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 **393301 - 393325** of **393515** in total

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Gene ID ▼	Gene Name	Gene Symbol	Organism	Disease Ontology
2180	acyl-CoA synthetase long chain family member 1	ACSL1 Aliases: ACS1 FACL1 LACS LACS1 LACS2 lignoceroyl-CoA synthase long-chain fatty-acid-coenzyme A ligase 1	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bacterial sepsis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system cancer cervix uteri carcinoma in situ 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 thrombosis diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy endomyocardial fibrosis gliosarcoma glomerulonephritis glucose metabolism disease hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease kidney disease large intestine cancer liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma mixed glioma myocardial infarction nephritis nephrosis nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 papillary renal cell carcinoma pyoureter renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction steatotic liver disease 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 vascular disease
2171	fatty acid binding protein 5	FABP5	Homo sapiens (human)	prostate cancer psoriasis
2137	exostosin like glycosyltransferase 3	EXTL3 Aliases: REG receptor REGR botv glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase	Homo sapiens (human)	MHC class II deficiency acute myeloid leukemia adenosine deaminase deficiency agnosia arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 7 bacterial sepsis brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cherubism chondrodysplasia punctata ciliary body disease cocaine abuse cocaine dependence colorectal cancer colorectal carcinoma coronary artery disease developmental coordination disorder endometriosis of uterus endometriosis epithelioid sarcoma exostosis giant cell glioblastoma glioblastoma head and neck cancer head and neck squamous cell carcinoma hereditary multiple exostoses hypereosinophilic syndrome intellectual disability iris disease large intestine cancer learning disability liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia morphine dependence mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIC mucopolysaccharidosis multiple epiphyseal dysplasia nutmeg liver osteochondrodysplasia osteopetrosis osteosclerosis panuveitis periarthritis pulmonary embolism sarcoma scoliosis secondary syphilis severe combined immunodeficiency spindle cell sarcoma tendinitis tuberculosis uveitis
2135	exostosin like glycosyltransferase 2	EXTL2 Aliases: alpha-1,4-N-acteylhexosaminyltransferase	Homo sapiens (human)	autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 7 cancer chronic kidney disease hereditary multiple exostoses mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIC mucopolysaccharidosis osteopetrosis osteosclerosis
2134	exostosin like glycosyltransferase 1	EXTL1 Aliases: EXTL MGC70794 alpha-N-acetylglucosaminyltransferase II exostosin-L glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase	Homo sapiens (human)	cancer embryoma hereditary multiple exostoses neuroblastoma
2132	exostosin glycosyltransferase 2	EXT2 Aliases: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase SOTV	Homo sapiens (human)	Alzheimer's disease Cenani-Lenz syndactyly syndrome Dent disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Leri-Weill dyschondrosteosis Maffucci syndrome Marfan syndrome Ollier disease Pick's disease Reye syndrome achondroplasia adenosarcoma agnosia anemia arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma cancer cartilage disease cerebral degeneration cherubism chondrosarcoma cleidocranial dysplasia clubfoot congenital hypothyroidism congenital nystagmus connective tissue disease cranial nerve disease cranial nerve palsy craniosynostosis cryptorchidism developmental and epileptic encephalopathy 36 developmental coordination disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus epilepsy esophagitis essential hypertension exostosis familial hypercholesterolemia frontotemporal dementia gastroesophageal reflux disease hereditary multiple exostoses humeroradial synostosis hyperostosis hypertension hypertropia hypothyroidism immune system disease intellectual disability large intestine cancer learning disability lupus nephritis macrocytic anemia mechanical strabismus membranous glomerulonephritis metachondromatosis microcephaly mucopolysaccharidosis III mucopolysaccharidosis type IIIA myxedema nephroblastoma nonsyndromic congenital nail disorder 9 obsolete constipation ophthalmoplegia osteoarthritis osteonecrosis osteosarcoma parietal foramina pathologic nystagmus peptic esophagitis periarthritis radioulnar synostosis scoliosis situs inversus spontaneous ocular nystagmus stereotypic movement disorder strabismus tendinitis tuberous sclerosis type 2 diabetes mellitus ventricular septal defect visual epilepsy
2131	exostosin glycosyltransferase 1	EXT1 Aliases: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase ttv	Homo sapiens (human)	Alzheimer's disease Cenani-Lenz syndactyly syndrome Cornelia de Lange syndrome 4 Cornelia de Lange syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Legg-Calve-Perthes disease Lennox-Gastaut syndrome Leri-Weill dyschondrosteosis Maffucci syndrome Ollier disease Pick's disease Reye syndrome Ritter's disease Werner syndrome achondroplasia acute lymphoblastic leukemia adenocarcinoma adenoma adult acute lymphocytic leukemia anaplastic astrocytoma antisocial personality disorder arthritis arthropathy autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma cancer cartilage disease central nervous system cancer cerebral degeneration cervix uteri carcinoma in situ cherubism childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia chondroblastoma chondroma chondrosarcoma cleidocranial dysplasia clubfoot conduct disorder connective tissue disease cranial nerve disease cranial nerve palsy cribriform carcinoma cryoglobulinemia diabetes mellitus disease of mental health embryoma endometrial cancer endometrial carcinoma epilepsy exostosis familial hypercholesterolemia familial nephrotic syndrome fibrillary astrocytoma fibromyalgia frontotemporal dementia gallbladder disease gemistocytic astrocytoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatitis A hepatitis B hepatitis C hepatitis E hepatitis hepatocellular carcinoma hereditary multiple exostoses high grade glioma humeroradial synostosis hydrocephalus hyperostosis hypogonadism hypogonadotropic hypogonadism 7 with or without anosmia immune system disease intellectual disability juvenile myoclonic epilepsy juvenile pilocytic astrocytoma learning disability leukemia lipoid nephrosis liver cancer liver disease lupus nephritis malignant astrocytoma membranous glomerulonephritis metachondromatosis microcephaly mixed glioma mucopolysaccharidosis III mucopolysaccharidosis type IIIA multiple myeloma myositis nephrotic syndrome osteoarthritis osteonecrosis osteopoikilosis osteoporosis osteosarcoma periarthritis personality disorder pilocytic astrocytoma progeria protoplasmic astrocytoma psychotic disorder radioulnar synostosis rectal benign neoplasm rectum adenocarcinoma rectum cancer rheumatoid arthritis schizophrenia scoliosis spinal cord disease subependymal giant cell astrocytoma tendinitis thrombophilia trichorhinophalangeal syndrome type II tubular adenocarcinoma type 2 diabetes mellitus urinary tract obstruction uterine corpus cancer vasculitis vesicoureteral reflux visual epilepsy
2053	epoxide hydrolase 2	EPHX2 Aliases: ABHD20 bifunctional epoxide hydrolase sEH soluble epoxide 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 B-cell lymphoma Crohn's colitis Crohn's disease IgA glomerulonephritis Langerhans-cell histiocytosis Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sertoli cell-only syndrome Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 acute chest syndrome acute kidney failure acute myocardial infarction adenocarcinoma adenoma adult respiratory distress syndrome anorexia nervosa arcus senilis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation autism spectrum disorder autistic disorder blindness brain stem infarction bronchus cancer bronchus carcinoma cancer cardiovascular system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical squamous cell carcinoma chronic kidney disease chronic obstructive pulmonary disease complement deficiency complex partial epilepsy congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma dementia depressive disorder diabetes mellitus embryoma essential hypertension exudative vitreoretinopathy 1 exudative vitreoretinopathy eyelid disease familial hypercholesterolemia gastrointestinal stromal tumor glomerulonephritis granular cell carcinoma heart disease hyperglycemia hypertension hypertrophic cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease kidney disease lobular neoplasia lung benign neoplasm lung cancer lung carcinoma lupus erythematosus lupus nephritis lymphoma major depressive disorder melancholic depression middle cerebral artery infarction myocardial infarction nephritis newborn respiratory distress syndrome non-Hodgkin lymphoma nutmeg liver obsolete melancholia obsolete ymphosarcoma oligospermia pancreatic cancer pancreatic carcinoma pneumonia primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary emphysema pulmonary hypertension reticulosarcoma retinopathy of prematurity sarcoidosis schizophrenia sick sinus syndrome silent myocardial infarction sudden infant death syndrome systemic lupus erythematosus temporal lobe epilepsy tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uveoparotid fever xanthomatosis
2027	enolase 3	ENO3 Aliases: beta-enolase muscle enriched enolase	Homo sapiens (human)	aortic valve disease 2 aortic valve stenosis autoimmune disease autoimmune lymphoproliferative syndrome bronchus cancer bronchus carcinoma cystinuria disease of metabolism essential hypertension fibromyalgia galactosemia gallbladder disease 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 hypertension immune system disease isolated elevated serum creatine phosphokinase levels liver disease lung benign neoplasm lung cancer lung carcinoma myositis periodontitis pulmonary large cell neuroendocrine carcinoma steatotic liver disease
2026	enolase 2	ENO2 Aliases: NSE gamma-enolase neuron specific enolase neuronal enriched enolase	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 Creutzfeldt-Jakob disease Down syndrome Ewing sarcoma Gilbert syndrome Gilles de la Tourette syndrome Guillain-Barre syndrome Hirschsprung's disease IGSF1 deficiency syndrome Leber congenital amaurosis Leber hereditary optic neuropathy Lewy body dementia Lyme disease Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Parkinsonism Pick's disease Rett syndrome Reye syndrome Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia abdominal obesity-metabolic syndrome 1 acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adenosarcoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult oligodendroglioma allergic asthma alternating hemiplegia of childhood angiomatous meningioma anorectal stricture aseptic meningitis asphyxia neonatorum asthma atrial fibrillation autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial meningitis bacterial sepsis benign meningioma bilirubin metabolic disorder bladder carcinoma bladder urothelial carcinoma brain cancer brain disease brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma childhood oligodendroglioma chromophobe renal cell carcinoma chronic tic disorder clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma complex partial epilepsy congenital heart disease congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congestive heart failure coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diffuse large B-cell lymphoma embryoma encephalitis encephalomyelitis endometrial carcinoma epilepsy eye disease familial retinoblastoma fibrous meningioma focal epilepsy follicular adenoma giant cell glioblastoma glioblastoma glomerulonephritis glycogen storage disease IV glycogen storage disease VI glycogen storage disease VII granular cell carcinoma heroin dependence high grade glioma hyperglycemia hypertension hypoglycemia hypothyroidism immune system disease impotence intracranial hypertension intraorbital meningioma intraventricular meningioma intrinsic asthma kidney disease leukemia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lymphoblastic lymphoma lymphoma major depressive disorder malaria malignant teratoma medulloblastoma medulloepithelioma melancholic depression melanoma meningioma meningoencephalitis meningothelial meningioma microcystic adenoma microcystic meningioma migraine without aura mixed oligodendroglioma-astrocytoma morphine dependence myelitis myeloproliferative disorder with eosinophilia myocardial infarction myxedema nephritis nephroblastoma nephrosis nervous system cancer nervous system disease neuroblastoma neurodegeneration with brain iron accumulation 5 neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neuropathy neurotic disorder nodular prostate nonpapillary renal cell carcinoma obesity obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma olfactory groove meningioma oligodendroglioma opiate dependence optic atrophy optic papillitis ossifying fibromyxoid tumor papillary adenoma papillary carcinoma papillary renal cell carcinoma papilledema paraganglioma parasagittal meningioma partial motor epilepsy peripheral nervous system disease pineal gland cancer pineoblastoma pituitary adenoma polyneuropathy premature ejaculation primary cutaneous amyloidosis proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma psammomatous meningioma pseudotumor cerebri psychologic dyspareunia pulmonary alveolar proteinosis pulmonary large cell neuroendocrine carcinoma pulmonary tuberculosis pyoureter renal carcinoma renal cell carcinoma retinal edema retinoblastoma rhabdomyosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia secondary Parkinson disease secretory meningioma silent myocardial infarction skin melanoma spinal meningioma squamous cell carcinoma squamous cell neoplasm steatotic liver disease subacute delirium supratentorial primitive neuroectodermal tumor synovial sarcoma temporal lobe epilepsy teratoma tic disorder tick-borne encephalitis tongue squamous cell carcinoma toxic shock syndrome transient tic disorder transitional meningioma trilateral retinoblastoma tuberculosis 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 urinary bladder cancer vascular disease viral meningitis visual epilepsy
2023	enolase 1	ENO1 Aliases: MBP-1 PPH alpha-enolase	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 Behcet's disease Burkitt lymphoma Creutzfeldt-Jakob disease Duchenne muscular dystrophy EEC syndrome Fanconi anemia IgG4-related disease Lyme disease Pick's disease Reye syndrome Richter's syndrome acquired immunodeficiency syndrome acrodysostosis acute intermittent porphyria acute interstitial pneumonia acute myocardial infarction adenocarcinoma adenoma allergic asthma anemia anxiety disorder aphthous stomatitis arthritis arthropathy asthma atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune pancreatitis 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 bacterial infectious disease bile duct adenocarcinoma bile duct carcinoma bladder carcinoma blood coagulation disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cholangiocarcinoma cholera chromophobe renal cell carcinoma chronic kidney disease chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital heart disease congenital muscular dystrophy corneal disease coronary thrombosis cribriform carcinoma dermatitis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal arthrogryposis distal myopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma endocarditis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis esophageal cancer esophageal carcinoma essential hypertension exanthem eye disease facioscapulohumeral muscular dystrophy familial retinoblastoma fibromyalgia gastric adenocarcinoma generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemorrhoid hepatitis B hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hyperglycemia hypertension hypoglycemia idiopathic interstitial pneumonia immune system disease infective endocarditis inflammatory bowel disease 1 inflammatory bowel disease influenza intestinal volvulus intrahepatic cholangiocarcinoma intrinsic asthma invasive ductal carcinoma keratoconus kidney disease large intestine cancer leiomyoma limb-girdle muscular dystrophy liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung squamous cell carcinoma lupus nephritis macrocytic anemia male infertility membranous glomerulonephritis microphthalmia middle cerebral artery infarction mixed glioma multiple myeloma multiple sclerosis muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma nasopharynx carcinoma nephritis nephrolithiasis nephrosis neuroblastoma nonpapillary renal cell carcinoma 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 obsolete inherited blood coagulation disease oculopharyngeal muscular dystrophy oral submucous fibrosis osteoarthritis osteoporosis pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma patent ductus arteriosus perinatal necrotizing enterocolitis periodontitis phobic disorder primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension pyoureter reflex sympathetic dystrophy renal carcinoma renal cell carcinoma retinoblastoma rheumatoid arthritis rippling muscle disease 2 sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction spondyloarthropathy spondylosis squamous cell carcinoma stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder systemic lupus erythematosus tongue squamous cell carcinoma trilateral retinoblastoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uric acid nephrolithiasis urinary bladder cancer uterine corpus cancer uterine fibroid vasculitis
1962	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	EHHADH	Homo sapiens (human)	D-bifunctional protein deficiency Fanconi renotubular syndrome 3 Fanconi syndrome Laron syndrome Zollinger-Ellison syndrome achondroplasia amyloidosis bipolar disorder cancer carnitine palmitoyltransferase II deficiency cystinosis cystinuria cytochrome-c oxidase deficiency disease familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 galactosemia gallbladder disease 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 hyperinsulinemic hypoglycemia hyperinsulinism liver cancer liver disease mitochondrial trifunctional protein deficiency osteomalacia prostate cancer prostate carcinoma proteinuria rickets spondyloepimetaphyseal dysplasia, Sponastrime type substance abuse substance-related disorder tuberculosis
1946	ephrin A5	EFNA5 Aliases: AF1 EPH-related receptor tyrosine kinase ligand 7 LERK7	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 Ambras type hypertrichosis universalis congenita IGSF1 deficiency syndrome Norum disease Pick's disease Reye syndrome Tangier disease abdominal aortic aneurysm abetalipoproteinemia acquired immunodeficiency syndrome acute lymphoblastic leukemia acute myeloid leukemia adult medulloblastoma amyotrophic lateral sclerosis anencephaly arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation blindness breast cancer breast carcinoma bulimia nervosa cancer cardiovascular system disease cataract cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease childhood medulloblastoma chondrosarcoma choreaacanthocytosis colitis conduct disorder congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 coronary artery disease cystic fibrosis diffuse large B-cell lymphoma embryoma enophthalmos familial hypobetalipoproteinemia 1 gastric ulcer gastroenteritis heart disease hemiplegia hepatocellular carcinoma human immunodeficiency virus infectious disease hypobetalipoproteinemia hypolipoproteinemia hypothyroidism ileitis ileocolitis infertility inflammatory bowel disease 1 inflammatory bowel disease liver cancer lymphoblastic lymphoma medulloblastoma medullomyoblastoma melanotic medulloblastoma myxedema nicotine dependence nutmeg liver obsessive-compulsive disorder obsolete exophthalmos orbital disease peripheral vascular disease progressive muscular atrophy prostate cancer prostate carcinoma schizophrenia sclerocornea senile cataract spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy synovitis systemic lupus erythematosus tenosynovitis thrombocytopenia ulcerative colitis
1943	ephrin A2	EFNA2 Aliases: ELF-1 EPH-related receptor tyrosine kinase ligand 6 LERK6	Homo sapiens (human)	acute myeloid leukemia breast cancer breast carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma chronic granulomatous disease embryoma endometrial cancer endometrial carcinoma familial retinoblastoma gastrointestinal system cancer giant cell glioblastoma glioblastoma high grade glioma lupus erythematosus nasopharynx carcinoma nodular prostate pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma prostatic adenoma retinoblastoma stomach cancer stomach carcinoma systemic lupus erythematosus trilateral retinoblastoma uterine corpus cancer
1942	ephrin A1	EFNA1 Aliases: ECKLG EPH-related receptor tyrosine kinase ligand 1 GMAN LERK1 Tumor necrosis factor alpha-induced protein 4 gastric cancer metastasis associated long noncoding RNA	Homo sapiens (human)	acute myocardial infarction adenocarcinoma adenoma allergic asthma arteriovenous malformation asthma benign giant cell tumor bladder carcinoma bone osteosarcoma botryoid rhabdomyosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon carcinoma colorectal cancer colorectal carcinoma coronary thrombosis cribriform carcinoma diabetic ketoacidosis distal arthrogryposis embryoma embryonal rhabdomyosarcoma esophagus squamous cell carcinoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma intestinal benign neoplasm intestinal cancer intrinsic asthma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma malignant pleural mesothelioma melanoma mixed glioma myocardial infarction nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 osteosarcoma ovarian cancer ovarian carcinoma papillary renal cell carcinoma pre-eclampsia primary pulmonary hypertension renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma transitional cell carcinoma 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 urinary bladder cancer
1892	enoyl-CoA hydratase, short chain 1	ECHS1 Aliases: SCEH short chain enoyl-CoA hydratase	Homo sapiens (human)	3-methylglutaconic aciduria Balo concentric sclerosis Hailey-Hailey disease Leigh disease Rothmund-Thomson syndrome adrenoleukodystrophy alcohol dependence alcohol use disorder anemia 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 breast cancer breast carcinoma cancer cardiomyopathy central nervous system disease childhood onset GLUT1 deficiency syndrome 2 chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy congenital nystagmus congenital ptosis cutis laxa disease of metabolism dissociated nystagmus dystonia embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia fundus albipunctatus generalized dystonia giant cell glioblastoma glioblastoma hepatitis A hepatitis hepatocellular carcinoma high grade glioma hypertrichosis hypertrophic cardiomyopathy hypertropia inherited metabolic disorder lactic acidosis leukodystrophy lingual-facial-buccal dyskinesia liver cancer liver carcinoma macrocytic anemia mal de Meleda mechanical strabismus mitochondrial metabolism disease narcolepsy nervous system disease neuropathy nonpapillary renal cell carcinoma obesity ophthalmoplegia optic atrophy overnutrition papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease periventricular leukomalacia ptosis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal carcinoma renal cell carcinoma restrictive dermopathy retinitis pigmentosa sarcomatoid renal cell carcinoma sensorineural hearing loss spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ventricular septal defect visual epilepsy
1890	thymidine phosphorylase	TYMP Aliases: gliostatin	Homo sapiens (human)	Barrett's esophagus Kallmann syndrome Leigh disease Sheehan syndrome adenocarcinoma adenoma anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis basal cell carcinoma benign mesothelioma bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood cerebral astrocytoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common bile duct neoplasm congenital ptosis coronary artery disease cribriform carcinoma diabetes mellitus diarrhea ductal carcinoma in situ embryoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis esophagus adenocarcinoma esophagus squamous cell carcinoma fibrillary astrocytoma gallbladder cancer gallbladder carcinoma gastrointestinal system cancer gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma heart disease hepatic veno-occlusive disease hepatocellular carcinoma high grade glioma 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 inherited metabolic disorder intellectual disability 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 large intestine cancer learning disability leukodystrophy liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma malignant astrocytoma malignant mesothelioma marasmus mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome 8b mitochondrial encephalomyopathy mitochondrial metabolism disease mitochondrial myopathy mixed glioma multiple myeloma nasopharynx carcinoma neuroblastoma neuropathy nonpapillary renal cell carcinoma nutrition disease ophthalmoplegia oropharynx cancer ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal carcinoma panhypopituitarism papillary adenocarcinoma papillary renal cell carcinoma paraganglioma peripheral nervous system disease peritoneal carcinoma pilocytic astrocytoma polyneuropathy prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma ptosis rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma seminoma serous cystadenocarcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma teratoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tropical sprue tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer
1836	solute carrier family 26 member 2	SLC26A2 Aliases: DTDST diastrophic dysplasia sulfate transporter	Homo sapiens (human)	Baraitser-Winter syndrome Bartter disease Clostridium difficile colitis Conn's syndrome Fraser syndrome Goldenhar syndrome Laron syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Pendred Syndrome Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Waterhouse-Friderichsen syndrome Weissenbacher-Zweymuller syndrome achondrogenesis type IB achondroplasia adenocarcinoma adenoma arthritis arthropathy atelosteogenesis auditory system disease autosomal recessive osteopetrosis 7 benign mesothelioma brachydactyly branchiootic syndrome breast cancer cancer chondrodysplasia punctata cleft palate clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure cryptorchidism cystic lymphangioma diarrhea diastrophic dysplasia disease of metabolism dyshormonogenic goiter embryoma endometritis fibrosarcoma follicular adenoma inguinal hernia irritable bowel syndrome isolated cleft palate juvenile rheumatoid arthritis large intestine cancer laryngostenosis lingual-facial-buccal dyskinesia lung benign neoplasm lung cancer lung non-small cell carcinoma malignant mesothelioma mastitis microcystic adenoma movement disease mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple epiphyseal dysplasia 4 multiple epiphyseal dysplasia neurocirculatory asthenia omphalocele orofaciodigital syndrome I orofaciodigital syndrome X osteoarthritis osteochondrodysplasia osteopetrosis osteoporosis osteosclerosis otosclerosis papillary adenoma placental insufficiency polyhydramnios primary hyperaldosteronism scoliosis sensorineural hearing loss spinal cord disease spondylolysis stomach cancer stomach carcinoma umbilical hernia
1800	dipeptidase 1	DPEP1	Homo sapiens (human)	Camurati-Engelmann disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease SAPHO syndrome X-linked lymphoproliferative syndrome 2 adenoma amyloidosis ankylosing spondylitis arthritis arthropathy 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 calculus bone cancer bone osteosarcoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood osteosarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy dystonia embryoma epithelioid leiomyosarcoma essential hypertension facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial hemiplegic migraine 2 familial hemiplegic migraine fibrodysplasia ossificans progressiva focal hand dystonia follicular adenoma generalized dystonia gliosarcoma heart disease hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperuricemia inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial nephritis invasive ductal carcinoma large intestine cancer laryngeal disease leiomyosarcoma lepromatous leprosy limb-girdle muscular dystrophy metachondromatosis microcystic adenoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myositis ossificans myxoid leiomyosarcoma neuroendocrine carcinoma 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 osteoarthritis osteoporosis osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma periostitis peritoneal carcinoma proliferative diabetic retinopathy prostate cancer prostate carcinoma pulmonary embolism pyelitis pyelonephritis rheumatoid arthritis rippling muscle disease 2 secondary Parkinson disease secondary hypertrophic osteoarthropathy severe nonproliferative diabetic retinopathy stone in bladder diverticulum thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tracheal disease ulcerative colitis
1798	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	DPAGT1 Aliases: ALG7 CDG-Ij D11S366 DGPT GPT GlcNAc-1-P transferase 1 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Homo sapiens (human)	Bell's palsy Ebola hemorrhagic fever Lambert-Eaton myasthenic syndrome acute intermittent porphyria agnosia alternating exotropia breast cancer cancer cataract clubfoot colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ij congenital disorder of glycosylation type I congenital disorder of glycosylation congenital myasthenic syndrome 13 congenital myasthenic syndrome congenital nystagmus congenital ptosis cutaneous leishmaniasis developmental and epileptic encephalopathy 36 developmental coordination disorder dissociated nystagmus epilepsy essential hypertension exotropia facial nerve disease facial paralysis familial periodic paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome glycoproteinosis hepatocellular carcinoma hypertension intellectual disability isolated elevated serum creatine phosphokinase levels large intestine cancer learning disability leishmaniasis liver cancer microcephaly monocular exotropia mucolipidosis II alpha/beta myopathy pathologic nystagmus pseudosarcomatous fibromatosis ptosis scoliosis spontaneous ocular nystagmus squamous cell carcinoma stomach cancer stomach carcinoma stuttering syndromic X-linked intellectual disability 94 tongue squamous cell carcinoma tuberculosis visceral leishmaniasis visual epilepsy
1743	dihydrolipoamide S-succinyltransferase	DLST Aliases: 2-oxoglutarate dehydrogenase complex component E2 Dihydrolipoyllysine-residue succinyltransferase KGD2 OGDC-E2	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 Joubert syndrome Miller-Dieker lissencephaly syndrome Pick's disease Reye syndrome Wernicke-Korsakoff syndrome adrenal gland cancer amnestic disorder aniridia cancer cerebral degeneration chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congestive heart failure cortical dysplasia-focal epilepsy syndrome duodenum cancer glomerulonephritis heart cancer hydranencephaly hypercalcemia hypertensive retinopathy kidney disease lissencephaly nephritis nephrocalcinosis neurodegenerative disease panic disorder papillary renal cell carcinoma paraganglioma pheochromocytoma phosphorus metabolism disease pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary biliary cholangitis prostate cancer prostate carcinoma proteinuria renal carcinoma renal cell carcinoma renal osteodystrophy sarcomatoid renal cell carcinoma septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly small intestine cancer syndromic X-linked intellectual disability Najm type
1738	dihydrolipoamide dehydrogenase	DLD Aliases: DLDH E3 E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex OGDC-E3	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 Friedreich ataxia Glanzmann's thrombasthenia Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome acute monocytic leukemia acute myocardial infarction adenine phosphoribosyltransferase deficiency adenocarcinoma adenoma adult fibrosarcoma alexia alternating hemiplegia of childhood amyotrophic lateral sclerosis antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative autistic disorder autonomic neuropathy bacterial sepsis benign mesothelioma brain disease brain infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy central nervous system disease cerebellar ataxia cerebellar disease cerebral degeneration cerebral infarction cerebrovascular disease childhood leukemia choriocarcinoma chromophobe renal cell carcinoma chronic monocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communication disorder congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc congenital disorder of glycosylation congestive heart failure coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma cutaneous mastocytosis dementia depressive disorder diabetes mellitus diabetic ketoacidosis diffuse cutaneous mastocytosis disease of metabolism dyslexia dysthymic disorder dystonia embryoma endomyocardial fibrosis epilepsy essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypertrophic cardiomyopathy fibrosarcoma follicular adenoma fragile X syndrome frontotemporal dementia giant cell glioblastoma glioblastoma granular cell carcinoma gray platelet syndrome hepatic coma hepatic encephalopathy hepatocellular carcinoma high grade glioma hyperglycemia hypertension hypertensive retinopathy hypertrophic cardiomyopathy hypoglycemia inflammatory bowel disease 1 inflammatory bowel disease intellectual disability intermittent claudication islet cell tumor lactic acidosis language disorder large intestine cancer learning disability leukemia leukocyte adhesion deficiency 2 leukocyte adhesion deficiency 3 leukocyte adhesion deficiency lissencephaly liver cancer liver carcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lymphoid leukemia major depressive disorder malignant mesothelioma maple syrup urine disease mastocytosis melancholic depression methemoglobinemia microcephaly microcystic adenoma monocytic leukemia multiple myeloma multiple sclerosis myeloid leukemia myocardial infarction nervous system disease neuroblastoma neurotic disorder obsolete melancholia pancreatic cancer pancreatic carcinoma papillary adenoma papillary renal cell carcinoma periodontitis peripheral vascular disease placenta cancer platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 posterior myocardial infarction primary immunodeficiency disease progressive muscular atrophy prostate cancer prostate carcinoma protein C deficiency protein S deficiency pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency qualitative platelet defect renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma schizophrenia short chain acyl-CoA dehydrogenase deficiency silent myocardial infarction stomach cancer stomach carcinoma stuttering sulfhemoglobinemia thrombophilia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urea cycle disorder urticaria pigmentosa varicose veins vascular disease viral infectious disease visual epilepsy
1737	dihydrolipoamide S-acetyltransferase	DLAT Aliases: E2 E2 component of pyruvate dehydrogenase complex PDC-E2 dihydrolipoyllysine-residue acetyltransferase	Homo sapiens (human)	Cogan syndrome Sjogren's syndrome acute myeloid leukemia adrenoleukodystrophy angioimmunoblastic T-cell lymphoma ankylosing spondylitis arteriovenous malformation autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome basal ganglia disease bile duct adenocarcinoma bile duct cancer bile duct carcinoma blepharospasm breast cancer breast carcinoma cholangiocarcinoma cholestasis congenital nystagmus congenital ptosis coronary artery disease diabetes mellitus diabetic ketoacidosis diffuse interstitial keratitis dissociated nystagmus dystonia focal hand dystonia gallbladder disease head and neck squamous cell carcinoma hepatitis A hepatitis hepatocellular carcinoma immune system disease influenza keratoconjunctivitis sicca lactic acidosis leukemia liver cancer liver cirrhosis liver disease lupus erythematosus microcephaly obsolete type 1 diabetes mellitus 9 parapsoriasis pathologic nystagmus placental insufficiency primary biliary cholangitis primary sclerosing cholangitis psoriasis psoriatic arthritis ptosis pustulosis of palm and sole pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency scleroderma sclerosing cholangitis spontaneous ocular nystagmus steatotic liver disease systemic lupus erythematosus systemic scleroderma 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 vascular disease
1727	cytochrome b5 reductase 3	CYB5R3 Aliases: B5R NADH-cytochrome b5 reductase 3	Homo sapiens (human)	acquired polycythemia alternating hemiplegia of childhood autonomic neuropathy bladder urothelial carcinoma brain disease breast cancer breast carcinoma cancer central nervous system disease colon cancer colonic benign neoplasm colorectal cancer contagious pustular dermatitis cowpox dystonia embryoma epilepsy erythema infectiosum erythropoietin polycythemia esotropia essential hypertension estrogen-receptor negative breast cancer exanthema subitum familial erythrocytosis 2 familial hyperlipidemia hypertension hypertropia idiopathic scoliosis intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia locked-in syndrome maple syrup urine disease mechanical strabismus methemoglobinemia microcephaly milker's nodule monocular esotropia movement disease nervous system disease ophthalmoplegia placental insufficiency polycythemia vera polycythemia quadriplegia sickle cell anemia smallpox strabismus stress polycythemia sulfhemoglobinemia syndromic X-linked intellectual disability 94 tarsal-carpal coalition syndrome thyroid adenoma thyroid cancer thyroid gland carcinoma variola major variola minor visual epilepsy
1718	24-dehydrocholesterol reductase	DHCR24 Aliases: Delta(24)-sterol reductase KIAA0018 seladin-1	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 Clouston syndrome Creutzfeldt-Jakob disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Joubert syndrome Laron syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Pick's disease Potter's syndrome Q fever Reye syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 achondroplasia acoustic neuroma actinic keratosis acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenocortical carcinoma adult cystic teratoma adult respiratory distress syndrome adult teratoma angiomatous meningioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthropathy atherosclerosis autism spectrum disorder autistic disorder autosomal dominant chondrodysplasia punctata autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 7 bacterial sepsis benign meningioma bilateral renal aplasia bladder carcinoma brain cancer breast cancer breast carcinoma breast fibroadenoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chondrodysplasia punctata chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma cleft palate clubfoot collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital nystagmus coronary artery disease coronary thrombosis cortical dysplasia-focal epilepsy syndrome cribriform carcinoma cutaneous mastocytosis cystic teratoma diffuse cutaneous mastocytosis disorder of sexual development dissociated nystagmus embryoma endometrial cancer endometrial carcinoma epilepsy epithelioid leiomyosarcoma epithelioid sarcoma esophageal cancer esophageal carcinoma familial adenomatous polyposis fibrous meningioma follicular adenoma giant cell glioblastoma gingival overgrowth glioblastoma gliosarcoma glucose metabolism disease granular cell carcinoma head and neck squamous cell carcinoma hepatitis C hepatocellular carcinoma hermaphroditism high grade glioma hydranencephaly hydrocephalus hypertropia inflammatory breast carcinoma insulinoma intellectual disability intraorbital meningioma intraventricular meningioma invasive ductal carcinoma islet cell tumor isolated cleft palate kidney cancer large intestine cancer learning disability leiomyoma leiomyosarcoma lipid metabolism disorder lissencephaly liver cancer lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lymphoplasmacyte-rich meningioma malignant teratoma mastocytosis mature teratoma mechanical strabismus melanoma meningioma meningothelial meningioma microcephaly microcystic adenoma microcystic meningioma migraine without aura mixed glioma multiple myeloma multiple sclerosis myocardial infarction myofibroma myxoid leiomyosarcoma nasopharynx carcinoma neuroblastoma neurodegenerative disease neurogenic arthropathy obstructive hydrocephalus olfactory groove meningioma ophthalmoplegia osteomyelitis osteopetrosis osteosclerosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parasagittal meningioma patent ductus arteriosus pathologic nystagmus pituitary adenoma placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 prostate cancer prostate carcinoma psammomatous meningioma pseudohermaphroditism rectal benign neoplasm rectum adenocarcinoma rectum cancer relapsing-remitting multiple sclerosis renal cell carcinoma rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scimitar syndrome seborrheic keratosis secretory meningioma senile degeneration of brain septooptic dysplasia serous cystadenocarcinoma short-rib thoracic dysplasia 14 with polydactyly silent myocardial infarction situs inversus skin atrophy skin disease skin melanoma spinal meningioma spindle cell sarcoma spontaneous ocular nystagmus status epilepticus strabismus syndromic X-linked intellectual disability Najm type synovitis tenosynovitis teratoma thyroid gland papillary carcinoma transient cerebral ischemia transitional cell carcinoma transitional meningioma trigeminal neuralgia trypanosomiasis tuberous sclerosis tubular adenocarcinoma typhus ureteric orifice cancer urinary bladder cancer urticaria pigmentosa uterine corpus cancer uterine fibroid vertebrobasilar insufficiency visual epilepsy

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