GlyCosmos Portal

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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **776 - 800** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▼
5298	phosphatidylinositol 4-kinase beta	PI4KB Aliases: PI4K-BETA pi4K92	Homo sapiens (human)	EAST syndrome autosomal dominant nonsyndromic deafness hepatitis C severe acute respiratory syndrome
54344	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	DPM3 Aliases: DPM synthase complex subunit MGC125904 MGC125905 MGC34275	Homo sapiens (human)	Duchenne muscular dystrophy 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 cardiomyopathy clubfoot congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy-dystroglycanopathy type B15 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy rippling muscle disease 2
124872	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	B4GALNT2 Aliases: Cad Sda	Homo sapiens (human)	Duchenne muscular dystrophy 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 campomelic dysplasia cancer carcinoma cerebrotendinous xanthomatosis congenital muscular dystrophy coronary artery disease distal myopathy embryoma facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy rippling muscle disease 2 sarcomatoid carcinoma
8813	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	DPM1 Aliases: CDGIE DPM synthase complex, catalytic subunit MPDS	Homo sapiens (human)	Duchenne muscular dystrophy antithrombin III deficiency 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 capillary disease cavernous hemangioma chorioangioma congenital disorder of glycosylation Ie congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy facioscapulohumeral muscular dystrophy glomus tumor hemangioma hereditary hemorrhagic telangiectasia histiocytoid hemangioma intramuscular hemangioma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lymphangioma microcephaly muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 nonsyndromic congenital nail disorder 9 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy patent ductus arteriosus protein C deficiency protein S deficiency rippling muscle disease 2 telangiectasis thrombophilia
8818	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	DPM2 Aliases: DPM synthase complex subunit MGC111193 MGC21559	Homo sapiens (human)	Duchenne muscular dystrophy adult respiratory distress syndrome angle-closure glaucoma antithrombin III deficiency 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 chronic closed-angle glaucoma congenital disorder of glycosylation Iu congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy epilepsy exfoliation syndrome facioscapulohumeral muscular dystrophy glaucoma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 newborn respiratory distress syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy polyhydramnios primary angle-closure glaucoma protein C deficiency protein S deficiency rippling muscle disease 2 scoliosis thrombophilia
120071	LARGE xylosyl- and glucuronyltransferase 2	LARGE2 Aliases: FLJ35207 PP5656	Homo sapiens (human)	Duchenne muscular dystrophy acute myocardial infarction 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 cancer congenital muscular dystrophy coronary thrombosis distal myopathy embryoma facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy prostate cancer prostate carcinoma rippling muscle disease 2 silent myocardial infarction transitional cell carcinoma
1119	choline kinase alpha	CHKA Aliases: CKI	Homo sapiens (human)	Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia 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 basal cell carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer colon adenoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma epilepsy esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy gliosarcoma hematologic cancer hepatitis B hepatocellular carcinoma high grade glioma large intestine cancer limb-girdle muscular dystrophy liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma megaconial type congenital muscular dystrophy microcephaly microphthalmia mixed glioma muscular dystrophy myelomeningocele myofibrillar myopathy 1 myofibrillar myopathy 3 neuroblastoma obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma prostate cancer prostate carcinoma rippling muscle disease 2 spina bifida squamous cell carcinoma steatotic liver disease tethered spinal cord syndrome tongue squamous cell carcinoma transient cerebral ischemia vertebrobasilar insufficiency
178	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	AGL Aliases: GDE glycogen debranching enzyme glycogen storage disease type III	Homo sapiens (human)	Duchenne muscular dystrophy Laron syndrome achondroplasia acute promyelocytic leukemia atrichia with papular lesions 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 bladder carcinoma cancer cardiomyopathy colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital muscular dystrophy cystinuria disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hyperlipidemia familial partial lipodystrophy familial periodic paralysis galactosemia giardiasis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatitis C hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy liver cirrhosis lung cancer lung non-small cell carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy nodular nonsuppurative panniculitis obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy panniculitis primary immunodeficiency disease rippling muscle disease 2 uremia urinary bladder cancer
7903	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	ST8SIA4 Aliases: PST PST1 ST8Sia IV	Homo sapiens (human)	Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Norum disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Tangier disease abetalipoproteinemia acne acute pancreatitis adrenoleukodystrophy alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alternating hemiplegia of childhood anal carcinoma in situ anaplastic astrocytoma ankylosing spondylitis arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy breast cancer breast carcinoma bronchus cancer bronchus carcinoma bulimia nervosa cancer carcinoma carotid artery thrombosis carotid stenosis central nervous system disease cerebral infarction cerebrovascular disease cervix uteri carcinoma in situ childhood cerebral astrocytoma childhood leukemia cholecystolithiasis choledocholithiasis cholelithiasis choreaacanthocytosis chromophobe renal cell carcinoma chronic kidney disease chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma complement deficiency coronary artery disease depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea dysthymic disorder embryoma esophageal cancer esophageal carcinoma essential hypertension fibrillary astrocytoma fragile X syndrome gallbladder cancer gallbladder carcinoma gallbladder disease gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis gyrate atrophy hepatocellular carcinoma hereditary spherocytosis high grade glioma hypertension hypolipoproteinemia hypoparathyroidism juvenile pilocytic astrocytoma kidney disease large intestine cancer laryngeal squamous cell carcinoma leukemia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma major depressive disorder malignant astrocytoma melancholic depression muscular dystrophy myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephritis nervous system disease neuroblastoma neurotic disorder nonpapillary renal cell carcinoma nutmeg liver obsolete melancholia pancreatitis papillary renal cell carcinoma papilloma periodontitis pilocytic astrocytoma pneumonia prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohypoparathyroidism renal carcinoma renal cell carcinoma rhabdomyosarcoma rhinitis sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sinusitis squamous cell carcinoma squamous cell papilloma steatotic liver disease subependymal giant cell astrocytoma substance abuse substance-related disorder systemic lupus erythematosus thyroid gland follicular carcinoma tongue squamous cell carcinoma type 2 diabetes mellitus uveoparotid fever
148738	hemojuvelin BMP co-receptor	HJV Aliases: HFE2A JH RGMC haemojuvelin hemojuvelin repulsive guidance molecule c	Homo sapiens (human)	Duchenne muscular dystrophy Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kallmann syndrome Meckel syndrome 8 Sheehan syndrome Wilson disease X-linked dilated cardiomyopathy amenorrhea anaplastic astrocytoma androgen insensitivity syndrome arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autosomal recessive polycystic kidney disease azoospermia bacterial infectious disease beta thalassemia breast cancer breast carcinoma cardiomyopathy cerebral infarction cerebrovascular disease childhood cerebral astrocytoma cholestasis chronic kidney disease congenital hypothyroidism congenital nongoitrous hypothyroidism 4 congestive heart failure coronary artery disease diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy endomyocardial fibrosis essential hypertension essential thrombocythemia fibrillary astrocytoma gemistocytic astrocytoma hemochromatosis type 1 hemochromatosis type 2 hemochromatosis type 2A hemochromatosis hepatitis C hepatocellular carcinoma high grade glioma hypertension hypertrophic cardiomyopathy hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypothyroidism impotence infertility iron metabolism disease isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency juvenile pilocytic astrocytoma kwashiorkor liver cancer lung squamous cell carcinoma malignant astrocytoma marasmus microcytic anemia middle cerebral artery infarction muscular dystrophy myelodysplastic syndrome myxedema neurogenic arthropathy nutrition disease obesity osteoporosis panhypopituitarism pilocytic astrocytoma polycystic kidney disease 4 porphyria cutanea tarda premature ejaculation protein-energy malnutrition protoplasmic astrocytoma psychologic dyspareunia sick sinus syndrome steatotic liver disease subependymal giant cell astrocytoma thalassemia
5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	PIK3C2A Aliases: PI3K-C2alpha Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	Homo sapiens (human)	Duchenne muscular dystrophy Gamstorp-Wohlfart syndrome Kaposi's sarcoma Laron syndrome Norum disease Tangier disease Unverricht-Lundborg syndrome abetalipoproteinemia achondroplasia acquired immunodeficiency syndrome acute myocardial infarction anodontia arteriosclerotic cardiovascular disease atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy blepharospasm breast cancer breast carcinoma cancer cataract choreaacanthocytosis chronic monocytic leukemia congenital hypothyroidism congenital muscular dystrophy coronary artery disease coronary thrombosis cryptorchidism diabetes mellitus disease of mental health distal myopathy early myoclonic encephalopathy embryoma episodic ataxia type 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia focal hand dystonia gastrointestinal stromal tumor glaucoma hypercalcemia hyperphosphatemia hypolipoproteinemia hypothyroidism leukopenia limb-girdle muscular dystrophy lymphoid leukemia muscular dystrophy myeloid leukemia myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myositis myotonic dystrophy type 2 myxedema nephrocalcinosis neuroleptic malignant syndrome nutmeg liver obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy phosphorus metabolism disease placental insufficiency protein-losing enteropathy psychotic disorder rippling muscle disease 2 schizoaffective disorder schizophrenia schizophreniform disorder scoliosis sensorineural hearing loss silent myocardial infarction systemic lupus erythematosus thrombocytopenia tibial muscular dystrophy tooth agenesis type 2 diabetes mellitus
8972	maltase-glucoamylase	MGAM Aliases: MGA alpha-glucosidase	Homo sapiens (human)	Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 brachydactyly type C brachydactyly breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease chylomicron retention disease congenital disorder of glycosylation congenital muscular dystrophy coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 neuromuscular disease nutmeg liver 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 constipation obsolete melancholia oculopharyngeal muscular dystrophy progressive muscular atrophy prolactinoma punctate palmoplantar keratoderma type III rippling muscle disease 2 squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease yellow fever
143	poly(ADP-ribose) polymerase family member 4	PARP4 Aliases: ARTD4 VAULT3 VPARP VWA5C p193 vault poly(ADP-ribose) polymerase von Willebrand factor A domain containing 5C	Homo sapiens (human)	Down syndrome breast cancer breast carcinoma cancer central nervous system lymphoma childhood leukemia colon cancer colonic benign neoplasm colorectal cancer embryoma esophagus squamous cell carcinoma goiter intracranial hypertension large intestine cancer leukemia lymphoma obsolete ymphosarcoma pancreatic cancer pancreatic carcinoma pseudotumor cerebri thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease
26279	phospholipase A2 group IID	PLA2G2D Aliases: sPLA2S	Homo sapiens (human)	Down syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascending cholangitis atherosclerosis breast cancer cancer cholangitis chronic obstructive pulmonary disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease embryoma large intestine cancer primary sclerosing cholangitis sclerosing cholangitis suppurative cholangitis
23275	protein O-fucosyltransferase 2	POFUT2 Aliases: FUT13 GDP-fucose protein O-fucosyltransferase 2 KIAA0958 peptide-O-fucosyltransferase	Homo sapiens (human)	Down syndrome Peters plus syndrome congenital disorder of glycosylation malaria popliteal pterygium syndrome schizophrenia
5211	phosphofructokinase, liver type	PFKL	Homo sapiens (human)	Down syndrome Lafora disease Unverricht-Lundborg syndrome arteriosclerotic cardiovascular disease atherosclerosis bipolar disorder coronary artery disease cystinuria dentatorubral-pallidoluysian atrophy disease of metabolism early myoclonic encephalopathy galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatocellular carcinoma liver cancer mood disorder obsolete major affective disorder 1 obsolete major affective disorder 2 progressive myoclonus epilepsy 1A progressive myoclonus epilepsy tetralogy of Fallot ventricular septal defect
51227	phosphatidylinositol glycan anchor biosynthesis class P	PIGP Aliases: DCRC DSRC phosphatidylinositol-n-acetylglucosaminyltranferase subunit P	Homo sapiens (human)	Down syndrome Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Unverricht-Lundborg syndrome West syndrome aromatase excess syndrome basal ganglia disease blepharospasm cleft palate complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cortical dysplasia-focal epilepsy syndrome developmental and epileptic encephalopathy 1 developmental and epileptic encephalopathy 55 dystonia early infantile epileptic encephalopathy early myoclonic encephalopathy epilepsy episodic ataxia focal hand dystonia hydranencephaly hypertropia intellectual disability isolated cleft palate learning disability lingual-facial-buccal dyskinesia lissencephaly mechanical strabismus microcephaly obsolete infantile epileptic encephalopathy omphalocele ophthalmoplegia pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 prostate cancer prostate carcinoma renal agenesis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus strabismus syndromic X-linked intellectual disability Najm type tuberous sclerosis umbilical hernia ureterocele ventricular septal defect visual cortex disease visual epilepsy
55556	enolase superfamily member 1	ENOSF1 Aliases: FUCD HSRTSBETA L-fuconate dehydratase TYMSAS rTS	Homo sapiens (human)	Down syndrome Hailey-Hailey disease Holt-Oram syndrome Klippel-Trenaunay syndrome Marfan syndrome Plasmodium falciparum malaria Rothmund-Thomson syndrome Rubinstein-Taybi syndrome VACTERL association Werner syndrome adult lymphoma arachnoiditis autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB cancer central nervous system cancer central nervous system lymphoma cerebral malaria childhood leukemia childhood lymphoma colorectal cancer colorectal carcinoma congenital central hypoventilation syndrome cutaneous mastocytosis cutis laxa diffuse cutaneous mastocytosis embryoma endometrial cancer endometrial carcinoma exanthem gliosarcoma hepatitis B herpes zoster high grade glioma intellectual disability large intestine cancer learning disability leukemia lymphoma mal de Meleda malaria mastocytosis meningitis microphthalmia with limb anomalies mixed glioma mixed sleep apnea nail-patella syndrome obsolete ymphosarcoma obstructive sleep apnea ovarian cancer ovarian carcinoma poikiloderma with neutropenia progeria rabies restrictive dermopathy situs inversus sleep apnea split hand-foot malformation 1 with sensorineural hearing loss stomach cancer stomach carcinoma thrombocytopenia-absent radius syndrome tuberous sclerosis urticaria pigmentosa uterine corpus cancer
8871	synaptojanin 2	SYNJ2 Aliases: INPP5H inositol polyphosphate-5-phosphatase H phosphoinositide 5-phosphatase synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2	Homo sapiens (human)	Down syndrome Duchenne muscular dystrophy Joubert syndrome 1 Joubert syndrome Parkinson's disease amyotrophic lateral sclerosis 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 breast cancer bronchus cancer bronchus carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital muscular dystrophy depressive disorder distal myopathy early-onset Parkinson's disease facioscapulohumeral muscular dystrophy giant cell glioblastoma glioblastoma large intestine cancer limb-girdle muscular dystrophy lung cancer lung carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy progressive muscular atrophy rippling muscle disease 2
23509	protein O-fucosyltransferase 1	POFUT1 Aliases: FUT12 GDP-fucose protein O-fucosyltransferase 1 KIAA0180 O-FUT O-Fuc-T peptide-O-fucosyltransferase	Homo sapiens (human)	Dowling-Degos disease acrodermatitis actinic keratosis acute myocardial infarction bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma congestive heart failure coronary artery anomaly coronary thrombosis dermatitis gallbladder disease hepatocellular carcinoma invasive ductal carcinoma large intestine cancer liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma microcephaly myeloproliferative neoplasm myocardial infarction reticulate acropigmentation of Kitamura schizophrenia seborrheic keratosis silent myocardial infarction skin disease
56983	protein O-glucosyltransferase 1	POGLUT1 Aliases: 9630046K23Rik KDELC family like 1 KDELCL1 MDS010 MDSRP MGC32995 Rumi hCLP46	Homo sapiens (human)	Dowling-Degos disease Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia acute myeloid leukemia 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 type 2Z autosomal recessive limb-girdle muscular dystrophy cancer childhood T-cell acute lymphoblastic leukemia childhood leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma essential thrombocythemia facioscapulohumeral muscular dystrophy hematopoietic system disease isolated elevated serum creatine phosphokinase levels keratosis follicularis large intestine cancer leukemia limb-girdle muscular dystrophy lung cancer lung non-small cell carcinoma mongolian spot muscular dystrophy myelodysplastic syndrome myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy primary biliary cholangitis pseudoxanthoma elasticum reticulate acropigmentation of Kitamura rippling muscle disease 2
7372	uridine monophosphate synthetase	UMPS Aliases: orotate phosphoribosyl transferase and orotidine-5'-decarboxylase	Homo sapiens (human)	Diamond-Blackfan anemia Gilbert syndrome agranulocytosis anemia basal cell carcinoma beta thalassemia bile duct adenocarcinoma bile duct carcinoma bilirubin metabolic disorder bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carbamoyl phosphate synthetase I deficiency disease carcinoma carpal tunnel syndrome cholangiocarcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypoplastic anemia coronary artery disease diarrhea disease of metabolism embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma gastrointestinal system cancer gonorrhea hepatocellular carcinoma hereditary spherocytosis intellectual disability intrahepatic cholangiocarcinoma large intestine cancer learning disability leukopenia liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia malaria megaloblastic anemia neutropenia orotic aciduria pancreatic cancer pancreatic carcinoma patent ductus arteriosus prostate cancer prostate carcinoma prostatic adenoma purine-pyrimidine metabolic disorder rectal benign neoplasm rectum adenocarcinoma rectum cancer sarcomatoid carcinoma sebaceous carcinoma severe congenital neutropenia sickle cell anemia squamous cell carcinoma stomach cancer stomach carcinoma sweat gland cancer thalassemia tongue squamous cell carcinoma tuberculosis urinary bladder cancer
3340	N-deacetylase and N-sulfotransferase 1	NDST1 Aliases: N-Deacetylase-N-sulfotransferase 1 NST1 [Heparan sulfate]-glucosamine N-sulfotransferase 1 heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1	Homo sapiens (human)	DiGeorge syndrome Treacher Collins syndrome acute myocardial infarction adult respiratory distress syndrome agnosia autism spectrum disorder autosomal recessive intellectual developmental disorder 46 azoospermia breast cancer breast carcinoma cancer cerebral degeneration chikungunya choreatic disease chromophobe renal cell carcinoma chronic fatigue syndrome clear cell renal cell carcinoma collecting duct carcinoma congenital diaphragmatic hernia coronary thrombosis dengue hemorrhagic fever depressive disorder developmental coordination disorder diabetes mellitus diabetic ketoacidosis dysthymic disorder dystonia embryoma encephalitis encephalomyelitis epilepsy focal epilepsy gastrointestinal stromal tumor giant cell glioblastoma glioblastoma glomerulonephritis hiatus hernia high grade glioma hypereosinophilic syndrome intellectual disability kidney disease learning disability lingual-facial-buccal dyskinesia liver cirrhosis major depressive disorder melancholic depression microcephaly microphthalmia myelitis myocardial infarction nephritis nephrosis neurotic disorder newborn respiratory distress syndrome nonpapillary renal cell carcinoma obsolete infantile epileptic encephalopathy obsolete melancholia papillary renal cell carcinoma partial motor epilepsy pyoureter renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma silent myocardial infarction stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 type 2 diabetes mellitus velocardiofacial syndrome visual epilepsy
5238	phosphoglucomutase 3	PGM3 Aliases: AGM1 DKFZP434B187 PAGM acetylglucosamine phosphomutase phosphoacetylglucosamine mutase	Homo sapiens (human)	Desbuquois dysplasia Laron syndrome MHC class II deficiency Richter's syndrome achondroplasia adenosine deaminase deficiency agranulocytosis allergic asthma allergic rhinitis asthma atopic dermatitis bacterial sepsis breast cancer breast carcinoma bronchiectasis cancer central nervous system lymphoma cervical cancer chronic ethmoiditis chronic lymphocytic leukemia chronic sphenoidal sinusitis chronic ulcer of skin combined T cell and B cell immunodeficiency congenital disorder of glycosylation cystic fibrosis dermatitis epilepsy esophagitis gastroesophageal reflux disease granuloma annulare hemolytic anemia hyper IgE recurrent infection syndrome 1 hypereosinophilic syndrome immunodeficiency 23 intellectual disability intrinsic asthma lactose intolerance learning disability lymphoma lymphopenia membranoproliferative glomerulonephritis mucopolysaccharidosis IV multiple epiphyseal dysplasia neuropathy neutropenia obsolete ymphosarcoma osteochondrodysplasia osteomyelitis otitis media pancytopenia peptic esophagitis peripheral nervous system disease polyneuropathy primary immunodeficiency disease scoliosis sensorineural hearing loss severe combined immunodeficiency severe congenital neutropenia subacute sclerosing panencephalitis teratoma vasomotor rhinitis visual epilepsy
9917	FAM20B glycosaminoglycan xylosylkinase	FAM20B Aliases: GXK1 KIAA0475	Homo sapiens (human)	Desbuquois dysplasia Ehlers-Danlos syndrome osteogenesis imperfecta parapsoriasis psoriasis pustulosis of palm and sole

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