GlyCosmos Portal

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UniProt ID ▲	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology
O00322	Uroplakin-1a	UPK1A TSPAN21	1	0
O00327	Basic helix-loop-helix ARNT-like protein 1	BMAL1 ARNTL BHLHE5 MOP3 PASD3	1	1
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
O00330	Pyruvate dehydrogenase protein X component, mitochondrial	PDHX PDX1	1	1	B-cell lymphoma Leigh disease MHC class II deficiency Zollinger-Ellison syndrome adenocarcinoma adenoma adenosine deaminase deficiency brain disease breast cancer breast carcinoma cancer colorectal cancer colorectal carcinoma craniosynostosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis disease of metabolism dystonia embryoma endocrine pancreas disease epilepsy familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 granular cell carcinoma hyperglycemia hyperinsulinemic hypoglycemia hyperinsulinism in situ carcinoma insulinoma intellectual disability kidney cancer lactic acidosis large intestine cancer learning disability locked-in syndrome maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young microcephaly microphthalmia neonatal diabetes obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma optic atrophy ovarian carcinoma ovarian mucinous neoplasm ovarian papillary neoplasm pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic ductal carcinoma paraplegia patent ductus arteriosus placental insufficiency polycystic kidney disease 1 primary biliary cholangitis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency quadriplegia severe combined immunodeficiency systemic lupus erythematosus transient neonatal diabetes mellitus 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 visual epilepsy
O00337	Sodium/nucleoside cotransporter 1	SLC28A1 CNT1	2	0
O00338	Sulfotransferase 1C2	SULT1C2 SULT1C1	2	1
O00339	Matrilin-2	MATN2	10	19
O00341	Excitatory amino acid transporter 5	SLC1A7 EAAT5	1	0
O00391	Sulfhydryl oxidase 1	QSOX1 QSCN6	28	38
O00398	Putative P2Y purinoceptor 10	P2RY10	4	2
O00400	Acetyl-coenzyme A transporter 1	SLC33A1 ACATN AT1	1	0	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 Bartter disease Charcot-Marie-Tooth disease type 5 Conn's syndrome Henoch-Schoenlein purpura MASA syndrome Marfan syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome SPOAN syndrome Troyer syndrome Waterhouse-Friderichsen syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acute myocardial infarction adenocarcinoma adenoma adrenal gland cancer allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation autism spectrum disorder autistic disorder bestrophinopathy brain disease brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease chronic kidney disease colitis colorectal cancer colorectal carcinoma congenital nystagmus congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma deafness-dystonia-optic neuronopathy syndrome dementia depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus dysthymic disorder embryoma endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy epithelioid leiomyosarcoma essential hypertension familial hypertrophic cardiomyopathy focal epilepsy follicular adenoma gastroenteritis generalized anxiety disorder glomerulonephritis granular cell carcinoma heart disease hepatoblastoma hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia hyperhomocysteinemia hypersensitivity vasculitis hypertension hypertensive heart disease hypertrophic cardiomyopathy ileitis ileocolitis intellectual disability intrinsic asthma kidney disease large intestine cancer learning disability leiomyosarcoma liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma major depressive disorder malignant hypertension melancholic depression melanoma microcystic adenoma myocardial infarction myxoid leiomyosarcoma nephritis nephrosis neurodegenerative disease neurotic disorder nodular prostate nutmeg liver obesity obsolete melancholia obstructive sleep apnea papillary adenoma paraplegia partial motor epilepsy pathologic nystagmus periodontitis phobic disorder placental insufficiency polycystic ovary syndrome primary hyperaldosteronism progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma pyoureter renovascular hypertension scleroderma secondary hypertension sensorineural hearing loss sensory peripheral neuropathy sick sinus syndrome silent myocardial infarction situs inversus skin melanoma spontaneous ocular nystagmus systemic scleroderma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus vesicoureteral reflux visual epilepsy
O00401	Actin nucleation-promoting factor WASL	WASL	1	1
O00408	cGMP-dependent 3',5'-cyclic phosphodiesterase	PDE2A	0	1
O00409	Forkhead box protein N3	FOXN3 C14orf116 CHES1	0	1
O00410	Importin-5	IPO5 KPNB3 RANBP5	1	2
O00418	Eukaryotic elongation factor 2 kinase	EEF2K	0	1
O00421	C-C chemokine receptor-like 2	CCRL2 CCR11 CCR6 CKRX CRAM HCR	1	0
O00422	Histone deacetylase complex subunit SAP18	SAP18	2	1
O00423	Echinoderm microtubule-associated protein-like 1	EML1 EMAP1 EMAPL EMAPL1	0	1
O00425	Insulin-like growth factor 2 mRNA-binding protein 3	IGF2BP3 IMP3 KOC1 VICKZ3	0	1
O00429	Dynamin-1-like protein	DNM1L DLP1 DRP1	4	1
O00442	RNA 3'-terminal phosphate cyclase	RTCA RPC RPC1 RTC1 RTCD1	0	1
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
O00451	GDNF family receptor alpha-2	GFRA2 GDNFRB RETL2 TRNR2	6	6	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hirschsprung's disease adenocarcinoma adenoma bipolar disorder cancer colorectal cancer colorectal carcinoma follicular adenoma frontotemporal dementia hepatocellular carcinoma large intestine cancer lingual-facial-buccal dyskinesia liver cancer microcystic adenoma neuroblastoma neuropathy pancreatic cancer pancreatic carcinoma papillary adenoma peripheral nervous system disease polyneuropathy preretinal fibrosis schizophrenia secondary Parkinson disease
O00458	Interferon-related developmental regulator 1	IFRD1	0	1

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