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UniProt ID	Protein Name	Gene Symbol ▼	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology
Q9UKJ1	Paired immunoglobulin-like type 2 receptor alpha	PILRA	2	7
Q9Y2I7	1-phosphatidylinositol 3-phosphate 5-kinase	PIKFYVE KIAA0981 PIP5K3	4	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 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Crohn's colitis Crohn's disease Fleck corneal dystrophy Pick's disease Reye syndrome breast cancer cancer cardiomyopathy cerebral degeneration embryoma endomyocardial fibrosis gestational diabetes hypertrophic cardiomyopathy legionellosis multiple myeloma obsolete asthenopia obsolete ymphosarcoma pneumonia transitional cell carcinoma
Q99570	Phosphoinositide 3-kinase regulatory subunit 4	PIK3R4 VPS15	4	1
Q92569	Phosphatidylinositol 3-kinase regulatory subunit gamma	PIK3R3	1	1
Q96FE7	Phosphoinositide-3-kinase-interacting protein 1	PIK3IP1 HGFL	6	20
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
P42338	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	PIK3CB PIK3C1	3	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 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 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 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 blepharophimosis bone cancer bone disease bone marrow cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain disease brain ischemia brain stem infarction breast adenocarcinoma breast cancer breast carcinoma breast ductal carcinoma breast malignant phyllodes tumor breast metaplastic carcinoma bronchus cancer bronchus carcinoma cancer capillary disease capillary hemangioma carcinoma 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 interstitial cystitis chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chronic ulcer of skin 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 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 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 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 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 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 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 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 microcephaly 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 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 nicotine dependence 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 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 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 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 atrophy 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 thrombosis thrombotic thrombocytopenic purpura 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 vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visceral leishmaniasis visual epilepsy vitiligo von Hippel-Lindau disease yellow fever
O75747	Phosphatidylinositol 3-kinase C2 domain-containing subunit gamma	PIK3C2G	1	1	acute myocardial infarction cancer coronary thrombosis diabetes mellitus embryoma familial hyperlipidemia myocardial infarction neuroblastoma progressive supranuclear palsy silent myocardial infarction type 2 diabetes mellitus
O00443	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	PIK3C2A	7	1	Duchenne muscular dystrophy Gamstorp-Wohlfart syndrome Kaposi's sarcoma Laron syndrome Norum disease Tangier disease Unverricht-Lundborg syndrome abetalipoproteinemia achondroplasia acquired immunodeficiency syndrome acute myocardial infarction anodontia arteriosclerotic cardiovascular disease atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative 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 blepharospasm breast cancer breast carcinoma cancer choreaacanthocytosis chronic monocytic leukemia congenital hypothyroidism congenital muscular dystrophy coronary artery disease coronary thrombosis cryptorchidism diabetes mellitus disease of mental health distal myopathy early myoclonic encephalopathy embryoma episodic ataxia type 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia focal hand dystonia gastrointestinal stromal tumor glaucoma hypercalcemia hyperphosphatemia hypolipoproteinemia hypothyroidism leukopenia limb-girdle muscular dystrophy lymphoid leukemia muscular dystrophy myeloid leukemia myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myositis myotonic dystrophy type 2 myxedema nephrocalcinosis neuroleptic malignant syndrome nutmeg liver 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 phosphorus metabolism disease placental insufficiency protein-losing enteropathy psychotic disorder rippling muscle disease 2 schizoaffective disorder schizophrenia schizophreniform disorder scoliosis sensorineural hearing loss silent myocardial infarction systemic lupus erythematosus thrombocytopenia tibial muscular dystrophy tooth agenesis type 2 diabetes mellitus
Q9NWS0	PIH1 domain-containing protein 1	PIH1D1 NOP17	0	1
Q8TBF5	Phosphatidylinositol-glycan biosynthesis class X protein	PIGX	3	3	Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Laurence-Moon syndrome allergic asthma allergic disease asthma breast cancer breast carcinoma cancer dermatitis embryoma intrinsic asthma polydactyly
Q7Z7B1	Phosphatidylinositol-glycan biosynthesis class W protein	PIGW	1	0	Cogan syndrome Hirschsprung's disease Unverricht-Lundborg syndrome West syndrome alternating hemiplegia of childhood autonomic neuropathy blepharospasm capillary disease central nervous system disease congenital diaphragmatic hernia craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia intellectual disability learning disability monocular esotropia nervous system disease obsolete infantile epileptic encephalopathy oligohydramnios pneumonia scoliosis syndromic X-linked intellectual disability 94 telangiectasis visual epilepsy
Q9H490	Phosphatidylinositol glycan anchor biosynthesis class U protein	PIGU CDC91L1	0	1	bladder carcinoma breast cancer breast carcinoma cancer carcinoma cerebral degeneration colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma differentiated thyroid gland carcinoma dysplastic nevus syndrome embryoma epilepsy hepatocellular carcinoma intellectual disability large intestine cancer learning disability liver cancer melanoma nasopharynx carcinoma papillary carcinoma sarcomatoid carcinoma scoliosis skin benign neoplasm skin cancer skin melanoma urinary bladder cancer visual epilepsy
Q969N2	GPI transamidase component PIG-T	PIGT	5	16	Marfan syndrome angioedema blindness brain disease breast cancer breast carcinoma calcinosis calcium metabolism disease cerebral degeneration congenital nystagmus craniosynostosis cystic kidney disease dermatographia diarrhea dissociated nystagmus epilepsy esotropia fibromyalgia hemolytic anemia hypercalcemia hyperopia hypertropia hypophosphatasia mechanical strabismus monocular esotropia multiple congenital anomalies-hypotonia-seizures syndrome 3 myositis nephrocalcinosis non-congenital cyst of kidney ophthalmoplegia osteoporosis paroxysmal nocturnal hemoglobinuria patent ductus arteriosus pathologic nystagmus phosphorus metabolism disease restrictive cardiomyopathy scoliosis situs inversus spontaneous ocular nystagmus strabismus tuberous sclerosis urticaria visual epilepsy
Q96S52	GPI transamidase component PIG-S	PIGS	4	7	breast cancer cancer congenital nystagmus dissociated nystagmus embryoma epilepsy fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome gingival hypertrophy gingival overgrowth hepatocellular carcinoma liver cancer microcephaly omphalocele pathologic nystagmus spontaneous ocular nystagmus umbilical hernia visual epilepsy
P01833	Polymeric immunoglobulin receptor	PIGR	11	326
Q8TEQ8	GPI ethanolamine phosphate transferase 3	PIGO	4	2	Cogan syndrome Hirschsprung's disease Marfan syndrome Unverricht-Lundborg syndrome absence epilepsy blepharospasm capillary disease childhood absence epilepsy cleft palate colorectal cancer colorectal carcinoma craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia imperforate anus intellectual disability isolated cleft palate large intestine cancer learning disability monocular esotropia nonepidermolytic palmoplantar keratoderma oligohydramnios palmoplantar keratosis scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability 94 telangiectasis tuberous sclerosis visual epilepsy
O95427	GPI ethanolamine phosphate transferase 1	PIGN MCD4	4	8	Dandy-Walker syndrome Hirschsprung's disease Marfan syndrome Meckel syndrome Miller-Dieker lissencephaly syndrome Paget's disease of bone acute monocytic leukemia acute myeloid leukemia amblyopia atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autosomal dominant polycystic kidney disease basal ganglia disease blepharitis blepharospasm cerebral degeneration chromosome 17p13.1 deletion syndrome chronic recurrent multifocal osteomyelitis cleft palate colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital nystagmus cryptorchidism dissociated nystagmus duodenal atresia epilepsy esophagitis esotropia essential thrombocythemia focal hand dystonia gastroesophageal reflux disease gingival hypertrophy gingival overgrowth heart septal defect holoprosencephaly 1 holoprosencephaly hydrocephalus hydronephrosis hypospadias idiopathic interstitial pneumonia imperforate anus intellectual disability isolated cleft palate large intestine cancer learning disability lingual-facial-buccal dyskinesia lissencephaly lung adenocarcinoma lung cancer mammary Paget's disease microphthalmia monocular esotropia movement disease multiple congenital anomalies-hypotonia-seizures syndrome 1 myelodysplastic syndrome omphalocele patent ductus arteriosus patent foramen ovale pathologic nystagmus peptic esophagitis polyhydramnios postinflammatory pulmonary fibrosis primary pulmonary hypertension pulmonary fibrosis recurrent corneal erosion renal agenesis situs inversus spontaneous ocular nystagmus strabismic amblyopia tetralogy of Fallot tuberous sclerosis umbilical hernia vesicoureteral reflux visual epilepsy
Q92643	GPI-anchor transamidase	PIGK GPI8	3	1	adult lymphoma cancer central nervous system lymphoma colorectal cancer colorectal carcinoma hepatocellular carcinoma large intestine cancer liver cancer lymphoma obsolete ymphosarcoma
Q5H8A4	GPI ethanolamine phosphate transferase 2	PIGG GPI7	1	0	cerebral degeneration epilepsy intellectual disability learning disability placental insufficiency visual epilepsy
Q92521	GPI mannosyltransferase 3	PIGB	2	0	axonal neuropathy epilepsy intellectual disability learning disability visual epilepsy
P37287	Phosphatidylinositol N-acetylglucosaminyltransferase subunit A	PIGA	1	0	Barrett's esophagus Burkitt lymphoma Hirschsprung's disease Marfan syndrome Miller-Dieker lissencephaly syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Unverricht-Lundborg syndrome West syndrome acute myeloid leukemia acute myocardial infarction antithrombin III deficiency aplastic anemia atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect atypical hemolytic-uremic syndrome autoimmune disease autoimmune lymphoproliferative syndrome autosomal recessive congenital ichthyosis 4B blepharospasm blood coagulation disease bone marrow cancer brain disease cancer chondroma chromosome 17p13.1 deletion syndrome coronary thrombosis dental caries dentin caries developmental and epileptic encephalopathy 3 early infantile epileptic encephalopathy early myoclonic encephalopathy embryoma epilepsy esophagitis esophagus adenocarcinoma essential thrombocythemia extramedullary plasmacytoma fetal erythroblastosis focal hand dystonia gastroesophageal reflux disease gingival hypertrophy gingival overgrowth hematopoietic system disease hemoglobinuria hemolytic anemia hemolytic-uremic syndrome immune system disease inflammatory bowel disease intellectual disability learning disability lissencephaly multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple myeloma myelodysplastic syndrome myeloproliferative neoplasm myocardial infarction obsolete congenital ichthyosiform erythroderma obsolete infantile epileptic encephalopathy paroxysmal nocturnal hemoglobinuria patent foramen ovale peptic esophagitis plasma cell neoplasm plasmacytoma polycythemia vera primary pulmonary hypertension protein C deficiency protein S deficiency pulmonary embolism sensorineural hearing loss silent myocardial infarction situs inversus thrombophilia thrombotic thrombocytopenic purpura transient cerebral ischemia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis vertebrobasilar insufficiency visual epilepsy
Q9H5I5	Piezo-type mechanosensitive ion channel component 2	PIEZO2 C18orf30 C18orf58 FAM38B	7	4
Q92508	Piezo-type mechanosensitive ion channel component 1	PIEZO1 FAM38A KIAA0233	3	10

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