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 **176 - 200** of **1582** in total

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Gene ID ▲	Gene Name	Gene Symbol	Organism	Disease Ontology
1604	CD55 molecule (Cromer blood group)	CD55 Aliases: CR CROM TC	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Barrett's esophagus Budd-Chiari syndrome IgA glomerulonephritis Kallmann syndrome Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Pick's disease Plasmodium vivax malaria Reye syndrome Richter's syndrome Sheehan syndrome T-cell acute lymphoblastic leukemia Weissenbacher-Zweymuller syndrome Werner syndrome acoustic neuroma acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia adenocarcinoma adenoma adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome agammaglobulinemia age related macular degeneration amphetamine abuse amyloidosis anaplastic astrocytoma anemia angiomatous meningioma aplastic anemia arthritis arthropathy atopic dermatitis atrial fibrillation autoimmune disease autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome bacterial infectious disease benign meningioma beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer carcinoma central nervous system lymphoma cerebral convexity meningioma cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood lymphoma cholangiocarcinoma cholera chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic pyelonephritis clear cell meningioma colitis colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma complement component 2 deficiency complement component 4a deficiency complement component 4b deficiency complement component 6 deficiency complement component 7 deficiency complement component 9 deficiency complement deficiency congenital hemolytic anemia cribriform carcinoma critical illness polyneuropathy deficiency anemia degeneration of macula and posterior pole dermatitis diabetes mellitus diabetic ketoacidosis diarrhea embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endometriosis of ovary endometriosis of uterus endometriosis esophagus adenocarcinoma essential thrombocythemia eunuchism familial adenomatous polyposis 1 familial adenomatous polyposis favism fetal erythroblastosis fibrillary astrocytoma fibrous meningioma follicular lymphoma gastroenteritis gastrointestinal stromal tumor gemistocytic astrocytoma granular cell carcinoma hemoglobinopathy hemolytic anemia hepatitis C hereditary elliptocytosis hereditary spherocytosis high grade glioma hypochromic anemia 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 idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis ileus immune system disease inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease influenza intestinal obstruction intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma islet cell tumor 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 lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lymphoma macrocytic anemia macroglobulinemia macular degeneration malaria malignant astrocytoma marasmus meningioma meningoencephalitis meningothelial meningioma microcystic meningioma microcytic anemia myasthenia gravis myelodysplastic syndrome myositis neuroblastoma neuromyelitis optica neuropathy non-Hodgkin lymphoma nutrition disease obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma olfactory groove meningioma ovarian cancer ovarian carcinoma panhypopituitarism parasagittal meningioma paroxysmal nocturnal hemoglobinuria peripheral nervous system disease pilocytic astrocytoma pituitary adenoma pneumonia polyneuropathy progeria prostate cancer prostate carcinoma protein-energy malnutrition protein-losing enteropathy proteinuria protoplasmic astrocytoma psammomatous meningioma pulmonary embolism pure red-cell aplasia recurrent hypersomnia reticulosarcoma rheumatoid arthritis sarcoidosis sarcomatoid carcinoma secondary hypertrophic osteoarthropathy secretory meningioma septooptic dysplasia sickle cell anemia skin squamous cell carcinoma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic primary carnitine deficiency disease thalassemia thrombosis thrombotic thrombocytopenic purpura transitional meningioma tropical sprue tuberculosis tubular adenocarcinoma type 2 diabetes mellitus type I complement component 8 deficiency type II complement component 8 deficiency ulcerative colitis uterine corpus cancer
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
1606	diacylglycerol kinase alpha	DGKA Aliases: DGK-alpha	Homo sapiens (human)	acute myocardial infarction adult respiratory distress syndrome aggressive periodontitis breast cancer breast carcinoma cancer childhood leukemia coronary thrombosis embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma giant cell glioblastoma glioblastoma glucose metabolism disease high grade glioma leukemia lung adenocarcinoma lung cancer lung disease melanoma myocardial infarction pancreatic cancer pancreatic carcinoma periodontosis silent myocardial infarction skin melanoma squamous cell carcinoma tongue squamous cell carcinoma uterine corpus cancer
1607	diacylglycerol kinase beta	DGKB Aliases: DGK DGK-BETA KIAA0718	Homo sapiens (human)	allergic asthma asthma atrial fibrillation bipolar disorder cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma glucose metabolism disease idiopathic scoliosis intrinsic asthma large intestine cancer major depressive disorder melancholic depression mitochondrial DNA depletion syndrome neurotic disorder obsolete melancholia type 2 diabetes mellitus
1608	diacylglycerol kinase gamma	DGKG	Homo sapiens (human)	allergic asthma angioedema asthma breast cancer cancer colorectal cancer colorectal carcinoma depressive disorder eye disease glucose metabolism disease hepatocellular carcinoma intrinsic asthma large intestine cancer liver cancer major depressive disorder melancholic depression mood disorder neurotic disorder nicotine dependence obesity obsolete melancholia optic atrophy 1 optic atrophy skin disease urticaria
1609	diacylglycerol kinase theta	DGKQ Aliases: DAGK DAGK7	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome Sjogren's syndrome cerebral degeneration diabetes mellitus diabetic ketoacidosis hepatocellular carcinoma keratoconjunctivitis sicca liver cancer myositis primary biliary cholangitis rheumatoid arthritis scleroderma systemic lupus erythematosus systemic scleroderma type 2 diabetes mellitus
1629	dihydrolipoamide branched chain transacylase E2	DBT Aliases: BCKAD-E2 BCKDH-E2 BCOADC-E2 branched chain 2-oxo-acid dehydrogenase complex component E2 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial	Homo sapiens (human)	acute pancreatitis autoimmune hepatitis borderline personality disorder brain edema breast cancer breast carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer dilated cardiomyopathy 1A dilated cardiomyopathy dystonia eating disorder embryoma epilepsy focal hand dystonia generalized dystonia giant cell glioblastoma glioblastoma gliosarcoma heart disease high grade glioma hypoglycemia intellectual disability intermittent explosive disorder lactic acidosis learning disability maple syrup urine disease melanoma mixed glioma pancreatitis post-traumatic stress disorder primary biliary cholangitis skin melanoma substance abuse substance-related disorder syndromic X-linked intellectual disability 94 visual epilepsy
1632	enoyl-CoA delta isomerase 1	ECI1 Aliases: 3,2 trans-enoyl-CoA isomerase	Homo sapiens (human)	achalasia carcinoma congenital diaphragmatic hernia dilated cardiomyopathy 1A dilated cardiomyopathy esophagitis gastroesophageal reflux disease hiatus hernia megaesophagus peptic esophagitis
1634	decorin	DCN Aliases: DSPG2 SLRR1B decorin proteoglycan	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 CADASIL 1 CADASIL Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease IgA glomerulonephritis Kaposi's sarcoma Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Lyme disease Marfan 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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peyronie's disease Pick's disease Prader-Willi syndrome Reye syndrome Richter's syndrome Robinow syndrome Rothmund-Thomson syndrome SADDAN Seckel syndrome Silver-Russell syndrome Werner syndrome X-linked Aarskog syndrome abdominal aortic aneurysm achondrogenesis type IB achondroplasia actinic keratosis acute interstitial pneumonia acute myocardial infarction adult respiratory distress syndrome allergic asthma alopecia amyloidosis angiokeratoma angiosarcoma angle-closure glaucoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrophic gastritis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal 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 dominant polycystic kidney disease autosomal recessive Robinow syndrome autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB 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 balanitis xerotica obliterans basal cell carcinoma benign breast phyllodes tumor bladder carcinoma bladder neck obstruction bone disease bone giant cell tumor bone osteosarcoma brain cancer breast cancer breast carcinoma breast fibroadenoma breast fibrocystic disease breast malignant phyllodes tumor breast metaplastic carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cartilage disease central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cherubism childhood angiosarcoma childhood osteosarcoma cholestasis chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic interstitial cystitis chronic lymphocytic leukemia chronic obstructive pulmonary disease chronic ulcer of skin clear cell renal cell carcinoma collagen disease collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital disorder of glycosylation congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy congenital stromal corneal dystrophy congestive heart failure connective tissue disease cornea plana corneal neovascularization coronary artery disease coronary thrombosis crescentic glomerulonephritis cutis laxa cystic fibrosis diabetes mellitus diabetic ketoacidosis distal myopathy embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa dystrophica epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exostosis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial adenomatous polyposis familial periodic paralysis female stress incontinence gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance heart disease hepatocellular carcinoma hiatus hernia high grade glioma hyperglycemia hypertension hypertrophic cardiomyopathy hypochondroplasia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inclusion body myositis intellectual disability interstitial cystitis interstitial nephritis intestinal benign neoplasm intestinal cancer intrinsic asthma invasive ductal carcinoma kidney disease kidney failure kidney hypertrophy large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer learning disability limb-girdle muscular dystrophy lipoma liver cancer liver carcinoma liver cirrhosis localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma mal de Meleda malignant peripheral nerve sheath tumor mesangial proliferative glomerulonephritis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microglandular adenosis mixed glioma multiple myeloma multiple sclerosis multiple symmetric lipomatosis muscular dystrophy myeloproliferative disorder with eosinophilia myocardial infarction myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myxofibrosarcoma neovascular inflammatory vitreoretinopathy nephritis nephrosclerosis nephrosis neurilemmoma neuroblastoma neurofibrosarcoma neurogenic arthropathy newborn respiratory distress syndrome 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 type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy ossification of the posterior longitudinal ligament of spine osteoarthritis osteochondrodysplasia osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma papilloma periarthritis placental insufficiency pleomorphic lipoma polycystic kidney disease 1 polycystic ovary syndrome posterior amorphous corneal dystrophy postinflammatory pulmonary fibrosis prediabetes syndrome primary angle-closure glaucoma primary open angle glaucoma primary pulmonary hypertension progeria prostate cancer prostate carcinoma proteinuria pseudoachondroplasia pseudosarcomatous fibromatosis pulmonary fibrosis pulmonary hypertension pyelitis pyelonephritis pyoureter rapidly progressive glomerulonephritis recessive dystrophic epidermolysis bullosa renal carcinoma renal cell carcinoma renal infectious disease restrictive dermopathy retinal disease retinitis rippling muscle disease 2 sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma seborrheic keratosis silent myocardial infarction situs inversus skin atrophy skin disease spindle cell sarcoma squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma systemic scleroderma tendinitis thrombosis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tracheal disease transitional cell carcinoma 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 type 2 diabetes mellitus uremia urinary bladder cancer uterine corpus cancer vascular cancer vascular disease vulva carcinoma vulvar dystrophy
1635	dCMP deaminase	DCTD	Homo sapiens (human)	breast cancer cancer esophagus squamous cell carcinoma gliosarcoma high grade glioma leukopenia mixed glioma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma
1636	angiotensin I converting enzyme	ACE Aliases: ACE1 CD143 peptidyl-dipeptidase A	Homo sapiens (human)	Alport syndrome 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 Balo concentric sclerosis Bannayan-Riley-Ruvalcaba syndrome Becker muscular dystrophy Behcet's disease Burkitt lymphoma CAKUT COVID-19 Chagas 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 Clostridium difficile colitis Coronavirus infectious disease Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Fabry disease Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III Gaucher's disease Goodpasture syndrome Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Henoch-Schoenlein purpura Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Kawasaki disease Keshan disease Kuhnt-Junius degeneration Langerhans-cell histiocytosis Leber hereditary optic neuropathy Lewy body dementia Marfan syndrome Meckel syndrome 8 Meckel syndrome Mycoplasma pneumoniae pneumonia Netherton syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Potter's syndrome Prinzmetal angina Raynaud disease Reye syndrome Richter's syndrome Senior-Loken syndrome Sjogren's syndrome St. Louis encephalitis T-cell acute lymphoblastic leukemia Takayasu's arteritis Werner syndrome Wilson disease X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 ablepharon macrostomia syndrome acne acquired immunodeficiency syndrome acrodermatitis acromegaly actinic keratosis acute biphenotypic leukemia acute chest syndrome acute kidney failure acute leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute pyelonephritis adenocarcinoma adenoma adrenal gland cancer adrenal gland hyperfunction adrenoleukodystrophy adult fibrosarcoma adult lymphoma adult respiratory distress syndrome age related macular degeneration agenesis of the corpus callosum with peripheral neuropathy agnosia agoraphobia agranulocytosis alcohol dependence alcohol use disorder alcoholic cardiomyopathy alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic contact dermatitis allergic disease allergic rhinitis alopecia areata alopecia alpha 1-antitrypsin deficiency alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis anemia angioedema angioma serpiginosum ankylosing spondylitis anterolateral myocardial infarction anteroseptal myocardial infarction anthracosilicosis antisocial personality disorder antithrombin III deficiency anuria anxiety disorder aortic aneurysm aortic atherosclerosis aortic valve disease 1 aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asbestosis aseptic meningitis aspiration pneumonia aspiration pneumonitis asthma atherosclerosis atrial fibrillation atrioventricular block atrioventricular septal defect autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autonomic neuropathy 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 dominant polycystic kidney disease autosomal recessive congenital ichthyosis 1 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 autosomal recessive polycystic kidney disease background diabetic retinopathy bacterial infectious disease bacterial sepsis basal cell carcinoma berylliosis bestrophinopathy bicuspid aortic valve disease bile duct adenocarcinoma bile duct carcinoma bipolar disorder bone cancer bone disease bone marrow cancer borderline personality disorder brain disease brain infarction brain ischemia brain stem infarction breast cancer breast carcinoma breast fibrocystic disease bronchiolitis obliterans bronchus cancer bronchus carcinoma burning mouth syndrome campomelic dysplasia cancer cannabis abuse cannabis dependence capillary disease capillary hemangioma carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease carotid artery thrombosis carotid stenosis carpal tunnel syndrome cartilage disease cataract 32 multiple types 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 cavernous hemangioma celiac disease central gyrate choroidal dystrophy central nervous system cancer central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral atherosclerosis cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood leukemia childhood lymphoma childhood type dermatomyositis cholangiocarcinoma cholera cholestasis chondrocalcinosis chorioretinitis choroiditis chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease ciliary body disease clear cell renal cell carcinoma colitis collagen disease collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement component 2 deficiency complement component 4a deficiency complement component 4b deficiency complement component 6 deficiency complement component 7 deficiency complement component 9 deficiency complement deficiency complex partial epilepsy cone-rod dystrophy congenital central hypoventilation syndrome congenital diaphragmatic hernia congenital heart disease congenital hypothyroidism congenital muscular dystrophy congenital nongoitrous hypothyroidism 4 congestive heart failure connective tissue disease coronary aneurysm coronary artery disease coronary artery vasospasm coronary restenosis coronary stenosis coronary thrombosis craniometaphyseal dysplasia crescentic glomerulonephritis cribriform carcinoma critical illness polyneuropathy cystic fibrosis cystoid macular edema degeneration of macula and posterior pole dementia dental caries dentin caries depressive disorder dermatitis dermatomyositis diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diastolic heart failure diastrophic dysplasia 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 disease of mental health disease of metabolism distal myopathy drug psychosis dry eye syndrome duodenum cancer dyschromatosis symmetrica hereditaria dysgerminoma of ovary dysthymic disorder eclampsia embryoma embryonal cancer encephalitis encephalomyelitis end stage renal disease endocarditis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis enterocele epilepsy episodic kinesigenic dyskinesia 1 esophageal cancer esophageal carcinoma esophagitis essential hypertension essential thrombocythemia extrinsic allergic alveolitis exudative vitreoretinopathy 1 exudative vitreoretinopathy facioscapulohumeral muscular dystrophy familial combined hyperlipidemia familial hypercholesterolemia familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial nephrotic syndrome familial periodic paralysis fibromyalgia fibrosarcoma focal segmental glomerulosclerosis 1 focal segmental glomerulosclerosis 2 focal segmental glomerulosclerosis 5 focal segmental glomerulosclerosis 6 focal segmental glomerulosclerosis 7 focal segmental glomerulosclerosis 8 focal segmental glomerulosclerosis 9 focal segmental glomerulosclerosis follicular adenoma frontotemporal dementia fundus albipunctatus gallbladder adenocarcinoma gallbladder cancer gallbladder carcinoma gallbladder disease gastric ulcer gastritis gastroenteritis gastroesophageal reflux disease gastrointestinal system cancer gastrointestinal system disease generalized anxiety disorder generalized atherosclerosis germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glomerulosclerosis glucose intolerance glycogen storage disease II glycogen storage disease V granular cell carcinoma granular corneal dystrophy 2 granulomatosis with polyangiitis heart cancer heart disease heart valve disease hematologic cancer hemochromatosis hemopericardium hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hereditary angioedema hereditary hemorrhagic telangiectasia hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hereditary spherocytosis type 1 hereditary spherocytosis hiatus hernia high grade glioma human immunodeficiency virus infectious disease hydronephrosis hyperandrogenism hypercalcemia hyperglycemia hyperhomocysteinemia hyperinsulinism hyperparathyroidism hyperpituitarism hypersensitivity vasculitis hypertension hypertensive heart disease hyperthyroidism hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypoplastic left heart syndrome hypothyroidism ichthyosis idiopathic interstitial pneumonia idiopathic pulmonary fibrosis idiopathic scoliosis ileitis ileocolitis immune system disease impotence inappropriate ADH syndrome infective endocarditis inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory myofibroblastic tumor intermediate coronary syndrome intermittent claudication intermittent explosive disorder interstitial lung disease interstitial nephritis intestinal disease intracranial aneurysm intracranial arteriosclerosis intrahepatic cholangiocarcinoma intrahepatic cholestasis of pregnancy intrinsic asthma iris disease iron metabolism disease irritable bowel syndrome keratoconjunctivitis sicca keratosis follicularis kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer left bundle branch hemiblock leiomyoma leukemia leukostasis limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphangioleiomyomatosis lymphoma lymphopenia macrocytic anemia macular degeneration macular retinal edema major depressive disorder malaria male infertility malignant hypertension marasmus megacystis-microcolon-intestinal hypoperistalsis syndrome melancholic depression melanoma membranous glomerulonephritis meningoencephalitis mevalonic aciduria microcephaly microcystic adenoma microglandular adenosis microinvasive gastric cancer microphthalmia middle cerebral artery infarction migraine with aura migraine without aura migraine mitral valve disease mitral valve insufficiency mitral valve prolapse mitral valve stenosis mixed glioma mixed sleep apnea mongolian spot mood disorder morbid obesity motor peripheral neuropathy multiple endocrine neoplasia type 2A multiple myeloma multiple sclerosis multiple system atrophy muscular dystrophy musculoskeletal system disease myelitis myelodysplastic syndrome myelofibrosis myeloproliferative neoplasm myocardial infarction myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma myopathy myositis myotonic dystrophy type 1 myotonic dystrophy type 2 myxedema narcolepsy nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephritis nephrocalcinosis nephronophthisis 1 nephronophthisis nephrosclerosis nephrosis nephrotic syndrome type 1 nephrotic syndrome type 2 nephrotic syndrome nervous system disease neurocirculatory asthenia neurodegenerative disease neuromuscular disease neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nicotine dependence nodular prostate non-Hodgkin lymphoma non-arteritic anterior ischemic optic neuropathy nonpapillary renal cell carcinoma normal pressure hydrocephalus nutmeg liver nutrition disease nutritional optic neuropathy obesity obsolete Cushing's syndrome 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 chronobiology disease obsolete congenital ichthyosiform erythroderma obsolete constipation obsolete eye and adnexa disease obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea ocular hypotension oculopharyngeal muscular dystrophy oligohydramnios open-angle glaucoma osteitis fibrosa osteoarthritis osteomalacia osteonecrosis osteoporosis otosclerosis ovarian cancer ovarian carcinoma pancreas disease pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic ductal carcinoma pancreatitis panic disorder panuveitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis patent ductus arteriosus pemphigus vulgaris pemphigus peptic esophagitis peptic ulcer disease pericardial effusion perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral artery disease peripheral nervous system disease peripheral vascular disease periventricular leukomalacia personality disorder pheochromocytoma phobic disorder phosphorus metabolism disease placental insufficiency plasmacytoma pneumonia polyarteritis nodosa polycystic kidney disease 1 polycystic kidney disease 4 polycystic ovary syndrome polycythemia vera polycythemia polyneuropathy portal hypertension post-traumatic stress disorder posterior uveitis postinflammatory pulmonary fibrosis postural orthostatic tachycardia syndrome pre-eclampsia pre-malignant neoplasm prediabetes syndrome premature ejaculation primary biliary cholangitis primary hyperaldosteronism primary hyperparathyroidism primary open angle glaucoma primary ovarian insufficiency primary polycythemia primary pulmonary hypertension progeria progressive muscular atrophy progressive supranuclear palsy proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma protein C deficiency protein S deficiency protein-energy malnutrition proteinuria pseudoxanthoma elasticum psoriasis psoriatic arthritis psychologic dyspareunia psychotic disorder pterygium pulmonary edema pulmonary embolism pulmonary emphysema pulmonary fibrosis pulmonary hypertension pulmonary sarcoidosis pulmonary tuberculosis pustulosis of palm and sole pyelitis pyelonephritis pyoureter pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rapidly progressive glomerulonephritis rectal benign neoplasm rectum adenocarcinoma rectum cancer red-green color blindness reflex sympathetic dystrophy renal artery disease renal artery obstruction renal carcinoma renal cell carcinoma renal fibrosis renal hypertension renal infectious disease renal osteodystrophy renovascular hypertension respiratory syncytial virus infectious disease restrictive cardiomyopathy 1 restrictive cardiomyopathy reticulosarcoma retinal disease retinal vein occlusion retinitis pigmentosa retinitis retinopathy of prematurity rheumatoid arthritis rhinitis rickets rippling muscle disease 2 sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleritis scleroderma seasonal affective disorder seborrheic keratosis seminoma sensorineural hearing loss severe acute respiratory syndrome severe congenital neutropenia sexual dysfunction sick sinus syndrome sickle cell anemia silent myocardial infarction silicosis situs inversus skin atrophy skin benign neoplasm skin cancer skin disease skin melanoma sleep apnea small intestine cancer somatization disorder somatoform disorder speech-language disorder-1 spondyloarthropathy spondylosis squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis subacute sclerosing panencephalitis substance abuse substance-related disorder synovial sarcoma systemic lupus erythematosus systemic scleroderma systolic heart failure telangiectasis temporal lobe epilepsy testicular cancer testicular germ cell cancer testis seminoma tetralogy of Fallot thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma toxic shock syndrome transient cerebral ischemia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tropical sprue trypanosomiasis tuberculosis tuberculous pneumothorax tuberous sclerosis 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 type I complement component 8 deficiency type II complement component 8 deficiency ulcerative colitis uremia ureteral obstruction urinary system benign neoplasm urinary system cancer urinary tract obstruction urticaria uterine corpus cancer uterine fibroid uveitis uveoparotid fever vascular dementia vascular disease vasculitis vasomotor rhinitis vertebrobasilar insufficiency vesicoureteral reflux viral infectious disease viral meningitis viral pneumonia visual epilepsy vitiligo xerophthalmia
1645	aldo-keto reductase family 1 member C1	AKR1C1 Aliases: DD1 DDH HAKRC MBAB dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase	Homo sapiens (human)	B-cell lymphoma Langerhans-cell histiocytosis Marfan syndrome T-cell acute lymphoblastic leukemia X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta anxiety disorder arthritis arthropathy benign mesothelioma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cervical cancer childhood germ cell cancer childhood osteosarcoma clear cell adenocarcinoma clubfoot colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma common wart dentin dysplasia dentinogenesis imperfecta disorder of sexual development embryoma embryonal cancer endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis esophagus squamous cell carcinoma gallbladder disease generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma head and neck squamous cell carcinoma hepatocellular carcinoma hermaphroditism large intestine cancer liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoma malignant mesothelioma non-Hodgkin lymphoma obesity obsolete ymphosarcoma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma panic disorder parapsoriasis phobic disorder polycystic ovary syndrome prostate cancer prostate carcinoma pseudohermaphroditism psoriasis pustulosis of palm and sole reticulosarcoma situs inversus squamous cell carcinoma tongue squamous cell carcinoma tuberous sclerosis urinary bladder cancer uterine corpus cancer
1646	aldo-keto reductase family 1 member C2	AKR1C2 Aliases: BABP DD DD2 HAKRD MCDR2 dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III	Homo sapiens (human)	46,XY sex reversal 8 46,XY sex reversal 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 Barrett's esophagus Pick's disease Reye syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 adenocarcinoma adenoma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta arthritis arthropathy benign mesothelioma breast cancer breast carcinoma cancer cerebral degeneration contact dermatitis cribriform carcinoma cryptorchidism dentin dysplasia dentinogenesis imperfecta depressive disorder diabetes mellitus diabetic ketoacidosis disorder of sexual development dysthymic disorder embryoma endometriosis of ovary endometriosis of uterus endometriosis esophagus adenocarcinoma esophagus squamous cell carcinoma granular cell carcinoma hepatocellular carcinoma hermaphroditism hypogonadotropic hypogonadism 23 with or without anosmia liver cancer liver carcinoma lung adenocarcinoma lung cancer lung non-small cell carcinoma lung squamous cell carcinoma major depressive disorder malignant mesothelioma melancholic depression neurotic disorder obesity obsolete melancholia occupational dermatitis osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma polycystic ovary syndrome primary cutaneous amyloidosis prostate cancer prostate carcinoma pseudohermaphroditism squamous cell carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine disease
1650	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	DDOST Aliases: KIAA0115 OST OST48 WBP1 advanced glycation end-product receptor 1 oligosaccharyltransferase subunit 48	Homo sapiens (human)	Japanese encephalitis Laron syndrome achondroplasia animal phobia blood coagulation disease bone osteosarcoma bronchus cancer bronchus carcinoma cancer childhood osteosarcoma chronic kidney disease congenital disorder of glycosylation Ir congenital disorder of glycosylation type I congenital disorder of glycosylation congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 dengue disease diabetes mellitus diabetic ketoacidosis epilepsy esophagitis esotropia gastroesophageal reflux disease glomerulonephritis glucose intolerance hepatitis C hypertropia hypogonadism hypogonadotropic hypogonadism 7 with or without anosmia influenza kidney disease lipoatrophic diabetes mellitus lipodystrophy liver cirrhosis lung benign neoplasm lung cancer lung carcinoma mechanical strabismus monocular esotropia nephritis nephrosis obsolete constipation obsolete inherited blood coagulation disease obsolete type 1 diabetes mellitus 9 ophthalmoplegia osteoporosis osteosarcoma peptic esophagitis periodontitis prediabetes syndrome prostate cancer prostate carcinoma pyoureter retinal disease retinitis sleeping sickness specific phobia speech disorder steatotic liver disease strabismus trypanosomiasis 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 viral infectious disease visual epilepsy yellow fever
1717	7-dehydrocholesterol reductase	DHCR7	Homo sapiens (human)	3-methylglutaconic aciduria Behcet's disease Dandy-Walker syndrome Hailey-Hailey disease Laron syndrome Marfan syndrome Meckel syndrome Potter's syndrome Rapp-Hodgkin syndrome Rothmund-Thomson syndrome Smith-Lemli-Opitz syndrome X-linked ichthyosis achondroplasia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome arteriosclerotic cardiovascular disease atherosclerosis atrioventricular septal defect autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant polycystic kidney disease 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 bilateral optic nerve hypoplasia bilateral renal aplasia cardiovascular system disease choanal atresia coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc coronary artery disease cutis laxa dermatitis diabetes mellitus diabetic ketoacidosis fissured tongue glaucoma glycoproteinosis heart disease hepatitis C hepatocellular carcinoma hydrocephalus hypohidrotic ectodermal dysplasia hypospadias immune system disease intellectual disability interstitial nephritis large intestine cancer learning disability leukocyte adhesion deficiency 2 leukocyte adhesion deficiency lingual-facial-buccal dyskinesia liver cancer liver cirrhosis mal de Meleda microcephaly movement disease multiple sclerosis nutmeg liver obsolete type 1 diabetes mellitus 9 oligohydramnios osteomalacia periventricular nodular heterotopia photosensitive epilepsy photosensitivity disease placental insufficiency polycystic ovary syndrome polydactyly polyhydramnios pyelitis pyelonephritis restrictive dermopathy rheumatoid arthritis rickets scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability type 10 tongue disease 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 type 2 diabetes mellitus ventricular septal defect
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
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
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
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
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
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
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
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
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
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

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