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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 **2001 - 2025** of **393515** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▼
8395	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	PIP5K1B Aliases: MSS4 STM7	Homo sapiens (human)	Friedreich ataxia 1 Friedreich ataxia allergic asthma asthma cancer chronic kidney disease diabetes mellitus diabetic ketoacidosis embryoma intrinsic asthma osteoporosis pancreatic cancer pancreatic carcinoma type 2 diabetes mellitus
189	alanine--glyoxylate aminotransferase	AGXT Aliases: AGT AGT1 AGXT1 L-alanine: glyoxylate aminotransferase 1 PH1 SPT Ser-PyrAT TLH6 glycolicaciduria oxalosis I primary hyperoxaluria type 1	Homo sapiens (human)	Foster-Kennedy syndrome Laurin-Sandrow syndrome Raynaud disease Senior-Loken syndrome acrodermatitis allergic asthma allergic rhinitis alopecia androgenic alopecia anemia angioedema arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrioventricular block autosomal recessive osteopetrosis 7 beriberi calcinosis calcium metabolism disease cancer carcinoma cerebral infarction cerebrovascular disease chronic kidney disease coronary artery disease cystinuria dermatitis disease of metabolism distal arthrogryposis eosinophilic esophagitis essential hypertension extraosseous Ewing sarcoma extraosseous Ewings sarcoma-primitive neuroepithelial tumor galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease hepatocellular carcinoma hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory neuropathy high grade glioma hypercalcemia hypertension inherited metabolic disorder intermittent claudication intrinsic asthma kidney failure lactic acidosis liver cancer macrocytic anemia middle cerebral artery infarction nephrocalcinosis nephrolithiasis nephronophthisis neuropathy optic atrophy optic nerve disease osteopetrosis osteosclerosis parasitic helminthiasis infectious disease peripheral nervous system disease peripheral vascular disease phosphorus metabolism disease primary hyperoxaluria type 1 primary hyperoxaluria retinal disease retinitis riboflavin deficiency sarcomatoid carcinoma sensory peripheral neuropathy skin disease subacute bacterial endocarditis thiamine deficiency disease uremia uric acid nephrolithiasis urinary tract obstruction urticaria vasomotor rhinitis visual pathway disease
5660	prosaposin	PSAP Aliases: saposin-A saposin-B saposin-C saposin-D variant Gaucher disease and variant metachromatic leukodystrophy	Homo sapiens (human)	Farber lipogranulomatosis Gaucher's disease type I Gaucher's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Krabbe disease Marfan syndrome Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Unverricht-Lundborg syndrome X-linked nonsyndromic deafness acquired immunodeficiency syndrome adult fibrosarcoma agnosia allergic asthma amnestic disorder amyotrophic lateral sclerosis anemia aortic valve disease 2 aortic valve stenosis asthma atypical Gaucher's disease due to saposin c deficiency autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness bacterial sepsis blepharospasm breast cancer breast carcinoma cancer candidiasis central nervous system cancer central sleep apnea cholecystitis choreatic disease colitis combined saposin deficiency critical illness polyneuropathy cutaneous candidiasis dementia dental caries dentin caries denture stomatitis depressive disorder dysthymic disorder dystonia early myoclonic encephalopathy embryoma epilepsy fascioliasis fibrosarcoma focal hand dystonia frontotemporal dementia gallbladder cancer gallbladder carcinoma gastroenteritis giant cell glioblastoma glioblastoma gliosarcoma hepatitis B hepatitis E hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease ileitis ileocolitis inflammatory and toxic neuropathy inflammatory bowel disease late onset Parkinson's disease leukodystrophy lingual-facial-buccal dyskinesia lipid storage disease liver cancer lysosomal storage disease macrocytic anemia major depressive disorder malaria melancholic depression meningoencephalitis metachromatic leukodystrophy mixed glioma movement disease multiple myeloma 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 neuropathy neurotic disorder obsolete autosomal recessive nonsyndromic deafness 105 obsolete melancholia optic atrophy oral candidiasis ovarian cancer ovarian carcinoma panic disorder paraplegia parapsoriasis peripheral nervous system disease phobic disorder plasma cell neoplasm polyneuropathy progressive multifocal leukoencephalopathy progressive muscular atrophy prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole retrograde amnesia schizophrenia situs inversus social phobia sphingolipidosis stomach cancer stomach carcinoma stomatitis syndromic X-linked intellectual disability type 10 thrombocytopenia tuberous sclerosis ulcerative stomatitis visual epilepsy vulvovaginal candidiasis vulvovaginitis
8875	vanin 2	VNN2 Aliases: FOAP-4 GPI-80 pantetheinase	Homo sapiens (human)	Fanconi syndrome atopic dermatitis bone osteosarcoma cancer cystinosis disease of metabolism embryoma giant cell glioblastoma glioblastoma high grade glioma malaria osteosarcoma parapsoriasis psoriasis pustulosis of palm and sole spondyloepimetaphyseal dysplasia, Sponastrime type
10555	1-acylglycerol-3-phosphate O-acyltransferase 2	AGPAT2 Aliases: 1-acyl-sn-glycerol-3-phosphate acyltransferase beta LPAAT-beta LPLAT2 lysophosphatidic acid acyltransferase-beta lysophospholipid acyltransferase 2	Homo sapiens (human)	Fanconi syndrome Zollinger-Ellison syndrome acanthosis nigricans acute myocardial infarction acute pancreatitis acute promyelocytic leukemia aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation atrichia with papular lesions bone osteosarcoma bulimia nervosa cancer cardiomyopathy childhood osteosarcoma chronic myeloid leukemia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congestive heart failure coronary artery disease coronary thrombosis cystinosis diabetes mellitus diabetic ketoacidosis embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis familial hypertrophic cardiomyopathy familial partial lipodystrophy familial periodic paralysis glomerulonephritis hydrocephalus hyperinsulinism hypertrichosis hypertrophic cardiomyopathy intellectual disability isolated growth hormone deficiency kidney disease kidney failure learning disability lipoatrophic diabetes mellitus lipodystrophy myocardial infarction myopathy neonatal diabetes nephritis nephrolithiasis nephrosis neuropathy obesity omphalocele osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatitis peripheral nervous system disease polycystic ovary syndrome primary immunodeficiency disease primary pulmonary hypertension pyloric stenosis pyoureter scoliosis silent myocardial infarction steatotic liver disease transient neonatal diabetes mellitus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome type 2 diabetes mellitus umbilical hernia uric acid nephrolithiasis uterine corpus cancer
55247	nei like DNA glycosylase 3	NEIL3 Aliases: FLJ10858 FPG2 ZGRF3 hFPG2 hNEI3 zinc finger, GRF-type containing 3	Homo sapiens (human)	Fanconi anemia acute myocardial infarction basal cell carcinoma cancer coronary thrombosis differentiated thyroid gland carcinoma embryoma giant cell glioblastoma glioblastoma glomerulonephritis hepatocellular carcinoma kidney disease liver cancer myocardial infarction nephritis silent myocardial infarction
4199	malic enzyme 1	ME1 Aliases: NADP-dependent malic enzyme malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))	Homo sapiens (human)	Fanconi anemia complementation group A Fanconi anemia adenocarcinoma adenoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cerebral infarction cerebrovascular disease cholangiocarcinoma clear cell renal cell carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure cribriform carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma epilepsy focal epilepsy giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma kidney cancer kidney failure large cell carcinoma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma major depressive disorder malignant teratoma mature teratoma melancholic depression mixed glioma neurotic disorder obesity obsolete melancholia partial motor epilepsy renal carcinoma renal cell carcinoma squamous cell carcinoma teratoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus sarcoma visual epilepsy
79071	ELOVL fatty acid elongase 6	ELOVL6 Aliases: FLJ23378 LCE MGC5487	Homo sapiens (human)	Fanconi anemia complementation group A Fanconi anemia Zollinger-Ellison syndrome accommodative esotropia acrodermatitis acute myeloid leukemia acute myocardial infarction allergic contact dermatitis amnestic disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis azoospermia bronchus cancer bronchus carcinoma cancer cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis dermatitis diabetes mellitus disease of metabolism dissociative amnesia fundus albipunctatus hepatocellular carcinoma hyperinsulinism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma myocardial infarction nodular prostate obesity parapsoriasis postinflammatory pulmonary fibrosis prostatic adenoma psoriasis psoriatic arthritis pulmonary fibrosis pustulosis of palm and sole retinitis pigmentosa silent myocardial infarction steatotic liver disease type 2 diabetes mellitus
310	annexin A7	ANXA7	Homo sapiens (human)	Fanconi anemia complementation group A Fanconi anemia Richter's syndrome acute myocardial infarction adenocarcinoma adenoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood leukemia chronic lymphocytic leukemia colon adenocarcinoma colorectal cancer colorectal carcinoma coronary thrombosis craniosynostosis cribriform carcinoma embryoma esophageal cancer esophageal carcinoma gastric adenocarcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma large intestine cancer leukemia liver cancer liver carcinoma malaria melanoma mixed glioma myocardial infarction nasopharynx carcinoma nodular prostate non-Hodgkin lymphoma ovarian cancer prostate cancer prostate carcinoma prostatic adenoma silent myocardial infarction skin cancer skin melanoma stomach cancer stomach carcinoma tubular adenocarcinoma
4126	mannosidase beta	MANBA Aliases: beta-mannosidase A	Homo sapiens (human)	Fabry disease allergic asthma allergic disease alternating hemiplegia of childhood angiokeratoma ascending cholangitis asthma attention deficit hyperactivity disorder autonomic neuropathy beta-mannosidosis central nervous system disease cholangitis chronic kidney disease chylomicron retention disease colorectal cancer colorectal carcinoma complement deficiency congenital nystagmus dissociated nystagmus epilepsy intellectual disability intrinsic asthma large intestine cancer learning disability lipid storage disease lysosomal storage disease multiple sclerosis nervous system disease obsolete constipation pathologic nystagmus primary biliary cholangitis primary sclerosing cholangitis sarcoidosis sclerosing cholangitis sensorineural hearing loss speech disorder spontaneous ocular nystagmus suppurative cholangitis uveoparotid fever visual epilepsy
51172	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	NAGPA Aliases: APAA UCE	Homo sapiens (human)	Fabry disease alexia chylomicron retention disease dyslexia glycoproteinosis lipid storage disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucopolysaccharidosis III mucopolysaccharidosis type IIIB neurodegenerative disease stuttering
79153	glycerophosphodiester phosphodiesterase domain containing 3	GDPD3 Aliases: MGC4171	Homo sapiens (human)	Fabry disease Wolman disease chylomicron retention disease lipid storage disease
84572	N-acetylglucosamine-1-phosphate transferase subunit gamma	GNPTG Aliases: CAB56184 GlcNAc-phosphotransferase gamma-subunit c316G12.3	Homo sapiens (human)	Fabry disease Laron syndrome achondroplasia alexia aortic valve disease 2 aortic valve insufficiency aortic valve stenosis chylomicron retention disease cone-rod dystrophy dyslexia fundus albipunctatus glycoproteinosis lipid storage disease lysosomal storage disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucolipidosis III gamma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myopia osteochondrodysplasia retinitis pigmentosa scoliosis stuttering
315165	alpha-N-acetylgalactosaminidase	Naga	Rattus norvegicus (Norway rat)	Fabry disease Kanzaki disease Schindler disease type 1 angiokeratoma neuroaxonal dystrophy
17939	N-acetyl galactosaminidase, alpha	Naga	Mus musculus (house mouse)	Fabry disease Kanzaki disease Schindler disease type 1 angiokeratoma neuroaxonal dystrophy
2538	glucose-6-phosphatase catalytic subunit 1	G6PC1 Aliases: GSD1a glycogen storage disease type I, von Gierke disease	Homo sapiens (human)	Fabry disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Laron syndrome Zollinger-Ellison syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis anemia blood coagulation disease bone marrow cancer breast cancer cancer carcinoma chromophobe renal cell carcinoma chronic kidney disease chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma cystinuria diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma epilepsy essential hypertension eyelid disease familial hyperlipidemia familial periodic paralysis focal segmental glomerulosclerosis follicular adenoma galactosemia gallbladder disease gastrointestinal system disease gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance glucose metabolism disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease VIII glycogen storage disease gout hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertension hyperuricemia hypoglycemia insulinoma intestinal disease kidney disease kidney failure kwashiorkor lactic acidosis leukopenia lipid storage disease liver cancer liver disease macrocytic anemia marasmus methemoglobinemia microcystic adenoma myeloproliferative neoplasm myopathy nephritis nephrolithiasis nephrosis neuroblastoma neutropenia nonpapillary renal cell carcinoma nutrition disease obesity obsolete type 1 diabetes mellitus 9 osteoporosis ovarian cancer ovarian carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma placental insufficiency polycystic ovary syndrome prediabetes syndrome protein-energy malnutrition proteinuria pyoureter renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma severe congenital neutropenia steatotic liver disease sudden infant death syndrome sulfhemoglobinemia 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 uremia uric acid nephrolithiasis uterine corpus cancer visual epilepsy xanthomatosis
2717	galactosidase alpha	GLA Aliases: GALA	Homo sapiens (human)	Fabry disease Gaucher's disease Goodpasture syndrome Horner's syndrome Laron syndrome Meckel syndrome Moyamoya disease Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Riley-Day syndrome Takayasu's arteritis X-linked agammaglobulinemia Zollinger-Ellison syndrome achondroplasia acquired hyperkeratosis acute myocardial infarction allergic asthma anemia angiokeratoma anhidrosis antithrombin III deficiency anxiety disorder arthritis arthropathy asthma atrial fibrillation atrioventricular block autosomal dominant polycystic kidney disease bacterial vaginosis breast cancer breast fibrocystic disease brucellosis cancer cardiomyopathy cardiovascular system disease cataract central nervous system origin vertigo cerebral infarction cerebrovascular disease chronic kidney disease chronic obstructive pulmonary disease chylomicron retention disease congenital hypogammaglobulinemia congestive heart failure corneal dystrophy coronary thrombosis cystinuria depressive disorder diabetes insipidus diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism dysthymic disorder elephantiasis endomyocardial fibrosis epilepsy erythromelalgia essential hypertension familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial nephrotic syndrome fibromyalgia galactosemia generalized anxiety disorder glaucoma glomerulonephritis 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 granulomatosis with polyangiitis heart disease hyperinsulinism hypertension hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypohidrosis influenza inherited metabolic disorder interstitial nephritis intrinsic asthma keratosis follicularis kidney disease kidney failure late onset Parkinson's disease lipid storage disease lipoid nephrosis lung disease lymphedema lysosomal storage disease macrocytic anemia major depressive disorder melancholic depression mevalonic aciduria microglandular adenosis mitral valve insufficiency mitral valve prolapse mongolian spot multiple sclerosis myocardial infarction myositis nephritis nephrosis nephrotic syndrome neurohypophyseal diabetes insipidus neuropathy neurotic disorder obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive lung disease optic atrophy osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease pneumonia polyarteritis nodosa polyneuropathy priapism protein C deficiency protein S deficiency proteinuria pseudoxanthoma elasticum pyelitis pyelonephritis pyoureter recurrent corneal erosion renal infectious disease sensorineural hearing loss sick sinus syndrome silent myocardial infarction sphingolipidosis thrombophilia thyroid gland papillary carcinoma transient cerebral ischemia 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 uremia vaginitis vascular disease vertebrobasilar insufficiency visual epilepsy vitamin K deficiency bleeding vulvitis vulvovaginal candidiasis vulvovaginitis
57124	CD248 molecule	CD248 Aliases: TEM1 endosialin tumor endothelial marker 1	Homo sapiens (human)	Ewing sarcoma anaplastic astrocytoma arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bone osteosarcoma brain cancer cancer carcinoma childhood cerebral astrocytoma childhood osteosarcoma chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease diarrhea disease of metabolism embryoma epithelioid sarcoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease influenza juvenile pilocytic astrocytoma large intestine cancer liver cancer liver cirrhosis lung small cell carcinoma malignant astrocytoma melanoma meningitis neuroblastoma obesity osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pilocytic astrocytoma pneumonia protoplasmic astrocytoma psoriatic arthritis rheumatoid arthritis sarcoma sarcomatoid carcinoma scleroderma shigellosis skin benign neoplasm skin cancer skin melanoma spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic scleroderma thrombotic thrombocytopenic purpura tongue squamous cell carcinoma urinary tract obstruction
1558	cytochrome P450 family 2 subfamily C member 8	CYP2C8 Aliases: CPC8	Homo sapiens (human)	Ewing sarcoma Plasmodium falciparum malaria acute lymphoblastic leukemia acute myocardial infarction agranulocytosis allergic asthma alternating hemiplegia of childhood anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis autonomic neuropathy bacterial sepsis breast cancer breast carcinoma cancer central nervous system disease cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia chronic kidney disease chronic myeloid leukemia coronary artery disease coronary thrombosis diabetes mellitus embryoma end stage renal disease essential hypertension essential tremor gastrointestinal stromal tumor glomerulonephritis gout hepatocellular carcinoma hypertension hypoglycemia intrinsic asthma kidney disease leukopenia liver cancer lung cancer lung non-small cell carcinoma lymphoblastic lymphoma macrocytic anemia malaria middle cerebral artery infarction multiple myeloma myocardial infarction nephritis nephrosis nervous system disease neuropathy neutropenia nutmeg liver osteonecrosis ovarian cancer ovarian carcinoma peptic ulcer disease peripheral nervous system disease polyneuropathy prostate cancer prostate carcinoma pseudosarcomatous fibromatosis pyoureter renal hypertension severe congenital neutropenia silent myocardial infarction squamous cell carcinoma sudden infant death syndrome thrombocytopenia tongue squamous cell carcinoma type 2 diabetes mellitus
971	CD72 molecule	CD72 Aliases: CD72b LYB2	Homo sapiens (human)	Evans' syndrome acute lymphoblastic leukemia adult acute lymphocytic leukemia arthus reaction autoimmune thrombocytopenic purpura benign mastocytoma childhood acute lymphocytic leukemia extracutaneous mastocytoma lupus erythematosus mast cell neoplasm mastocytosis scleroderma systemic lupus erythematosus systemic scleroderma thrombocytopenia due to platelet alloimmunization thrombocytopenia urticaria pigmentosa
8930	methyl-CpG binding domain 4, DNA glycosylase	MBD4 Aliases: MED1	Homo sapiens (human)	Evans' syndrome Hantavirus hemorrhagic fever with renal syndrome Marinesco-Sjogren syndrome abdominal aortic aneurysm achromatopsia acquired color blindness acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma aortic aneurysm autistic disorder autoimmune thrombocytopenic purpura biliary atresia bladder carcinoma blue color blindness breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma colon cancer colon carcinoma colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma cribriform carcinoma disease of metabolism embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma follicular adenoma gastrointestinal system cancer gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma microcystic adenoma mixed glioma osteomyelitis papillary adenoma primary cerebellar degeneration red color blindness red-green color blindness rheumatoid arthritis sarcomatoid carcinoma scleroderma stomach cancer stomach carcinoma systemic lupus erythematosus systemic scleroderma temporal arteritis thrombocytopenia due to platelet alloimmunization thrombocytopenia tubular adenocarcinoma urinary bladder cancer uterine corpus cancer uveal melanoma
9060	3'-phosphoadenosine 5'-phosphosulfate synthase 2	PAPSS2 Aliases: ATPSK2 PAPS synthase 2 adenosine 5'-phosphosulfate kinase bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	Homo sapiens (human)	Ehlers-Danlos syndrome Laron syndrome Marfan syndrome achondroplasia acne anovulation arthritis arthropathy brachyolmia diabetes mellitus diastrophic dysplasia hyperandrogenism hypertrichosis intellectual disability learning disability mucopolysaccharidosis IV multiple epiphyseal dysplasia osteoarthritis osteochondrodysplasia osteogenesis imperfecta polycystic ovary syndrome scoliosis situs inversus spondyloepimetaphyseal dysplasia, Pakistani type tuberous sclerosis type 2 diabetes mellitus
5167	ectonucleotide pyrophosphatase/phosphodiesterase 1	ENPP1 Aliases: PC-1 PCA1	Homo sapiens (human)	Ehlers-Danlos syndrome HCL-V Laron syndrome McCune Albright syndrome X-linked dominant hypophosphatemic rickets Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne acquired hyperkeratosis acute myocardial infarction adult astrocytic tumor allergic asthma amelogenesis imperfecta anaplastic astrocytoma anemia angioid streaks ankylosing spondylitis ankylosis aortic valve disease 1 aortic valve disease 2 aortic valve disease aortic valve stenosis arterial calcification of infancy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autosomal dominant hypophosphatemic rickets autosomal recessive hypophosphatemic rickets autosomal recessive osteopetrosis 7 bicuspid aortic valve disease bile duct adenocarcinoma bile duct cancer bile duct carcinoma bile duct disease blindness bone disease brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cardiovascular system disease carotid artery disease cartilage disease cerebral infarction cerebrovascular disease childhood astrocytic tumor childhood cerebral astrocytoma cholangiocarcinoma chondrocalcinosis chronic kidney disease colorectal cancer colorectal carcinoma congenital hypothyroidism congenital toxoplasmosis congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis end stage renal disease endometriosis of ovary endometriosis of uterus endometriosis enthesopathy essential hypertension exanthem fibrillary astrocytoma gemistocytic astrocytoma gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance hairy cell leukemia heart disease hepatitis C hepatocellular carcinoma hereditary elliptocytosis herpes simplex high grade glioma hypercalcemia hypercementosis hyperglycemia hyperinsulinism hyperphosphatemic familial tumoral calcinosis hypertension hypophosphatemia hypothyroidism insulinoma intermittent claudication intrinsic asthma juvenile pilocytic astrocytoma keratosis follicularis kidney disease kidney failure large intestine cancer linear nevus sebaceous syndrome liver cancer lung benign neoplasm lung cancer lung carcinoma macrocytic anemia malignant astrocytoma melanoma mitral valve insufficiency mitral valve prolapse mongolian spot monoclonal gammopathy of uncertain significance morbid obesity mucopolysaccharidosis IV multiple epiphyseal dysplasia multiple myeloma musculoskeletal system disease myelitis myocardial infarction myopia myxedema nephritis nephrocalcinosis nephrosis neurogenic arthropathy nodular prostate nonepidermolytic palmoplantar keratoderma nutmeg liver obesity obsolete type 1 diabetes mellitus 9 ossification of the posterior longitudinal ligament of spine osteoarthritis osteochondrodysplasia osteogenesis imperfecta osteomalacia osteopetrosis osteoporosis osteosclerosis otitis media palmoplantar keratosis pancreatic cancer pancreatic carcinoma periarthritis perinatal intestinal perforation peripheral artery disease peripheral vascular disease phosphorus metabolism disease pilocytic astrocytoma plasmacytoma pneumocystosis polycystic ovary syndrome polycythemia vera polycythemia postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma pseudoxanthoma elasticum pulmonary valve stenosis pyoureter restrictive cardiomyopathy retinal disease retinitis rheumatoid arthritis rickets sarcomatoid carcinoma scoliosis sensorineural hearing loss silent myocardial infarction skin melanoma spondyloarthropathy spondylosis steatotic liver disease subependymal giant cell astrocytoma suppurative periapical periodontitis tendinitis tropical sprue tympanosclerosis 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 uremia viral infectious disease
120227	cytochrome P450 family 2 subfamily R member 1	CYP2R1 Aliases: Vitamin D 25-hydroxylase	Homo sapiens (human)	Ehlers-Danlos syndrome Graves' disease Laron syndrome Sertoli cell-only syndrome Vogt-Koyanagi-Harada disease X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 achondroplasia acute myocardial infarction adenocarcinoma adenoma age related macular degeneration agnosia allergic asthma androgen insensitivity syndrome arteriosclerotic cardiovascular disease asthma atherosclerosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome basal cell carcinoma brain disease brain infarction calcinosis calcium metabolism disease cancer cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma degeneration of macula and posterior pole dental enamel hypoplasia dermatitis developmental coordination disorder diabetes mellitus diabetic ketoacidosis differentiated thyroid gland carcinoma embryoma endometriosis of uterus endometriosis endometritis essential hypertension eunuchism gestational diabetes goiter granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatitis C hepatocellular carcinoma hypercalcemia hypertension hyperthyroidism hypogonadism hypoparathyroidism hypophosphatemia immune system disease intrinsic asthma large intestine cancer liver cancer liver cirrhosis lung cancer lung non-small cell carcinoma macular degeneration mastitis melanoma mitral valve stenosis multiple sclerosis myocardial infarction nephrocalcinosis nonpapillary renal cell carcinoma nutmeg liver obesity obsolete type 1 diabetes mellitus 9 oligospermia osteogenesis imperfecta osteomalacia pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma phosphorus metabolism disease polycystic ovary syndrome pre-eclampsia premature menopause prostate cancer prostate carcinoma pseudohypoparathyroidism renal carcinoma renal cell carcinoma rheumatoid arthritis rickets sarcomatoid renal cell carcinoma secondary hyperparathyroidism silent myocardial infarction skin melanoma squamous cell carcinoma steatotic liver disease thyroid gland disease thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma tuberculosis 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 vitamin D-dependent rickets type 1B
108696563	Beta-1,3-galactosyltransferase 6 L homeolog	b3galt6.L	Xenopus laevis (African clawed frog)	Ehlers-Danlos syndrome spondylodysplastic type 2 spondyloepimetaphyseal dysplasia with joint laxity type 1

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