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 **751 - 775** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▲	Organism	Disease Ontology
51144	hydroxysteroid 17-beta dehydrogenase 12	HSD17B12 Aliases: 3-ketoacyl-CoA reductase KAR SDR12C1 short chain dehydrogenase/reductase family 12C, member 1	Homo sapiens (human)	breast cancer breast carcinoma cancer carcinoma cardiovascular system disease diabetes mellitus disease of mental health embryoma head and neck squamous cell carcinoma heart disease idiopathic scoliosis intellectual disability invasive ductal carcinoma learning disability melanoma neuroblastoma obesity ovarian cancer ovarian carcinoma prostate cancer prostate carcinoma psychotic disorder sarcomatoid carcinoma schizophrenia skin melanoma type 2 diabetes mellitus
3294	hydroxysteroid 17-beta dehydrogenase 2	HSD17B2 Aliases: HSD17 SDR9C2 short chain dehydrogenase/reductase family 9C, member 2	Homo sapiens (human)	breast cancer breast carcinoma cancer cavernous hemangioma chorioangioma colorectal cancer colorectal carcinoma dilated cardiomyopathy 1A dilated cardiomyopathy embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis glomus tumor hemangioma hepatocellular carcinoma histiocytoid hemangioma intramuscular hemangioma large intestine cancer leiomyoma liver cancer lymphangioma myofibroma nodular prostate osteoporosis ovarian cancer ovarian carcinoma polycystic ovary syndrome prostate cancer prostate carcinoma prostatic adenoma rectal benign neoplasm rectum adenocarcinoma rectum cancer sporadic breast cancer stomach cancer stomach carcinoma uterine corpus cancer uterine fibroid
3293	hydroxysteroid 17-beta dehydrogenase 3	HSD17B3 Aliases: SDR12C2 short chain dehydrogenase/reductase family 12C, member 2	Homo sapiens (human)	17-beta hydroxysteroid dehydrogenase 3 deficiency Alzheimer's disease Kallmann syndrome Sheehan syndrome acne androgen insensitivity syndrome autoimmune hepatitis cancer congenital adrenal hyperplasia congenital hypothyroidism cryptorchidism diabetes mellitus disorder of sexual development endometriosis of uterus endometriosis gynecomastia hepatitis hermaphroditism hypertrophy of breast 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 23 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 hypospadias hypothyroidism infant gynecomastia infertility 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 myxedema nicotine dependence nodular prostate obesity panhypopituitarism premature menopause prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism type 2 diabetes mellitus
3295	hydroxysteroid 17-beta dehydrogenase 4	HSD17B4 Aliases: 17-beta-HSD IV 17-beta-hydroxysteroid dehydrogenase 4 17beta-estradiol dehydrogenase type IV 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase D-3-hydroxyacyl-CoA dehydratase D-bifunctional protein, peroxisomal DBP MFE-2 SDR8C1 beta-hydroxyacyl dehydrogenase beta-keto-reductase peroxisomal multifunctional protein 2 short chain dehydrogenase/reductase family 8C, member 1	Homo sapiens (human)	Addison's disease 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 D-bifunctional protein deficiency Friedreich ataxia Laron syndrome Perrault syndrome Pick's disease Refsum disease Reye syndrome Stiff-Person syndrome Turner syndrome West syndrome Zellweger syndrome achondroplasia adrenal carcinoma adrenal cortex cancer adrenal cortical hypofunction adrenocortical carcinoma adrenoleukodystrophy alpha-methylacyl-CoA racemase deficiency androgen insensitivity syndrome beta-ketothiolase deficiency blindness breast cancer breast carcinoma cancer carnitine palmitoyltransferase I deficiency cerebellar ataxia cerebellar disease cerebral degeneration cholestasis clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital bile acid synthesis defect 4 congenital nystagmus craniosynostosis cystic kidney disease diabetic ketoacidosis dissociated nystagmus endometrial cancer endometrial carcinoma epilepsy essential hypertension gonadal dysgenesis hepatocellular carcinoma hereditary ataxia hydrocephalus hypertension hypertropia infantile Refsum disease large intestine cancer leukodystrophy lipid metabolism disorder liver cancer liver carcinoma mechanical strabismus non-congenital cyst of kidney obesity obsolete infantile epileptic encephalopathy obsolete type 1 diabetes mellitus 9 ophthalmoplegia osteoporosis pathologic nystagmus peroxisomal disease peroxisome biogenesis disorder 1A polycystic ovary syndrome polyhydramnios premature menopause primary cerebellar degeneration primary ovarian insufficiency prostate cancer prostate carcinoma rhizomelic chondrodysplasia punctata type 1 scoliosis seminoma sensorineural hearing loss spontaneous ocular nystagmus steatotic liver disease strabismus testicular cancer testicular germ cell cancer 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 uterine corpus cancer visual epilepsy
8630	hydroxysteroid 17-beta dehydrogenase 6	HSD17B6 Aliases: 3(alpha->beta)-hydroxysteroid epimerasel 3-hydroxysteroid epimerase HSE NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase RODH SDR9C6 oxidative 3-alpha-hydroxysteroid-dehydrogenase oxidoreductase retinol dehydrogenase short chain dehydrogenase/reductase family 9C, member 6	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 Coffin-Lowry syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Leber congenital amaurosis Leigh disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sjogren-Larsson syndrome autoimmune hepatitis autosomal dominant cerebellar ataxia autosomal recessive congenital ichthyosis 1 breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer cerebral degeneration chromophobe renal cell carcinoma chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy congenital adrenal hyperplasia dengue disease diabetes mellitus embryoma endometrial cancer endometrial carcinoma exocrine pancreatic insufficiency fundus albipunctatus fundus dystrophy gallbladder disease hepatitis ichthyosis keratosis follicularis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melioidosis mitochondrial metabolism disease mitochondrial myopathy mongolian spot multiple sclerosis neuroblastoma neurofibromatosis 1 neurofibromatosis nonpapillary renal cell carcinoma obsolete congenital ichthyosiform erythroderma optic atrophy papillary renal cell carcinoma paraplegia polycystic ovary syndrome prostate cancer prostate carcinoma pseudoxanthoma elasticum renal carcinoma renal cell carcinoma retinitis pigmentosa rheumatoid arthritis sarcomatoid renal cell carcinoma shigellosis spinocerebellar ataxia type 1 systemic lupus erythematosus tuberculosis type 2 diabetes mellitus uterine corpus cancer viral infectious disease yellow fever
51478	hydroxysteroid 17-beta dehydrogenase 7	HSD17B7 Aliases: PRAP SDR37C1 short chain dehydrogenase/reductase family 37C, member 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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Zellweger syndrome adenocarcinoma adenoma adrenal gland cancer androgen insensitivity syndrome basal cell carcinoma breast cancer breast carcinoma breast ductal carcinoma cancer carcinoma cerebral degeneration choriocarcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis disorder of sexual development duodenum cancer duodenum disease embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis esophageal disease follicular adenoma gallbladder cancer gallbladder carcinoma glaucoma goiter heart cancer hereditary breast ovarian cancer syndrome hermaphroditism hyperandrogenism hypogonadotropic hypogonadism 23 with or without anosmia hypospadias invasive ductal carcinoma large intestine cancer leiomyoma microcystic adenoma multiple sclerosis myofibroma nodular prostate ovarian cancer ovarian carcinoma papillary adenoma peroxisomal disease peroxisome biogenesis disorder 1A pheochromocytoma placenta cancer polycystic ovary syndrome primary immunodeficiency disease prolactinoma prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism sebaceous carcinoma small intestine cancer sporadic breast cancer steatotic liver disease steroid inherited metabolic disorder stomach cancer stomach carcinoma stomach disease sweat gland cancer thymic carcinoma thymoma thyroid gland disease type 2 diabetes mellitus uterine corpus cancer uterine fibroid
7923	hydroxysteroid 17-beta dehydrogenase 8	HSD17B8 Aliases: D6S2245E H2-KE6 HKE6 KE6 RING2 SDR30C1 short chain dehydrogenase/reductase family 30C, member 1	Homo sapiens (human)	breast cancer breast carcinoma cancer hepatitis B rheumatoid arthritis tuberculosis
3283	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	HSD3B1 Aliases: SDR11E1 short chain dehydrogenase/reductase family 11E, member 1	Homo sapiens (human)	Bartter disease Conn's syndrome Waterhouse-Friderichsen syndrome acne adenocarcinoma adenoma adrenal gland hyperfunction alopecia aortic valve insufficiency bladder carcinoma breast cancer breast carcinoma cancer carcinoma choriocarcinoma congenital adrenal hyperplasia congenital hypothyroidism diabetes mellitus diabetic ketoacidosis disorder of sexual development endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension follicular adenoma hermaphroditism hyperprolactinemia hypertension hypogonadism hypothyroidism kwashiorkor lesion of sciatic nerve marasmus microcystic adenoma myxedema nutrition disease obsolete Cushing's syndrome papillary adenoma placenta cancer polycystic ovary syndrome pre-eclampsia primary cutaneous amyloidosis primary hyperaldosteronism prostate cancer prostate carcinoma protein-energy malnutrition pseudohermaphroditism sarcomatoid carcinoma sciatic neuropathy stomach cancer stomach carcinoma trophoblastic neoplasm type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer
3284	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	HSD3B2 Aliases: SDR11E2 short chain dehydrogenase/reductase family 11E, member 2	Homo sapiens (human)	Alzheimer's disease Bartter disease Conn's syndrome Sertoli cell-only syndrome Waterhouse-Friderichsen syndrome X-linked spermatogenic failure 1 acne adrenal adenoma adrenal cortex cancer adrenal gland hyperfunction autoimmune hepatitis bipolar disorder bladder carcinoma congenital adrenal hyperplasia cryptorchidism delusional disorder depressive disorder disorder of sexual development endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension gynecomastia hepatitis hepatocellular carcinoma hermaphroditism hyperandrogenism hyperprolactinemia hypertension hypertrichosis hypertrophy of breast hypogonadotropic hypogonadism 23 with or without anosmia hypospadias infant gynecomastia lactic acidosis liver cancer major depressive disorder melancholic depression obsolete Cushing's syndrome obsolete melancholia osteoporosis paranoid schizophrenia polycystic ovary syndrome pre-eclampsia primary hyperaldosteronism prostate cancer prostate carcinoma pseudohermaphroditism urinary bladder cancer uterine corpus cancer
80270	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	HSD3B7 Aliases: C(27)-3BETA-HSD SDR11E3 short chain dehydrogenase/reductase family 11E, member 3	Homo sapiens (human)	Gilbert syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease bilirubin metabolic disorder blood coagulation disease cancer cholestasis congenital bile acid synthesis defect 1 congenital bile acid synthesis defect congenital stationary night blindness 1A congenital stationary night blindness diarrhea gallbladder disease giant cell glioblastoma glioblastoma high grade glioma intrahepatic cholestasis liver disease neuropathy night blindness obsolete inherited blood coagulation disease obsolete steatorrhea osteomalacia osteoporosis peripheral nervous system disease progressive familial intrahepatic cholestasis 1 progressive familial intrahepatic cholestasis 4 progressive familial intrahepatic cholestasis rickets tropical sprue
3339	heparan sulfate proteoglycan 2	HSPG2 Aliases: PRCAN endorepellin perlecan perlecan 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 Balkan nephropathy Bethlem myopathy Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 HELLP syndrome IgA glomerulonephritis Joubert syndrome Laron 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 Norum disease Ollier disease Peters anomaly Pick's disease Prader-Willi syndrome Reye syndrome Richter's syndrome Robinow syndrome Schwartz-Jampel syndrome 1 Seckel syndrome Silver-Russell syndrome Silverman-Handmaker type dyssegmental dysplasia Stevens-Johnson syndrome Tangier disease Werdnig-Hoffmann disease X-linked Aarskog syndrome X-linked spondyloepiphyseal dysplasia tarda abdominal obesity-metabolic syndrome 1 abetalipoproteinemia achondroplasia acute promyelocytic leukemia adenoid cystic carcinoma adenoma adrenoleukodystrophy adult fibrosarcoma adult oligodendroglioma age related macular degeneration alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis ameloblastoma amyloidosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autoimmune disease autoimmune lymphoproliferative syndrome 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 autosomal recessive osteopetrosis 7 benign mastocytoma bipolar disorder blepharophimosis blepharospasm blindness brain stem infarction breast cancer bronchus cancer bronchus carcinoma cancer carcinoma carotid artery disease cataract central nervous system cancer cerebral amyloid angiopathy cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood oligodendroglioma childhood spinal muscular atrophy cholangiocarcinoma chondrocalcinosis chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma choreaacanthocytosis chronic lymphocytic leukemia chronic myeloid leukemia cleft palate cleidocranial dysplasia clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congestive heart failure cornea plana coronary artery disease cystic fibrosis degeneration of macula and posterior pole dextro-looped transposition of the great arteries diabetes mellitus diabetic ketoacidosis disease of mental health distal myopathy embryoma enthesopathy epidermolysis bullosa epilepsy erythema multiforme esophageal cancer esophageal carcinoma exostosis extracutaneous mastocytoma facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial hypercholesterolemia familial hyperlipidemia familial nephrotic syndrome fibromyalgia fibrosarcoma focal hand dystonia follicular adenoma fragile X syndrome gallbladder cancer gallbladder carcinoma gas gangrene generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis hepatitis B hepatitis C hepatitis E hepatoblastoma hepatocellular carcinoma hereditary multiple exostoses high grade glioma humeroradial synostosis hydranencephaly hypereosinophilic syndrome hyperglycemia hypertension hypolipoproteinemia immune system disease in situ carcinoma interstitial nephritis intracranial aneurysm intrahepatic cholangiocarcinoma isolated cleft palate isolated ectopia lentis isolated elevated serum creatine phosphokinase levels juvenile spinal muscular atrophy kidney disease kidney failure large intestine cancer leech infestation limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoid nephrosis lissencephaly liver cancer liver carcinoma liver cirrhosis low compliance bladder lung cancer lung carcinoma lupus erythematosus lupus nephritis macular degeneration malignant epithelial mesothelioma malignant hyperthermia mast cell neoplasm mastocytosis melanoma membranous glomerulonephritis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcystic adenoma mixed glioma mixed oligodendroglioma-astrocytoma mucopolysaccharidosis IV multiple epiphyseal dysplasia multiple types of congenital heart defects 6 muscular dystrophy musculoskeletal system disease myiasis myopia myositis myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephritis nephrolithiasis nephrosis nephrotic syndrome type 1 nephrotic syndrome nutmeg liver 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 dextro-looped transposition of the great arteries 1 obsolete type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy oligodendroglioma osteoarthritis osteochondrodysplasia osteopetrosis osteoporosis osteosclerosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenoma papillary carcinoma periarthritis polyhydramnios pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pre-eclampsia primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma proximal symphalangism pseudosarcomatous fibromatosis psychotic disorder pyelitis pyelonephritis pyoureter radioulnar synostosis renal infectious disease salivary gland adenoid cystic carcinoma sarcomatoid carcinoma schizophrenia scleroderma scoliosis short-rib thoracic dysplasia 14 with polydactyly sick sinus syndrome skin melanoma spermatic cord torsion spinal muscular atrophy squamous cell carcinoma steatotic liver disease syndromic X-linked intellectual disability Najm type systemic lupus erythematosus systemic scleroderma tendinitis thanatophoric dysplasia thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma toxic shock syndrome toxoplasmosis tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia uric acid nephrolithiasis urticaria pigmentosa uveal melanoma
109703458	hydroxyacyl-thioester dehydratase type 2	HTD2	Homo sapiens (human)	rheumatoid arthritis
3356	5-hydroxytryptamine receptor 2A	HTR2A	Homo sapiens (human)	Alzheimer's disease alcohol dependence alcohol use disorder alcoholic psychosis anorexia nervosa autism spectrum disorder bladder neck obstruction chronic obstructive pulmonary disease cocaine abuse cocaine dependence congenital diaphragmatic hernia congestive heart failure depressive disorder hyperglycemia hypertension inflammatory and toxic neuropathy major depressive disorder nicotine dependence non-alcoholic fatty liver obesity obsessive-compulsive disorder pancreatitis pathological gambling schizophrenia steatotic liver disease withdrawal disorder
3373	hyaluronidase 1	HYAL1 Aliases: HYAL-1 LUCA1	Homo sapiens (human)	Laron syndrome achondroplasia arthritis arthropathy bladder carcinoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma embryoma endometrial cancer endometrial carcinoma gliosarcoma head and neck cancer head and neck squamous cell carcinoma high grade glioma juvenile rheumatoid arthritis large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer lung benign neoplasm lung cancer lung non-small cell carcinoma lung small cell carcinoma lysosomal storage disease mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis osteoarthritis osteochondrodysplasia ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension sarcomatoid carcinoma skin disease squamous cell carcinoma tongue squamous cell carcinoma urinary bladder cancer uterine corpus cancer
8692	hyaluronidase 2	HYAL2 Aliases: LUCA2 LuCa-2 PH-20 homolog lysosomal hyaluronidase	Homo sapiens (human)	B-cell lymphoma acute chest syndrome adenocarcinoma adenoma adult lymphoma arthritis arthropathy breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma childhood lymphoma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital heart disease cribriform carcinoma dysplastic nevus syndrome embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis gastroenteritis gliosarcoma granular cell carcinoma high grade glioma ileitis ileocolitis inflammatory bowel disease large intestine cancer lung benign neoplasm lung cancer lung carcinoma lung small cell carcinoma lymphoma melanoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis obsolete Matthew-Wood syndrome obsolete ymphosarcoma osteoarthritis primary pulmonary hypertension pulmonary hypertension reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma skin melanoma squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer
8372	hyaluronidase 3	HYAL3 Aliases: LUCA-3 LUCA14 Minna14	Homo sapiens (human)	basal cell carcinoma cancer carcinoma central nervous system cancer embryoma endometrial cancer endometrial carcinoma glaucoma gliosarcoma high grade glioma lung squamous cell carcinoma mixed glioma sarcomatoid carcinoma uterine corpus cancer
23553	hyaluronidase 4	HYAL4	Homo sapiens (human)	oxyphilic adenoma renal oncocytoma
81888	hydroxypyruvate isomerase (putative)	HYI Aliases: HT036	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 cerebral degeneration
3383	intercellular adhesion molecule 1	ICAM1 Aliases: BB2 CD54 human rhinovirus receptor	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 Balo concentric sclerosis Barrett's esophagus Behcet's disease Burkitt lymphoma Clostridium difficile colitis Crimean-Congo hemorrhagic fever Crohn's colitis Crohn's disease Down syndrome Fabry disease Fanconi anemia complementation group A Fanconi anemia Friedreich ataxia 1 Friedreich ataxia Graves ophthalmopathy Graves' disease Guillain-Barre syndrome Hallermann-Streiff syndrome Henoch-Schoenlein purpura Hirschsprung's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma IgA glomerulonephritis Japanese encephalitis Kallmann syndrome Kawasaki disease Keshan disease Kyasanur forest disease Lambert-Eaton myasthenic syndrome Langerhans-cell histiocytosis Marfan syndrome Miller Fisher syndrome Mycobacterium avium complex disease Netherton syndrome Niemann-Pick disease type B Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Prinzmetal angina Reye syndrome Richter's syndrome Riley-Day syndrome Sjogren's syndrome T-cell acute lymphoblastic leukemia T-cell childhood lymphoblastic lymphoma Werner syndrome X-linked adrenal hypoplasia congenita abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acrodermatitis acute chest syndrome acute kidney failure acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute necrotizing pancreatitis acute pancreatitis acute promyelocytic leukemia acute pyelonephritis adenocarcinoma adenoma adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome adult-onset Still's disease age related macular degeneration alcoholic hepatitis allergic asthma allergic conjunctivitis allergic disease allergic rhinitis alopecia areata alopecia anaplastic astrocytoma anemia angioedema angiosarcoma aortic valve disease 1 aortic valve insufficiency aortic valve stenosis aplastic anemia arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy ascending cholangitis aseptic meningitis asthma atherosclerosis atopic dermatitis atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis bacterial infectious disease bacterial meningitis bacterial sepsis basal cell carcinoma benign mastocytoma benign mesothelioma bicuspid aortic valve disease biliary atresia bladder carcinoma blastomycosis blind loop syndrome bone cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain edema brain infarction brain ischemia brain stem infarction breast cancer breast carcinoma bronchiectasis bronchiolitis obliterans bronchiolitis bronchitis bronchus cancer bronchus carcinoma bulbar polio bullous pemphigoid cancer capillary leak syndrome carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease cataract 5 multiple types celiac disease central nervous system cancer central nervous system disease central nervous system leukemia central nervous system lymphoma central retinal vein occlusion cerebral artery occlusion cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chancroid childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia childhood lymphoma childhood osteosarcoma childhood type dermatomyositis cholangiocarcinoma cholangitis cholera cholestasis cholesteatoma of middle ear chondrosarcoma chorioretinitis choroiditis chromophobe renal cell carcinoma chronic apical periodontitis chronic ethmoiditis chronic fatigue syndrome chronic interstitial cystitis chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chronic sphenoidal sinusitis chronic ulcer of skin chylomicron retention disease ciliary body disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common cold complex partial epilepsy congenital diaphragmatic hernia congestive heart failure corneal disease corneal neovascularization coronary artery disease coronary stenosis coronary thrombosis crescentic glomerulonephritis cribriform carcinoma cryptococcosis cryptosporidiosis cutaneous fibrous histiocytoma cutaneous mastocytosis cystic fibrosis cystinuria dacryoadenitis dacryocystitis degeneration of macula and posterior pole degenerative disc disease dementia demyelinating disease dengue disease dengue hemorrhagic fever depressive disorder dermatitis herpetiformis dermatitis dermatomyositis dermatophytosis developmental and epileptic encephalopathy 36 diabetes mellitus diabetic angiopathy diabetic cataract diabetic ketoacidosis diabetic macular edema diabetic retinopathy diffuse cutaneous mastocytosis diffuse large B-cell lymphoma dilated cardiomyopathy disease of mental health distal arthrogryposis dry eye syndrome dysplastic nevus syndrome dysthymic disorder embryoma embryonal rhabdomyosarcoma encephalitis encephalomyelitis end stage renal disease endocarditis endocrine exophthalmos endometriosis of ovary endometriosis of uterus endometriosis endometritis endomyocardial fibrosis enophthalmos eosinophilic esophagitis epilepsy esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia extracutaneous mastocytoma extramedullary plasmacytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy eye disease familial adenomatous polyposis familial hypercholesterolemia familial hypertrophic cardiomyopathy familial multiple nevi flammei familial retinoblastoma fibrillary astrocytoma fibrosarcoma fungal infectious disease galactosemia gallbladder disease gastritis gastroenteritis gastrointestinal system cancer gastroschisis gemistocytic astrocytoma gestational diabetes giant cell glioblastoma gingival fibromatosis glioblastoma gliosarcoma glomerulonephritis glucose intolerance glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease goiter granular cell carcinoma granuloma annulare heart disease hematologic cancer hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma heroin dependence herpes simplex hiatus hernia hidradenoma high grade glioma human immunodeficiency virus infectious disease hyper IgE recurrent infection syndrome 1 hypereosinophilic syndrome hyperglycemia hyperhomocysteinemia hypersensitivity vasculitis hypertension hyperthyroidism hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypogonadotropic hypogonadism 1 with or without anosmia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inclusion body myositis indolent systemic mastocytosis infective endocarditis inflammatory bowel disease 1 inflammatory bowel disease influenza intermediate coronary syndrome intermittent claudication interstitial cystitis interstitial lung disease intestinal infectious disease intestinal schistosomiasis intracranial abscess intrahepatic cholangiocarcinoma intrinsic asthma iridocyclitis iris disease islet cell tumor juvenile pilocytic astrocytoma juvenile rheumatoid arthritis keratoconjunctivitis sicca keratoconus keratopathy keratosis follicularis kidney cancer kidney disease kidney failure kwashiorkor lactic acidosis large intestine cancer leech infestation lepromatous leprosy leptospirosis lesion of sciatic nerve leukemia leukopenia leukostasis lipid storage disease liver cancer liver carcinoma liver cirrhosis liver disease localized scleroderma low compliance bladder lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphatic system disease lymphogranuloma venereum lymphoid leukemia lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macrocytic anemia macular degeneration major depressive disorder malaria malignant astrocytoma malignant mesothelioma malignant pleural mesothelioma marasmus mast cell neoplasm mastocytosis melancholic depression melanoma meningitis mesenteric vascular occlusion microcephaly middle cerebral artery infarction migraine mixed glioma mongolian spot monocytic leukemia multiple myeloma multiple sclerosis multiple system atrophy mumps mycotic corneal ulcer myelitis myelodysplastic syndrome myeloid leukemia myeloproliferative disorder with eosinophilia myiasis myocardial infarction myocarditis narcolepsy nasopharyngitis nasopharynx carcinoma necrotizing ulcerative gingivitis neovascular inflammatory vitreoretinopathy nephritis nephrosis nervous system disease neuroblastoma neurodegenerative disease neuropathy neurotic disorder newborn respiratory distress syndrome non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete T-cell lymphoblastic leukemia/lymphoma obsolete exophthalmos obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea orbital disease osteoarthritis osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis panuveitis papillary adenocarcinoma papillary renal cell carcinoma papilloma paracoccidioidomycosis parapsoriasis periapical granuloma periapical periodontitis perinatal necrotizing enterocolitis periodontitis peripheral nervous system disease peripheral vascular disease photosensitive trichothiodystrophy pilocytic astrocytoma plasma cell leukemia plasmacytoma pleurisy pneumonia poliomyelitis polycystic ovary syndrome polycythemia vera polymyalgia rheumatica post-traumatic stress disorder posterior uveitis postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome primary biliary cholangitis primary ciliary dyskinesia 1 primary ciliary dyskinesia primary cutaneous amyloidosis primary immunodeficiency disease primary pulmonary hypertension primary sclerosing cholangitis progeria proliferative diabetic retinopathy prolymphocytic leukemia prostate cancer prostate carcinoma protein-energy malnutrition proteinuria protoplasmic astrocytoma prune belly syndrome pseudoxanthoma elasticum psoriasis psychotic disorder pulmonary fibrosis pulmonary hypertension pulmonary tuberculosis pustulosis of palm and sole pyoureter rapidly progressive glomerulonephritis relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma renal hypertension renal osteodystrophy respiratory syncytial virus infectious disease reticulosarcoma retinal disease retinitis retinoblastoma retinopathy of prematurity rhabdomyosarcoma rheumatic fever rheumatic myocarditis rheumatoid arthritis rhinitis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sciatic neuropathy scleroderma sclerosing cholangitis seminoma sick sinus syndrome silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag spondylocarpotarsal synostosis syndrome squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis subependymal giant cell astrocytoma suppurative cholangitis synovitis syringoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma temporal arteritis temporal lobe epilepsy tenosynovitis testicular cancer testis seminoma thromboangiitis obliterans thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue squamous cell carcinoma toxoplasmosis transient cerebral ischemia trilateral retinoblastoma tuberculoid leprosy tuberculosis tuberculous pneumothorax tuberous sclerosis 1 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 ulcerative colitis uremia ureteral obstruction urinary bladder cancer urinary tract obstruction urticaria pigmentosa urticaria uveal melanoma uveitis varicose veins vascular dementia vascular disease vasculitis vasomotor rhinitis venous insufficiency vertebrobasilar insufficiency viral infectious disease viral meningitis visual epilepsy vitiligo xeroderma pigmentosum group D xerophthalmia yaws yellow fever
3384	intercellular adhesion molecule 2	ICAM2 Aliases: CD102	Homo sapiens (human)	Barrett's esophagus Hantavirus hemorrhagic fever with renal syndrome abdominal aortic aneurysm acquired immunodeficiency syndrome benign mesothelioma bronchus cancer bronchus carcinoma cancer embryoma esophageal cancer esophageal carcinoma human immunodeficiency virus infectious disease inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease lepromatous leprosy lung benign neoplasm lung cancer lung carcinoma malignant mesothelioma neuroblastoma pancreatic cancer pancreatic carcinoma pterygium scleroderma stomach cancer stomach carcinoma systemic scleroderma tuberculoid leprosy ulcerative colitis
7087	intercellular adhesion molecule 5	ICAM5 Aliases: TLN telencephalin	Homo sapiens (human)	adenoid cystic carcinoma breast cancer cancer chronic fatigue syndrome colorectal cancer colorectal carcinoma dermatitis embryoma encephalitis encephalomyelitis fragile X syndrome head and neck cancer hematopoietic system disease large intestine cancer multiple sclerosis myelitis parapsoriasis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole salivary gland adenoid cystic carcinoma squamous cell carcinoma systemic lupus erythematosus tongue squamous cell carcinoma
3417	isocitrate dehydrogenase (NADP(+)) 1	IDH1	Homo sapiens (human)	2-hydroxyglutaric aciduria 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 Cenani-Lenz syndactyly syndrome Chediak-Higashi syndrome Crohn's colitis Crohn's disease D-2-hydroxyglutaric aciduria Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Langerhans-cell histiocytosis Laron syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Maffucci syndrome Marfan syndrome Nijmegen breakage syndrome Ollier disease Pelger-Huet anomaly Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia achondroplasia acoustic neuroma acquired immunodeficiency syndrome acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adamantinous craniopharyngioma adenocarcinoma adenoid cystic carcinoma adenoma adrenal cortex cancer adrenal gland cancer adult acute lymphocytic leukemia adult astrocytic tumor adult fibrosarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma alpha thalassemia-X-linked intellectual disability syndrome anaplastic astrocytoma anemia angioimmunoblastic T-cell lymphoma angiokeratoma aortic valve insufficiency aromatase excess syndrome astroblastoma ataxia with oculomotor apraxia type 1 atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease benign ependymoma benign giant cell tumor bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bipolar disorder bladder urothelial carcinoma bone cancer bone marrow cancer bone osteosarcoma brain cancer brain stem glioma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cataract 4 multiple types cavernous hemangioma cellular ependymoma central nervous system cancer central nervous system lymphoma central neurocytoma cerebellar liponeurocytoma cerebral degeneration cerebral palsy cherubism childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood pilocytic astrocytoma cholangiocarcinoma cholangiolocellular carcinoma chondroblastic osteosarcoma chondroma chondrosarcoma chordoma chorioangioma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic ulcer of skin clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma connective tissue benign neoplasm cranial nerve disease cranial nerve palsy craniopharyngioma cribriform carcinoma degenerative disc disease dementia demyelinating polyneuropathy diffuse infiltrative lymphocytosis syndrome diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysplastic nevus syndrome embryoma embryonal cancer endometrial cancer endometrial carcinoma epilepsy epithelioid sarcoma esophagus squamous cell carcinoma essential thrombocythemia exanthem exostosis familial retinoblastoma fibrillary astrocytoma fibrosarcoma follicular adenoma gallbladder cancer gallbladder carcinoma ganglioglioma gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer giant cell glioblastoma glioblastoma gliomatosis cerebri gliosarcoma glomus tumor goiter granular cell carcinoma heart cancer hemangioma hematologic cancer hemiplegia hepatocellular carcinoma hepatocellular clear cell carcinoma hereditary multiple exostoses hidradenitis suppurativa hidradenitis high grade glioma histiocytoid hemangioma human immunodeficiency virus infectious disease inflammatory bowel disease 1 inflammatory bowel disease inflammatory liposarcoma intellectual disability intrahepatic cholangiocarcinoma intramuscular hemangioma invasive ductal carcinoma invasive lobular carcinoma juvenile pilocytic astrocytoma kidney cancer large intestine cancer learning disability leukemia liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma macrocytic anemia malignant astrocytoma malignant fibrous histiocytoma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma microcystic adenoma microphthalmia mixed glioma mixed oligodendroglioma-astrocytoma monocytic leukemia mononeuritis multiplex mononeuropathy multiple myeloma myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myxopapillary ependymoma nervous system cancer neurofibromatosis 1 neurofibromatosis neuropathy non-Hodgkin lymphoma nonpapillary renal cell carcinoma nontoxic goiter obsolete Matthew-Wood syndrome obsolete ymphosarcoma oligodendroglioma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary craniopharyngioma papillary ependymoma papillary renal cell carcinoma paraganglioma parathyroid adenoma parathyroid carcinoma paroxysmal nocturnal hemoglobinuria patent ductus arteriosus periarthritis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma of cerebellum pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma plasmacytoma pleomorphic xanthoastrocytoma polycythemia vera polycythemia polyneuropathy pompholyx primary immunodeficiency disease prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma psychotic disorder renal carcinoma renal cell carcinoma respiratory failure reticulosarcoma retinoblastoma rheumatic fever salivary gland adenoid cystic carcinoma sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing liposarcoma scoliosis situs inversus skin melanoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell hemangioma spindle cell sarcoma squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma subependymal giant cell astrocytoma supratentorial cancer tanycytic ependymoma tendinitis thalamic neoplasm thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis uterine corpus cancer uveal melanoma vascular cancer visual epilepsy vulvar dystrophy well-differentiated liposarcoma
3418	isocitrate dehydrogenase (NADP(+)) 2	IDH2 Aliases: IDH-2	Homo sapiens (human)	2-hydroxyglutaric aciduria 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 Burkitt lymphoma Cenani-Lenz syndactyly syndrome Chediak-Higashi syndrome D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria Duchenne muscular dystrophy Keshan disease Langerhans-cell histiocytosis Laron syndrome Maffucci syndrome Marinesco-Sjogren syndrome Ollier disease Pelger-Huet anomaly Peutz-Jeghers syndrome Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia achondroplasia acoustic neuroma acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adenocarcinoma adenoma adrenal cortex cancer adrenal gland cancer adrenoleukodystrophy adult acute lymphocytic leukemia adult astrocytic tumor adult lymphoma adult medulloblastoma adult oligodendroglioma alpha thalassemia-X-linked intellectual disability syndrome anaplastic astrocytoma anemia angioimmunoblastic T-cell lymphoma angiokeratoma aortic valve insufficiency aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative 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 benign ependymoma benign mastocytoma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer bipolar disorder bone cancer bone giant cell tumor bone marrow cancer bone osteosarcoma bone remodeling disease brain cancer brain stem glioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cavernous hemangioma cellular ependymoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebral degeneration cerebral palsy cherubism childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood astrocytic tumor childhood cerebral astrocytoma childhood leukemia childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood pilocytic astrocytoma cholangiocarcinoma chondroblastoma chondroma chondrosarcoma chorioangioma chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic ulcer of skin colitis colorectal cancer colorectal carcinoma cone-rod dystrophy congenital muscular dystrophy coronary artery disease cranial nerve disease cranial nerve palsy cribriform carcinoma degenerative disc disease demyelinating polyneuropathy diffuse infiltrative lymphocytosis syndrome diffuse large B-cell lymphoma disease of metabolism distal arthrogryposis distal myopathy duodenum cancer embryoma embryonal cancer endomyocardial fibrosis epilepsy epithelioid sarcoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exostosis extracutaneous mastocytoma facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial retinoblastoma fibrillary astrocytoma focal epilepsy fundus albipunctatus ganglioglioma gastroenteritis gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gliosarcoma glomus tumor goiter granular cell carcinoma head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hematopoietic system disease hemiplegia hepatocellular carcinoma hepatocellular clear cell carcinoma hereditary multiple exostoses hidradenitis suppurativa hidradenitis high grade glioma histiocytoid hemangioma hydronephrosis hypertension hypertrophic cardiomyopathy ileitis ileocolitis indolent systemic mastocytosis inflammatory bowel disease inflammatory breast carcinoma inflammatory liposarcoma intellectual disability intrahepatic cholangiocarcinoma intramuscular hemangioma juvenile pilocytic astrocytoma kidney failure large intestine cancer learning disability leukemia limb-girdle muscular dystrophy liver cancer liver carcinoma luminal breast carcinoma A lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma macrocytic anemia malignant astrocytoma malignant fibrous histiocytoma mast cell neoplasm mastocytosis medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma mixed glioma mixed oligodendroglioma-astrocytoma mononeuritis multiplex mononeuropathy multiple myeloma muscular dystrophy myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myofibrillar myopathy 1 myofibrillar myopathy 3 myxopapillary ependymoma narcolepsy nervous system disease neurodegenerative disease neuroendocrine carcinoma neurofibromatosis 1 neurofibromatosis neuropathy non-Hodgkin lymphoma nontoxic goiter 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 ymphosarcoma oculopharyngeal muscular dystrophy olfactory neuroblastoma oligodendroglioma osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma papillary carcinoma papillary ependymoma paraganglioma parathyroid adenoma parathyroid carcinoma partial motor epilepsy periarthritis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma plasmacytoma pleomorphic xanthoastrocytoma polycythemia vera polycythemia polyneuropathy pompholyx primary cerebellar degeneration prostate cancer prostate carcinoma protoplasmic astrocytoma pulmonary large cell neuroendocrine carcinoma reflex sympathetic dystrophy reticulosarcoma retinitis pigmentosa retinoblastoma rippling muscle disease 2 sarcoma sarcomatoid carcinoma sclerosing liposarcoma scoliosis sensorineural hearing loss skin melanoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell hemangioma spindle cell sarcoma status epilepticus steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma tanycytic ependymoma telangiectatic osteogenic sarcoma tendinitis thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma transitional cell carcinoma trilateral retinoblastoma tubular adenocarcinoma uremia urticaria pigmentosa visual epilepsy von Hippel-Lindau disease vulvar dystrophy well-differentiated liposarcoma
3419	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	IDH3A Aliases: H-IDH alpha NAD(H)-specific isocitrate dehydrogenase alpha subunit NAD+-specific ICDH isocitrate dehydrogenase (NAD+) alpha chain isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial isocitric dehydrogenase	Homo sapiens (human)	Zollinger-Ellison syndrome alternating hemiplegia of childhood arthritis arthropathy autonomic neuropathy bipolar disorder blindness brain disease cancer cataract central nervous system disease cone-rod dystrophy congenital nystagmus corneal disease diabetes mellitus dissociated nystagmus early infantile epileptic encephalopathy fundus albipunctatus glaucoma hyperinsulinism hypogonadism intellectual disability keratoconus learning disability lung adenocarcinoma lung cancer nervous system disease neuromuscular junction disease obesity obsolete asthenopia ophthalmoplegia optic atrophy osteoarthritis pathologic nystagmus primary open angle glaucoma retinitis pigmentosa 90 retinitis pigmentosa sensorineural hearing loss spontaneous ocular nystagmus type 2 diabetes mellitus
3420	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	IDH3B Aliases: RP46	Homo sapiens (human)	Zollinger-Ellison syndrome bipolar disorder blindness cataract cone-rod dystrophy congenital nystagmus corneal disease diabetes mellitus dissociated nystagmus early infantile epileptic encephalopathy eye disease fundus albipunctatus fundus dystrophy glaucoma hidradenitis suppurativa hidradenitis hyperinsulinism hypogonadism intellectual disability keratoconus learning disability obesity obsolete asthenopia ophthalmoplegia optic atrophy pathologic nystagmus pompholyx retinitis pigmentosa 46 retinitis pigmentosa sensorineural hearing loss spontaneous ocular nystagmus stomach cancer stomach carcinoma type 2 diabetes mellitus

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