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 **1101 - 1125** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▼
4706	NADH:ubiquinone oxidoreductase subunit AB1	NDUFAB1 Aliases: ACP ACP1 FASN2A SDAP acyl carrier protein, mitochondrial complex I SDAP subunit	Homo sapiens (human)	Alzheimer's disease HCL-V Lynch syndrome Marfan syndrome Richter's syndrome Wilson disease X-linked dilated cardiomyopathy actinic keratosis adamantinous craniopharyngioma adult lymphoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ataxic cerebral palsy atherosclerosis brain cancer cancer central nervous system lymphoma central retinal vein occlusion cerebral infarction cerebrovascular disease childhood lymphoma chronic lymphocytic leukemia congenital hemolytic anemia congestive heart failure coronary artery disease craniopharyngioma cystinuria dementia dental caries dentin sensitivity dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy embryoma endometrial cancer endometrial carcinoma favism galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease gonorrhea hairy cell leukemia hemochromatosis hereditary elliptocytosis iron metabolism disease lymphoma neurodegeneration with brain iron accumulation neurodegenerative disease nutmeg liver obesity obsolete ymphosarcoma osteoporosis papillary craniopharyngioma root caries situs inversus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberculosis tuberous sclerosis uterine corpus cancer
18	4-aminobutyrate aminotransferase	ABAT Aliases: 4-aminobutyrate transaminase GABA transaminase GABA-T GABAT gamma-aminobutyrate aminotransferase	Homo sapiens (human)	Alzheimer's disease GABA aminotransferase deficiency Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lennox-Gastaut syndrome Parkinsonism Pick's disease West syndrome alcohol dependence alcohol use disorder amnestic disorder anxiety disorder arthritis arthropathy autism spectrum disorder autistic disorder cancer cocaine abuse cocaine dependence depressive disorder dissociative amnesia embryoma epilepsy esophagitis essential hypertension essential thrombocythemia focal epilepsy gastroesophageal reflux disease hematologic cancer heroin dependence hypertension ischemia leukodystrophy major depressive disorder mood disorder morphine dependence myelodysplastic syndrome neurotic disorder obsolete infantile epileptic encephalopathy opiate dependence osteoarthritis partial motor epilepsy peptic esophagitis phobic disorder recurrent hypersomnia reflex epilepsy secondary Parkinson disease status epilepticus substance abuse substance-related disorder visual epilepsy
253430	inositol polyphosphate multikinase	IPMK	Homo sapiens (human)	Alzheimer's disease Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease cancer hepatitis idiopathic scoliosis inflammatory bowel disease 1 inflammatory bowel disease ovarian cancer ovarian carcinoma parapsoriasis psoriasis pustulosis of palm and sole ulcerative colitis
10715	ceramide synthase 1	CERS1 Aliases: LAG1 UOG1	Homo sapiens (human)	Alzheimer's disease Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Unverricht-Lundborg syndrome arteriosclerotic cardiovascular disease atherosclerosis blepharospasm cancer central nervous system cancer congestive heart failure coronary artery disease dementia dengue disease dentatorubral-pallidoluysian atrophy double outlet right ventricle early myoclonic encephalopathy embryoma focal hand dystonia gliosarcoma hand, foot and mouth disease head and neck squamous cell carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intellectual disability learning disability malaria mixed glioma multiple types of congenital heart defects 6 neuroblastoma papillary adenocarcinoma papillary renal cell carcinoma primary spontaneous pneumothorax progressive myoclonus epilepsy 4 progressive myoclonus epilepsy 8 progressive myoclonus epilepsy steatotic liver disease tetralogy of Fallot thyroid gland papillary carcinoma ulcerative colitis viral infectious disease visceral heterotaxy visual epilepsy yellow fever
10195	ALG3 alpha-1,3- mannosyltransferase	ALG3 Aliases: CDGS4 D16Ertd36e NOT56L Not56 carbohydrate deficient glycoprotein syndrome type IV dol-P-Man dependent alpha-1,3- mannosyltransferase dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase	Homo sapiens (human)	Alzheimer's disease Creutzfeldt-Jakob disease acute myeloid leukemia breast cancer breast carcinoma cancer celiac disease cerebral degeneration clubfoot coloboma congenital disorder of glycosylation Id congenital disorder of glycosylation If congenital disorder of glycosylation type I congenital disorder of glycosylation developmental and epileptic encephalopathy 36 diarrhea embryoma epilepsy esophagus squamous cell carcinoma head and neck squamous cell carcinoma hypertropia laryngeal squamous cell carcinoma mechanical strabismus microcephaly nonsyndromic congenital nail disorder 9 obsolete infantile epileptic encephalopathy ophthalmoplegia optic atrophy strabismus visual epilepsy
56994	choline phosphotransferase 1	CHPT1 Aliases: CPT1 phosphatidylcholine synthesizing enzyme	Homo sapiens (human)	Alzheimer's disease Cockayne syndrome Cornelia de Lange syndrome Crohn's colitis Crohn's disease Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Patau syndrome Pearson syndrome Prader-Willi syndrome Robinow syndrome Schimke immuno-osseous dysplasia Seckel syndrome Silver-Russell syndrome Weissenbacher-Zweymuller syndrome X-linked Aarskog syndrome adenocarcinoma adenoma adult medulloblastoma agranulocytosis attention deficit hyperactivity disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome beta thalassemia bladder carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma carnitine palmitoyltransferase II deficiency carpal tunnel syndrome cataract catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia central nervous system cancer central nervous system lymphoma cervical squamous cell carcinoma childhood medulloblastoma chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congestive heart failure cribriform carcinoma decubitus ulcer depressive disorder diabetes mellitus diarrhea diverticulitis dysthymic disorder embryoma endocarditis endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma essential hypertension follicular adenoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatitis C hepatitis hepatocellular carcinoma hiatus hernia high grade glioma hypertension hypoglycemia infective endocarditis inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor large intestine cancer leukopenia liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma mixed glioma multiple myeloma neuroblastoma neurotic disorder neutropenia obesity obsolete melancholia obsolete ymphosarcoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic endocrine carcinoma papillary adenoma papillary renal cell carcinoma pathological gambling placental insufficiency post-traumatic stress disorder primary pulmonary hypertension prostate cancer prostate carcinoma psychotic disorder pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinal disease rippling muscle disease 2 sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder severe congenital neutropenia sick sinus syndrome squamous cell carcinoma squamous cell neoplasm steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder systemic primary carnitine deficiency disease thalassemia thyroid gland medullary carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer varicocele very long chain acyl-CoA dehydrogenase deficiency
79947	dehydrodolichyl diphosphate synthase subunit	DHDDS Aliases: DS FLJ13102 HDS RP59 hCIT	Homo sapiens (human)	Alzheimer's disease Cockayne syndrome Cornelia de Lange syndrome Crohn's colitis Crohn's disease Dubowitz syndrome Ehrlich tumor carcinoma Laron syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Patau syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Unverricht-Lundborg syndrome Weissenbacher-Zweymuller syndrome X-linked Aarskog syndrome Zollinger-Ellison syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult medulloblastoma adult oligodendroglioma agranulocytosis amyotrophic lateral sclerosis anodontia attention deficit hyperactivity disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bladder carcinoma blepharospasm blindness bone osteosarcoma brain stem glioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carnitine palmitoyltransferase II deficiency cataract central nervous system cancer central nervous system lymphoma cerebral degeneration cervical squamous cell carcinoma childhood medulloblastoma childhood oligodendroglioma chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital diaphragmatic hernia corneal disease cribriform carcinoma cryptorchidism decubitus ulcer dementia depressive disorder developmental delay and seizures with or without movement abnormalities diarrhea dysthymic disorder dystonia early myoclonic encephalopathy embryoma endometrial cancer endometrial carcinoma epilepsy esophagus squamous cell carcinoma focal hand dystonia fundus albipunctatus giant cell glioblastoma glaucoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma hiatus hernia high grade glioma hyperinsulinism hypoglycemia hypogonadism inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor keratoconus kidney failure large intestine cancer leukopenia lingual-facial-buccal dyskinesia liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma neuroblastoma neurofibromatosis 1 neurofibromatosis neurotic disorder neutropenia obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma oligodendroglioma ophthalmoplegia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic endocrine carcinoma papillary renal cell carcinoma pathological gambling progressive muscular atrophy prostate cancer prostate carcinoma psychotic disorder pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinal degeneration retinitis pigmentosa 59 retinitis pigmentosa rippling muscle disease 2 sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder severe congenital neutropenia squamous cell carcinoma squamous cell neoplasm status epilepticus steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder thyroid gland medullary carcinoma tooth agenesis tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer varicocele visual epilepsy
3032	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	HADHB Aliases: MTPB mitochondrial trifunctional protein, beta subunit	Homo sapiens (human)	Alzheimer's disease Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Norum disease Tangier disease X-linked dilated cardiomyopathy abetalipoproteinemia adrenoleukodystrophy agenesis of the corpus callosum with peripheral neuropathy agnosia beta-ketothiolase deficiency breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease cholestasis choreaacanthocytosis clubfoot colorectal cancer colorectal carcinoma cone-rod dystrophy congestive heart failure critical illness polyneuropathy developmental coordination disorder dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy embryoma endomyocardial fibrosis epilepsy familial hyperlipidemia familial periodic paralysis fibromyalgia fundus albipunctatus heart disease hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hypercalcemia hypertrophic cardiomyopathy hypolipoproteinemia hypoparathyroidism inflammatory and toxic neuropathy intellectual disability lactic acidosis large intestine cancer learning disability lipid metabolism disorder melanoma meningoencephalitis mitochondrial metabolism disease mitochondrial trifunctional protein deficiency mitral valve insufficiency mitral valve prolapse motor peripheral neuropathy myoglobinuria myopathy myositis nephrocalcinosis neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease phosphorus metabolism disease placental insufficiency polydactyly polyneuropathy prostate adenocarcinoma prostate cancer prostate carcinoma prostatitis pseudohypoparathyroidism pseudosarcomatous fibromatosis retinitis pigmentosa sick sinus syndrome skin melanoma steatotic liver disease tricuspid valve insufficiency urea cycle disorder visual epilepsy
10558	serine palmitoyltransferase long chain base subunit 1	SPTLC1 Aliases: HSAN1 LCB1 SPTI hLCB1	Homo sapiens (human)	Alzheimer's disease Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Riley-Day syndrome acquired hyperkeratosis agenesis of the corpus callosum with peripheral neuropathy alternating hemiplegia of childhood autonomic neuropathy bipolar disorder brain cancer breast cancer cancer central nervous system cancer central nervous system disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma dementia diabetes mellitus disease of mental health embryoma frontotemporal dementia gliosarcoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy type 5 hereditary sensory neuropathy type 4 hereditary sensory neuropathy high grade glioma juvenile amyotrophic lateral sclerosis type 27 keratosis mixed glioma motor peripheral neuropathy nervous system disease neurodegenerative disease neuropathy nonpapillary renal cell carcinoma obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum papillary renal cell carcinoma peripheral nervous system disease polyneuropathy psychotic disorder renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder sensorineural hearing loss sensory peripheral neuropathy skin disease type 2 diabetes mellitus
6609	sphingomyelin phosphodiesterase 1	SMPD1 Aliases: ASM Niemann-Pick type A/B acid sphingomyelinase	Homo sapiens (human)	Alzheimer's disease Chagas disease Evans' syndrome Fabry disease Gaucher's disease Laron syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wilson disease achondroplasia acute myocardial infarction acute promyelocytic leukemia adrenal gland cancer adult fibrosarcoma adult respiratory distress syndrome aggressive systemic mastocytosis alcohol dependence alcohol use disorder alcoholic hepatitis allergic asthma alternating hemiplegia of childhood amnestic disorder antithrombin III deficiency anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autoimmune thrombocytopenic purpura autonomic neuropathy bacterial sepsis bipolar disorder botryoid rhabdomyosarcoma cancer cataract 32 multiple types central nervous system cancer central nervous system disease cerebral infarction cerebrovascular disease cholecystolithiasis choledocholithiasis cholelithiasis chronic fatigue syndrome chronic obstructive pulmonary disease chylomicron retention disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital nystagmus congestive heart failure coronary artery disease coronary thrombosis cystic fibrosis depressive disorder diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy disease of mental health disease of metabolism dissociated nystagmus duodenum cancer dysthymic disorder embryoma embryonal rhabdomyosarcoma encephalitis encephalomyelitis familial adenomatous polyposis 1 familial adenomatous polyposis fibrosarcoma gastroenteritis generalized anxiety disorder gliosarcoma head and neck squamous cell carcinoma heart cancer hemochromatosis hepatitis hepatocellular carcinoma herpes simplex high grade glioma hyperhomocysteinemia hypersplenism ileitis ileocolitis indolent systemic mastocytosis inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease intrinsic asthma iron metabolism disease islet cell tumor kwashiorkor large intestine cancer late onset Parkinson's disease lipid storage disease liver cancer liver carcinoma liver cirrhosis lung cancer lung non-small cell carcinoma lysosomal storage disease major depressive disorder marasmus mast-cell leukemia mastocytosis melancholic depression melanoma metachromatic leukodystrophy microcytic anemia mixed glioma multiple myeloma multiple sclerosis myelitis myocardial infarction nasopharynx carcinoma nervous system disease neuronal ceroid lipofuscinosis 6A neuropathy neurotic disorder newborn respiratory distress syndrome nutmeg liver nutrition disease obesity obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia osteoporosis ovarian cancer ovarian carcinoma pathologic nystagmus periodontal disease peripheral nervous system disease pheochromocytoma pneumonia prostate cancer prostate carcinoma protein C deficiency protein S deficiency protein-energy malnutrition psychotic disorder respiratory syncytial virus infectious disease retrograde amnesia rheumatoid arthritis sea-blue histiocytosis sickle cell anemia silent myocardial infarction skin melanoma small intestine cancer sphingolipidosis splenic disease splenic infarction spontaneous ocular nystagmus steatotic liver disease systemic lupus erythematosus systemic mastocytosis thrombophilia trypanosomiasis tuberculosis type 2 diabetes mellitus ulcerative colitis urinary bladder cancer viral infectious disease xanthomatosis
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
23483	TDP-glucose 4,6-dehydratase	TGDS Aliases: SDR2E1 TDPGD short chain dehydrogenase/reductase family 2E, member 1	Homo sapiens (human)	Alzheimer's disease Catel Manzke syndrome Laron syndrome Marfan syndrome achondroplasia atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect cleft lip cleft palate clubfoot cryptorchidism cystic lymphangioma dementia depressive disorder dextrocardia dysthymic disorder epilepsy hydrocephalus inguinal hernia isolated cleft palate major depressive disorder melancholic depression neurotic disorder obsolete melancholia omphalocele otitis media patent foramen ovale placental insufficiency scoliosis situs inversus temtamy preaxial brachydactyly syndrome tuberous sclerosis umbilical hernia ventricular septal defect visual epilepsy
5310	polycystin 1, transient receptor potential channel interacting	PKD1 Aliases: PBP Pc-1 TRPP1 polycystin 1 transient receptor potential cation channel, subfamily P, member 1	Homo sapiens (human)	Alzheimer's disease Caroli disease Creutzfeldt-Jakob disease Duchenne muscular dystrophy Guillain-Barre syndrome Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome Moyamoya disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Streptococcus pneumonia Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute interstitial pneumonia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia anaplastic astrocytoma angiomyolipoma arteriosclerotic cardiovascular disease atherosclerosis autoimmune pancreatitis autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease azoospermia bacterial sepsis bone disease bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer cardiomyopathy cartilage disease cavernous hemangioma central nervous system cancer childhood cerebral astrocytoma chorioangioma chronic kidney disease clear cell renal cell carcinoma collagen disease colorectal cancer colorectal carcinoma congenital heart disease congestive heart failure connective tissue disease coronary artery disease coronary thrombosis cutaneous fibrous histiocytoma cystic fibrosis cystic kidney disease dermoid cyst dextrocardia diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endomyocardial fibrosis epilepsy episodic kinesigenic dyskinesia 1 essential hypertension familial hypertrophic cardiomyopathy familial nephrotic syndrome fibrillary astrocytoma focal segmental glomerulosclerosis gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glomus tumor growth hormone secreting pituitary adenoma hemangioma hemoglobin H disease hidradenoma high grade glioma histiocytoid hemangioma hyperinsulinism hypertension hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy idiopathic interstitial pneumonia idiopathic pulmonary fibrosis influenza insulinoma intracranial aneurysm intramuscular hemangioma isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma keratosis follicularis kidney cancer kidney disease kidney failure large intestine cancer lipoid nephrosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphangioma lymphopenia malignant astrocytoma melanoma mesangial proliferative glomerulonephritis mixed glioma mongolian spot muscular dystrophy myocardial infarction nephritis nephrolithiasis nephrosis nephrotic syndrome neurofibromatosis 1 neurofibromatosis neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis non-congenital cyst of kidney nutmeg liver obesity osteosarcoma pancreatic cancer pancreatic carcinoma papilloma parapsoriasis pilocytic astrocytoma pneumonia polycystic kidney disease 1 polycystic kidney disease 2 polycystic kidney disease 3 polycystic kidney disease 4 polycystic kidney disease polycystic liver disease polycystic ovary syndrome prostate cancer prostate carcinoma protoplasmic astrocytoma pseudoxanthoma elasticum psoriasis pustulosis of palm and sole pyoureter red color blindness renal carcinoma renal cell carcinoma renovascular hypertension rheumatoid arthritis silent myocardial infarction situs inversus skin melanoma skin papilloma skin tag squamous cell papilloma stomach cancer stomach carcinoma subependymal giant cell astrocytoma syringoma thalassemia thoracic aortic aneurysm thyroid gland anaplastic carcinoma tuberous sclerosis 1 tuberous sclerosis 2 tuberous sclerosis type 2 diabetes mellitus uremia uric acid nephrolithiasis visual epilepsy
6403	selectin P	SELP Aliases: CD62 CD62P GMP140 PADGEM PSEL antigen CD62 granule membrane protein 140kDa	Homo sapiens (human)	Alzheimer's disease Burkitt lymphoma Evans' syndrome Gilbert syndrome Glanzmann's thrombasthenia Goodpasture syndrome Kawasaki disease Proteus syndrome Sjogren's syndrome St. Louis encephalitis Takayasu's arteritis Zika fever abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute chest syndrome acute myocardial infarction acute necrotizing pancreatitis age related macular degeneration agranulocytosis allergic asthma ankylosing spondylitis anti-basement membrane glomerulonephritis antiphospholipid syndrome antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis atrial fibrillation autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura bacterial sepsis beta thalassemia bilirubin metabolic disorder blood coagulation disease brain small vessel disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease carotid artery disease cerebral artery occlusion cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon carcinoma colorectal cancer common cold congenital heart disease congestive heart failure corneal dystrophy coronary artery disease coronary thrombosis cystic fibrosis degeneration of macula and posterior pole depressive disorder dermatitis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy dysthymic disorder embryoma encephalitis encephalomyelitis epithelioid sarcoma essential hypertension essential thrombocythemia familial combined hyperlipidemia familial hyperlipidemia focal segmental glomerulosclerosis gallbladder disease gastroenteritis gastrointestinal stromal tumor giant cell glioblastoma glioblastoma glomerulonephritis granulomatosis with polyangiitis gray platelet syndrome head and neck squamous cell carcinoma heart disease hematologic cancer hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypertension hypoglycemia ileitis ileocolitis immune system disease intermediate coronary syndrome intrinsic asthma juvenile rheumatoid arthritis keratosis follicularis kidney disease kidney failure kwashiorkor leukopenia liver cancer liver carcinoma liver disease lung adenocarcinoma lung cancer lung carcinoma lupus erythematosus macular degeneration major depressive disorder marasmus melancholic depression mongolian spot multiple myeloma multiple sclerosis myelitis myelofibrosis myocardial infarction myotonic dystrophy type 1 myotonic dystrophy type 2 nasopharyngitis nasopharynx carcinoma nephritis neuroblastoma neurotic disorder neutropenia nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma parapsoriasis peripheral artery disease platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 pneumonia polyarteritis nodosa portal vein thrombosis primary pulmonary hypertension proliferative diabetic retinopathy protein C deficiency protein S deficiency protein-energy malnutrition pseudoxanthoma elasticum psoriasis pulmonary embolism pustulosis of palm and sole qualitative platelet defect renal carcinoma renal cell carcinoma rheumatoid arthritis sarcoma sarcomatoid renal cell carcinoma severe congenital neutropenia sick sinus syndrome sickle cell anemia silent myocardial infarction spindle cell sarcoma systemic lupus erythematosus thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombophilia transient cerebral ischemia type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis vertebrobasilar insufficiency von Willebrand's disease 3 von Willebrand's disease
4669	N-acetyl-alpha-glucosaminidase	NAGLU Aliases: NAG Sanfilippo disease IIIB	Homo sapiens (human)	Alzheimer's disease Burkitt lymphoma Charcot-Marie-Tooth disease axonal type 2V Clouston syndrome Dent disease Fanconi syndrome Glanzmann's thrombasthenia Kluver-Bucy syndrome Legg-Calve-Perthes disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma amnestic disorder amyloidosis appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrophic gastritis autistic disorder cancer cardiovascular system disease cholera chronic kidney disease chronic pyelonephritis cone-rod dystrophy congestive heart failure coronary artery disease cribriform carcinoma cystinosis cystitis dementia dentatorubral-pallidoluysian atrophy diabetes mellitus diabetic ketoacidosis diarrhea embryoma epilepsy essential thrombocythemia focal segmental glomerulosclerosis follicular adenoma fundus albipunctatus glomerulonephritis granular cell carcinoma gray platelet syndrome heart disease hydronephrosis hypertrichosis hypertrophic cardiomyopathy 1 intellectual disability kidney disease kidney failure learning disability lipoid nephrosis liver cirrhosis lysosomal storage disease malignant pleural mesothelioma microcystic adenoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis multiple epiphyseal dysplasia multiple myeloma myelodysplastic syndrome nephritis nephrosis neuroblastoma neurodegenerative disease oculocerebrorenal syndrome oculocutaneous albinism type IA osteochondrodysplasia otitis media panic disorder papillary adenoma parapsoriasis platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 progressive familial intrahepatic cholestasis 1 progressive myoclonus epilepsy prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole pyoureter qualitative platelet defect renal osteodystrophy retinitis pigmentosa retrograde amnesia sensorineural hearing loss spondyloepimetaphyseal dysplasia, Sponastrime type stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 trigonitis tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease visual epilepsy
3251	hypoxanthine phosphoribosyltransferase 1	HPRT1 Aliases: HGPRT Lesch-Nyhan syndrome hypoxanthine guanine phosphoribosyl transferase	Homo sapiens (human)	Alzheimer's disease Borjeson-Forssman-Lehmann syndrome CD40 ligand deficiency Creutzfeldt-Jakob disease Duchenne muscular dystrophy Ewing sarcoma Fanconi anemia complementation group A Fanconi anemia Guillain-Barre syndrome HRPT-related hyperuricemia Laron syndrome Lesch-Nyhan syndrome Marfan syndrome Miller Fisher syndrome Rett syndrome Simpson-Golabi-Behmel syndrome type 1 T-cell acute lymphoblastic leukemia X-linked dilated cardiomyopathy X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 achondroplasia acoustic neuroma acquired polycythemia acute biphenotypic leukemia acute kidney failure acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute promyelocytic leukemia adult acute lymphocytic leukemia adult fibrosarcoma agnosia alternating hemiplegia of childhood anemia angiomatous meningioma arthritis arthropathy aspartylglucosaminuria ataxia telangiectasia atrophy of testis attention deficit hyperactivity disorder autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial sepsis basal ganglia disease benign meningioma blepharospasm bone disease bone marrow cancer bone marrow disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence cartilage disease central nervous system disease central nervous system lymphoma cerebral convexity meningioma cerebral palsy childhood acute lymphocytic leukemia childhood leukemia childhood type dermatomyositis choriocarcinoma chronic fatigue syndrome chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyradiculoneuropathy chronic myeloid leukemia clear cell meningioma colitis collagen disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer connective tissue disease demyelinating disease dermatomyositis developmental coordination disorder diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy dysplastic nevus syndrome dystonia embryoma encephalitis encephalomyelitis endometrial stromal sarcoma endometriosis of uterus endometriosis epilepsy epithelioid sarcoma erythropoietin polycythemia esophageal cancer esophageal carcinoma familial erythrocytosis 2 fibrosarcoma fibrous meningioma focal hand dystonia frozen shoulder fucosidosis galactosialidosis gastroenteritis giardiasis glomerulonephritis glycoproteinosis gout hematopoietic system disease hemiplegia hepatoblastoma hepatocellular carcinoma herpes simplex histiocytosis hyperglycemia hyperuricemia ileitis ileocolitis immune system disease inflammatory bowel disease inherited metabolic disorder intellectual disability intrahepatic cholestasis of pregnancy intraorbital meningioma intraventricular meningioma kidney disease kidney failure large intestine cancer learning disability leukemia leukopenia lingual-facial-buccal dyskinesia liver cancer lobular neoplasia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphoma lymphoplasmacyte-rich meningioma macrocytic anemia malaria measles megaloblastic anemia melanoma meningioma meningothelial meningioma microcystic meningioma middle cerebral artery infarction movement disease multiple sclerosis muscular dystrophy myelitis myeloproliferative neoplasm myositis neovascular inflammatory vitreoretinopathy nephritis nephrolithiasis nephrosis nervous system disease neuroblastoma non-syndromic X-linked intellectual disability obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oculocerebrorenal syndrome olfactory groove meningioma osteoarthritis osteoporosis ovarian cancer papillary adenocarcinoma papillary renal cell carcinoma parasagittal meningioma paroxysmal nocturnal hemoglobinuria pituitary adenoma placenta cancer pleomorphic adenoma polycythemia prostate cancer prostate carcinoma psammomatous meningioma purine-pyrimidine metabolic disorder pyoureter relapsing-remitting multiple sclerosis rheumatoid arthritis sarcoma scleroderma secretory meningioma situs inversus skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal cord disease spinal meningioma spindle cell sarcoma stress polycythemia syringomyelia systemic lupus erythematosus systemic scleroderma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma transitional meningioma tropical spastic paraparesis tuberculosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus uric acid nephrolithiasis uterine corpus sarcoma visual epilepsy xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
7099	toll like receptor 4	TLR4	Homo sapiens (human)	Alzheimer's disease Behcet's disease Kawasaki disease acne acute kidney failure acute necrotizing pancreatitis allergic conjunctivitis allergic contact dermatitis allergic rhinitis ankylosing spondylitis anogenital venereal wart anterior uveitis arteriosclerosis arthritis asthma atopic dermatitis brain ischemia breast cancer carotid artery disease carotid stenosis cholesteatoma of middle ear cholesteatoma chronic obstructive pulmonary disease colitis collagen disease coronary artery disease cutaneous leishmaniasis cystic echinococcosis cystic fibrosis dermatomyositis diabetes mellitus diabetic neuropathy diabetic retinopathy dry eye syndrome end stage renal disease exfoliation syndrome eye disease familial mediterranean fever glucose metabolism disease hepatocellular carcinoma hepatorenal syndrome herpes simplex virus keratitis ileitis invasive aspergillosis keratitis kidney failure liver cirrhosis low tension glaucoma lung disease macular degeneration mastitis mastoiditis melanoma meningococcal meningitis metabolic dysfunction-associated steatotic liver disease multiple sclerosis myocardial infarction obesity otitis media pancreatitis perinatal necrotizing enterocolitis pleural tuberculosis pre-eclampsia primary immunodeficiency disease primary open angle glaucoma psoriasis pulmonary emphysema pulmonary tuberculosis pulpitis renal fibrosis respiratory allergy respiratory syncytial virus infectious disease sciatic neuropathy sinusitis suppurative otitis media temporal arteritis tympanosclerosis type 1 diabetes mellitus type 2 diabetes mellitus urinary tract infection uveitis vitiligo
9370	adiponectin, C1Q and collagen domain containing	ADIPOQ	Homo sapiens (human)	Alzheimer's disease Behcet's disease Crohn's disease Graves' disease Kawasaki disease Mycobacterium avium complex disease Rett syndrome amyloidosis ankylosing spondylitis atherosclerosis autoimmune hepatitis biliary atresia bipolar disorder brain infarction breast cancer cardiomyopathy cardiovascular system disease chronic obstructive pulmonary disease colitis congestive heart failure coronary aneurysm coronary artery disease dementia diabetic retinopathy diffuse scleroderma end stage renal disease familial hyperlipidemia familial mediterranean fever gestational diabetes graft-versus-host disease hepatocellular carcinoma hyperinsulinism hyperthyroidism inflammatory bowel disease liver cirrhosis metabolic dysfunction-associated steatotic liver disease multiple sclerosis myocardial infarction obesity peripheral artery disease polycystic ovary syndrome primary open angle glaucoma proliferative diabetic retinopathy prostate adenocarcinoma pulmonary tuberculosis rheumatoid arthritis sleep apnea steatotic liver disease tongue squamous cell carcinoma type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis vascular disease
79661	nei like DNA glycosylase 1	NEIL1 Aliases: DNA endonuclease eight-like glycosylase 1 FLJ22402 FPG1 NEI1 hFPG1	Homo sapiens (human)	Alzheimer's disease Behcet's disease Chandler syndrome Fanconi anemia complementation group A Fanconi anemia Fuchs' endothelial dystrophy Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Werner syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 abdominal obesity-metabolic syndrome acquired immunodeficiency syndrome bile duct adenocarcinoma bile duct carcinoma cancer carcinoma cerebral infarction cerebrovascular disease cholangiocarcinoma chromosome 15q24 deletion syndrome colorectal cancer common variable immunodeficiency corneal disease depressive disorder diabetes mellitus distal arthrogryposis dysthymic disorder embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial hyperlipidemia gallbladder disease glucose intolerance head and neck squamous cell carcinoma hepatitis C hepatocellular carcinoma human immunodeficiency virus infectious disease hyperinsulinism intrahepatic cholangiocarcinoma keratoconus large intestine cancer liver cancer liver disease lung cancer lung non-small cell carcinoma major depressive disorder melancholic depression multiple myeloma neurotic disorder obesity obsolete melancholia prediabetes syndrome primary sclerosing cholangitis progeria sarcomatoid carcinoma sclerosing cholangitis squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma tongue squamous cell carcinoma type 2 diabetes mellitus
7124	tumor necrosis factor	TNF	Homo sapiens (human)	Alzheimer's disease Behcet's disease COVID-19 Cor pulmonale Crohn's disease Fanconi anemia Gaucher's disease Graves ophthalmopathy Graves' disease IgA glomerulonephritis Kawasaki disease Mycobacterium avium complex disease Mycoplasma pneumoniae pneumonia Plasmodium falciparum malaria Sjogren's syndrome Stevens-Johnson syndrome Vogt-Koyanagi-Harada disease Weill-Marchesani syndrome acne acquired immunodeficiency syndrome acute myocardial infarction adult respiratory distress syndrome alcoholic hepatitis amyloidosis anemia anogenital venereal wart anterior uveitis anti-basement membrane glomerulonephritis aortic valve stenosis aplastic anemia aspiration pneumonia asthma atopic dermatitis atrial fibrillation autistic disorder autoimmune hepatitis bacterial pneumonia beta thalassemia brain infarction breast adenocarcinoma breast cancer bronchiectasis bronchopulmonary dysplasia cardiac arrest cardiomyopathy cerebral infarction cervical cancer cholesteatoma of middle ear chorioamnionitis chronic obstructive pulmonary disease cicatricial pemphigoid cochlear disease congenital diaphragmatic hernia congestive heart failure corneal ulcer coronary artery disease coronary restenosis cryoglobulinemia cutaneous leishmaniasis cystic fibrosis cystitis dermatitis herpetiformis dermatitis diabetic angiopathy diabetic neuropathy diabetic retinopathy dilated cardiomyopathy 1H dilated cardiomyopathy disseminated intravascular coagulation encephalitis end stage renal disease endometriosis endophthalmitis epididymitis epilepsy erythema nodosum esophagitis extrinsic allergic alveolitis eye disease farmer's lung gastritis glaucoma heart valve disease hemochromatosis hepatitis A hepatitis B hepatocellular carcinoma hepatopulmonary syndrome hepatorenal syndrome hereditary hemorrhagic telangiectasia herpes zoster hidradenitis suppurativa high grade glioma human immunodeficiency virus infectious disease hypertension hypochromic microcytic anemia impotence inclusion body myopathy with Paget disease of bone and frontotemporal dementia inflammatory bowel disease intermediate uveitis intracranial aneurysm iron deficiency anemia keratoconjunctivitis sicca kidney disease leprosy liver cirrhosis liver disease low tension glaucoma lung disease lung non-small cell carcinoma lupus nephritis lymphopenia malaria metabolic dysfunction-associated steatohepatitis metabolic dysfunction-associated steatotic liver disease mevalonic aciduria middle cerebral artery infarction migraine without aura migraine mixed connective tissue disease mucocutaneous leishmaniasis mucopolysaccharidosis VI multiple myeloma multiple sclerosis muscular dystrophy myelodysplastic syndrome myocardial infarction myositis neutropenia obesity obstructive sleep apnea open-angle glaucoma oral squamous cell carcinoma otitis media ovarian cancer paracoccidioidomycosis peptic esophagitis perinatal necrotizing enterocolitis periodontitis peritonitis periventricular leukomalacia pleurisy portal hypertension pre-eclampsia primary biliary cholangitis primary open angle glaucoma primary sclerosing cholangitis prostate cancer psoriasis psoriatic arthritis pulmonary edema pulmonary fibrosis pulmonary hypertension pulmonary sarcoidosis pulmonary tuberculosis pustulosis of palm and sole radiculopathy renal cell carcinoma renal hypertension retinal detachment rheumatoid arthritis rhinitis root resorption schizophrenia sciatic neuropathy scleritis sensorineural hearing loss severe acute respiratory syndrome sickle cell anemia silicosis skin disease small cell carcinoma spondyloarthropathy status epilepticus systemic lupus erythematosus thalassemia thrombocytopenia toxic shock syndrome trachoma transient cerebral ischemia tuberculosis type 1 diabetes mellitus type 2 diabetes mellitus typhoid fever ulcerative colitis ureteral obstruction uveitis vascular dementia visceral leishmaniasis visual epilepsy vitiligo
1605	dystroglycan 1	DAG1 Aliases: 156DAG A3a AGRNR DAG alpha-dystroglycan beta-dystroglycan dystrophin-associated glycoprotein-1	Homo sapiens (human)	Alzheimer's disease Becker muscular dystrophy Bethlem myopathy Cockayne syndrome Cornelia de Lange syndrome Crohn's colitis Crohn's disease Dandy-Walker syndrome Dubowitz syndrome Duchenne muscular dystrophy Ebola hemorrhagic fever Fukuyama congenital muscular dystrophy Joubert syndrome Lassa fever Lyme disease Marfan syndrome Miller-Dieker lissencephaly syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Peters anomaly Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Walker-Warburg syndrome X-linked Aarskog syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult medulloblastoma agnosia allergic asthma ameloblastoma ankylosing spondylitis anterior horn cell disease arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive Robinow syndrome autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy brain cancer breast cancer breast carcinoma bronchopulmonary dysplasia buphthalmos campomelic dysplasia cancer carcinoma cardiomyopathy cataract celiac disease central nervous system cancer childhood leukemia childhood medulloblastoma childhood type dermatomyositis chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer common variable immunodeficiency communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital disorder of glycosylation congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A9 congenital muscular dystrophy congestive heart failure cornea plana coronary artery disease coronary thrombosis cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cribriform carcinoma cryptorchidism dental caries dentin caries depressive disorder dermatomyositis developmental coordination disorder diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy distal myopathy embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma essential hypertension facioscapulohumeral muscular dystrophy familial periodic paralysis focal epilepsy fundus dystrophy giant cell glioblastoma glaucoma glioblastoma gliosarcoma granular cell carcinoma heart septal defect high grade glioma hydranencephaly hydrocephalus hydrophthalmos hypertension hypertrophic cardiomyopathy immune system disease inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease intellectual disability intrinsic asthma isolated elevated serum creatine phosphokinase levels juvenile rheumatoid arthritis large intestine cancer learning disability leukemia leukodystrophy limb-girdle muscular dystrophy lissencephaly lymphocytic choriomeningitis major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microphthalmia mixed glioma muscular atrophy muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis myotonic dystrophy type 1 myotonic dystrophy type 2 neurodegenerative disease neuromuscular disease neuropathy nonpapillary renal cell carcinoma obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma parapsoriasis partial motor epilepsy peripheral nervous system disease polyneuropathy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary biliary cholangitis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole recurrent corneal erosion renal carcinoma renal cell carcinoma retinal detachment rhabdomyosarcoma rippling muscle disease 2 sarcomatoid carcinoma sarcomatoid renal cell carcinoma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly silent myocardial infarction situs inversus squamous cell carcinoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type systemic lupus erythematosus tongue cancer tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus cancer visual epilepsy
3284	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	HSD3B2 Aliases: SDR11E2 short chain dehydrogenase/reductase family 11E, member 2	Homo sapiens (human)	Alzheimer's disease Bartter disease Conn's syndrome Sertoli cell-only syndrome Waterhouse-Friderichsen syndrome X-linked spermatogenic failure 1 acne adrenal adenoma adrenal cortex cancer adrenal gland hyperfunction autoimmune hepatitis bipolar disorder bladder carcinoma congenital adrenal hyperplasia cryptorchidism delusional disorder depressive disorder disorder of sexual development endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension gynecomastia hepatitis hepatocellular carcinoma hermaphroditism hyperandrogenism hyperprolactinemia hypertension hypertrichosis hypertrophy of breast hypogonadotropic hypogonadism 23 with or without anosmia hypospadias infant gynecomastia lactic acidosis liver cancer major depressive disorder melancholic depression obsolete Cushing's syndrome obsolete melancholia osteoporosis paranoid schizophrenia polycystic ovary syndrome pre-eclampsia primary hyperaldosteronism prostate cancer prostate carcinoma pseudohermaphroditism urinary bladder cancer uterine corpus cancer
3030	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	HADHA Aliases: GBP LCEH LCHAD MTPA gastrin-binding protein long-chain 2-enoyl-CoA hydratase long-chain-3-hydroxyacyl-CoA dehydrogenase mitochondrial trifunctional protein, alpha subunit	Homo sapiens (human)	Alzheimer's disease Barth syndrome HELLP syndrome Norum disease Reye syndrome Tangier disease X-linked dilated cardiomyopathy abetalipoproteinemia acquired immunodeficiency syndrome adult respiratory distress syndrome agnosia alpha 1-antitrypsin deficiency alternating exotropia amyotrophic lateral sclerosis arthritis arthropathy blindness breast cancer bronchus cancer bronchus carcinoma cancer cardiomyopathy carnitine palmitoyltransferase II deficiency cerebral infarction cerebrovascular disease cholestasis choreaacanthocytosis clubfoot cone-rod dystrophy congenital adrenal hyperplasia congenital stationary night blindness 1A congenital stationary night blindness congestive heart failure coronary artery disease cystinuria cytochrome-c oxidase deficiency disease developmental coordination disorder diabetes mellitus dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism endomyocardial fibrosis epilepsy exotropia familial hypertrophic cardiomyopathy familial periodic paralysis fibromyalgia fundus albipunctatus 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 hemophagocytic lymphohistiocytosis hepatitis C human immunodeficiency virus infectious disease hypercalcemia hypertrophic cardiomyopathy hypoglycemia hypolipoproteinemia hypoparathyroidism inflammatory bowel disease inherited metabolic disorder intellectual disability lactic acidosis learning disability lipid metabolism disorder liver disease lung benign neoplasm lung cancer lung carcinoma metabolic dysfunction-associated steatotic liver disease mitochondrial trifunctional protein deficiency mitral valve insufficiency mitral valve prolapse monocular exotropia myoglobinuria myopathy myopia myositis nephrocalcinosis neuropathy newborn respiratory distress syndrome night blindness obesity obsolete asthenopia osteoarthritis peripheral nervous system disease phosphorus metabolism disease placental insufficiency polyneuropathy pre-eclampsia progressive muscular atrophy prostate cancer prostate carcinoma prostatitis pseudohypoparathyroidism pseudosarcomatous fibromatosis retinal disease retinitis pigmentosa retinitis sick sinus syndrome staphyloma posticum steatotic liver disease sudden infant death syndrome tricuspid valve insufficiency type 2 diabetes mellitus urea cycle disorder visual epilepsy von Willebrand's disease 2 von Willebrand's disease
1087	CEA cell adhesion molecule 7	CEACAM7 Aliases: CEA carcinoembryonic antigen gene family member 2	Homo sapiens (human)	Alzheimer's disease Barrett's esophagus Krukenberg carcinoma Lynch syndrome MHC class II deficiency Marfan syndrome Norrie disease acute lymphoblastic leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosine deaminase deficiency anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma antithrombin III deficiency benign mesothelioma bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bladder calculus bladder carcinoma breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer carcinoma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary thrombosis cribriform carcinoma cutaneous Paget's disease dementia diabetes mellitus distal arthrogryposis duodenum disease embryoma endometrial cancer endometrial carcinoma esophageal atresia/tracheoesophageal fistula esophageal atresia esophageal cancer esophageal carcinoma esophageal disease esophagus adenocarcinoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial retinoblastoma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastric cardia carcinoma gastroenteritis gastrointestinal system cancer gastrointestinal system disease giant cell glioblastoma glioblastoma goiter granular cell carcinoma head and neck cancer hematologic cancer hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intrahepatic cholangiocarcinoma islet cell tumor kidney cancer large intestine cancer liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma malignant mesothelioma melanoma microcystic adenoma microglandular adenosis microinvasive gastric cancer microphthalmia mucinous adenocarcinoma multiple sclerosis myeloproliferative disorder with eosinophilia myocardial infarction neuroendocrine carcinoma neuroendocrine tumor nontoxic goiter obsolete Matthew-Wood syndrome osteomalacia ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic endocrine carcinoma papillary adenoma papillary renal cell carcinoma papillary serous adenocarcinoma paroxysmal nonkinesigenic dyskinesia 1 periodontitis peritoneal mesothelioma peritoneal serous papillary adenocarcinoma primary sclerosing cholangitis proctitis protein C deficiency protein S deficiency pseudomyxoma peritonei pulmonary emphysema rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinoblastoma rhabdomyosarcoma rickets rosacea sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing cholangitis serous cystadenocarcinoma severe combined immunodeficiency silent myocardial infarction situs inversus skin melanoma squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma stomach disease stone in bladder diverticulum substance abuse substance-related disorder thrombophilia thyroid gland disease thyroid gland medullary carcinoma tongue squamous cell carcinoma transitional cell carcinoma trilateral retinoblastoma tuberculous peritonitis tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer urinary system benign neoplasm urinary system cancer uterine corpus cancer

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