoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal meningioma spindle cell sarcoma split hand-foot malformation 1 squamous cell carcinoma squamous cell neoplasm squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomatitis subacute delirium subependymal giant cell astrocytoma substance abuse substance-related disorder supratentorial primitive neuroectodermal tumor sweat gland cancer syndromic X-linked intellectual disability Snyder type syndromic intellectual disability synovial sarcoma synovitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tanycytic ependymoma telangiectasis temporal arteritis tenosynovitis testicular cancer testicular germ cell cancer testis seminoma thromboangiitis obliterans thrombocytopenia thymic carcinoma thymoma thymus lymphoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue cancer tongue squamous cell carcinoma tonsil cancer transient cerebral ischemia transitional cell carcinoma transitional meningioma trigonitis trilateral retinoblastoma trypanosomiasis tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type C thymoma ulcerative colitis ulcerative stomatitis ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine cancer uterine corpus cancer uterine fibroid uveal melanoma uveoparotid fever vascular dementia vascular disease vasomotor rhinitis venous hemangioma venous insufficiency vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visceral leishmaniasis visual epilepsy vitiligo von Hippel-Lindau disease xeroderma pigmentosum group C yellow fever
O60488	Long-chain-fatty-acid--CoA ligase 4	ACSL4 ACS4 FACL4 LACS4	3	1	Alport syndrome Bell's palsy Duchenne muscular dystrophy Meckel's diverticulum abdominal obesity-metabolic syndrome 1 adenocarcinoma adenoma anxiety disorder arthritis arthropathy attention deficit hyperactivity disorder autistic disorder bacterial sepsis bipolar disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer clubfoot colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hemolytic anemia cribriform carcinoma depressive disorder disease of mental health dysthymic disorder embryoma epithelioid leiomyosarcoma epithelioid sarcoma facial nerve disease facial paralysis favism follicular adenoma generalized anxiety disorder gliosarcoma glomerulonephritis granular cell carcinoma granuloma annulare hepatocellular carcinoma hereditary elliptocytosis high grade glioma hypertropia intellectual disability kidney failure large intestine cancer learning disability leiomyosarcoma liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma major depressive disorder mechanical strabismus melancholic depression microcystic adenoma mixed glioma muscular dystrophy myopia myxoid leiomyosarcoma nephritis neuromuscular disease neurotic disorder non-syndromic X-linked intellectual disability obesity obsolete melancholia ophthalmoplegia osteoarthritis papillary adenoma patent ductus arteriosus placental insufficiency prostate cancer prostate carcinoma proteinuria psychotic disorder pyloric stenosis sarcoma schizophrenia sensorineural hearing loss spindle cell sarcoma steatotic liver disease stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 systemic lupus erythematosus tubular adenocarcinoma visual epilepsy
Q9P2W7	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1	B3GAT1 GLCATP	3	3	Alport syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Clouston syndrome Down syndrome Ewing sarcoma Felty's syndrome Goodpasture syndrome HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Lown-Ganong-Levine syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Takayasu's arteritis Wolff-Parkinson-White syndrome Zika fever acoustic neuroma acquired hyperkeratosis acquired immunodeficiency syndrome actinic keratosis acute lymphoblastic leukemia adult acute lymphocytic leukemia aggressive NK-cell leukemia agnosia agranulocytosis allergic asthma anaplastic astrocytoma anxiety disorder arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome axonal neuropathy bone disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cartilage disease cataract 5 multiple types celiac disease cellular schwannoma cerebral cavernous malformation 1 cerebral degeneration cherubism childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia chromophobe renal cell carcinoma chronic NK-cell lymphocytosis chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma complex regional pain syndrome congenital myasthenic syndrome connective tissue disease coronary artery disease critical illness polyneuropathy depressive disorder diabetic ketoacidosis disease of mental health dysthymic disorder embryoma encephalomyelitis epidermolysis bullosa epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exostosis fibrillary astrocytoma fibrous dysplasia gastroparesis gemistocytic astrocytoma generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma glycine encephalopathy granulomatosis with polyangiitis hairy cell leukemia hemophagocytic lymphohistiocytosis hepatitis C hepatitis D high grade glioma human immunodeficiency virus infectious disease hypersensitivity vasculitis hypertension idiopathic interstitial pneumonia inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza intrinsic asthma juvenile pilocytic astrocytoma keratoacanthoma large intestine cancer leukemia leukopenia lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoblastic lymphoma lymphoid leukemia lymphopenia major depressive disorder malaria malignant astrocytoma malignant peripheral nerve sheath tumor melancholic depression melanoma melanotic neurilemmoma meningoencephalitis metanephric adenoma mucocutaneous leishmaniasis multiple myeloma multiple sclerosis myasthenia gravis myeloid leukemia myeloproliferative disorder with eosinophilia neurilemmoma neuroblastoma neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neuropathy neurotic disorder neutropenia nonpapillary renal cell carcinoma obsolete constipation obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea osteoarthritis papillary carcinoma papillary renal cell carcinoma papilloma periapical granuloma peripheral nervous system disease phobic disorder pilocytic astrocytoma plasma cell neoplasm pleomorphic adenoma plexiform schwannoma polyarteritis nodosa polyneuropathy polyradiculoneuropathy post-traumatic stress disorder postinflammatory pulmonary fibrosis primary biliary cholangitis primary sclerosing cholangitis prostate cancer prostate carcinoma protoplasmic astrocytoma psychotic disorder pulmonary fibrosis renal carcinoma renal cell carcinoma retinal disease retinitis rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder sclerosing cholangitis severe congenital neutropenia skin melanoma speech-language disorder-1 spindle cell sarcoma squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer subependymal giant cell astrocytoma sudden infant death syndrome tongue squamous cell carcinoma tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus ulcerative colitis uveal melanoma viral infectious disease
P12821	Angiotensin-converting enzyme	ACE DCP DCP1	23	115	Alport syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Balo concentric sclerosis Bannayan-Riley-Ruvalcaba syndrome Becker muscular dystrophy Behcet's disease Burkitt lymphoma CAKUT Chagas disease Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Clostridium difficile colitis Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III Gaucher's disease Goodpasture syndrome Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Henoch-Schoenlein purpura Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Kawasaki disease Keshan disease Kuhnt-Junius degeneration Langerhans-cell histiocytosis Leber hereditary optic neuropathy Lewy body dementia Marfan syndrome Meckel syndrome 8 Meckel syndrome Mycoplasma pneumoniae pneumonia Netherton syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Potter's syndrome Prinzmetal angina Raynaud disease Reye syndrome Richter's syndrome Senior-Loken syndrome Sjogren's syndrome St. Louis encephalitis T-cell acute lymphoblastic leukemia Takayasu's arteritis Werner syndrome Wilson disease X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 ablepharon macrostomia syndrome acne acquired immunodeficiency syndrome acrodermatitis acromegaly actinic keratosis acute biphenotypic leukemia acute chest syndrome acute kidney failure acute leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute pyelonephritis adenocarcinoma adenoma adrenal gland cancer adrenal gland hyperfunction adrenoleukodystrophy adult fibrosarcoma adult lymphoma adult respiratory distress syndrome age related macular degeneration agenesis of the corpus callosum with peripheral neuropathy agnosia agoraphobia agranulocytosis alcohol dependence alcohol use disorder alcoholic cardiomyopathy alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic contact dermatitis allergic rhinitis alopecia areata alopecia alpha 1-antitrypsin deficiency alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis anemia angioedema angioma serpiginosum ankylosing spondylitis anterolateral myocardial infarction anteroseptal myocardial infarction anthracosilicosis antisocial personality disorder antithrombin III deficiency anuria anxiety disorder aortic aneurysm aortic atherosclerosis aortic valve disease 1 aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asbestosis aseptic meningitis aspiration pneumonia aspiration pneumonitis asthma atherosclerosis atrial fibrillation atrioventricular block atrioventricular septal defect autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autonomic neuropathy autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal dominant polycystic kidney disease autosomal recessive congenital ichthyosis 1 autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy autosomal recessive polycystic kidney disease background diabetic retinopathy bacterial infectious disease bacterial sepsis basal cell carcinoma berylliosis bestrophinopathy bicuspid aortic valve disease bile duct adenocarcinoma bile duct carcinoma bipolar disorder bone cancer bone disease bone marrow cancer borderline personality disorder brain disease brain infarction brain ischemia brain stem infarction breast cancer breast carcinoma breast fibrocystic disease bronchiolitis obliterans bronchus cancer bronchus carcinoma burning mouth syndrome campomelic dysplasia cancer cannabis abuse cannabis dependence capillary disease capillary hemangioma carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease carotid artery thrombosis carotid stenosis carpal tunnel syndrome cartilage disease cataract 32 multiple types cataract catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia cavernous hemangioma celiac disease central gyrate choroidal dystrophy central nervous system cancer central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral atherosclerosis cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood leukemia childhood lymphoma childhood type dermatomyositis cholangiocarcinoma cholera cholestasis chondrocalcinosis chorioretinitis choroiditis chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease ciliary body disease clear cell renal cell carcinoma colitis collagen disease collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement component 2 deficiency complement component 4a deficiency complement component 4b deficiency complement component 6 deficiency complement component 7 deficiency complement component 9 deficiency complement deficiency complex partial epilepsy cone-rod dystrophy congenital central hypoventilation syndrome congenital diaphragmatic hernia congenital heart disease congenital hypothyroidism congenital muscular dystrophy congenital nongoitrous hypothyroidism 4 congestive heart failure connective tissue disease coronary aneurysm coronary artery disease coronary artery vasospasm coronary restenosis coronary stenosis coronary thrombosis craniometaphyseal dysplasia crescentic glomerulonephritis cribriform carcinoma critical illness polyneuropathy cystic fibrosis cystoid macular edema degeneration of macula and posterior pole dementia dental caries dentin caries depressive disorder dermatitis dermatomyositis diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diastolic heart failure diastrophic dysplasia dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of mental health disease of metabolism distal myopathy drug psychosis dry eye syndrome duodenum cancer dyschromatosis symmetrica hereditaria dysgerminoma of ovary dysthymic disorder eclampsia embryoma embryonal cancer encephalitis encephalomyelitis endocarditis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis enterocele epilepsy episodic kinesigenic dyskinesia 1 esophageal cancer esophageal carcinoma esophagitis essential hypertension essential thrombocythemia exudative vitreoretinopathy 1 exudative vitreoretinopathy facioscapulohumeral muscular dystrophy familial combined hyperlipidemia familial hypercholesterolemia familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial nephrotic syndrome familial periodic paralysis fibromyalgia fibrosarcoma focal segmental glomerulosclerosis 1 focal segmental glomerulosclerosis 2 focal segmental glomerulosclerosis 5 focal segmental glomerulosclerosis 6 focal segmental glomerulosclerosis 7 focal segmental glomerulosclerosis 8 focal segmental glomerulosclerosis 9 focal segmental glomerulosclerosis follicular adenoma frontotemporal dementia fundus albipunctatus gallbladder cancer gallbladder carcinoma gallbladder disease gastric ulcer gastritis gastroenteritis gastroesophageal reflux disease gastrointestinal system cancer gastrointestinal system disease generalized anxiety disorder generalized atherosclerosis germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance glycogen storage disease II glycogen storage disease V granular cell carcinoma granular corneal dystrophy 2 granulomatosis with polyangiitis heart cancer heart disease heart valve disease hematologic cancer hemochromatosis hemopericardium hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hereditary angioedema hereditary hemorrhagic telangiectasia hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hereditary spherocytosis type 1 hereditary spherocytosis hiatus hernia high grade glioma human immunodeficiency virus infectious disease hydronephrosis hyperandrogenism hypercalcemia hyperglycemia hyperhomocysteinemia hyperinsulinism hyperparathyroidism hyperpituitarism hypersensitivity vasculitis hypertension hypertensive heart disease hyperthyroidism hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypoplastic left heart syndrome hypothyroidism ichthyosis idiopathic interstitial pneumonia idiopathic pulmonary fibrosis idiopathic scoliosis ileitis ileocolitis immune system disease impotence inappropriate ADH syndrome infective endocarditis inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory myofibroblastic tumor intermediate coronary syndrome intermittent claudication intermittent explosive disorder interstitial lung disease interstitial nephritis intestinal disease intracranial aneurysm intracranial arteriosclerosis intrahepatic cholangiocarcinoma intrahepatic cholestasis of pregnancy intrinsic asthma iris disease iron metabolism disease irritable bowel syndrome keratoconjunctivitis sicca keratosis follicularis kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer left bundle branch hemiblock leiomyoma leukemia leukostasis limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphangioleiomyomatosis lymphoma lymphopenia macrocytic anemia macular degeneration macular retinal edema major depressive disorder malaria male infertility malignant hypertension marasmus megacystis-microcolon-intestinal hypoperistalsis syndrome melancholic depression melanoma membranous glomerulonephritis meningoencephalitis mevalonic aciduria microcephaly microcystic adenoma microglandular adenosis microinvasive gastric cancer microphthalmia middle cerebral artery infarction migraine with aura migraine without aura migraine mitral valve disease mitral valve insufficiency mitral valve prolapse mitral valve stenosis mixed glioma mixed sleep apnea mongolian spot mood disorder morbid obesity motor peripheral neuropathy multiple endocrine neoplasia type 2A multiple myeloma multiple sclerosis multiple system atrophy muscular dystrophy musculoskeletal system disease myelitis myelodysplastic syndrome myelofibrosis myeloproliferative neoplasm myocardial infarction myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma myopathy myositis myotonic dystrophy type 1 myotonic dystrophy type 2 myxedema narcolepsy nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephritis nephrocalcinosis nephronophthisis 1 nephronophthisis nephrosclerosis nephrosis nephrotic syndrome type 1 nephrotic syndrome type 2 nephrotic syndrome nervous system disease neurocirculatory asthenia neurodegenerative disease neuromuscular disease neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nicotine dependence nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma normal pressure hydrocephalus nutmeg liver nutrition disease nutritional optic neuropathy obesity obsolete Cushing's syndrome obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete chronobiology disease obsolete congenital ichthyosiform erythroderma obsolete constipation obsolete eye and adnexa disease obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea ocular hypotension oculopharyngeal muscular dystrophy oligohydramnios open-angle glaucoma osteitis fibrosa osteoarthritis osteomalacia osteonecrosis osteoporosis otosclerosis ovarian cancer ovarian carcinoma pancreas disease pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis panic disorder panuveitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis patent ductus arteriosus pemphigus vulgaris pemphigus peptic esophagitis peptic ulcer disease pericardial effusion perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral artery disease peripheral nervous system disease peripheral vascular disease periventricular leukomalacia personality disorder pheochromocytoma phobic disorder phosphorus metabolism disease placental insufficiency plasmacytoma pneumonia polyarteritis nodosa polycystic kidney disease 1 polycystic kidney disease 4 polycystic ovary syndrome polycythemia vera polycythemia polyneuropathy portal hypertension post-traumatic stress disorder posterior uveitis postinflammatory pulmonary fibrosis postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome premature ejaculation primary biliary cholangitis primary hyperaldosteronism primary hyperparathyroidism primary open angle glaucoma primary ovarian insufficiency primary polycythemia primary pulmonary hypertension progeria progressive muscular atrophy progressive supranuclear palsy proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma protein C deficiency protein S deficiency protein-energy malnutrition proteinuria pseudoxanthoma elasticum psoriasis psoriatic arthritis psychologic dyspareunia psychotic disorder pterygium pulmonary edema pulmonary embolism pulmonary emphysema pulmonary fibrosis pulmonary hypertension pulmonary sarcoidosis pulmonary tuberculosis pustulosis of palm and sole pyelitis pyelonephritis pyoureter pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rapidly progressive glomerulonephritis rectal benign neoplasm rectum adenocarcinoma rectum cancer red-green color blindness reflex sympathetic dystrophy renal artery disease renal artery obstruction renal carcinoma renal cell carcinoma renal hypertension renal infectious disease renal osteodystrophy renovascular hypertension respiratory syncytial virus infectious disease restrictive cardiomyopathy 1 restrictive cardiomyopathy reticulosarcoma retinal disease retinal vein occlusion retinitis pigmentosa retinitis retinopathy of prematurity rheumatoid arthritis rhinitis rickets rippling muscle disease 2 sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleritis scleroderma seasonal affective disorder seborrheic keratosis seminoma sensorineural hearing loss severe acute respiratory syndrome severe congenital neutropenia sexual dysfunction sick sinus syndrome sickle cell anemia silent myocardial infarction silicosis situs inversus skin atrophy skin benign neoplasm skin cancer skin disease skin melanoma sleep apnea small intestine cancer somatization disorder somatoform disorder speech-language disorder-1 spondyloarthropathy spondylosis squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis subacute sclerosing panencephalitis substance abuse substance-related disorder synovial sarcoma systemic lupus erythematosus systemic scleroderma systolic heart failure telangiectasis temporal lobe epilepsy testicular cancer testicular germ cell cancer testis seminoma tetralogy of Fallot thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma transient cerebral ischemia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tropical sprue trypanosomiasis tuberculosis tuberculous pneumothorax tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type I complement component 8 deficiency type II complement component 8 deficiency ulcerative colitis uremia ureteral obstruction urinary system benign neoplasm urinary system cancer urinary tract obstruction urticaria uterine corpus cancer uterine fibroid uveitis uveoparotid fever vascular dementia vascular disease vasculitis vasomotor rhinitis vertebrobasilar insufficiency vesicoureteral reflux viral infectious disease viral meningitis viral pneumonia visual epilepsy vitiligo xerophthalmia
P36222	Chitinase-3-like protein 1	CHI3L1	2	0	Alexander disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma CD40 ligand deficiency Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Gaucher's disease Goodpasture syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hantavirus hemorrhagic fever with renal syndrome Hermansky-Pudlak syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kawasaki disease Kuhnt-Junius degeneration Lafora disease Lewy body dementia Loeffler syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Reye syndrome Takayasu's arteritis X-linked hyper IgM syndrome acne acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute chest syndrome acute disseminated encephalomyelitis acute interstitial pneumonia acute kidney tubular necrosis acute lymphoblastic leukemia acute myocardial infarction adenocarcinoma adenoma adrenoleukodystrophy adult acute lymphocytic leukemia adult oligodendroglioma age related macular degeneration agnosia alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis anaplastic astrocytoma androgen insensitivity syndrome anemia anthracosilicosis arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis atopic dermatitis atrial fibrillation autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial infectious disease bacterial pneumonia bacterial sepsis benign ependymoma bipolar disorder bladder urothelial carcinoma blind loop syndrome bone disease bone marrow cancer bone osteosarcoma brain infarction breast cancer breast carcinoma bronchiolitis obliterans bronchitis bronchus cancer bronchus carcinoma byssinosis cancer cardiovascular system disease carotid artery disease cartilage disease cataract 32 multiple types cellular ependymoma central nervous system cancer central nervous system disease cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia childhood oligodendroglioma childhood osteosarcoma childhood type dermatomyositis chromophobe renal cell carcinoma chronic ethmoiditis chronic kidney disease chronic obstructive pulmonary disease chronic sphenoidal sinusitis clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cystic fibrosis degeneration of macula and posterior pole dementia depressive disorder dermatitis dermatomyositis diabetes mellitus diabetic ketoacidosis diabetic macular edema dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health distal arthrogryposis embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma eosinophilic pneumonia epilepsy esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exfoliation syndrome extrinsic allergic alveolitis farmer's lung fatal familial insomnia fibrillary astrocytoma follicular adenoma frontotemporal dementia gallbladder disease gastroenteritis gastrointestinal system cancer gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance granular cell carcinoma granulomatosis with polyangiitis heart disease hematologic cancer hepatitis B hepatitis C hepatitis hepatocellular carcinoma hidradenitis suppurativa hidradenitis high grade glioma human immunodeficiency virus infectious disease hyper IgM syndrome hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunodeficiency with hyper IgM type 3 inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease intermediate coronary syndrome intermittent claudication interstitial lung disease intrahepatic cholestasis of pregnancy intrinsic asthma invasive ductal carcinoma juvenile pilocytic astrocytoma keratitis keratoconjunctivitis kidney disease large intestine cancer lichen planus liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma macrocytic anemia macular degeneration major depressive disorder malaria malignant astrocytoma melancholic depression melanoma meningitis microcystic adenoma middle cerebral artery infarction mitral valve stenosis mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma multiple sclerosis myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction myositis myotonic dystrophy type 1 myotonic dystrophy type 2 myxopapillary ependymoma nephritis nephrosis nervous system disease neurodegenerative disease neurogenic arthropathy nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obsolete ymphosarcoma obstructive sleep apnea oligodendroglioma oophoritis osteoarthritis osteoblastoma osteomyelitis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary ependymoma papillary renal cell carcinoma parametritis parapsoriasis pelvic inflammatory disease peripheral artery disease peripheral vascular disease pilocytic astrocytoma plasmacytoma pneumonia polyarteritis nodosa polycythemia vera polycythemia pompholyx portal vein thrombosis post-vaccinal encephalitis postinflammatory pulmonary fibrosis prediabetes syndrome primary cutaneous T-cell non-Hodgkin lymphoma primary pulmonary hypertension prion disease progressive muscular atrophy progressive supranuclear palsy prostate cancer prostate carcinoma protoplasmic astrocytoma psoriasis psychotic disorder pulmonary alveolar proteinosis pulmonary emphysema pulmonary eosinophilia pulmonary fibrosis pustulosis of palm and sole pyosalpinx pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease retinal detachment retinal disease retinitis retrograde amnesia rheumatoid arthritis salpingitis sarcoidosis sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder scleroderma scoliosis seborrheic keratosis sepiapterin reductase deficiency sick sinus syndrome silent myocardial infarction skin disease skin melanoma speech-language disorder-1 squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic scleroderma tanycytic ependymoma tauopathy thrombophilia thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus cancer uveoparotid fever vascular dementia vascular disease vasomotor rhinitis viral pneumonia
P28907	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1	CD38	5	24	Alexander disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Balo concentric sclerosis Bloch-Sulzberger syndrome Burkitt lymphoma Cauda equina syndrome Clouston syndrome Cockayne syndrome Crohn's colitis Crohn's disease Diamond-Blackfan anemia Down syndrome Duchenne muscular dystrophy Edwards syndrome Ehlers-Danlos syndrome Evans' syndrome Ewing sarcoma Fanconi anemia Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Japanese encephalitis Klippel-Feil syndrome Langerhans-cell histiocytosis Laron syndrome Lyme disease MHC class II deficiency Menkes disease Miller-Dieker lissencephaly syndrome Norrie disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Pick's disease Reye syndrome Richter's syndrome Scheuermann's disease T-cell acute lymphoblastic leukemia Turner syndrome Weissenbacher-Zweymuller syndrome X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia X-linked spondyloepiphyseal dysplasia tarda abdominal obesity-metabolic syndrome 1 achondroplasia acquired immunodeficiency syndrome acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute megakaryocytic leukemia acute monocytic leukemia acute myeloid leukemia acute pancreatitis acute promyelocytic leukemia adenosarcoma adenosine deaminase deficiency adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma aggressive systemic mastocytosis allergic asthma alveolar soft part sarcoma amnestic disorder amyloidosis androgen insensitivity syndrome angioedema ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ankylosing spondylitis anorexia nervosa aortic aneurysm arthritis arthropathy asthma ataxia telangiectasia attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura autoimmune thyroiditis bacterial sepsis basal cell carcinoma benign ependymoma beta thalassemia biphasic synovial sarcoma bone cancer bone osteosarcoma brain cancer breast cancer breast carcinoma bronchiolitis bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence carcinoma cardiovascular system disease celiac disease cellular ependymoma central nervous system disease central nervous system lymphoma centronuclear myopathy cerebral degeneration cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood leukemia childhood lymphoma chromophobe renal cell carcinoma chromosome 17p13.1 deletion syndrome chronic fatigue syndrome chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma cognitive disorder collecting duct carcinoma colorectal cancer colorectal carcinoma common variable immunodeficiency cone-rod dystrophy 2 cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypoplastic anemia congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congenital myopathy 4A congenital structural myopathy dementia dengue disease depressive disorder dermatofibrosarcoma protuberans diabetes mellitus diabetic ketoacidosis diffuse idiopathic skeletal hyperostosis diffuse large B-cell lymphoma disease of metabolism dissociative amnesia dysthymic disorder ectodermal dysplasia embryoma encephalitis encephalomyelitis enterobiasis enterocele epilepsy epithelioid malignant peripheral nerve sheath tumor esophageal cancer esophageal carcinoma essential hypertension essential thrombocythemia extramedullary plasmacytoma facial hemiatrophy familial hyperlipidemia familial periodic paralysis follicular lymphoma giant cell glioblastoma glioblastoma glomerulonephritis gonadal dysgenesis heart disease hematologic cancer hemophilia B hepatitis C hepatocellular carcinoma herpes simplex high grade glioma human immunodeficiency virus infectious disease hypertension hypogonadism hypohidrotic ectodermal dysplasia hypomelanosis of Ito immune system disease inclusion body myositis indolent systemic mastocytosis inflammatory bowel disease 1 inflammatory bowel disease influenza intellectual disability intestinal schistosomiasis intrinsic asthma juvenile myelomonocytic leukemia keratitis keratoconjunctivitis kidney disease large intestine cancer larynx sarcoma learning disability leiomyoma leukemia lipoatrophic diabetes mellitus lipodystrophy liposarcoma lissencephaly liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus lupus nephritis lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia major depressive disorder malignant peripheral nerve sheath tumor malignant pleural mesothelioma mastocytosis medulloblastoma medulloepithelioma megaconial type congenital muscular dystrophy melancholic depression melanoma microphthalmia monoclonal gammopathy of uncertain significance monoclonal paraproteinemia monophasic synovial sarcoma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multicentric Castleman disease multiple epiphyseal dysplasia multiple myeloma multiple sclerosis muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myelitis myelodysplastic syndrome myeloid leukemia myelomeningocele myofibroma myopathy myxopapillary ependymoma narcolepsy nasopharynx carcinoma nemaline myopathy nephritis nephroblastoma nervous system disease neurilemmoma neuroblastoma neurodegenerative disease neuroectodermal tumor neurofibroma neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurogenic bladder neurotic disorder non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete lymphoplasmacytic lymphoma obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma open-angle glaucoma optic papillitis orofaciodigital syndrome VIII osteoarthritis osteochondrodysplasia osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteoporosis osteosarcoma pancreatitis papillary adenocarcinoma papillary ependymoma papillary renal cell carcinoma papilledema parapsoriasis parasitic helminthiasis infectious disease paratyphoid fever paroxysmal nocturnal hemoglobinuria periodontitis peripheral nervous system neoplasm pigment dispersion syndrome plasma cell neoplasm plasmacytoma pleomorphic liposarcoma polycythemia vera premature menopause primary immunodeficiency disease primary open angle glaucoma primary ovarian insufficiency prolymphocytic leukemia prostate cancer prostate carcinoma proteinuria psoriasis psoriatic arthritis pure red-cell aplasia pustulosis of palm and sole refractory plasma cell neoplasm renal carcinoma renal cell carcinoma reticulosarcoma retinal edema rheumatoid arthritis rigid spine muscular dystrophy 1 sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schistosomiasis schizophrenia scoliosis severe combined immunodeficiency sick sinus syndrome sickle cell anemia skin disease skin melanoma small cell sarcoma spina bifida spinal cord disease spondylolisthesis subacute sclerosing panencephalitis substance abuse substance-related disorder supratentorial primitive neuroectodermal tumor synovial sarcoma syringomyelia systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic mastocytosis tanycytic ependymoma tethered spinal cord syndrome thalassemia thanatophoric dysplasia thyroid gland papillary carcinoma trichinosis tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus typhoid fever ulcerative colitis urticaria uterine fibroid uterus leiomyosarcoma vascular disease viral infectious disease visual epilepsy yellow fever
P35052	Glypican-1	GPC1	12	18	Albright's hereditary osteodystrophy Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Duchenne muscular dystrophy ITM2B-related cerebral amyloid angiopathy 1 ITM2B-related cerebral amyloid angiopathy 2 Kallmann syndrome Niemann-Pick disease type C1 Niemann-Pick disease Pick's disease Reye syndrome Sheehan syndrome Simpson-Golabi-Behmel syndrome type 1 adenocarcinoma adenoma ameloblastoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma biliary atresia borderline personality disorder breast cancer breast carcinoma cancer central nervous system cancer cerebral amyloid angiopathy cerebral degeneration cervical cancer cholangiocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism craniosynostosis cribriform carcinoma embryoma epilepsy esophagus squamous cell carcinoma eyelid disease fibrodysplasia ossificans progressiva gallbladder cancer gallbladder carcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hemochromatosis type 1 hemochromatosis hepatocellular carcinoma high grade glioma hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypothyroidism intermittent explosive disorder intrahepatic cholangiocarcinoma isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency large intestine cancer liver cancer lung adenocarcinoma lung cancer malignant epithelial mesothelioma malignant mesothelioma microphthalmia mixed glioma muscular dystrophy myositis ossificans myxedema nodular prostate obsolete Matthew-Wood syndrome ophthalmoplegia ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma panhypopituitarism placental insufficiency prostate cancer prostate carcinoma prostatic adenoma pseudohypoparathyroidism pseudopseudohypoparathyroidism rheumatoid arthritis schizophrenia squamous cell carcinoma thymus gland disease tongue squamous cell carcinoma tubular adenocarcinoma visual epilepsy xanthomatosis
Q13510	Acid ceramidase	ASAH1 ASAH	8	123	Albright's hereditary osteodystrophy Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Beckwith-Wiedemann syndrome Bell's palsy CLOVES syndrome Erdheim-Chester disease Ewing sarcoma Fabry disease Farber lipogranulomatosis IGSF1 deficiency syndrome Krabbe disease Laron syndrome Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Perlman syndrome Pick's disease Reye syndrome Sotos syndrome Turner syndrome Unverricht-Lundborg syndrome Usher syndrome type 2 Usher syndrome type 3 Usher syndrome Wolman disease achondroplasia acute monocytic leukemia acute myeloid leukemia adult medulloblastoma agnosia amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anterior horn cell disease arthritis arthropathy atrial fibrillation autosomal recessive distal hereditary motor neuronopathy 1 benign ependymoma benign epilepsy with centrotemporal spikes blepharospasm brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cellular ependymoma cerebral degeneration childhood ependymoma childhood medulloblastoma chylomicron retention disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined saposin deficiency congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congenital nystagmus cystic fibrosis dementia dentatorubral-pallidoluysian atrophy developmental coordination disorder dissociated nystagmus early myoclonic encephalopathy embryoma epilepsy facial nerve disease facial paralysis focal hand dystonia gastroenteritis gastrointestinal system cancer giant cell glioblastoma glaucoma glioblastoma gonadal dysgenesis head and neck cancer head and neck squamous cell carcinoma herpes simplex high grade glioma hyperglycemia hypoparathyroidism hypothyroidism idiopathic generalized epilepsy idiopathic interstitial pneumonia ileitis ileocolitis intellectual disability invasive ductal carcinoma large intestine cancer lateral sclerosis learning disability lipid storage disease lung benign neoplasm lung cancer lung carcinoma lysosomal storage disease measles medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma motor neuron disease myxedema myxopapillary ependymoma neonatal diabetes neurodegenerative disease neuroectodermal tumor obesity ocular melanoma osteoporosis pancreatic cancer pancreatic carcinoma papillary carcinoma papillary ependymoma pathologic nystagmus pneumonia postinflammatory pulmonary fibrosis progressive muscular atrophy progressive myoclonus epilepsy 1A progressive myoclonus epilepsy prostate cancer prostate carcinoma pseudohypoparathyroidism type IB pseudohypoparathyroidism pseudopseudohypoparathyroidism pulmonary fibrosis rectal benign neoplasm rectum adenocarcinoma rectum cancer recurrent corneal erosion retinitis pigmentosa-deafness syndrome retinoblastoma rheumatoid arthritis sarcomatoid carcinoma schizophrenia scoliosis sensorineural hearing loss skin melanoma speech disorder spinal muscular atrophy with progressive myoclonic epilepsy spinal muscular atrophy spontaneous ocular nystagmus tanycytic ependymoma thyroid adenoma thyroid cancer thyroid gland carcinoma transient neonatal diabetes mellitus viral infectious disease
P07741	Adenine phosphoribosyltransferase	APRT	0	1	Albright's hereditary osteodystrophy Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Barrett's esophagus Becker muscular dystrophy Bloom syndrome Brucella melitensis brucellosis Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome Carney complex Danon disease Duchenne muscular dystrophy Gerstmann-Straussler-Scheinker syndrome Gorham's disease Graves' disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Langerhans-cell histiocytosis Lesch-Nyhan syndrome Lown-Ganong-Levine syndrome Marfan syndrome McCune Albright syndrome Meckel syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peutz-Jeghers syndrome Pick's disease Q fever Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia Werdnig-Hoffmann disease Werner syndrome Wolff-Parkinson-White syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acquired hyperkeratosis acrodermatitis acrodysostosis acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenine phosphoribosyltransferase deficiency adenocarcinoma adenoma adenosarcoma adrenal gland cancer adrenal gland hyperfunction adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult fibrosarcoma adult hepatocellular carcinoma adult medulloblastoma alcohol dependence alcohol use disorder allergic asthma amyloidosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anaplastic astrocytoma anterior horn cell disease arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrichia with papular lesions atrioventricular block attention deficit hyperactivity disorder autistic disorder autoimmune polyendocrine syndrome autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal dominant polycystic kidney disease autosomal recessive distal hereditary motor neuronopathy 1 autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bacterial infectious disease bacterial sepsis benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma bladder carcinoma bone osteosarcoma brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ cherubism childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood hepatocellular carcinoma childhood leukemia childhood medulloblastoma childhood optic nerve glioma childhood osteosarcoma childhood spinal muscular atrophy cholangiocarcinoma cholera chondrosarcoma choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation congenital muscular dystrophy congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cystic fibrosis cystinosis cystinuria dengue disease depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis diarrhea diffuse large B-cell lymphoma disease of metabolism distal arthrogryposis distal myopathy duodenum cancer dysentery dysthymic disorder embryoma encephalitis encephalomyelitis endocarditis endocrine exophthalmos endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy episodic kinesigenic dyskinesia 1 esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension exostosis facioscapulohumeral muscular dystrophy familial hyperlipidemia familial hypertrophic cardiomyopathy familial retinoblastoma fibrillary astrocytoma fibrodysplasia ossificans progressiva fibrolamellar carcinoma fibromyalgia fibrosarcoma fibrous dysplasia follicular adenoma fragile X syndrome galactosemia gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma giant cell glioblastoma glaucoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease V glycogen storage disease VI glycogen storage disease VII glycogen storage disease glycoproteinosis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary breast ovarian cancer syndrome high grade glioma hyperglycemia hypertension hyperthyroidism hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypoparathyroidism hypothalamic disease idiopathic interstitial pneumonia immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome impulse control disorder influenza intermittent explosive disorder interstitial nephritis intestinal infectious disease intrahepatic cholangiocarcinoma intrinsic asthma irritant dermatitis juvenile pilocytic astrocytoma juvenile spinal muscular atrophy keratosis follicularis kidney cancer kidney disease kidney failure kleptomania large intestine cancer lateral sclerosis leishmaniasis leukemia leukoencephalopathy with vanishing white matter limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder malignant astrocytoma malignant mesothelioma malignant pleural mesothelioma maturity-onset diabetes of the young measles medulloblastoma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma meningitis methemoglobinemia microcystic adenoma microphthalmia mitochondrial metabolism disease mitochondrial myopathy mixed glioma mongolian spot motor neuron disease mucolipidosis II alpha/beta mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis VI mucopolysaccharidosis multiple acyl-CoA dehydrogenase deficiency multiple endocrine neoplasia type 1 multiple myeloma multiple sclerosis muscular dystrophy myasthenia gravis myelitis myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myositis ossificans myositis nasopharynx carcinoma nephritis nephroblastoma nephrolithiasis nephrosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neuromuscular disease neuropathy neurotic disorder non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver obesity obsolete Cushing's syndrome obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oculopharyngeal muscular dystrophy optic nerve glioma osteoarthritis osteoblastoma osteomalacia osteosarcoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis parathyroid gland disease periodontitis peripheral nervous system disease pheochromocytoma pilocytic astrocytoma placenta cancer pneumonia polycystic kidney disease 1 polycystic ovary syndrome polyneuropathy postinflammatory pulmonary fibrosis prediabetes syndrome primary hyperaldosteronism primary hyperoxaluria primary hyperparathyroidism primary immunodeficiency disease primary pigmented nodular adrenocortical disease primary pulmonary hypertension progeria progressive muscular atrophy prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohypoparathyroidism pseudopseudohypoparathyroidism pseudoxanthoma elasticum psoriasis psoriatic arthritis pulmonary fibrosis purine-pyrimidine metabolic disorder pustulosis of palm and sole pyelitis pyelonephritis pyoureter radiculopathy renal carcinoma renal cell carcinoma reticulosarcoma retinoblastoma rheumatoid arthritis rickets rippling muscle disease 2 sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sick sinus syndrome silent myocardial infarction situs inversus skin melanoma skin squamous cell carcinoma small intestine cancer steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma sulfhemoglobinemia systemic lupus erythematosus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyrotoxicosis trilateral retinoblastoma trypanosomiasis tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus typhus uremia uric acid nephrolithiasis urinary bladder cancer urinary tract obstruction uterine corpus cancer viral infectious disease visceral leishmaniasis von Hippel-Lindau disease yellow fever
P32189	Glycerol kinase	GK	1	1	Aland Island eye disease Becker muscular dystrophy Duchenne muscular dystrophy Kallmann syndrome Klinefelter syndrome Laron syndrome Patau syndrome Sheehan syndrome X-linked adrenal hypoplasia congenita achondroplasia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy chromosome Xp21 deletion syndrome cone-rod dystrophy congenital muscular dystrophy coronary artery disease diabetes mellitus distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypercholesterolemia fundus albipunctatus galactokinase deficiency galactosemia glycerol kinase deficiency hypertropia hypoglycemia hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism intellectual disability isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency learning disability limb-girdle muscular dystrophy mechanical strabismus muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy ophthalmoplegia osteoporosis panhypopituitarism placental insufficiency retinitis pigmentosa rippling muscle disease 2 strabismus tuberculosis type 2 diabetes mellitus
Q02083	N-acylethanolamine-hydrolyzing acid amidase	NAAA ASAHL PLT	6	10	Alagille syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Burkitt lymphoma DiGeorge syndrome Glanzmann's thrombasthenia Goodpasture syndrome Hantavirus hemorrhagic fever with renal syndrome Henoch-Schoenlein purpura Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Marfan syndrome Pick's disease Reye syndrome T-cell acute lymphoblastic leukemia Takayasu's arteritis abdominal obesity-metabolic syndrome 1 acrodermatitis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia adult acute lymphocytic leukemia adult respiratory distress syndrome anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atopic dermatitis bacterial sepsis bladder carcinoma blood coagulation disease bone marrow cancer cancer cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia colorectal cancer colorectal carcinoma coronary artery disease craniosynostosis dengue disease dermatitis diabetes mellitus diabetic ketoacidosis embryoma essential thrombocythemia granulomatosis with polyangiitis gray platelet syndrome heart disease hemophagocytic lymphohistiocytosis hepatitis C hepatocellular carcinoma hypersensitivity vasculitis inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer leukopenia liver cancer liver cirrhosis macrocytic anemia myelodysplastic syndrome myeloproliferative neoplasm newborn respiratory distress syndrome nicotine dependence obesity obsolete inherited blood coagulation disease obsolete type 1 diabetes mellitus 9 osteoarthritis platelet-type bleeding disorder 10 platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 pneumonia polyarteritis nodosa portal hypertension portal vein thrombosis primary pulmonary hypertension prostate cancer prostate carcinoma qualitative platelet defect situs inversus steatotic liver disease thalassemia thrombocytopenia thrombocytosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer velocardiofacial syndrome viral infectious disease yellow fever
Q9BY64	UDP-glucuronosyltransferase 2B28	UGT2B28	1	0	Addison's disease adrenal cortical hypofunction cancer colorectal cancer colorectal carcinoma hepatocellular carcinoma large intestine cancer liver cancer primary cutaneous amyloidosis prostate cancer prostate carcinoma
Q96IJ6	Mannose-1-phosphate guanyltransferase alpha	GMPPA	1	2	Addison's disease Down syndrome Laron syndrome achalasia achondroplasia adrenal cortical hypofunction blindness coloboma epilepsy intellectual disability learning disability megaesophagus microcephaly nonepidermolytic palmoplantar keratoderma optic atrophy palmoplantar keratosis sensorineural hearing loss triple-A syndrome visual epilepsy
O95470	Sphingosine-1-phosphate lyase 1	SGPL1 KIAA1252	1	2	Addison's disease Alzheimer's disease Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IMAGe syndrome Marfan syndrome Niemann-Pick disease Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome adrenal cortical hypofunction alveolar rhabdomyosarcoma anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome autosomal recessive congenital ichthyosis 1 breast cancer breast carcinoma cancer childhood cerebral astrocytoma chondrodysplasia-pseudohermaphroditism syndrome chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital hypothyroidism congenital ptosis congestive heart failure coronary artery disease cryptorchidism embryoma endometrial cancer endometrial carcinoma epilepsy familial nephrotic syndrome fibrillary astrocytoma focal segmental glomerulosclerosis gastroenteritis gemistocytic astrocytoma glucose intolerance high grade glioma hyperglycemia hypertropia hypoglycemia hypogonadism hypothyroidism ichthyosis idiopathic interstitial pneumonia ileitis ileocolitis inherited metabolic disorder juvenile pilocytic astrocytoma keratosis follicularis kidney disease large intestine cancer laryngeal disease lipoid nephrosis lymphopenia malignant astrocytoma mechanical strabismus microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly mongolian spot multiple sclerosis myxedema nephrosis nephrotic syndrome type 14 nephrotic syndrome type 1 nephrotic syndrome neurodegenerative disease neuropathy obsolete congenital ichthyosiform erythroderma ophthalmoplegia peripheral nervous system disease pilocytic astrocytoma pneumonia polyneuropathy postinflammatory pulmonary fibrosis prediabetes syndrome proteinuria protoplasmic astrocytoma pseudoxanthoma elasticum ptosis pulmonary fibrosis sensorineural hearing loss situs inversus sphingolipidosis strabismus subependymal giant cell astrocytoma tracheal disease triple-A syndrome tuberous sclerosis uterine corpus cancer visual epilepsy
P51659	Peroxisomal multifunctional enzyme type 2	HSD17B4 EDH17B4 SDR8C1	5	2	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Clouston syndrome D-bifunctional protein deficiency Friedreich ataxia Laron syndrome Perrault syndrome Pick's disease Refsum disease Reye syndrome Turner syndrome West syndrome Zellweger syndrome achondroplasia adrenal carcinoma adrenal cortex cancer adrenal cortical hypofunction adrenocortical carcinoma adrenoleukodystrophy alpha-methylacyl-CoA racemase deficiency androgen insensitivity syndrome beta-ketothiolase deficiency blindness breast cancer breast carcinoma cancer carnitine palmitoyltransferase I deficiency cerebellar ataxia cerebellar disease cerebral degeneration cholestasis clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital bile acid synthesis defect 4 congenital nystagmus craniosynostosis cystic kidney disease diabetic ketoacidosis dissociated nystagmus endometrial cancer endometrial carcinoma epilepsy essential hypertension gonadal dysgenesis hepatocellular carcinoma hereditary ataxia hydrocephalus hypertension hypertropia infantile Refsum disease large intestine cancer leukodystrophy liver cancer liver carcinoma mechanical strabismus non-congenital cyst of kidney obsolete infantile epileptic encephalopathy obsolete type 1 diabetes mellitus 9 ophthalmoplegia osteoporosis pathologic nystagmus peroxisomal disease peroxisome biogenesis disorder 1A polycystic ovary syndrome polyhydramnios premature menopause primary cerebellar degeneration primary ovarian insufficiency prostate cancer prostate carcinoma rhizomelic chondrodysplasia punctata type 1 scoliosis seminoma sensorineural hearing loss spontaneous ocular nystagmus steatotic liver disease strabismus testicular cancer testicular germ cell cancer type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus uterine corpus cancer visual epilepsy
P15104	Glutamine synthetase	GLUL GLNS	1	1	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Chagas disease Clostridium difficile colitis Graves' disease Griscelli syndrome type 2 Lafora disease Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Stiff-Person syndrome Wernicke-Korsakoff syndrome Wilson disease acquired immunodeficiency syndrome acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adrenal cortical hypofunction adrenoleukodystrophy adult oligodendroglioma alcohol dependence alcohol use disorder alcoholic liver cirrhosis alternating hemiplegia of childhood amino acid metabolic disorder amnestic disorder amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis atrophic gastritis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy bacterial sepsis basal ganglia disease bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma brain cancer brain disease brain stem infarction breast cancer breast carcinoma cancer cannabis abuse cannabis dependence carbamoyl phosphate synthetase I deficiency disease carcinoma cardiovascular system disease central nervous system cancer central nervous system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease childhood oligodendroglioma childhood osteosarcoma cholangiocarcinoma chronic fatigue syndrome complex partial epilepsy congenital hypothyroidism coronary artery disease dental caries dentin caries depressive disorder dermatitis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of mental health disease of metabolism dysthymic disorder embryoma encephalitis encephalomyelitis epilepsy epithelioid sarcoma exanthem follicular adenoma giant cell glioblastoma glioblastoma gliosarcoma heart disease hemochromatosis hepatic coma hepatic encephalopathy hepatoblastoma hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hydrocephalus hyperglycemia hyperthyroidism hypothyroidism immune system disease intrahepatic cholangiocarcinoma iron metabolism disease irritable bowel syndrome lingual-facial-buccal dyskinesia liver cancer liver cirrhosis lung benign neoplasm lung cancer lung non-small cell carcinoma major depressive disorder melancholic depression microcystic adenoma microphthalmia mixed glioma mixed oligodendroglioma-astrocytoma molybdenum cofactor deficiency type A mood disorder movement disease myelitis myopia myxedema nervous system disease neurocirculatory asthenia neurodegenerative disease neurotic disorder nutmeg liver obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete type 1 diabetes mellitus 9 oligodendroglioma ornithine carbamoyltransferase deficiency osteosarcoma pancreatic cancer pancreatic carcinoma pancreatic ductal carcinoma papillary adenoma placental insufficiency progressive muscular atrophy prostate cancer prostate carcinoma psychotic disorder purpura retinal disease retinitis retrograde amnesia sarcoma sarcomatoid carcinoma schizoaffective disorder schizophrenia schizophreniform disorder secondary Parkinson disease situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell sarcoma steatotic liver disease stomach cancer stomach carcinoma temporal lobe epilepsy thyrotoxicosis trypanosomiasis tuberculosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urea cycle disorder visual epilepsy
Q2KHT3	Protein CLEC16A	CLEC16A KIAA0350	1	1	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Behcet's disease Crohn's colitis Crohn's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma, nodular sclerosis Hodgkin's lymphoma Pick's disease Reye syndrome Vogt-Koyanagi-Harada disease abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenal cortical hypofunction allergic asthma allergic disease allergic rhinitis alopecia areata ankylosing spondylitis ascending cholangitis asthma atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome celiac disease cerebral degeneration cerebral infarction cerebrovascular disease cholangitis chronic kidney disease common variable immunodeficiency coronary thrombosis dermatitis diabetes mellitus diabetic ketoacidosis eosinophilic esophagitis essential hypertension glucose intolerance hypertension immune system disease immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma juvenile rheumatoid arthritis multiple sclerosis myocardial infarction neurodegenerative disease obsolete type 1 diabetes mellitus 9 parapsoriasis prediabetes syndrome primary biliary cholangitis primary immunodeficiency disease primary sclerosing cholangitis psoriasis pustulosis of palm and sole rheumatoid arthritis sclerosing cholangitis selective IgA deficiency disease silent myocardial infarction subacute bacterial endocarditis suppurative cholangitis systemic lupus erythematosus type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis vasomotor rhinitis
P14555	Phospholipase A2, membrane associated	PLA2G2A PLA2B PLA2L RASF-A	1	1	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Behcet's disease Crohn's colitis Crohn's disease Glanzmann's thrombasthenia Graves' disease Machado-Joseph disease Norum disease Pick's disease Reye syndrome Stiff-Person syndrome Tangier disease abdominal obesity-metabolic syndrome 1 abetalipoproteinemia acoustic neuroma acute chest syndrome acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adrenal cortical hypofunction adult respiratory distress syndrome allergic asthma alternating hemiplegia of childhood anaplastic astrocytoma angiomatous meningioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy ascending cholangitis asthma atherosclerosis autoimmune polyendocrine syndrome autonomic neuropathy autosomal dominant cerebellar ataxia bacterial infectious disease bacterial sepsis basal ganglia disease benign meningioma bipolar disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease carotid artery disease central nervous system disease central retinal vein occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma cholangitis cholecystolithiasis choledocholithiasis cholelithiasis cholestasis choreaacanthocytosis chronic fatigue syndrome chronic interstitial cystitis chronic kidney disease chronic obstructive pulmonary disease clear cell meningioma colitis colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism congestive heart failure coronary artery disease coronary stenosis coronary thrombosis craniosynostosis cribriform carcinoma cystic fibrosis depressive disorder diabetes mellitus diabetic ketoacidosis dysplastic nevus syndrome dysthymic disorder embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia fibrillary astrocytoma fibrous meningioma fragile X-associated tremor/ataxia syndrome gastric adenocarcinoma gastroduodenal Crohn's disease gastroenteritis gemistocytic astrocytoma glomerulonephritis granular cell carcinoma gray platelet syndrome heart disease hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia hyperthyroidism hypolipoproteinemia hypothyroidism ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome inflammatory bowel disease 1 inflammatory bowel disease interstitial cystitis intestinal benign neoplasm intestinal cancer intrahepatic cholestasis of pregnancy intraorbital meningioma intraventricular meningioma intrinsic asthma ischiocoxopodopatellar syndrome islet cell tumor jejunoileitis juvenile pilocytic astrocytoma keratitis keratoconjunctivitis kidney disease large intestine cancer liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma major depressive disorder malignant astrocytoma melancholic depression melanoma membranous glomerulonephritis meningioma meningothelial meningioma microcystic meningioma multiple sclerosis myelitis myocardial infarction myxedema nephritis nephrosis nervous system disease neuroblastoma neurodegenerative disease neurotic disorder newborn respiratory distress syndrome nontoxic goiter nutmeg liver obesity obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia olfactory groove meningioma optic neuritis pancreas disease pancreatitis papillary adenocarcinoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma pilocytic astrocytoma pituitary adenoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 pleurisy pneumonia pre-eclampsia primary sclerosing cholangitis prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma pseudosarcomatous fibromatosis psoriasis pulmonary coin lesion pustulosis of palm and sole pyoureter qualitative platelet defect rheumatoid arthritis sarcomatoid carcinoma schizophrenia sclerosing cholangitis secretory meningioma sickle cell anemia signet ring cell adenocarcinoma silent myocardial infarction skin melanoma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma suppurative cholangitis systemic lupus erythematosus temporal arteritis teratocarcinoma thrombophilia thyroid gland papillary carcinoma thyrotoxicosis transitional meningioma transthyretin amyloidosis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus cancer vascular dementia vascular disease visual epilepsy
Q29983	MHC class I polypeptide-related sequence A	MICA PERB11.1	7	7	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Barrett's esophagus Behcet's disease Brucella melitensis brucellosis Burkitt lymphoma Crohn's colitis Crohn's disease Evans' syndrome Goodpasture syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Japanese encephalitis Meniere's disease Pick's disease Reye syndrome Schwartz-Jampel syndrome 1 St. Louis encephalitis Stevens-Johnson syndrome Takayasu's arteritis X-linked dilated cardiomyopathy acquired immunodeficiency syndrome acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adrenal cortical hypofunction allergic disease alveolar echinococcosis amyloidosis ankylosing spondylitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura azoospermia basal cell carcinoma bone osteosarcoma breast cancer breast carcinoma breast fibrocystic disease bronchiectasis bronchus cancer bronchus carcinoma brucellosis cancer carcinoma cardiovascular system disease celiac disease central nervous system cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood leukemia childhood osteosarcoma cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma chronic kidney disease chronic myeloid leukemia ciliary body disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer common wart complex partial epilepsy coronary aneurysm coronary artery disease coronary thrombosis cribriform carcinoma dengue disease dengue hemorrhagic fever denture stomatitis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of mental health distal arthrogryposis embryoma endolymphatic hydrops enterobiasis epilepsy esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial mediterranean fever familial retinoblastoma gallbladder disease gastrointestinal system disease gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma granulomatosis with polyangiitis head and neck cancer head and neck squamous cell carcinoma heart disease hematologic cancer hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intestinal schistosomiasis iris disease islet cell tumor kidney cancer large intestine cancer leech infestation leprosy leukemia leukoencephalopathy with vanishing white matter liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma malignant conjunctival melanoma maxillary sinus squamous cell carcinoma melanoma mevalonic aciduria microglandular adenosis mixed glioma multiple epiphyseal dysplasia multiple myeloma multiple sclerosis myiasis myocardial infarction nasopharynx carcinoma neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 oral submucous fibrosis osteochondrodysplasia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma panuveitis papillary renal cell carcinoma parapsoriasis pneumonia polyarteritis nodosa primary immunodeficiency disease primary sclerosing cholangitis prostate cancer prostate carcinoma psoriasis psoriatic arthritis psychotic disorder pustulosis of palm and sole rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease retinoblastoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schistosomiasis sclerosing cholangitis sebaceous carcinoma silent myocardial infarction skin benign neoplasm skin cancer skin carcinoma skin melanoma spondylitis spondyloarthropathy spondylosis squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma stomatitis sweat gland cancer systemic lupus erythematosus temporal arteritis temporal lobe epilepsy thromboangiitis obliterans thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma toxoplasmosis trichinosis trilateral retinoblastoma trypanosomiasis tuberculosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis ulcerative stomatitis uveal melanoma uveitis vasculitis viral infectious disease visual epilepsy yellow fever
P05093	Steroid 17-alpha-hydroxylase/17,20 lyase	CYP17A1 CYP17 S17AH	0	1	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Barrett's esophagus Bartter disease Clouston syndrome Conn's syndrome Down syndrome Froelich syndrome Kallmann syndrome Langerhans-cell histiocytosis Laron syndrome Liddle syndrome Lynch syndrome Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sertoli cell-only syndrome Sheehan syndrome Waterhouse-Friderichsen syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal cortical hypofunction adrenal gland cancer adrenal gland hyperfunction adrenocortical carcinoma adult lymphoma alopecia amenorrhea androgenic alopecia anorexia nervosa anxiety disorder aortic valve insufficiency arteriosclerotic cardiovascular disease atherosclerosis autoimmune hepatitis autosomal dominant familial periodic fever biliary tract cancer brain cancer breast cancer breast carcinoma breast disease breast fibroadenoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cerebral degeneration childhood lymphoma cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chronic fatigue syndrome clear cell renal cell carcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital adrenal hyperplasia coronary artery disease coronary thrombosis cribriform carcinoma cryptorchidism depressive disorder diabetes mellitus diffuse large B-cell lymphoma disorder of sexual development embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis essential hypertension female breast carcinoma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma granulosa cell tumor gynecomastia hepatitis B hepatitis C hepatitis hepatocellular carcinoma hermaphroditism herpes zoster high grade glioma hyperandrogenism hyperinsulinism hypertension hypertrophy of breast hypoactive sexual desire disorder hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypokalemia hypopituitarism hypospadias hypothalamic disease inclusion body myositis infant gynecomastia infertility intrahepatic cholangiocarcinoma isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency kidney cancer lactocele large intestine cancer leiomyoma lesion of sciatic nerve lingual-facial-buccal dyskinesia liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder male breast cancer male infertility malignant hypertension melancholic depression microcystic adenoma microglandular adenosis mixed germ cell cancer mixed glioma multiple sclerosis myelitis myocardial infarction myofibroma neuropathy nodular prostate non-Hodgkin lymphoma nutmeg liver obsolete Cushing's syndrome obsolete melancholia obsolete ymphosarcoma oligospermia osteoporosis ovarian cancer ovarian carcinoma ovarian cyst pancreatic cancer pancreatic carcinoma pancreatitis panhypopituitarism papillary adenoma peripheral nervous system disease peroxisome biogenesis disorder 4A phobic disorder placental insufficiency polycystic ovary syndrome polyneuropathy primary failure of tooth eruption primary hyperaldosteronism primary ovarian insufficiency prostate cancer prostate carcinoma prostate disease prostatic adenoma pseudohermaphroditism rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma sciatic neuropathy seminoma silent myocardial infarction situs inversus spondyloarthropathy spondylosis steatotic liver disease testicular cancer testicular germ cell cancer testis seminoma thymus gland disease trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus uterine corpus cancer uterine fibroid
P38571	Lysosomal acid lipase/cholesteryl ester hydrolase	LIPA	9	47	Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Balkan nephropathy Marfan syndrome Niemann-Pick disease type C1 Niemann-Pick disease Peyronie's disease Pick's disease Reye syndrome Wolman disease abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute chest syndrome acute lymphoblastic leukemia acute myocardial infarction adrenal cortical hypofunction adult acute lymphocytic leukemia allergic asthma anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anemia anus benign neoplasm anus cancer anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis balanitis xerotica obliterans cancer cardiac arrest cardiovascular system disease cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia cholestasis cholesterol ester storage disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease coronary thrombosis depressive disorder diabetes mellitus diarrhea dysthymic disorder essential hypertension familial hypercholesterolemia familial hyperlipidemia gallbladder disease generalized anxiety disorder heart disease hepatitis B hepatitis C human immunodeficiency virus infectious disease hypertension intrinsic asthma karyomegalic interstitial nephritis kwashiorkor lipid storage disease liver cirrhosis liver disease lung squamous cell carcinoma lysosomal acid lipase deficiency lysosomal storage disease macrocytic anemia major depressive disorder marasmus melancholic depression melanoma myocardial infarction neurotic disorder nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete melancholia obsolete steatorrhea pancytopenia papillary renal cell carcinoma phobic disorder primary pulmonary hypertension prostate cancer prostate carcinoma protein-energy malnutrition renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction situs inversus skin melanoma squamous cell carcinoma steatotic liver disease tongue squamous cell carcinoma tuberous sclerosis type 2 diabetes mellitus
Q5NDL2	EGF domain-specific O-linked N-acetylglucosamine transferase	EOGT AER61 C3orf64 EOGT1	3	7	Adams-Oliver syndrome Clouston syndrome alopecia arteriovenous malformation autosomal recessive polycystic kidney disease cataract clubfoot communicating hydrocephalus epilepsy hydrocephalus hypertropia intellectual disability learning disability leukopenia mechanical strabismus microphthalmia obstructive hydrocephalus ophthalmoplegia periventricular leukomalacia polycystic kidney disease 4 portal hypertension primary pulmonary hypertension senile degeneration of brain strabismus tetralogy of Fallot thrombocytopenia visual epilepsy
P05186	Alkaline phosphatase, tissue-nonspecific isozyme	ALPL	10	38	ARC syndrome Ehlers-Danlos syndrome Laron syndrome Loeffler syndrome Werner syndrome achondroplasia acoustic neuroma adult hypophosphatasia allergic asthma anemia angiomatous meningioma ankylosing spondylitis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthrogryposis, renal dysfunction, and cholestasis 1 arthropathy asthma atherosclerosis autosomal recessive osteopetrosis 7 benign meningioma bone disease bone osteosarcoma breast cancer breast carcinoma calcinosis calcium metabolism disease campomelic dysplasia cancer cartilage disease cerebral convexity meningioma childhood hypophosphatasia chondrocalcinosis clear cell meningioma colitis connective tissue disease coronary artery disease craniosynostosis dental caries dentin caries depressive disorder diabetes mellitus dysthymic disorder embryoma embryonal carcinoma enophthalmos eosinophilic pneumonia epilepsy fibrous meningioma focal epilepsy gastroenteritis generalized anxiety disorder glomerulonephritis hereditary elliptocytosis hypercalcemia hyperostosis hyperphosphatemic familial tumoral calcinosis hypophosphatasia ileitis ileocolitis infantile hypophosphatasia inherited metabolic disorder intraorbital meningioma intraventricular meningioma intrinsic asthma keratosis follicularis kidney disease macrocytic anemia major depressive disorder melancholic depression meningioma meningothelial meningioma microcystic meningioma mongolian spot mucopolysaccharidosis IV multiple epiphyseal dysplasia musculoskeletal system disease nephritis nephrocalcinosis nephrolithiasis nephrosis neurotic disorder nutmeg liver obesity obsolete exophthalmos obsolete melancholia olfactory groove meningioma orbital disease osteoarthritis osteochondrodysplasia osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteomalacia osteopetrosis osteoporosis osteosarcoma osteosclerosis parasagittal meningioma partial motor epilepsy phobic disorder phosphorus metabolism disease pituitary adenoma polyhydramnios progeria prostate cancer prostate carcinoma psammomatous meningioma pseudoxanthoma elasticum pulmonary eosinophilia pyoureter rickets schizophrenia 10 schizophrenia secondary hyperparathyroidism secretory meningioma spinal meningioma transitional meningioma type 2 diabetes mellitus uric acid nephrolithiasis visual epilepsy
P19440	Glutathione hydrolase 1 proenzyme	GGT1 GGT	7	133	ARC syndrome Aicardi-Goutieres syndrome Alagille syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Leber hereditary optic neuropathy Pick's disease Potter's syndrome Reye syndrome Werner syndrome abdominal obesity-metabolic syndrome 1 acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adrenoleukodystrophy adult acute lymphocytic leukemia alcohol dependence alcohol use disorder alcoholic liver cirrhosis allergic asthma ameloblastoma anthracosilicosis anthracosis arteriosclerotic cardiovascular disease arthritis arthrogryposis, renal dysfunction, and cholestasis 1 arthropathy asbestosis asthma atherosclerosis atrial fibrillation benign recurrent intrahepatic cholestasis bile duct adenocarcinoma bile duct carcinoma biliary atresia breast apocrine carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia cholangiocarcinoma cholecystitis cholestasis chromophobe renal cell carcinoma chronic kidney disease citrullinemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma common wart coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy differentiated thyroid gland carcinoma distal arthrogryposis embryoma endometrial cancer endometrial carcinoma epithelioid leiomyosarcoma essential hypertension essential thrombocythemia exfoliation syndrome familial hyperlipidemia gallbladder cancer gallbladder carcinoma gallbladder disease gamma-glutamyl transpeptidase deficiency gelatinous drop-like corneal dystrophy gestational trophoblastic neoplasm glucose intolerance glycogen storage disease VIII granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis B hepatitis C hepatitis hepatocellular carcinoma hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileus inflammatory bowel disease inflammatory liposarcoma influenza intellectual disability interstitial lung disease intestinal obstruction intrahepatic cholangiocarcinoma intrahepatic cholestasis intrinsic asthma kidney failure large intestine cancer learning disability leiomyosarcoma leukemia liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lymphoma maturity-onset diabetes of the young melanoma mitochondrial metabolism disease mitochondrial myopathy morbid obesity myelodysplastic syndrome myocardial infarction myxoid leiomyosarcoma nasopharynx carcinoma neonatal jaundice nodular prostate nonpapillary renal cell carcinoma nontoxic goiter nutmeg liver obesity obsolete dyspepsia obsolete ymphosarcoma osteoarthritis osteomalacia ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma peptic ulcer disease periodontitis polycystic ovary syndrome prediabetes syndrome primary biliary cholangitis progeria progressive familial intrahepatic cholestasis 1 progressive familial intrahepatic cholestasis progressive supranuclear palsy prostate cancer prostate carcinoma prostatic adenoma renal carcinoma renal cell carcinoma rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing liposarcoma seminoma silent myocardial infarction skin benign neoplasm skin cancer skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma tauopathy testicular cancer testicular germ cell cancer testis seminoma thrombocytopenia thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus uremia uterine corpus cancer viral infectious disease well-differentiated liposarcoma

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