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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 **451 - 475** of **1582** in total

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Gene ID	Gene Name ▲	Gene Symbol	Organism	Disease Ontology
26229	beta-1,3-glucuronyltransferase 3	B3GAT3 Aliases: GlcAT-I galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 glucuronosyltransferase I	Homo sapiens (human)	Hailey-Hailey disease Laron syndrome Larsen-like syndrome B3GAT3 type Marfan syndrome Rothmund-Thomson syndrome achondroplasia amblyopia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autosomal dominant 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 bicuspid aortic valve disease buphthalmos cancer cleft palate cleidocranial dysplasia clubfoot communicating hydrocephalus congenital heart disease craniosynostosis cutis laxa esotropia geroderma osteodysplasticum glaucoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hydrophthalmos hyperopia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis isolated cleft palate juvenile glaucoma liver cancer liver carcinoma mal de Meleda mitral valve insufficiency mitral valve prolapse monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia obstructive hydrocephalus osteochondrodysplasia osteoporosis patent foramen ovale postinflammatory pulmonary fibrosis postural orthostatic tachycardia syndrome pulmonary fibrosis radioulnar synostosis refractive error restrictive dermopathy scoliosis senile degeneration of brain situs inversus strabismic amblyopia thoracic aortic aneurysm tuberous sclerosis
2583	beta-1,4-N-acetyl-galactosaminyltransferase 1	B4GALNT1 Aliases: GD2 synthase, GM2 synthase beta1-4GalNAc-T	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura MASA syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome SPOAN syndrome Troyer syndrome alternating hemiplegia of childhood androgen insensitivity syndrome autonomic neuropathy breast cancer breast carcinoma cancer cataract central nervous system disease chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease diabetic ketoacidosis dystonia embryoma eunuchism gastrointestinal system cancer giant cell glioblastoma glioblastoma hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia high grade glioma hypersensitivity vasculitis hypogonadism intellectual disability intestinal benign neoplasm intestinal cancer learning disability lingual-facial-buccal dyskinesia liver cancer melanoma nervous system disease neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 ovarian cancer ovarian carcinoma papillary renal cell carcinoma paraplegia premature menopause pseudobulbar palsy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma scoliosis skin melanoma 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
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
283358	beta-1,4-N-acetyl-galactosaminyltransferase 3	B4GALNT3 Aliases: B4GalNac-T3 FLJ16224 FLJ40362	Homo sapiens (human)	arthritis arthropathy cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma embryoma idiopathic scoliosis large intestine cancer osteoarthritis ovarian cancer papillary adenocarcinoma papillary renal cell carcinoma thyroid gland papillary carcinoma
338707	beta-1,4-N-acetyl-galactosaminyltransferase 4	B4GALNT4 Aliases: FLJ25045 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase NGalNAc-T1	Homo sapiens (human)	cancer embryoma ovarian cancer
2683	beta-1,4-galactosyltransferase 1	B4GALT1 Aliases: Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase N-acetyllactosamine synthase beta4Gal-T1 lactose synthase A	Homo sapiens (human)	Dandy-Walker syndrome IgA glomerulonephritis arteriosclerotic cardiovascular disease atherosclerosis bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer childhood leukemia chronic myeloid leukemia colorectal cancer colorectal carcinoma congenital disorder of glycosylation type IId congenital disorder of glycosylation coronary artery disease diabetic ketoacidosis embryoma endocrine system disease familial periodic paralysis hepatitis hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels large intestine cancer leukemia liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma mastitis myopathy obsolete type 1 diabetes mellitus 9 rheumatoid arthritis 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 urinary bladder cancer
8704	beta-1,4-galactosyltransferase 2	B4GALT2 Aliases: Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase N-acetyllactosamine synthase beta4Gal-T2 lactose synthase A	Homo sapiens (human)	attention deficit hyperactivity disorder cervical cancer colorectal cancer colorectal carcinoma diabetic cataract diabetic retinopathy large intestine cancer
8703	beta-1,4-galactosyltransferase 3	B4GALT3 Aliases: beta4Gal-T3	Homo sapiens (human)	bladder carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma colorectal cancer colorectal carcinoma embryoma large intestine cancer neuroblastoma primary open angle glaucoma urinary bladder cancer
8702	beta-1,4-galactosyltransferase 4	B4GALT4 Aliases: beta4Gal-T4	Homo sapiens (human)	prostate cancer prostate carcinoma
9334	beta-1,4-galactosyltransferase 5	B4GALT5 Aliases: beta4-GalT IV beta4GalT-V	Homo sapiens (human)	cancer central nervous system cancer colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis embryoma gliosarcoma high grade glioma large intestine cancer mixed glioma multiple sclerosis obesity type 2 diabetes mellitus
9331	beta-1,4-galactosyltransferase 6	B4GALT6 Aliases: UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase beta4GalT-VI	Homo sapiens (human)	colorectal cancer colorectal carcinoma large intestine cancer multiple sclerosis skin disease
11285	beta-1,4-galactosyltransferase 7	B4GALT7 Aliases: XGALT-1 beta4Gal-T7 galactosyltransferase I	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Ehlers-Danlos syndrome spondylodysplastic type 1 Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease IgA glomerulonephritis Laron syndrome Larsen-like syndrome B3GAT3 type Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Rothmund-Thomson syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome achondroplasia aortic valve disease 2 aortic valve stenosis arthritis arthropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive Robinow syndrome 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 bone disease cartilage disease chondrodysplasia-pseudohermaphroditism syndrome cleidocranial dysplasia clubfoot colitis collagen disease coloboma congenital disorder of glycosylation type IId congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 connective tissue disease cryptorchidism cutis laxa enophthalmos gastroenteritis gingivitis hepatocellular carcinoma humeroradial synostosis ileitis ileocolitis lipoatrophic diabetes mellitus lipodystrophy liver cancer mal de Meleda microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II mucopolysaccharidosis IV multiple epiphyseal dysplasia obsolete exophthalmos orbital disease osteoarthritis osteochondrodysplasia osteogenesis imperfecta pulmonary valve stenosis radioulnar synostosis restrictive dermopathy rheumatoid arthritis scoliosis skin disease spermatic cord torsion trichohepatoenteric syndrome 1 trichohepatoenteric syndrome
11041	beta-1,4-glucuronyltransferase 1	B4GAT1 Aliases: B3GN-T1 BETA3GNTI IGnT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase iGAT	Homo sapiens (human)	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome anencephaly 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 blindness breast cancer breast carcinoma cataract centronuclear myopathy coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 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 A13 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism distal myopathy facioscapulohumeral muscular dystrophy glaucoma hydranencephaly hydrocephalus hydronephrosis isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lissencephaly megaconial type congenital muscular dystrophy 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 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type
4248	beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase	MGAT3 Aliases: GNT-III	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome brachydactyly type C brachydactyly breast cancer cancer cerebral degeneration chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma embryoma hepatitis B hepatocellular carcinoma inflammatory bowel disease liver cancer ovarian cancer ovarian carcinoma papillary renal cell carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
570	bile acid-CoA:amino acid N-acyltransferase	BAAT Aliases: BAT glycine N-choloyltransferase	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Ehlers-Danlos syndrome Graves' disease Hantavirus hemorrhagic fever with renal syndrome Lynch 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 Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma atypical hemolytic-uremic syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bacterial sepsis basal cell carcinoma blood coagulation disease breast cancer breast carcinoma cancer carcinoma cervical cancer cholestasis chondrodysplasia-pseudohermaphroditism syndrome colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism coronary thrombosis diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis familial hypercholesterolemia fibroepithelial basal cell carcinoma follicular adenoma giant cell glioblastoma glioblastoma hemolytic-uremic syndrome hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperthyroidism hypothyroidism infertility islet cell tumor large intestine cancer lipoma lung cancer lung non-small cell carcinoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma morbid obesity myelodysplastic syndrome myocardial infarction myxedema obesity obsolete inherited blood coagulation disease obsolete steatorrhea obsolete type 1 diabetes mellitus 9 osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteomalacia papillary adenoma pleomorphic lipoma pneumonia polycystic ovary syndrome prostate cancer prostate carcinoma rickets sarcomatoid carcinoma silent myocardial infarction steatotic liver disease stomach cancer stomach carcinoma thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma thyrotoxicosis tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uterine corpus cancer von Willebrand's disease 1 von Willebrand's disease 3 von Willebrand's disease
670	biphenyl hydrolase like	BPHL Aliases: Bph-rp VACVase breast epithelial mucin-associated antigen valacyclovir hydrolase	Homo sapiens (human)	bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer childhood leukemia childhood osteosarcoma colon carcinoma colorectal cancer embryoma leukemia lung benign neoplasm lung cancer lung carcinoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
669	bisphosphoglycerate mutase	BPGM	Homo sapiens (human)	acquired polycythemia cholecystitis cholecystolithiasis choledocholithiasis cholelithiasis erythropoietin polycythemia familial erythrocytosis 2 familial erythrocytosis 8 normocytic anemia polycythemia vera polycythemia stress polycythemia
680	bombesin receptor subtype 3	BRS3	Homo sapiens (human)
683	bone marrow stromal cell antigen 1	BST1 Aliases: ADP-ribosyl cyclase 2 BST-1 CD157 NAD(+) nucleosidase cADPR2 cyclic ADP-ribose hydrolase	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Burkitt lymphoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome acute monocytic leukemia acute myeloid leukemia allergic asthma asthma autism spectrum disorder autistic disorder benign mesothelioma benign pleural mesothelioma bronchus cancer bronchus carcinoma cancer cerebral degeneration chronic lymphocytic leukemia depressive disorder dysthymic disorder embryoma essential hypertension hypertension inflammatory and toxic neuropathy intrinsic asthma lung benign neoplasm lung cancer lung carcinoma lung disease major depressive disorder malignant mesothelioma malignant pleural mesothelioma melancholic depression neurotic disorder obsolete melancholia ovarian cancer ovarian carcinoma paroxysmal nocturnal hemoglobinuria pleural tuberculosis pneumonia prion disease prostate cancer prostate carcinoma tuberculosis
684	bone marrow stromal cell antigen 2	BST2 Aliases: BST-2 CD317 HM1.24 antiviral factor tetherin tetherin	Homo sapiens (human)	Burkitt lymphoma Down syndrome Ebola hemorrhagic fever Japanese encephalitis Sjogren's syndrome acquired immunodeficiency syndrome alternating hemiplegia of childhood anaplastic astrocytoma angioedema arthritis arthropathy autonomic neuropathy bladder carcinoma brain cancer breast cancer breast carcinoma cancer central nervous system disease chikungunya childhood cerebral astrocytoma childhood leukemia chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma conduct disorder dengue disease dengue hemorrhagic fever embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma exanthem fibrillary astrocytoma gemistocytic astrocytoma head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatitis C hepatitis E hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease influenza juvenile pilocytic astrocytoma kwashiorkor large intestine cancer leukemia liver cancer lupus erythematosus malignant astrocytoma marasmus melanoma multiple myeloma multiple sclerosis nasopharynx carcinoma nervous system disease nonpapillary renal cell carcinoma nutrition disease oral squamous cell carcinoma osteoarthritis papillary renal cell carcinoma parapsoriasis peeling skin syndrome pilocytic astrocytoma primary immunodeficiency disease protein-energy malnutrition protoplasmic astrocytoma psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma scleroderma severe acute respiratory syndrome skin disease skin melanoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus systemic scleroderma transitional cell carcinoma urinary bladder cancer urticaria uterine corpus cancer viral infectious disease yellow fever
593	branched chain keto acid dehydrogenase E1 subunit alpha	BCKDHA Aliases: MSU maple syrup urine disease	Homo sapiens (human)	Crohn's colitis Crohn's disease acute pancreatitis arthritis arthropathy bacterial sepsis brain edema cerebral infarction cerebrovascular disease epilepsy gout hypoglycemia inflammatory bowel disease 1 inflammatory bowel disease intellectual disability lactic acidosis learning disability maple syrup urine disease pancreatitis placental insufficiency shigellosis trichohepatoenteric syndrome 1 trichohepatoenteric syndrome ulcerative colitis visual epilepsy
594	branched chain keto acid dehydrogenase E1 subunit beta	BCKDHB Aliases: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial maple syrup urine disease	Homo sapiens (human)	Alzheimer's disease 12 Kaposi's sarcoma acute pancreatitis androgen insensitivity syndrome brain edema cancer celiac disease embryoma epilepsy hepatitis B hepatocellular carcinoma hypoglycemia intellectual disability lactic acidosis learning disability liver cancer maple syrup urine disease pancreatic cancer pancreatic carcinoma pancreatitis premature menopause primary ovarian insufficiency systemic lupus erythematosus thyroid gland anaplastic carcinoma visual epilepsy
63827	brevican	BCAN Aliases: BEHAB CSPG7 MGC13038 brevican proteoglycan chondroitin sulfate proteoglycan 7	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome bladder carcinoma central nervous system cancer cerebral degeneration giant cell glioblastoma glioblastoma gliosarcoma high grade glioma middle cerebral artery infarction mixed glioma retinitis pigmentosa urinary bladder cancer
1012	cadherin 13	CDH13 Aliases: CDHH H-cadherin (heart) T-cadherin	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Barrett's esophagus Crohn's colitis Crohn's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Langerhans-cell histiocytosis Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adenosarcoma alcohol dependence alcohol use disorder allergic asthma alternating hemiplegia of childhood amphetamine abuse androgen insensitivity syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autonomic neuropathy basal cell carcinoma bipolar disorder bladder carcinoma bladder urothelial carcinoma bone cancer breast cancer breast carcinoma breast tubular carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease carotid artery disease central nervous system cancer central nervous system disease central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chromophobe renal cell carcinoma chronic kidney disease chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common variable immunodeficiency congenital hypothyroidism coronary artery disease coronary restenosis coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diffuse large B-cell lymphoma disease of mental health disease of metabolism dysthymic disorder embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial retinoblastoma follicular adenoma gallbladder cancer giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma granulosa cell tumor head and neck squamous cell carcinoma heart disease hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypertension hypothyroidism idiopathic scoliosis impotence inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma islet cell tumor kidney disease large intestine cancer leukemia liver cancer liver cirrhosis luminal breast carcinoma A lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoid leukemia lymphoma major depressive disorder malaria melancholic depression melanoma microcystic adenoma mixed glioma muscle benign neoplasm muscle cancer myeloid leukemia myocardial infarction myxedema nasopharynx carcinoma nephritis nephroblastoma nephrosis nervous system disease neuroblastoma neurotic disorder nicotine dependence non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis pituitary adenoma pituitary cancer pituitary carcinoma premature ejaculation prostate cancer prostate carcinoma psoriasis psychologic dyspareunia psychotic disorder pulmonary tuberculosis pustulosis of palm and sole pyoureter renal carcinoma renal cell carcinoma reticulosarcoma retinoblastoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia silent myocardial infarction skin melanoma skin squamous cell carcinoma squamous cell carcinoma stomach cancer stomach carcinoma substance abuse substance-related disorder systemic lupus erythematosus tarsal-carpal coalition syndrome thyroid gland anaplastic carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tuberculous pneumothorax tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer
781	calcium voltage-gated channel auxiliary subunit alpha2delta 1	CACNA2D1 Aliases: alpha2delta-1 lncRNA-N3	Homo sapiens (human)	Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome West syndrome Williams-Beuren syndrome acute myeloid leukemia amelogenesis imperfecta type 1G atrial fibrillation atrioventricular block azoospermia brain infarction cancer cardiac arrest colon cancer colonic benign neoplasm colorectal cancer depressive disorder developmental and epileptic encephalopathy 110 embryoma epilepsy essential hypertension glaucoma hepatocellular carcinoma hypertension idiopathic scoliosis intellectual disability large intestine cancer learning disability liver cancer major depressive disorder malignant hyperthermia melancholic depression neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia primary open angle glaucoma short QT syndrome sick sinus syndrome stomach cancer stomach carcinoma supravalvular aortic stenosis uveal melanoma

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