GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
Q9NRA2	Sialin	SLC17A5	3	0	Alzheimer's disease Balo concentric sclerosis Crimean-Congo hemorrhagic fever Gilbert syndrome HELLP syndrome IgA glomerulonephritis Japanese encephalitis Lassa fever Parkinson's disease Plasmodium falciparum malaria Reye syndrome Stevens-Johnson syndrome Wilson disease abdominal obesity-metabolic syndrome 1 acrodermatitis acute pancreatitis adrenoleukodystrophy agammaglobulinemia agranulocytosis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma alternating exotropia amelogenesis imperfecta type 1E amnestic disorder amyotrophic lateral sclerosis type 1 anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autoimmune hepatitis autoimmune polyendocrine syndrome bilirubin metabolic disorder cancer cardiovascular system disease cataract 2 multiple types cataract 30 cataract 32 multiple types central nervous system disease cerebral degeneration cerebral infarction cerebrovascular disease cholestasis chromosome 17p13.1 deletion syndrome chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer common cold communicating hydrocephalus congenital nystagmus congenital ptosis congestive heart failure coronary artery disease dementia dengue disease dengue hemorrhagic fever depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism disseminated intravascular coagulation dissociated nystagmus dysthymic disorder embryoma epilepsy essential hypertension essential thrombocythemia exotropia familial hyperlipidemia familial nephrotic syndrome fascioliasis fibromyalgia gallbladder disease gingival hypertrophy gingival overgrowth glomerulonephritis glucose intolerance glycogen storage disease II head and neck squamous cell carcinoma heart disease hemochromatosis hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hydrocephalus hyperglycemia hypertension hypohidrotic ectodermal dysplasia immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome intellectual disability intrahepatic cholestasis of pregnancy intrinsic asthma iron metabolism disease kidney disease kidney failure large intestine cancer late onset Parkinson's disease learning disability leukodystrophy leukopenia lipoid nephrosis lissencephaly liver cancer liver carcinoma liver cirrhosis liver disease lung cancer lung non-small cell carcinoma lymphopenia lysosomal storage disease macrocytic anemia major depressive disorder medium chain acyl-CoA dehydrogenase deficiency melancholic depression melanoma microphthalmia monocular exotropia myelodysplastic syndrome myocarditis myositis narcolepsy nasopharyngitis nephritis nephrosis nephrotic syndrome neurodegenerative disease neurotic disorder neutropenia obesity obsolete Matthew-Wood syndrome obsolete melancholia obstructive hydrocephalus obstructive sleep apnea osteoarthritis osteomalacia pancreatitis pancytopenia parapsoriasis pathologic nystagmus pneumonia portal vein thrombosis pre-eclampsia prediabetes syndrome primary polycythemia primary sclerosing cholangitis psoriasis ptosis purpura fulminans pustulosis of palm and sole pyoureter retrograde amnesia rheumatoid arthritis rickets sclerosing cholangitis senile degeneration of brain severe congenital neutropenia sialuria sickle cell anemia skin melanoma spontaneous ocular nystagmus steatotic liver disease subcortical band heterotopia thrombocytopenia tuberculosis type 2 diabetes mellitus uremia viral infectious disease visceral leishmaniasis visual epilepsy yellow fever
Q15125	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	EBP	3	2	Alzheimer's disease Balo concentric sclerosis Dandy-Walker syndrome Klinefelter syndrome Klippel-Feil syndrome Krabbe disease Laron syndrome Marfan syndrome Patau syndrome Peters anomaly Sjogren-Larsson syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 X-linked cleft palate with or without ankyloglossia achondroplasia actinic keratosis acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adrenoleukodystrophy adult fibrosarcoma allergic asthma alopecia ankyloglossia aortic valve disease 2 aortic valve stenosis arteriosclerotic cardiovascular disease asthma atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autosomal dominant chondrodysplasia punctata autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis bladder carcinoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cartilage-hair hypoplasia cataract central nervous system cancer central nervous system disease cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute myeloid leukemia childhood leukemia chondrodysplasia punctata choriocarcinoma chromophobe renal cell carcinoma chronic monocytic leukemia chronic myeloid leukemia clear cell renal cell carcinoma cleft palate clubfoot collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus congenital heart disease congenital nystagmus congenital ptosis congestive heart failure cornea plana coronary artery disease cryptorchidism cystic fibrosis dementia diabetes mellitus dissociated nystagmus embryoma epilepsy essential hypertension essential thrombocythemia familial retinoblastoma fibrosarcoma gastrointestinal system cancer giant cell glioblastoma glaucoma glioblastoma gliosarcoma granuloma annulare hematologic cancer hemophilia B hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hydrocephalus hydronephrosis hyperostosis hypertension ichthyosis intellectual disability intrinsic asthma isolated cleft palate keratosis follicularis kidney failure large intestine cancer laryngeal disease learning disability leiomyoma leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 melanoma microphthalmia mixed glioma mixed-type liposarcoma mongolian spot mucopolysaccharidosis IV multicentric Castleman disease multiple epiphyseal dysplasia myelodysplastic syndrome myeloid leukemia myofibroma myxoid liposarcoma narcolepsy nervous system disease neuroblastoma nonpapillary renal cell carcinoma nutmeg liver obesity obsolete congenital ichthyosiform erythroderma obstructive hydrocephalus optic atrophy osteochondrodysplasia osteomyelitis papillary adenocarcinoma papillary renal cell carcinoma papilloma pathologic nystagmus placenta cancer polydactyly polyhydramnios pseudoxanthoma elasticum ptosis renal carcinoma renal cell carcinoma retinoblastoma rheumatoid arthritis rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 sarcomatoid renal cell carcinoma schizophrenia scoliosis seborrheic keratosis senile degeneration of brain sensorineural hearing loss situs inversus skin disease skin melanoma spondylolisthesis spontaneous ocular nystagmus squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood thyroid gland papillary carcinoma tongue squamous cell carcinoma tracheal calcification tracheal disease tracheal stenosis trilateral retinoblastoma tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer uterine fibroid visual epilepsy
P40199	Carcinoembryonic antigen-related cell adhesion molecule 6	CEACAM6 NCA	16	8	Alzheimer's disease Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma Clostridium difficile colitis Cowden syndrome Crohn's colitis Crohn's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Lambert-Eaton myasthenic syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Stickler syndrome acute lymphoblastic leukemia adenocarcinoma adenoma allergic asthma amyotrophic lateral sclerosis asthma bacterial infectious disease bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral degeneration childhood acute lymphocytic leukemia childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma cystic fibrosis embryoma follicular adenoma frontotemporal dementia gallbladder cancer gallbladder carcinoma gastric adenocarcinoma gastroenteritis gastrointestinal system cancer gastrointestinal system disease granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intrahepatic cholangiocarcinoma intrinsic asthma irritable bowel syndrome large intestine cancer laryngeal disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lymphoblastic lymphoma microcystic adenoma multiple myeloma myelofibrosis neurocirculatory asthenia nonpapillary renal cell carcinoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma papillary renal cell carcinoma patent ductus arteriosus plasma cell neoplasm proctitis progressive muscular atrophy prostate cancer prostate carcinoma refractory plasma cell neoplasm renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma tracheal disease tubular adenocarcinoma ulcerative colitis
P21912	Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial	SDHB SDH SDH1	1	1	Alzheimer's disease Bannayan-Riley-Ruvalcaba syndrome Carney-Stratakis syndrome Clouston syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Leigh disease MELAS syndrome Marfan syndrome Peutz-Jeghers syndrome Richter's syndrome achondroplasia acoustic neuroma adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenal gland disease adrenocortical carcinoma adult oligodendroglioma agnosia anemia angioedema angiomatous meningioma angiomyoma aniridia autistic disorder benign breast phyllodes tumor benign meningioma bilateral breast cancer bladder carcinoma blindness breast cancer breast carcinoma breast malignant phyllodes tumor cancer cardiomyopathy cataract 4 multiple types cataract central nervous system cancer cerebral convexity meningioma childhood kidney cell carcinoma childhood oligodendroglioma chondroma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital adrenal hyperplasia congenital nystagmus congestive heart failure cranial nerve disease cranial nerve palsy cribriform carcinoma cutaneous fibrous histiocytoma dementia developmental coordination disorder diabetic cataract diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy dissociated nystagmus duodenum cancer embryoma endocrine gland cancer endometrial cancer endometrial carcinoma endomyocardial fibrosis epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exanthem familial adenomatous polyposis familial hypertrophic cardiomyopathy fibrous meningioma fissured tongue fundus albipunctatus gastrointestinal stromal tumor geographic tongue glomangioma glomerulonephritis glomus tumor goiter granular cell carcinoma gynecomastia head and neck cancer heart cancer hemangioblastoma hemangioma hepatocellular carcinoma hidradenoma high grade glioma hypercalcemia hyperparathyroidism hypertension hypertensive retinopathy hypertrophic cardiomyopathy hypertrophy of breast ileus in situ carcinoma infant gynecomastia insulinoma intellectual disability intestinal obstruction intracranial hypertension intraorbital meningioma intraventricular meningioma islet cell tumor kidney cancer kidney disease kwashiorkor large intestine cancer learning disability leiomyoma leukodystrophy lipoma liver cancer macrocytic anemia malignant pheochromocytoma marasmus melanoma meningioma meningothelial meningioma microcephaly microcystic meningioma mitochondrial complex II deficiency mitochondrial metabolism disease mitochondrial myopathy mixed oligodendroglioma-astrocytoma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myofibrillar myopathy 1 myofibroma myopathy nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter nutrition disease obsolete constipation olfactory groove meningioma oligodendroglioma ophthalmoplegia osteitis fibrosa oxyphilic adenoma palmoplantar keratosis pancreatic adenocarcinoma panic disorder papillary adenocarcinoma papillary renal cell carcinoma papilloma paraganglioma parasagittal meningioma pathologic nystagmus peripheral nervous system neoplasm pheochromocytoma phosphorus metabolism disease pituitary adenoma placental insufficiency pleomorphic lipoma primary autosomal recessive microcephaly 1 prolactinoma protein-energy malnutrition proteinuria psammomatous meningioma pseudotumor cerebri renal artery obstruction renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa sarcoma sarcomatoid renal cell carcinoma scoliosis secretory meningioma sensorineural hearing loss situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag small intestine benign neoplasm small intestine cancer spinal meningioma spindle cell sarcoma spontaneous ocular nystagmus squamous cell papilloma stomach cancer stomach carcinoma syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma transitional meningioma tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma urinary bladder cancer urticaria uterine corpus cancer uterine fibroid vesicoureteral reflux von Hippel-Lindau disease
Q00796	Sorbitol dehydrogenase	SORD	2	3	Alzheimer's disease Bannayan-Riley-Ruvalcaba syndrome Clouston syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Leber congenital amaurosis 1 MELAS syndrome Peutz-Jeghers syndrome adenocarcinoma adenoma adrenal gland cancer background diabetic retinopathy bladder carcinoma breast cancer cancer cardiomyopathy 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 childhood kidney cell carcinoma chromophobe renal cell carcinoma chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer dementia diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of metabolism duodenum cancer eclampsia embryoma endomyocardial fibrosis essential hypertension exudative vitreoretinopathy follicular adenoma gastrointestinal stromal tumor glomerulonephritis heart cancer hepatocellular carcinoma hyperglycemia hypertension hypertrophic cardiomyopathy kidney cancer kidney disease kwashiorkor large intestine cancer leiomyoma leukodystrophy liver cancer liver carcinoma marasmus mesenchymal cell neoplasm microcystic adenoma mitochondrial complex II deficiency mitochondrial metabolism disease mitochondrial myopathy multiple endocrine neoplasia type 1 myofibrillar myopathy 1 myofibroma nephritis nephrosis neuroblastoma neurofibromatosis 1 neurofibromatosis nonpapillary renal cell carcinoma nutrition disease obsolete eye and adnexa disease papillary adenoma papillary renal cell carcinoma paraganglioma perinatal necrotizing enterocolitis pheochromocytoma proliferative diabetic retinopathy prostate cancer prostate carcinoma protein-energy malnutrition pyoureter renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma skin benign neoplasm skin cancer small intestine cancer steatotic liver disease thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer uterine fibroid von Hippel-Lindau disease
Q14002	Carcinoembryonic antigen-related cell adhesion molecule 7	CEACAM7 CGM2	7	0	Alzheimer's disease Barrett's esophagus Krukenberg carcinoma Lynch syndrome MHC class II deficiency Marfan syndrome Norrie disease acute lymphoblastic leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosine deaminase deficiency anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma antithrombin III deficiency benign mesothelioma bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bladder calculus bladder carcinoma breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer carcinoma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary thrombosis cribriform carcinoma cutaneous Paget's disease dementia diabetes mellitus distal arthrogryposis duodenum disease embryoma endometrial cancer endometrial carcinoma esophageal atresia/tracheoesophageal fistula esophageal atresia esophageal cancer esophageal carcinoma esophageal disease esophagus adenocarcinoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial retinoblastoma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastric cardia carcinoma gastroenteritis gastrointestinal system cancer gastrointestinal system disease giant cell glioblastoma glioblastoma goiter granular cell carcinoma head and neck cancer hematologic cancer hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intrahepatic cholangiocarcinoma islet cell tumor kidney cancer large intestine cancer liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma malignant mesothelioma melanoma microcystic adenoma microglandular adenosis microinvasive gastric cancer microphthalmia mucinous adenocarcinoma multiple sclerosis myeloproliferative disorder with eosinophilia myocardial infarction neuroendocrine carcinoma neuroendocrine tumor nontoxic goiter obsolete Matthew-Wood syndrome osteomalacia ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic endocrine carcinoma papillary adenoma papillary renal cell carcinoma papillary serous adenocarcinoma paroxysmal nonkinesigenic dyskinesia 1 periodontitis peritoneal mesothelioma peritoneal serous papillary adenocarcinoma primary sclerosing cholangitis proctitis protein C deficiency protein S deficiency pseudomyxoma peritonei pulmonary emphysema rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinoblastoma rhabdomyosarcoma rickets rosacea sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing cholangitis serous cystadenocarcinoma severe combined immunodeficiency silent myocardial infarction situs inversus skin melanoma squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma stomach disease stone in bladder diverticulum substance abuse substance-related disorder thrombophilia thyroid gland disease thyroid gland medullary carcinoma tongue squamous cell carcinoma transitional cell carcinoma trilateral retinoblastoma tuberculous peritonitis tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer urinary system benign neoplasm urinary system cancer uterine corpus cancer
Q14118	Dystroglycan 1	DAG1	59	22	Alzheimer's disease Becker muscular dystrophy Bethlem myopathy Cockayne syndrome Cornelia de Lange syndrome Crohn's colitis Crohn's disease Dandy-Walker syndrome Dubowitz syndrome Duchenne muscular dystrophy Ebola hemorrhagic fever Fukuyama congenital muscular dystrophy Joubert syndrome Lassa fever Lyme disease Marfan syndrome Miller-Dieker lissencephaly 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 Peters anomaly Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Walker-Warburg syndrome X-linked Aarskog syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult medulloblastoma agnosia allergic asthma ameloblastoma ankylosing spondylitis anterior horn cell disease arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 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 Robinow syndrome 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 brain cancer breast cancer breast carcinoma buphthalmos campomelic dysplasia cancer carcinoma cardiomyopathy cataract celiac disease central nervous system cancer childhood leukemia childhood medulloblastoma childhood type dermatomyositis chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer common variable immunodeficiency communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital disorder of glycosylation congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A9 congenital muscular dystrophy congestive heart failure cornea plana coronary artery disease coronary thrombosis cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cribriform carcinoma cryptorchidism dental caries dentin caries depressive disorder dermatomyositis developmental coordination disorder diabetes mellitus 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 distal myopathy embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma essential hypertension facioscapulohumeral muscular dystrophy familial periodic paralysis focal epilepsy fundus dystrophy giant cell glioblastoma glaucoma glioblastoma gliosarcoma granular cell carcinoma heart septal defect high grade glioma hydranencephaly hydrocephalus hydrophthalmos hypertension hypertrophic cardiomyopathy immune system disease inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease intellectual disability intrinsic asthma isolated elevated serum creatine phosphokinase levels juvenile rheumatoid arthritis large intestine cancer learning disability leukemia leukodystrophy limb-girdle muscular dystrophy lissencephaly lymphocytic choriomeningitis major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microphthalmia mixed glioma muscular atrophy muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis myotonic dystrophy type 1 myotonic dystrophy type 2 neurodegenerative disease neuromuscular disease neuropathy nonpapillary renal cell carcinoma obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma parapsoriasis partial motor epilepsy peripheral nervous system disease polyneuropathy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary biliary cholangitis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole recurrent corneal erosion renal carcinoma renal cell carcinoma retinal detachment rhabdomyosarcoma rippling muscle disease 2 sarcomatoid carcinoma sarcomatoid renal cell carcinoma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly silent myocardial infarction situs inversus squamous cell carcinoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type systemic lupus erythematosus tongue cancer tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus cancer visual epilepsy
P00492	Hypoxanthine-guanine phosphoribosyltransferase	HPRT1 HPRT	0	1	Alzheimer's disease Borjeson-Forssman-Lehmann syndrome CD40 ligand deficiency Creutzfeldt-Jakob disease Duchenne muscular dystrophy Ewing sarcoma Fanconi anemia complementation group A Fanconi anemia Guillain-Barre syndrome Laron syndrome Lesch-Nyhan syndrome Marfan syndrome Miller Fisher syndrome Rett syndrome Simpson-Golabi-Behmel syndrome type 1 T-cell acute lymphoblastic leukemia X-linked dilated cardiomyopathy X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 achondroplasia acoustic neuroma acquired polycythemia acute biphenotypic leukemia acute kidney failure acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute promyelocytic leukemia adult acute lymphocytic leukemia adult fibrosarcoma agnosia alternating hemiplegia of childhood anemia angiomatous meningioma arthritis arthropathy aspartylglucosaminuria ataxia telangiectasia atrophy of testis attention deficit hyperactivity disorder autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial sepsis basal ganglia disease benign meningioma blepharospasm bone disease bone marrow cancer bone marrow disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence cartilage disease central nervous system disease central nervous system lymphoma cerebral convexity meningioma cerebral palsy childhood acute lymphocytic leukemia childhood leukemia childhood type dermatomyositis choriocarcinoma chronic fatigue syndrome chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyradiculoneuropathy chronic myeloid leukemia clear cell meningioma colitis collagen disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer connective tissue disease demyelinating disease dermatomyositis developmental coordination disorder diabetic ketoacidosis 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 dysplastic nevus syndrome dystonia embryoma encephalitis encephalomyelitis endometrial stromal sarcoma endometriosis of uterus endometriosis epilepsy epithelioid sarcoma erythropoietin polycythemia esophageal cancer esophageal carcinoma familial erythrocytosis 2 fibrosarcoma fibrous meningioma focal hand dystonia frozen shoulder fucosidosis galactosialidosis gastroenteritis giardiasis glomerulonephritis glycoproteinosis gout hematopoietic system disease hemiplegia hepatoblastoma hepatocellular carcinoma herpes simplex histiocytosis hyperglycemia hyperuricemia ileitis ileocolitis immune system disease inflammatory bowel disease inherited metabolic disorder intellectual disability intrahepatic cholestasis of pregnancy intraorbital meningioma intraventricular meningioma kidney disease kidney failure large intestine cancer learning disability leukemia leukopenia lingual-facial-buccal dyskinesia liver cancer lobular neoplasia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphoma lymphoplasmacyte-rich meningioma macrocytic anemia malaria measles megaloblastic anemia melanoma meningioma meningothelial meningioma microcystic meningioma middle cerebral artery infarction movement disease multiple sclerosis muscular dystrophy myelitis myeloproliferative neoplasm myositis neovascular inflammatory vitreoretinopathy nephritis nephrolithiasis nephrosis nervous system disease neuroblastoma non-syndromic X-linked intellectual disability obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oculocerebrorenal syndrome olfactory groove meningioma osteoarthritis osteoporosis ovarian cancer papillary adenocarcinoma papillary renal cell carcinoma parasagittal meningioma paroxysmal nocturnal hemoglobinuria pituitary adenoma placenta cancer pleomorphic adenoma polycythemia prostate cancer prostate carcinoma psammomatous meningioma purine-pyrimidine metabolic disorder pyoureter relapsing-remitting multiple sclerosis rheumatoid arthritis sarcoma scleroderma secretory meningioma situs inversus skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal cord disease spinal meningioma spindle cell sarcoma stress polycythemia syringomyelia systemic lupus erythematosus systemic scleroderma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma transitional meningioma tropical spastic paraparesis tuberculosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus uric acid nephrolithiasis uterine corpus sarcoma visual epilepsy xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
P54802	Alpha-N-acetylglucosaminidase	NAGLU UFHSD1	7	72	Alzheimer's disease Burkitt lymphoma Charcot-Marie-Tooth disease axonal type 2V Clouston syndrome Dent disease Fanconi syndrome Glanzmann's thrombasthenia Kluver-Bucy syndrome Legg-Calve-Perthes disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma amnestic disorder amyloidosis appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrophic gastritis autistic disorder cancer cardiovascular system disease cholera chronic kidney disease chronic pyelonephritis cone-rod dystrophy congestive heart failure coronary artery disease cribriform carcinoma cystinosis cystitis dementia dentatorubral-pallidoluysian atrophy diabetes mellitus diabetic ketoacidosis diarrhea embryoma epilepsy essential thrombocythemia focal segmental glomerulosclerosis follicular adenoma fundus albipunctatus glomerulonephritis granular cell carcinoma gray platelet syndrome heart disease hydronephrosis hypertrichosis hypertrophic cardiomyopathy 1 intellectual disability kidney disease kidney failure learning disability lipoid nephrosis liver cirrhosis lysosomal storage disease malignant pleural mesothelioma microcystic adenoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis multiple epiphyseal dysplasia multiple myeloma myelodysplastic syndrome nephritis nephrosis neuroblastoma neurodegenerative disease oculocerebrorenal syndrome oculocutaneous albinism type IA osteochondrodysplasia otitis media panic disorder papillary adenoma parapsoriasis platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 progressive familial intrahepatic cholestasis 1 progressive myoclonus epilepsy prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole pyoureter qualitative platelet defect renal osteodystrophy retinitis pigmentosa retrograde amnesia sensorineural hearing loss spondyloepimetaphyseal dysplasia, Sponastrime type stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 trigonitis tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease visual epilepsy
P98161	Polycystin-1	PKD1	60	9	Alzheimer's disease Caroli disease Creutzfeldt-Jakob disease Duchenne muscular dystrophy Guillain-Barre syndrome Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome Moyamoya disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Streptococcus pneumonia Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute interstitial pneumonia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia anaplastic astrocytoma angiomyolipoma arteriosclerotic cardiovascular disease atherosclerosis autoimmune pancreatitis autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease azoospermia bacterial sepsis bone disease bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer cardiomyopathy cartilage disease cavernous hemangioma central nervous system cancer childhood cerebral astrocytoma chorioangioma chronic kidney disease clear cell renal cell carcinoma collagen disease colorectal cancer colorectal carcinoma congenital heart disease congestive heart failure connective tissue disease coronary artery disease coronary thrombosis cutaneous fibrous histiocytoma cystic fibrosis cystic kidney disease dermoid cyst dextrocardia diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endomyocardial fibrosis epilepsy episodic kinesigenic dyskinesia 1 essential hypertension familial hypertrophic cardiomyopathy familial nephrotic syndrome fibrillary astrocytoma focal segmental glomerulosclerosis gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glomus tumor growth hormone secreting pituitary adenoma hemangioma hemoglobin H disease hidradenoma high grade glioma histiocytoid hemangioma hyperinsulinism hypertension hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy idiopathic interstitial pneumonia idiopathic pulmonary fibrosis influenza insulinoma intracranial aneurysm intramuscular hemangioma isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma keratosis follicularis kidney cancer kidney disease kidney failure large intestine cancer lipoid nephrosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphangioma lymphopenia malignant astrocytoma melanoma mesangial proliferative glomerulonephritis mixed glioma mongolian spot muscular dystrophy myocardial infarction nephritis nephrolithiasis nephrosis nephrotic syndrome neurofibromatosis 1 neurofibromatosis neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis non-congenital cyst of kidney nutmeg liver obesity osteosarcoma pancreatic cancer pancreatic carcinoma papilloma parapsoriasis pilocytic astrocytoma pneumonia polycystic kidney disease 1 polycystic kidney disease 2 polycystic kidney disease 3 polycystic kidney disease 4 polycystic liver disease polycystic ovary syndrome prostate cancer prostate carcinoma protoplasmic astrocytoma pseudoxanthoma elasticum psoriasis pustulosis of palm and sole pyoureter red color blindness renal carcinoma renal cell carcinoma renovascular hypertension rheumatoid arthritis silent myocardial infarction situs inversus skin melanoma skin papilloma skin tag squamous cell papilloma stomach cancer stomach carcinoma subependymal giant cell astrocytoma syringoma thalassemia thoracic aortic aneurysm thyroid gland anaplastic carcinoma tuberous sclerosis 1 tuberous sclerosis 2 tuberous sclerosis type 2 diabetes mellitus uremia uric acid nephrolithiasis visual epilepsy
Q16394	Exostosin-1	EXT1	2	1	Alzheimer's disease Cenani-Lenz syndactyly syndrome Cornelia de Lange syndrome 4 Cornelia de Lange syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Legg-Calve-Perthes disease Lennox-Gastaut syndrome Leri-Weill dyschondrosteosis Maffucci syndrome Ollier disease Pick's disease Reye syndrome Ritter's disease Werner syndrome achondroplasia acute lymphoblastic leukemia adenocarcinoma adenoma adult acute lymphocytic leukemia anaplastic astrocytoma antisocial personality disorder arthritis arthropathy autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma cancer cartilage disease central nervous system cancer cerebral degeneration cervix uteri carcinoma in situ cherubism childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia chondroblastoma chondroma chondrosarcoma cleidocranial dysplasia clubfoot conduct disorder connective tissue disease cranial nerve disease cranial nerve palsy cribriform carcinoma cryoglobulinemia diabetes mellitus disease of mental health embryoma endometrial cancer endometrial carcinoma epilepsy exostosis familial hypercholesterolemia familial nephrotic syndrome fibrillary astrocytoma fibromyalgia frontotemporal dementia gallbladder disease gemistocytic astrocytoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatitis A hepatitis B hepatitis C hepatitis E hepatitis hepatocellular carcinoma hereditary multiple exostoses high grade glioma humeroradial synostosis hydrocephalus hyperostosis hypogonadism hypogonadotropic hypogonadism 7 with or without anosmia immune system disease intellectual disability juvenile myoclonic epilepsy juvenile pilocytic astrocytoma learning disability leukemia lipoid nephrosis liver cancer liver disease lupus nephritis malignant astrocytoma membranous glomerulonephritis metachondromatosis microcephaly mixed glioma mucopolysaccharidosis III mucopolysaccharidosis type IIIA multiple myeloma myositis nephrotic syndrome osteoarthritis osteonecrosis osteopoikilosis osteoporosis osteosarcoma periarthritis personality disorder pilocytic astrocytoma progeria protoplasmic astrocytoma psychotic disorder radioulnar synostosis rectal benign neoplasm rectum adenocarcinoma rectum cancer rheumatoid arthritis schizophrenia scoliosis spinal cord disease subependymal giant cell astrocytoma tendinitis thrombophilia trichorhinophalangeal syndrome type II tubular adenocarcinoma type 2 diabetes mellitus urinary tract obstruction uterine corpus cancer vasculitis vesicoureteral reflux visual epilepsy
Q93063	Exostosin-2	EXT2	2	2	Alzheimer's disease Cenani-Lenz syndactyly syndrome Dent disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Leri-Weill dyschondrosteosis Maffucci syndrome Marfan syndrome Ollier disease Pick's disease Reye syndrome achondroplasia adenosarcoma agnosia anemia arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma cancer cartilage disease cerebral degeneration cherubism chondrosarcoma cleidocranial dysplasia clubfoot congenital hypothyroidism congenital nystagmus connective tissue disease cranial nerve disease cranial nerve palsy craniosynostosis cryptorchidism developmental and epileptic encephalopathy 36 developmental coordination disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus epilepsy esophagitis essential hypertension exostosis familial hypercholesterolemia frontotemporal dementia gastroesophageal reflux disease hereditary multiple exostoses humeroradial synostosis hyperostosis hypertension hypertropia hypothyroidism immune system disease intellectual disability large intestine cancer learning disability lupus nephritis macrocytic anemia mechanical strabismus membranous glomerulonephritis metachondromatosis microcephaly mucopolysaccharidosis III mucopolysaccharidosis type IIIA myxedema nephroblastoma nonsyndromic congenital nail disorder 9 obsolete constipation ophthalmoplegia osteoarthritis osteonecrosis osteosarcoma parietal foramina pathologic nystagmus peptic esophagitis periarthritis radioulnar synostosis scoliosis situs inversus spontaneous ocular nystagmus stereotypic movement disorder strabismus tendinitis tuberous sclerosis type 2 diabetes mellitus ventricular septal defect visual epilepsy
P17405	Sphingomyelin phosphodiesterase	SMPD1 ASM	8	4	Alzheimer's disease Chagas disease Evans' syndrome Fabry disease Gaucher's disease Laron syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wilson disease achondroplasia acute myocardial infarction acute promyelocytic leukemia adrenal gland cancer adult fibrosarcoma adult respiratory distress syndrome aggressive systemic mastocytosis alcohol dependence alcohol use disorder alcoholic hepatitis allergic asthma alternating hemiplegia of childhood amnestic disorder antithrombin III deficiency anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autoimmune thrombocytopenic purpura autonomic neuropathy bacterial sepsis bipolar disorder botryoid rhabdomyosarcoma cancer cataract 32 multiple types central nervous system cancer central nervous system disease cerebral infarction cerebrovascular disease cholecystolithiasis choledocholithiasis cholelithiasis chronic fatigue syndrome chronic obstructive pulmonary disease chylomicron retention disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital nystagmus congestive heart failure coronary artery disease coronary thrombosis cystic fibrosis depressive disorder diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy disease of mental health disease of metabolism dissociated nystagmus duodenum cancer dysthymic disorder embryoma embryonal rhabdomyosarcoma encephalitis encephalomyelitis familial adenomatous polyposis 1 familial adenomatous polyposis fibrosarcoma gastroenteritis generalized anxiety disorder gliosarcoma head and neck squamous cell carcinoma heart cancer hemochromatosis hepatitis hepatocellular carcinoma herpes simplex high grade glioma hyperhomocysteinemia hypersplenism ileitis ileocolitis indolent systemic mastocytosis inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease intrinsic asthma iron metabolism disease islet cell tumor kwashiorkor large intestine cancer late onset Parkinson's disease lipid storage disease liver cancer liver carcinoma liver cirrhosis lung cancer lung non-small cell carcinoma lysosomal storage disease major depressive disorder marasmus mast-cell leukemia mastocytosis melancholic depression melanoma metachromatic leukodystrophy microcytic anemia mixed glioma multiple myeloma multiple sclerosis myelitis myocardial infarction nasopharynx carcinoma nervous system disease neuronal ceroid lipofuscinosis 6A neuropathy neurotic disorder newborn respiratory distress syndrome nutmeg liver nutrition disease obesity obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia osteoporosis ovarian cancer ovarian carcinoma pathologic nystagmus periodontal disease peripheral nervous system disease pheochromocytoma pneumonia prostate cancer prostate carcinoma protein C deficiency protein S deficiency protein-energy malnutrition psychotic disorder respiratory syncytial virus infectious disease retrograde amnesia rheumatoid arthritis sea-blue histiocytosis sickle cell anemia silent myocardial infarction skin melanoma small intestine cancer sphingolipidosis splenic disease splenic infarction spontaneous ocular nystagmus steatotic liver disease systemic lupus erythematosus systemic mastocytosis thrombophilia trypanosomiasis tuberculosis type 2 diabetes mellitus ulcerative colitis urinary bladder cancer viral infectious disease xanthomatosis
Q8NFU5	Inositol polyphosphate multikinase	IPMK IMPK	1	1	Alzheimer's disease Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease cancer hepatitis idiopathic scoliosis inflammatory bowel disease 1 inflammatory bowel disease ovarian cancer ovarian carcinoma parapsoriasis psoriasis pustulosis of palm and sole ulcerative colitis
O14561	Acyl carrier protein, mitochondrial	NDUFAB1	0	1	Alzheimer's disease HCL-V Lynch syndrome Marfan syndrome Richter's syndrome Wilson disease X-linked dilated cardiomyopathy actinic keratosis adamantinous craniopharyngioma adult lymphoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ataxic cerebral palsy atherosclerosis brain cancer cancer central nervous system lymphoma central retinal vein occlusion cerebral infarction cerebrovascular disease childhood lymphoma chronic lymphocytic leukemia congenital hemolytic anemia congestive heart failure coronary artery disease craniopharyngioma cystinuria dementia dental caries dentin sensitivity 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 embryoma endometrial cancer endometrial carcinoma favism galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease gonorrhea hairy cell leukemia hemochromatosis hereditary elliptocytosis iron metabolism disease lymphoma neurodegenerative disease nutmeg liver obesity obsolete ymphosarcoma osteoporosis papillary craniopharyngioma root caries situs inversus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberculosis tuberous sclerosis uterine corpus cancer
Q16821	Protein phosphatase 1 regulatory subunit 3A	PPP1R3A PP1G	1	1	Alzheimer's disease adult lymphoma atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative breast cancer cancer carcinoma central nervous system lymphoma childhood lymphoma chronic monocytic leukemia colorectal cancer colorectal carcinoma communication disorder congestive heart failure diabetes mellitus diabetic ketoacidosis embryoma glucose intolerance hematologic cancer language disorder large intestine cancer laryngeal squamous cell carcinoma lymphoid leukemia lymphoma myeloid leukemia obsolete ymphosarcoma prediabetes syndrome prostate cancer prostate carcinoma sarcomatoid carcinoma type 2 diabetes mellitus
Q9NR71	Neutral ceramidase	ASAH2 HNAC1	23	0	Alzheimer's disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome celiac disease colorectal cancer congenital diaphragmatic hernia cystic fibrosis dementia diabetes mellitus diabetic ketoacidosis gallbladder disease gamma heavy chain disease glaucoma heavy chain disease inflammatory bowel disease large intestine cancer liver disease lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 neuroblastoma obesity systemic Epstein-Barr virus positive T-cell lymphoma of childhood type 2 diabetes mellitus
P09382	Galectin-1	LGALS1	2	2	American histoplasmosis B-cell lymphoma Beckwith-Wiedemann syndrome Burkitt lymphoma CLOVES syndrome Camurati-Engelmann disease Duchenne muscular dystrophy Ebola hemorrhagic fever Glanzmann's thrombasthenia Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kaposi's sarcoma Langerhans-cell histiocytosis MHC class II deficiency Norum disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Perlman syndrome Richter's syndrome Sotos syndrome St. Louis encephalitis T-cell acute lymphoblastic leukemia Tangier disease Weissenbacher-Zweymuller syndrome X-linked ichthyosis abetalipoproteinemia acoustic neuroma acquired immunodeficiency syndrome acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adamantinous craniopharyngioma adenoma adenosine deaminase deficiency adult T-cell leukemia/lymphoma adult lymphoma adult oligodendroglioma age related macular degeneration agnosia allergic asthma amyotrophic lateral sclerosis androgen insensitivity syndrome angiomatous meningioma anthrax disease aphthous stomatitis arthritis arthropathy aspergillosis asthma atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial sepsis basal cell carcinoma benign meningioma bile duct adenocarcinoma bile duct carcinoma black piedra bladder carcinoma bladder urothelial carcinoma bone marrow cancer bone osteosarcoma brain ischemia breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cataract 4 multiple types celiac disease central nervous system cancer central nervous system lymphoma cerebral convexity meningioma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood leukemia childhood lymphoma childhood oligodendroglioma childhood osteosarcoma cholangiocarcinoma choreaacanthocytosis choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic lymphocytic leukemia classic galactosemia clear cell meningioma clear cell renal cell carcinoma coccidioidomycosis colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congestive heart failure conjunctivitis corneal disease coronary thrombosis craniopharyngioma cystinuria degeneration of macula and posterior pole depressive disorder dermatitis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic macular edema diabetic retinopathy differentiated thyroid gland carcinoma diffuse large B-cell lymphoma distal arthrogryposis dysplastic nevus syndrome dysthymic disorder embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma essential hypertension extrahepatic cholestasis exudative vitreoretinopathy 1 exudative vitreoretinopathy familial nephrotic syndrome fibrous meningioma follicular adenoma galactokinase deficiency galactosemia gastric ulcer gastritis gastroenteritis gastrointestinal system cancer gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease goiter gray platelet syndrome head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis A hepatitis C hepatitis hepatocellular carcinoma herpes simplex high grade glioma histoplasmosis human immunodeficiency virus infectious disease hyperglycemia hypertension hypoglycemia hypolipoproteinemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma keratoconus kidney disease large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer leukemia lipoid nephrosis liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macular degeneration major depressive disorder malignant astrocytoma malignant peripheral nerve sheath tumor melancholic depression melanoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microphthalmia mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma multiple sclerosis muscular dystrophy myasthenia gravis mycosis fungoides myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction nasopharynx carcinoma neovascular glaucoma neovascular inflammatory vitreoretinopathy nephritis nephronophthisis 9 nephronophthisis nephrotic syndrome neurilemmoma neuroblastoma neurofibrosarcoma neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neurotic disorder non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma olfactory groove meningioma oligodendroglioma oral mucosa leukoplakia osteoarthritis osteosarcoma otitis media ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary carcinoma papillary craniopharyngioma papillary renal cell carcinoma parapsoriasis parasagittal meningioma patent ductus arteriosus periapical granuloma peripheral T-cell lymphoma pituitary adenoma placenta cancer plasmacytoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 polycythemia vera polycythemia postinflammatory pulmonary fibrosis pre-eclampsia premature menopause preretinal fibrosis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary ovarian insufficiency primary pulmonary hypertension prion disease progressive muscular atrophy proliferative diabetic retinopathy prostate cancer prostate carcinoma psammomatous meningioma psoriasis pulmonary fibrosis pustulosis of palm and sole qualitative platelet defect renal carcinoma renal cell carcinoma reticulosarcoma retinal disease retinal vasculitis retinitis retinopathy of prematurity rheumatoid arthritis sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sebaceous carcinoma secondary Parkinson disease secretory meningioma sensorineural hearing loss severe combined immunodeficiency silent myocardial infarction skin melanoma speech-language disorder-1 spinal meningioma spindle cell sarcoma sporotrichosis squamous cell carcinoma stomach cancer stomach carcinoma substance abuse substance-related disorder superficial mycosis sweat gland cancer systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus thymus cancer thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma transitional meningioma trophoblastic neoplasm type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer uveoparotid fever viral infectious disease visceral leishmaniasis white piedra white sponge nevus
P38606	V-type proton ATPase catalytic subunit A	ATP6V1A ATP6A1 ATP6V1A1 VPP2	5	1	American histoplasmosis Dandy-Walker syndrome Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Unverricht-Lundborg syndrome achondroplasia agnosia angioma serpiginosum anodontia aspergillosis 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 attention deficit hyperactivity disorder autistic disorder autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID black piedra blepharophimosis blepharospasm brain disease capillary hemangioma cardiomyopathy cataract cavernous hemangioma cerebral degeneration clubfoot coccidioidomycosis coloboma colorectal cancer colorectal carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congenital ptosis congestive heart failure cortical dysplasia-focal epilepsy syndrome cryptorchidism cutis laxa dementia dental caries dentin caries developmental coordination disorder dissociated nystagmus dystonia early myoclonic encephalopathy endomyocardial fibrosis entropion epilepsy esophagitis familial hypertrophic cardiomyopathy focal hand dystonia gastroesophageal reflux disease histoplasmosis hydranencephaly hyperopia hypertrophic cardiomyopathy hypertropia inguinal hernia intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia lipoatrophic diabetes mellitus lipodystrophy lissencephaly mechanical strabismus microcephaly obsolete infantile epileptic encephalopathy ophthalmoplegia optic atrophy patent foramen ovale pathologic nystagmus peptic esophagitis placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 ptosis retinal degeneration schizophrenia septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly spontaneous ocular nystagmus sporotrichosis status epilepticus stomach cancer stomach carcinoma strabismus superficial mycosis syndromic X-linked intellectual disability Najm type tooth agenesis visual epilepsy white piedra
P60891	Ribose-phosphate pyrophosphokinase 1	PRPS1	2	1	Arts syndrome Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease Foster-Kennedy syndrome Laron syndrome Werner syndrome X-linked nonsyndromic deafness achondroplasia acute lymphoblastic leukemia adult acute lymphocytic leukemia agenesis of the corpus callosum with peripheral neuropathy agnosia alternating exotropia anaplastic astrocytoma blindness breast cancer breast carcinoma cancer carcinoma central sleep apnea childhood acute lymphocytic leukemia childhood cerebral astrocytoma coloboma colorectal cancer colorectal carcinoma communication disorder congenital nystagmus critical illness polyneuropathy developmental coordination disorder diabetes insipidus disease of metabolism dissociated nystagmus embryoma epilepsy exotropia fibrillary astrocytoma fundus dystrophy gemistocytic astrocytoma giant cell glioblastoma glioblastoma gout hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 high grade glioma hyperuricemia inflammatory and toxic neuropathy intellectual disability juvenile pilocytic astrocytoma kidney failure kwashiorkor language disorder large intestine cancer learning disability liver cancer locked-in syndrome malignant astrocytoma marasmus meningoencephalitis monocular exotropia motor peripheral neuropathy neuroblastoma neurodegeneration with brain iron accumulation neurohypophyseal diabetes insipidus neuropathy nutrition disease nutritional optic neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum optic atrophy optic nerve disease pancreas disease paraplegia pathologic nystagmus peripheral nervous system disease phosphoribosylpyrophosphate synthetase superactivity pilocytic astrocytoma placental insufficiency polyneuropathy primary immunodeficiency disease progeria protein-energy malnutrition protoplasmic astrocytoma quadriplegia sarcomatoid carcinoma scoliosis sensorineural hearing loss sensory peripheral neuropathy spontaneous ocular nystagmus subependymal giant cell astrocytoma uric acid nephrolithiasis visual epilepsy visual pathway disease
P51689	Arylsulfatase D	ARSD	4	10	Asperger syndrome Bannayan-Riley-Ruvalcaba syndrome Beckwith-Wiedemann syndrome CLOVES syndrome Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome Cowden syndrome Down syndrome Dubowitz syndrome Lown-Ganong-Levine syndrome Marfan syndrome Mowat-Wilson 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 Perlman syndrome Prader-Willi syndrome Rett syndrome Richter's syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Sotos syndrome Williams-Beuren syndrome Wolff-Parkinson-White syndrome X-linked Aarskog syndrome acute kidney tubular necrosis acute myeloid leukemia acute promyelocytic leukemia adult respiratory distress syndrome alexia amnestic disorder aniridia anxiety disorder aortic valve disease 1 aortic valve disease 2 aortic valve stenosis argininosuccinic aciduria arteriosclerotic cardiovascular disease atherosclerosis 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 atrioventricular block atrioventricular septal defect attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bicuspid aortic valve disease breast cancer breast carcinoma buphthalmos cardiomyopathy cardiovascular system disease cerebral palsy chondrodysplasia-pseudohermaphroditism syndrome chronic lymphocytic leukemia citrullinemia communication disorder conduct disorder congenital heart disease congestive heart failure coronary artery disease depressive disorder developmental coordination disorder disease of mental health dyslexia dysthymic disorder eating disorder endocarditis endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy essential hypertension excessive tearing familial hypertrophic cardiomyopathy fragile X syndrome generalized anxiety disorder glaucoma heart disease hemiplegia hydrophthalmos hyperargininemia hypertension hypertrophic cardiomyopathy hypospadias immune system disease infective endocarditis intellectual disability juvenile glaucoma lacrimal apparatus disease language disorder learning disability major depressive disorder melancholic depression microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microphthalmia neurotic disorder newborn respiratory distress syndrome nicotine dependence obesity obsolete melancholia patent ductus arteriosus patent foramen ovale phobic disorder polycystic ovary syndrome post-traumatic stress disorder primary open angle glaucoma psychotic disorder pulmonary valve stenosis retrograde amnesia schizophrenia sclerocornea situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy subacute bacterial endocarditis substance abuse substance-related disorder supravalvular aortic stenosis syndromic X-linked intellectual disability 94 tuberous sclerosis ventricular septal defect visual epilepsy
Q16678	Cytochrome P450 1B1	CYP1B1	0	1	Axenfeld-Rieger syndrome B-cell lymphoma Bloch-Sulzberger syndrome Foster-Kennedy syndrome Langerhans-cell histiocytosis Lynch syndrome Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peters anomaly Peutz-Jeghers syndrome Sveinsson chorioretinal atrophy acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult medulloblastoma adult respiratory distress syndrome agranulocytosis allergic asthma amnestic disorder anaplastic astrocytoma anemia angiomatous meningioma angle-closure glaucoma aniridia ankylosing spondylitis anterior segment dysgenesis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis 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 autism spectrum disorder autistic disorder basal cell carcinoma benign meningioma bladder carcinoma blindness brain cancer branch retinal artery occlusion breast adenocarcinoma breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma buphthalmos cancer capillary hemangioma carcinoma cardiovascular system disease cavernous hemangioma central nervous system cancer central nervous system lymphoma central retinal artery occlusion cerebral convexity meningioma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood kidney cell carcinoma childhood leukemia childhood medulloblastoma choriocarcinoma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma coloboma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital nystagmus congestive heart failure contact dermatitis cornea plana corneal neovascularization coronary artery disease coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus disease of metabolism dissociated nystagmus dysplastic nevus syndrome ectropion embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia eye disease familial adenomatous polyposis familial hyperlipidemia familial multiple nevi flammei female breast carcinoma fibrillary astrocytoma fibrous meningioma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastrointestinal stromal tumor gemistocytic astrocytoma gestational diabetes giant cell glioblastoma glaucoma glioblastoma gliosarcoma glucose intolerance granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis hepatocellular carcinoma high grade glioma hydrophthalmos hyperglycemia hypertension hypertropia hypomelanosis of Ito hypospadias inflammatory breast carcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma juvenile glaucoma juvenile pilocytic astrocytoma kidney cancer large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leiomyoma leukemia leukopenia liver cancer liver disease low tension glaucoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphoma lymphoplasmacyte-rich meningioma macrocytic anemia male breast cancer male infertility malignant astrocytoma mechanical strabismus medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microglandular adenosis microphthalmia mixed glioma multiple myeloma multiple sclerosis myelodysplastic syndrome myocardial infarction myofibroma neutropenia newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete anterior segment mesenchymal dysgenesis obsolete ymphosarcoma occupational dermatitis ocular hypertension oculodentodigital dysplasia olfactory groove meningioma open-angle glaucoma ophthalmoplegia optic atrophy 1 optic atrophy optic nerve disease oral mucosa leukoplakia osteoarthritis osteoporosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis papillary adenoma papillary renal cell carcinoma parasagittal meningioma patent ductus arteriosus patent foramen ovale pathologic nystagmus periodontitis phimosis pilocytic astrocytoma pituitary adenoma placenta cancer polycystic ovary syndrome prediabetes syndrome primary angle-closure glaucoma primary cutaneous amyloidosis primary open angle glaucoma primary pulmonary hypertension prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma psammomatous meningioma recurrent corneal erosion renal carcinoma renal cell carcinoma reticulosarcoma retinal artery occlusion retinal detachment retinal disease retinal vein occlusion retinitis retrograde amnesia sarcomatoid carcinoma sarcomatoid renal cell carcinoma sebaceous carcinoma secretory meningioma severe congenital neutropenia silent myocardial infarction situs inversus skin melanoma spinal meningioma spontaneous ocular nystagmus squamous cell carcinoma squamous cell neoplasm steatotic liver disease strabismus subependymal giant cell astrocytoma sweat gland cancer tongue squamous cell carcinoma transitional cell carcinoma transitional meningioma tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer uterine fibroid visual pathway disease von Hippel-Lindau disease white sponge nevus xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
Q9H9S5	Ribitol 5-phosphate transferase FKRP	FKRP	2	2	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Bethlem myopathy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Richter's syndrome Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia amnestic disorder 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 bilateral optic nerve hypoplasia blindness buphthalmos campomelic dysplasia cardiomyopathy cataract catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia central nervous system origin vertigo centronuclear myopathy chronic lymphocytic leukemia cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital heart disease congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A5 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy congestive heart failure cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder diabetic ketoacidosis 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 distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete type 1 diabetes mellitus 9 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pseudosarcomatous fibromatosis recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa retrograde amnesia rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type 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 visual epilepsy
O95461	Xylosyl- and glucuronyltransferase LARGE1	LARGE1 KIAA0609 LARGE	4	1	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome achondroplasia acoustic neuroma agnosia amphetamine abuse angiomatous meningioma 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 benign meningioma bilateral optic nerve hypoplasia blindness buphthalmos cancer cataract centronuclear myopathy cerebral convexity meningioma chronic monocytic leukemia clear cell meningioma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibrous meningioma fundus albipunctatus fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertropia idiopathic scoliosis imperforate anus intellectual disability intraorbital meningioma intraventricular meningioma isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly liver cancer lymphoid leukemia lymphoplasmacyte-rich meningioma major depressive disorder mechanical strabismus megaconial type congenital muscular dystrophy megalocornea melancholic depression meningioma meningocele meningothelial meningioma microcephaly microcystic meningioma microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myeloid leukemia myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline myopathy obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy olfactory groove meningioma ophthalmoplegia optic atrophy parasagittal meningioma pathologic nystagmus peripheral retinal degeneration pituitary adenoma pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 psammomatous meningioma recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rhabdomyosarcoma rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis secretory meningioma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spinal meningioma spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type transitional meningioma type 2 diabetes mellitus visual epilepsy
Q9UKY4	Protein O-mannosyl-transferase 2	POMT2	6	10	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia 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 bilateral optic nerve hypoplasia blindness buphthalmos campomelic dysplasia cancer cataract cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism cystic kidney disease developmental coordination disorder 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 distal myopathy embryoma epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy

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