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 **1476 - 1500** of **1582** in total

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Gene ID	Gene Name ▲	Gene Symbol	Organism	Disease Ontology
259230	sphingomyelin synthase 1	SGMS1 Aliases: MGC17342 MOB SMS1 phosphatidylcholine:ceramide cholinephosphotransferase 1	Homo sapiens (human)	St. Louis encephalitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bronchus cancer bronchus carcinoma cancer central nervous system cancer cholangiocarcinoma colorectal cancer colorectal carcinoma diabetes mellitus embryoma giant cell glioblastoma glioblastoma gliosarcoma hepatitis A hepatitis high grade glioma intrahepatic cholangiocarcinoma large intestine cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus melanoma mixed glioma pancreatic cancer pancreatic carcinoma pulmonary edema skin melanoma systemic lupus erythematosus type 2 diabetes mellitus
166929	sphingomyelin synthase 2	SGMS2 Aliases: MGC26963 SMS2	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 arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bacterial sepsis bone osteosarcoma breast cancer breast carcinoma calvarial doughnut lesions with bone fragility cancer central nervous system cancer cerebral degeneration colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease dental caries dentin caries depressive disorder dysthymic disorder embryoma gastroenteritis gliosarcoma high grade glioma ileitis ileocolitis large intestine cancer major depressive disorder melancholic depression mixed glioma neurotic disorder obesity obsolete melancholia osteoporosis osteosarcoma pulmonary emphysema scoliosis steatotic liver disease
8877	sphingosine kinase 1	SPHK1 Aliases: SPHK	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 Clouston syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Pick's disease Reye syndrome Sjogren's syndrome acute myeloid leukemia adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adrenoleukodystrophy anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bacterial sepsis benign mesothelioma bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardia cancer cardiomyopathy central nervous system cancer cerebral degeneration cervical cancer cervix carcinoma cholangiocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease dengue disease diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma distal arthrogryposis embryoma encephalitis encephalomyelitis endocrine exophthalmos esophagus squamous cell carcinoma essential hypertension follicular adenoma gallbladder cancer gallbladder carcinoma gastroenteritis generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis hepatitis B hepatitis hepatocellular carcinoma high grade glioma hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma keratoconjunctivitis sicca kidney cancer kidney disease kwashiorkor large intestine cancer liver cancer liver carcinoma liver cirrhosis lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia malaria malignant mesothelioma malignant pleural mesothelioma marasmus microcystic adenoma mixed glioma multiple myeloma multiple sclerosis myelitis myelodysplastic syndrome nasopharynx carcinoma nephritis nonpapillary renal cell carcinoma nutrition disease obesity obsolete ymphosarcoma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis primary pulmonary hypertension prostate cancer prostate carcinoma protein-energy malnutrition psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma type 2 diabetes mellitus ulcerative colitis ureteral obstruction urinary bladder cancer viral infectious disease yellow fever
56848	sphingosine kinase 2	SPHK2	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 Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Kaposi's sarcoma Pick's disease Reye syndrome actinic keratosis acute lymphoblastic leukemia acute pancreatitis adrenoleukodystrophy adult acute lymphocytic leukemia adult lymphoma alcoholic hepatitis alcoholic liver cirrhosis amnestic disorder anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bile duct adenocarcinoma bile duct carcinoma bone disease bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cartilage disease central nervous system cancer central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease chikungunya childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood lymphoma childhood osteosarcoma cholangiocarcinoma chondrosarcoma chronic fatigue syndrome chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma connective tissue disease coronary artery disease cystic fibrosis dengue disease dengue hemorrhagic fever diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis essential hypertension fibrillary astrocytoma gallbladder disease gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma heart disease hematologic cancer hepatocellular carcinoma high grade glioma hypertension idiopathic interstitial pneumonia immune system disease influenza intrahepatic cholangiocarcinoma juvenile pilocytic astrocytoma large intestine cancer liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoma lymphopenia malignant astrocytoma malignant pleural mesothelioma metabolic dysfunction-associated steatohepatitis middle cerebral artery infarction mixed glioma multiple myeloma multiple sclerosis myelitis neuroblastoma neurodegenerative disease obesity obsolete asthenopia obsolete ymphosarcoma osteoarthritis osteoglophonic dysplasia osteosarcoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenocarcinoma papillary renal cell carcinoma parapsoriasis pilocytic astrocytoma pneumonia postinflammatory pulmonary fibrosis prostate cancer prostate carcinoma protoplasmic astrocytoma psoriasis pulmonary fibrosis pustulosis of palm and sole retinal disease retinitis retrograde amnesia rheumatoid arthritis sarcomatoid carcinoma seborrheic keratosis skin disease skin squamous cell carcinoma steatotic liver disease subependymal giant cell astrocytoma synovitis systemic lupus erythematosus tenosynovitis thrombocytopenia thyroid gland papillary carcinoma type 2 diabetes mellitus ureteral obstruction vascular disease viral infectious disease yellow fever
8879	sphingosine-1-phosphate lyase 1	SGPL1 Aliases: SPL	Homo sapiens (human)	Addison's disease Alzheimer's disease Charcot-Marie-Tooth disease Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IMAGe syndrome Marfan syndrome Niemann-Pick disease 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 Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome adrenal cortical hypofunction alveolar rhabdomyosarcoma anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome autosomal recessive congenital ichthyosis 1 breast cancer breast carcinoma cancer childhood cerebral astrocytoma chondrodysplasia-pseudohermaphroditism syndrome chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital hypothyroidism congenital ptosis congestive heart failure coronary artery disease cryptorchidism embryoma endometrial cancer endometrial carcinoma epilepsy familial nephrotic syndrome fibrillary astrocytoma focal segmental glomerulosclerosis gastroenteritis gemistocytic astrocytoma glucose intolerance high grade glioma hyperglycemia hypertropia hypoglycemia hypogonadism hypothyroidism ichthyosis idiopathic interstitial pneumonia ileitis ileocolitis inherited metabolic disorder juvenile pilocytic astrocytoma keratosis follicularis kidney disease large intestine cancer laryngeal disease lipoid nephrosis lymphopenia malignant astrocytoma mechanical strabismus microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly mongolian spot multiple sclerosis myxedema nephrosis nephrotic syndrome type 14 nephrotic syndrome type 1 nephrotic syndrome neurodegenerative disease neuropathy obesity obsolete congenital ichthyosiform erythroderma ophthalmoplegia peripheral nervous system disease pilocytic astrocytoma pneumonia polyneuropathy postinflammatory pulmonary fibrosis prediabetes syndrome proteinuria protoplasmic astrocytoma pseudoxanthoma elasticum ptosis pulmonary fibrosis sensorineural hearing loss situs inversus sphingolipidosis strabismus subependymal giant cell astrocytoma tracheal disease triple-A syndrome tuberous sclerosis uterine corpus cancer visual epilepsy
81537	sphingosine-1-phosphate phosphatase 1	SGPP1	Homo sapiens (human)	adult lymphoma cancer colitis embryoma gastroenteritis ileitis ileocolitis inflammatory bowel disease squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma
130367	sphingosine-1-phosphate phosphatase 2	SGPP2 Aliases: FLJ39004 SPP2	Homo sapiens (human)	cancer colitis embryoma gastroenteritis ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease stomach cancer stomach carcinoma ulcerative colitis
6713	squalene epoxidase	SQLE Aliases: squalene monooxygenase	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 breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral degeneration colorectal cancer colorectal carcinoma embryoma esophagus squamous cell carcinoma hepatocellular carcinoma large intestine cancer liver cancer long QT syndrome lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma microphthalmia neuroendocrine carcinoma neuroendocrine tumor obsolete Matthew-Wood syndrome prostate cancer prostate carcinoma sick sinus syndrome steatotic liver disease tinea corporis
8987	starch binding domain 1	STBD1 Aliases: FLJ41801 GENX-3414 genethonin 1	Homo sapiens (human)	Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease glycogen storage disease II
6319	stearoyl-CoA desaturase	SCD Aliases: FADS5 SCD1 acyl-CoA desaturase delta-9-desaturase fatty acid desaturase	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 Bannayan-Riley-Ruvalcaba syndrome Bietti crystalline corneoretinal dystrophy Bloom syndrome Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome Cowden syndrome Fabry disease Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Japanese encephalitis Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Timothy syndrome Wolman disease Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 actinic keratosis acute lymphoblastic leukemia adenocarcinoma adenoma allergic asthma amyloidosis amyotrophic lateral sclerosis anemia anorexia nervosa antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome basal cell carcinoma beta thalassemia bipolar disorder bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cardiomyopathy cardiovascular system disease catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hemolytic anemia congestive heart failure coronary artery disease cribriform carcinoma dementia dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dysthymic disorder embryoma endocrine exophthalmos endometrial cancer endometrial carcinoma endomyocardial fibrosis epidermodysplasia verruciformis essential hypertension eye disease familial combined hyperlipidemia familial hypertrophic cardiomyopathy gestational diabetes gliosarcoma glomerulonephritis glucose intolerance granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemoglobin C disease hemoglobin D disease hemoglobin E disease hemoglobinopathy hepatitis C hepatocellular carcinoma high grade glioma homocystinuria hyperglycemia hyperinsulinism hypertension hyperthyroidism hypertrophic cardiomyopathy immune system disease intrinsic asthma kidney disease large intestine cancer lipid storage disease lipoatrophic diabetes mellitus lipodystrophy liver cancer liver carcinoma liver cirrhosis long QT syndrome 1 long QT syndrome 2 long QT syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia major depressive disorder mastitis melancholic depression melanoma metabolic dysfunction-associated steatohepatitis metabolic dysfunction-associated steatotic liver disease mitral valve insufficiency mitral valve prolapse mixed glioma morbid obesity myeloproliferative disorder with eosinophilia nephritis nephrosis neurotic disorder nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea osteomalacia ovarian cancer ovarian carcinoma papillary adenocarcinoma papillary renal cell carcinoma patulous eustachian tube polycystic ovary syndrome postural orthostatic tachycardia syndrome prediabetes syndrome progressive muscular atrophy prostate adenocarcinoma prostate cancer prostate carcinoma protein C deficiency protein S deficiency pyoureter renal carcinoma renal cell carcinoma restrictive cardiomyopathy rheumatoid arthritis rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sebaceous carcinoma seborrheic keratosis sensorineural hearing loss sick sinus syndrome sickle cell anemia situs inversus skin disease skin melanoma splenic sequestration steatotic liver disease sweat gland cancer synovitis systemic primary carnitine deficiency disease thalassemia thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma thyrotoxicosis 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 urinary bladder cancer uterine corpus cancer viral infectious disease yellow fever
79966	stearoyl-CoA desaturase 5	SCD5 Aliases: ACOD4 FADS4 FLJ21032 HSCD5	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 T-cell acute lymphoblastic leukemia acquired immunodeficiency syndrome age related macular degeneration ankylosing spondylitis arthritis arthropathy autosomal dominant nonsyndromic deafness 79 breast cancer cancer cardiomyopathy cerebral degeneration degeneration of macula and posterior pole depressive disorder diabetes mellitus embryoma endomyocardial fibrosis familial hypertrophic cardiomyopathy hepatocellular carcinoma human immunodeficiency virus infectious disease hypertrophic cardiomyopathy liver cancer macular degeneration melanoma osteoarthritis primary ciliary dyskinesia 1 primary ciliary dyskinesia primary immunodeficiency disease restrictive cardiomyopathy rheumatoid arthritis sickle cell anemia skin melanoma systemic lupus erythematosus systemic primary carnitine deficiency disease type 2 diabetes mellitus
23098	sterile alpha and TIR motif containing 1	SARM1 Aliases: KIAA0524 SAMD2 SARM	Homo sapiens (human)	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease alternating hemiplegia of childhood amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis type 6 amyotrophic lateral sclerosis anterior horn cell disease autonomic neuropathy autosomal recessive distal hereditary motor neuronopathy 1 bacterial sepsis central nervous system disease chronic obstructive pulmonary disease disease of metabolism frontotemporal dementia late onset Parkinson's disease lateral sclerosis motor neuron disease nervous system disease neurodegenerative disease neuropathy peripheral nervous system disease polyneuropathy progressive muscular atrophy prostate cancer prostate carcinoma steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder
6715	steroid 5 alpha-reductase 1	SRD5A1 Aliases: 3-oxo-5-alpha-steroid 4-dehydrogenase 1	Homo sapiens (human)	abdominal aortic aneurysm alcohol dependence alcohol use disorder alopecia androgenic alopecia anxiety disorder bipolar disorder breast cancer breast carcinoma cancer central nervous system cancer congenital hypothyroidism depressive disorder diabetes mellitus dysthymic disorder embryoma endometriosis of ovary endometriosis of uterus endometriosis generalized anxiety disorder gliosarcoma high grade glioma hyperprolactinemia hypospadias hypothyroidism intermittent claudication major depressive disorder melancholic depression mixed glioma myxedema neurotic disorder nodular prostate obesity obsolete melancholia panic disorder peripheral artery disease peripheral vascular disease phobic disorder polycystic ovary syndrome primary cutaneous amyloidosis prostate cancer prostate carcinoma prostatic adenoma prostatic hypertrophy type 2 diabetes mellitus
6716	steroid 5 alpha-reductase 2	SRD5A2 Aliases: 3-oxo-5-alpha-steroid 4-dehydrogenase 2	Homo sapiens (human)	Sertoli cell-only syndrome Turner syndrome Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 adenosarcoma alcohol dependence alcohol use disorder alopecia androgen insensitivity syndrome androgenic alopecia azoospermia breast cancer breast carcinoma cancer childhood acute lymphocytic leukemia cryptorchidism diabetes mellitus diabetic ketoacidosis disorder of sexual development embryoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis gallbladder disease gonadal dysgenesis hepatitis C hepatocellular carcinoma hermaphroditism hyperprolactinemia hypogonadotropic hypogonadism 23 with or without anosmia hypospadias liver cancer liver carcinoma liver disease nephroblastoma nodular prostate oligospermia ovarian cancer ovarian carcinoma pancreatitis peripheral artery disease phimosis polycystic ovary syndrome post-traumatic stress disorder prostate cancer prostate carcinoma prostate disease prostatic adenoma pseudohermaphroditism schizophrenia type 2 diabetes mellitus urinary tract obstruction uterine corpus cancer
79644	steroid 5 alpha-reductase 3	SRD5A3 Aliases: 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)) FLJ13352 SRD5A2L SRD5A2L1 polyprenol reductase	Homo sapiens (human)	Creutzfeldt-Jakob disease Hailey-Hailey disease Kahrizi syndrome Marfan syndrome Rothmund-Thomson syndrome acquired hyperkeratosis agnosia angioma serpiginosum antithrombin III deficiency autistic disorder 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 bilateral optic nerve hypoplasia blindness capillary hemangioma cataract cavernous hemangioma cerebellar ataxia cerebellar disease coloboma congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation congenital hypothyroidism congenital nystagmus craniosynostosis cutis laxa dermatitis developmental coordination disorder dissociated nystagmus epilepsy eye disease fundus dystrophy glaucoma hypertrichosis hypothyroidism ichthyosis inguinal hernia intellectual disability isolated cleft palate isolated growth hormone deficiency learning disability mal de Meleda microcytic anemia microphthalmia myxedema nonepidermolytic palmoplantar keratoderma obsolete infantile epileptic encephalopathy optic atrophy palmoplantar keratosis pathologic nystagmus pituitary hypoplasia prostate cancer prostate carcinoma protein C deficiency protein S deficiency recurrent corneal erosion restrictive dermopathy situs inversus spontaneous ocular nystagmus syndromic X-linked intellectual disability 94 thrombophilia tuberous sclerosis visual epilepsy
412	steroid sulfatase	STS Aliases: ARSC arylsulfatase C steryl-sulfatase	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 Chagas disease Cockayne syndrome Cornelia de Lange syndrome Creutzfeldt-Jakob disease Down syndrome Dubowitz syndrome Evans' syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Joubert syndrome Kallmann syndrome Kawasaki disease Klinefelter syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Mycobacterium avium complex disease Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Patau syndrome Pick's disease Prader-Willi syndrome Renpenning syndrome Reye syndrome Robinow syndrome Seckel syndrome Sertoli cell-only syndrome Sheehan syndrome Silver-Russell syndrome Sjogren's syndrome Sjogren-Larsson syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Streptococcus pneumonia T-cell acute lymphoblastic leukemia Usher syndrome type 1 X-linked Aarskog syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 X-linked ichthyosis Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 achondroplasia achromatopsia acoustic neuroma acquired color blindness acquired hyperkeratosis acquired immunodeficiency syndrome actinic keratosis acute biphenotypic leukemia acute leukemia acute myeloid leukemia adenocarcinoma in situ adenocarcinoma adenoma adult fibrosarcoma adult liposarcoma adult lymphoma alcoholic hepatitis allergic asthma alopecia amnestic disorder amyloidosis anaplastic astrocytoma androgen insensitivity syndrome androgenic alopecia angioimmunoblastic T-cell lymphoma angiomatous meningioma anhidrosis anogenital venereal wart antithrombin III deficiency aortic valve disease 1 aortic valve disease 2 aortic valve disease aortic valve insufficiency aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy ascending cholangitis asthma ataxia with oculomotor apraxia type 1 atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune thrombocytopenic purpura autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant chondrodysplasia punctata autosomal recessive Robinow syndrome autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis azoospermia bacterial infectious disease bacterial sepsis benign meningioma bicuspid aortic valve disease bile duct adenocarcinoma bile duct carcinoma bladder carcinoma blastomycosis blue color blindness bone osteosarcoma brain cancer brain infarction breast cancer breast carcinoma breast fibroadenoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cataract 9 multiple types cellular schwannoma central nervous system lymphoma cerebral cavernous malformation 1 cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood cerebral astrocytoma childhood liposarcoma childhood lymphoma childhood osteosarcoma cholangiocarcinoma cholangitis cholera cholesteatoma chondrodysplasia punctata chondrodysplasia-pseudohermaphroditism syndrome chorioamnionitis chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma common wart communication disorder complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital nystagmus congestive heart failure corneal dystrophy coronary artery disease cribriform carcinoma cryptorchidism cutaneous fibrous histiocytoma cystic fibrosis dedifferentiated liposarcoma dermatitis diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma disease of metabolism dissociated nystagmus distal arthrogryposis embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis epidermodysplasia verruciformis epidermolysis bullosa dystrophica epidermolytic hyperkeratosis epilepsy epithelioid sarcoma esophagus adenocarcinoma essential hypertension essential thrombocythemia essential tremor eunuchism familial mediterranean fever familial nephrotic syndrome fibrillary astrocytoma fibrosarcoma fibrous meningioma gallbladder disease gastroenteritis gastrointestinal system disease gastroparesis gastroschisis gemistocytic astrocytoma generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma hemochromatosis type 1 hemochromatosis hepatic coma hepatic encephalopathy hepatitis C hepatocellular carcinoma hidradenoma high grade glioma human immunodeficiency virus infectious disease hydranencephaly hyperandrogenism hypercalcemia hypertension 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 hypohidrosis hypoparathyroidism-deafness-renal disease syndrome hypoparathyroidism hypopituitarism ichthyosis vulgaris ichthyosis ileitis ileocolitis in situ carcinoma inflammatory bowel disease inherited metabolic disorder intellectual disability intestinal disease intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma 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 keratoconjunctivitis sicca keratosis follicularis kidney disease kidney failure language disorder large intestine cancer laryngeal squamous cell carcinoma learning disability leprosy lipoid nephrosis liposarcoma lissencephaly liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lymphoma malignant astrocytoma malignant peripheral nerve sheath tumor melanoma melanotic neurilemmoma melioidosis meningioma meningothelial meningioma metachromatic leukodystrophy mevalonic aciduria microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic meningioma middle cerebral artery infarction migraine mixed glioma mixed oligodendroglioma-astrocytoma mongolian spot mood disorder mucosulfatidosis myelitis myelodysplastic syndrome myelofibrosis nephritis nephrocalcinosis nephronophthisis 1 nephrosis nephrotic syndrome neurilemmoma neurodegenerative disease nodular prostate non-suppurative otitis media non-syndromic X-linked intellectual disability nonpapillary renal cell carcinoma obesity obsolete congenital ichthyosiform erythroderma obsolete ymphosarcoma ocular albinism 1 olfactory groove meningioma oligospermia osteoarthritis osteosarcoma otitis media ovarian cancer ovarian carcinoma palindromic rheumatism pancreatic adenocarcinoma panhypopituitarism papillary renal cell carcinoma papilloma paracoccidioidomycosis parapsoriasis parasagittal meningioma patent ductus arteriosus pathologic nystagmus periodontitis peripheral vascular disease phosphorus metabolism disease pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma placental choriocarcinoma pleomorphic adenoma pleomorphic liposarcoma plexiform schwannoma pneumocystosis pneumonia polycystic ovary syndrome polyp of middle ear pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 postpartum depression primary sclerosing cholangitis prostate cancer prostate carcinoma prostatic adenoma protein C deficiency protein S deficiency protoplasmic astrocytoma psammomatous meningioma pseudohypoparathyroidism pseudoxanthoma elasticum psoriasis pustulosis of palm and sole pyoureter recessive dystrophic epidermolysis bullosa recurrent corneal erosion red color blindness red-green color blindness renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease retinal disease retinitis retrograde amnesia rheumatoid arthritis rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sclerosing cholangitis seborrheic keratosis secretory meningioma seminoma septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly skin disease skin melanoma skin papilloma skin tag speech disorder spinal meningioma spindle cell sarcoma spontaneous ocular nystagmus squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma suppurative cholangitis syndromic X-linked intellectual disability Najm type syringoma testicular cancer testicular germ cell cancer testis seminoma thrombophilia tick-borne encephalitis tongue squamous cell carcinoma transitional meningioma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome trypanosomiasis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer varicose veins vasculitis visual epilepsy
6646	sterol O-acyltransferase 1	SOAT1 Aliases: ACAT ACAT1 acyl-Coenzyme A: cholesterol acyltransferase	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 Behcet's disease Burkitt lymphoma Chagas disease Clouston syndrome Crohn's colitis Crohn's disease Down syndrome Fanconi anemia complementation group A Fanconi anemia Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Japanese encephalitis Kallmann syndrome Klinefelter syndrome Langerhans-cell histiocytosis Laron syndrome MHC class II deficiency Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Pick's disease Reye syndrome Sezary's disease Sheehan syndrome Sjogren's syndrome St. Louis encephalitis T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Zika fever achondroplasia acoustic neuroma acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosine deaminase deficiency adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma aggressive NK-cell leukemia allergic asthma allergic rhinitis alopecia areata alopecia amyloidosis amyotrophic lateral sclerosis anemia angiomatous meningioma ankylosing spondylitis arteriolosclerosis arteriosclerosis obliterans arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma ataxia telangiectasia atherosclerosis atopic dermatitis atrial fibrillation autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autosomal dominant polycystic kidney disease bacterial sepsis basal cell carcinoma benign meningioma bladder carcinoma bone disease bone marrow cancer bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma brucellosis bullous pemphigoid cancer cardiac tamponade cardiovascular system disease cartilage disease central nervous system cancer central nervous system lymphoma cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma childhood osteosarcoma childhood type dermatomyositis chromophobe renal cell carcinoma chronic fatigue syndrome chronic monocytic leukemia chronic myeloid leukemia chronic myelomonocytic leukemia chronic neutrophilic leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency cone-rod dystrophy 2 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congestive heart failure connective tissue disease coronary artery disease coronary thrombosis cribriform carcinoma cryptococcosis cutaneous lupus erythematosus dengue disease depressive disorder dermatitis herpetiformis dermatitis dermatomyositis diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma dry eye syndrome dysthymic disorder embryoma encephalitis encephalomyelitis endocrine exophthalmos endometrial cancer endometrial carcinoma eosinophilic esophagitis epithelioid malignant peripheral nerve sheath tumor esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential thrombocythemia extramedullary plasmacytoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial retinoblastoma fibrous meningioma gallbladder adenocarcinoma gastrointestinal stromal tumor gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance granular cell carcinoma granuloma annulare head and neck cancer head and neck squamous cell carcinoma heart disease hematologic cancer hematopoietic system disease hemiplegia hepatitis B hepatitis C hepatitis D hepatitis hepatoblastoma hepatocellular carcinoma herpes simplex high grade glioma human immunodeficiency virus infectious disease hyper IgE recurrent infection syndrome 1 hyperglycemia 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 immune system disease impotence inflammatory bowel disease 1 inflammatory bowel disease intraorbital meningioma intraventricular meningioma intrinsic asthma 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 myelomonocytic leukemia keratoconjunctivitis sicca kidney disease kidney rhabdoid cancer large intestine cancer leishmaniasis leprosy leukemia leukoencephalopathy with vanishing white matter liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma lymphoplasmacyte-rich meningioma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macrocytic anemia macroglobulinemia major depressive disorder malignant peripheral nerve sheath tumor melancholic depression melanoma meningioma meningothelial meningioma microcystic meningioma microphthalmia mitochondrial metabolism disease mitochondrial myopathy mixed glioma mood disorder multiple myeloma multiple sclerosis mumps myelitis myelodysplastic syndrome myelofibrosis myeloproliferative neoplasm myocardial infarction nasopharynx carcinoma nephritis nephrosis neurilemmoma neuroblastoma neurofibroma neurofibrosarcoma neurotic disorder non-Hodgkin lymphoma nutmeg liver obesity obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete lymphoplasmacytic lymphoma obsolete malignant histiocytosis obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma olfactory groove meningioma osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma panhypopituitarism papillary renal cell carcinoma parapsoriasis parasagittal meningioma peripheral T-cell lymphoma peripheral nervous system neoplasm phototoxic dermatitis pituitary adenoma plasmacytoma polycystic kidney disease 1 polycythemia vera polycythemia porphyria cutanea tarda postinflammatory pulmonary fibrosis prediabetes syndrome premature ejaculation primary biliary cholangitis primary cutaneous T-cell non-Hodgkin lymphoma primary immunodeficiency disease primary open angle glaucoma primary progressive multiple sclerosis progressive multifocal leukoencephalopathy progressive muscular atrophy progressive relapsing multiple sclerosis prostate cancer prostate carcinoma psammomatous meningioma pseudosarcomatous fibromatosis psoriasis psychologic dyspareunia pulmonary alveolar proteinosis pulmonary emphysema pulmonary fibrosis pulmonary tuberculosis pustulosis of palm and sole pyoderma gangrenosum pyoureter rabies renal carcinoma renal cell carcinoma reticulosarcoma retinoblastoma rheumatoid arthritis sarcoidosis sarcomatoid renal cell carcinoma scleroderma seborrheic keratosis secondary progressive multiple sclerosis secretory meningioma severe combined immunodeficiency silent myocardial infarction skin disease skin melanoma skin squamous cell carcinoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal meningioma spondyloarthropathy spondylosis squamous cell carcinoma stomach cancer stomach carcinoma subacute delirium synovitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tauopathy tenosynovitis thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma tongue squamous cell carcinoma transitional meningioma trilateral retinoblastoma trypanosomiasis tuberculous pneumothorax tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis ureteral obstruction urinary bladder cancer uterine corpus cancer uveoparotid fever vascular disease vasomotor rhinitis ventricular septal defect viral infectious disease visceral leishmaniasis vitiligo xanthomatosis xerophthalmia yellow fever
8435	sterol O-acyltransferase 2	SOAT2 Aliases: ACAT2 acyl-Coenzyme A: cholesterol acyltransferase 2	Homo sapiens (human)	Wolman disease arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer celiac disease coronary artery disease end stage renal disease familial hyperlipidemia hepatocellular carcinoma lipid storage disease liver cancer lysosomal acid lipase deficiency nephrotic syndrome nutmeg liver steatotic liver disease
6342	sterol carrier protein 2	SCP2	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 Refsum disease Reye syndrome Zellweger syndrome acoustic neuroma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis azoospermia bone disease breast cancer breast carcinoma cartilage disease cerebral degeneration collagen disease connective tissue disease critical illness polyneuropathy distal arthrogryposis dystonia focal hand dystonia generalized dystonia hyperglycemia hypogonadism infantile Refsum disease inflammatory and toxic neuropathy leukoencephalopathy with vanishing white matter meningioma meningoencephalitis motor neuritis neuritis neurodegenerative disease neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis neuropathy obesity peripheral nervous system disease pituitary adenoma pituitary cancer pituitary carcinoma polyneuropathy progressive multifocal leukoencephalopathy steatotic liver disease vasculitis
6309	sterol-C5-desaturase	SC5D Aliases: delta(7)-sterol 5(6)-desaturase lathosterol oxidase	Homo sapiens (human)	Marfan syndrome Peters anomaly Smith-Lemli-Opitz syndrome Unverricht-Lundborg syndrome basal cell carcinoma blepharospasm cataract cleft palate clubfoot complex partial epilepsy congenital heart disease congenital ptosis cornea plana early myoclonic encephalopathy epilepsy focal hand dystonia gallbladder disease gingival hypertrophy gingival overgrowth intellectual disability intrahepatic cholestasis isolated cleft palate learning disability liver disease meningocele microcephaly placental insufficiency polydactyly ptosis sensorineural hearing loss situs inversus temporal lobe epilepsy thrombocytopenia tuberous sclerosis visual epilepsy
27230	stress associated endoplasmic reticulum protein 1	SERP1	Homo sapiens (human)
9126	structural maintenance of chromosomes 3	SMC3 Aliases: BAM HCAP SMC3L1 bamacan bamacan proteoglycan	Homo sapiens (human)	Burkitt lymphoma Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome Dubowitz syndrome Laron syndrome Marfan syndrome Meckel 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 Roberts syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Turner syndrome X-linked Aarskog syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma allergic asthma anxiety disorder arteriosclerotic cardiovascular disease asthma atherosclerosis atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome blepharitis blind hypotensive eye bone cancer bone osteosarcoma bronchus cancer bronchus carcinoma cancer carcinoma cataract 32 multiple types cataract central nervous system lymphoma childhood lymphoma choanal atresia chondrodysplasia-pseudohermaphroditism syndrome chronic interstitial cystitis chronic monocytic leukemia cleft palate cleidocranial dysplasia clubfoot colon carcinoma colorectal cancer cone-rod dystrophy congenital diaphragmatic hernia congenital nystagmus congenital ptosis cornea plana coronary artery disease craniosynostosis cribriform carcinoma cryptorchidism dissociated nystagmus embryoma epilepsy esophagitis fundus albipunctatus gastroesophageal reflux disease generalized anxiety disorder gingivitis glaucoma gonadal dysgenesis granular cell carcinoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hypertrichosis hypertropia hypospadias inguinal hernia intellectual disability interstitial cystitis intestinal benign neoplasm intestinal cancer intestinal volvulus intrinsic asthma isolated cleft palate kidney failure kwashiorkor large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoid leukemia lymphoma marasmus mechanical strabismus megacolon microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly myeloid leukemia myopia neuropathy nutrition disease obsolete SC phocomelia syndrome obsolete ymphosarcoma ophthalmoplegia osteosarcoma patent foramen ovale pathologic nystagmus peptic esophagitis periodontitis peripheral nervous system disease placental insufficiency pneumonia prostate cancer prostate carcinoma protein-energy malnutrition prune belly syndrome ptosis pulmonary valve stenosis pyloric stenosis radioulnar synostosis retinitis pigmentosa sarcomatoid carcinoma sensorineural hearing loss situs inversus speech disorder spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 thromboangiitis obliterans toxic megacolon trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma ventricular septal defect vesicoureteral reflux visual epilepsy
6389	succinate dehydrogenase complex flavoprotein subunit A	SDHA Aliases: FP SDHF flavoprotein subunit of complex II succinate dehydrogenase [ubiquinone] flavoprotein subunit	Homo sapiens (human)	Laron syndrome Leigh disease Parkinson's disease Unverricht-Lundborg syndrome X-linked dilated cardiomyopathy achondroplasia adrenal gland cancer agnosia anaplastic astrocytoma anemia aniridia arthritis arthropathy ataxia with oculomotor apraxia type 1 attention deficit hyperactivity disorder benign breast phyllodes tumor blepharospasm blindness bone osteosarcoma brain disease breast cancer breast carcinoma breast malignant phyllodes tumor cancer cardiomyopathy cervical adenocarcinoma cervical cancer cervix carcinoma childhood astrocytic tumor childhood cerebral astrocytoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm cone-rod dystrophy congenital diaphragmatic hernia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congenital ptosis congestive heart failure dementia 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 dissociated nystagmus duodenum cancer dystonia early myoclonic encephalopathy embryoma endomyocardial fibrosis epilepsy epithelioid sarcoma esophageal cancer esophageal carcinoma exanthem familial adenomatous polyposis familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma focal hand dystonia fundus albipunctatus gastric adenocarcinoma gastrointestinal stromal tumor gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis heart cancer hepatocellular carcinoma high grade glioma hypercalcemia hypertensive retinopathy hypertrichosis hypertrophic cardiomyopathy hypertropia ileus insulinoma intellectual disability intestinal obstruction islet cell tumor isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma kidney disease lactic acidosis learning disability left ventricular noncompaction leukodystrophy lipoatrophic diabetes mellitus lipodystrophy liver cancer lung cancer lung non-small cell carcinoma macrocytic anemia malignant astrocytoma mechanical strabismus melanoma mitochondrial complex II deficiency mitochondrial metabolism disease mitochondrial myopathy multiple endocrine neoplasia type 1 myopathy nephritis nephrocalcinosis neuroblastoma neurodegenerative disease neuroendocrine carcinoma neuropathy nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma obsolete constipation ophthalmoplegia optic atrophy 1 optic atrophy osteoarthritis osteosarcoma oxyphilic adenoma palmoplantar keratosis panic disorder papillary renal cell carcinoma paraganglioma parathyroid adenoma parathyroid carcinoma pathologic nystagmus peripheral nervous system disease pheochromocytoma phosphorus metabolism disease pilocytic astrocytoma pituitary adenoma placental insufficiency prolactinoma proteinuria protoplasmic astrocytoma ptosis rectal benign neoplasm rectum cancer renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa sarcoma sarcomatoid renal cell carcinoma schizophrenia sensorineural hearing loss skin melanoma small intestine benign neoplasm small intestine cancer spindle cell sarcoma spontaneous ocular nystagmus stomach cancer strabismus subependymal giant cell astrocytoma syndromic X-linked intellectual disability 94 type 2 diabetes mellitus ventricular septal defect vesicoureteral reflux visual epilepsy
6390	succinate dehydrogenase complex iron sulfur subunit B	SDHB Aliases: iron-sulfur subunit of complex II succinate dehydrogenase [ubiquinone] iron-sulfur subunit	Homo sapiens (human)	Alzheimer's disease Bannayan-Riley-Ruvalcaba syndrome Carney-Stratakis syndrome Clouston syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Leigh disease MELAS syndrome Marfan syndrome Peutz-Jeghers syndrome Richter's syndrome achondroplasia acoustic neuroma acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenal gland disease adrenocortical carcinoma adult oligodendroglioma agnosia anemia angioedema angiomatous meningioma angiomyoma aniridia autistic disorder benign breast phyllodes tumor benign meningioma bilateral breast cancer bladder carcinoma blindness breast cancer breast carcinoma breast malignant phyllodes tumor cancer cardiomyopathy cataract 4 multiple types cataract central nervous system cancer cerebral convexity meningioma childhood kidney cell carcinoma childhood oligodendroglioma chondroma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital adrenal hyperplasia congenital nystagmus congestive heart failure cranial nerve disease cranial nerve palsy cribriform carcinoma cutaneous fibrous histiocytoma dementia developmental coordination disorder diabetic cataract diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy dissociated nystagmus duodenum cancer embryoma endocrine gland cancer endometrial cancer endometrial carcinoma endomyocardial fibrosis epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exanthem familial adenomatous polyposis familial hypertrophic cardiomyopathy fibrous meningioma fissured tongue fundus albipunctatus gastrointestinal stromal tumor geographic tongue glomangioma glomerulonephritis glomus tumor goiter granular cell carcinoma gynecomastia head and neck cancer heart cancer hemangioblastoma hemangioma hepatocellular carcinoma hidradenoma high grade glioma hypercalcemia hyperparathyroidism hypertension hypertensive retinopathy hypertrophic cardiomyopathy hypertrophy of breast ileus in situ carcinoma infant gynecomastia insulinoma intellectual disability intestinal obstruction intracranial hypertension intraorbital meningioma intraventricular meningioma islet cell tumor kidney cancer kidney disease kwashiorkor large intestine cancer learning disability leiomyoma leukodystrophy lipoma liver cancer macrocytic anemia malignant pheochromocytoma marasmus melanoma meningioma meningothelial meningioma microcephaly microcystic meningioma mitochondrial complex II deficiency mitochondrial encephalomyopathy mitochondrial metabolism disease mitochondrial myopathy mixed oligodendroglioma-astrocytoma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myofibrillar myopathy 1 myofibroma myopathy nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter nutrition disease obsolete constipation olfactory groove meningioma oligodendroglioma ophthalmoplegia osteitis fibrosa oxyphilic adenoma palmoplantar keratosis pancreatic adenocarcinoma panic disorder papillary adenocarcinoma papillary renal cell carcinoma papilloma paraganglioma parasagittal meningioma pathologic nystagmus peripheral nervous system neoplasm pheochromocytoma phosphorus metabolism disease pituitary adenoma placental insufficiency pleomorphic lipoma primary autosomal recessive microcephaly 1 prolactinoma protein-energy malnutrition proteinuria psammomatous meningioma pseudotumor cerebri renal artery obstruction renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa sarcoma sarcomatoid renal cell carcinoma scoliosis secretory meningioma sensorineural hearing loss situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag small intestine benign neoplasm small intestine cancer spinal meningioma spindle cell sarcoma spontaneous ocular nystagmus squamous cell papilloma stomach cancer stomach carcinoma syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma transitional meningioma tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer urticaria uterine corpus cancer uterine fibroid vesicoureteral reflux von Hippel-Lindau disease
6391	succinate dehydrogenase complex subunit C	SDHC Aliases: CYB560 cybL large subunit of cytochrome b succinate dehydrgenase cytochrome b succinate dehydrogenase cytochrome b560 subunit	Homo sapiens (human)	Bannayan-Riley-Ruvalcaba syndrome Carney complex Carney-Stratakis syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Leigh disease Peutz-Jeghers syndrome Raynaud disease achondroplasia achromatopsia acoustic neuroma acquired color blindness adenocarcinoma adenoma adrenal adenoma adrenal cortex cancer adrenal gland cancer anemia angioedema angiomatous meningioma aniridia autistic disorder autosomal dominant cerebellar ataxia benign meningioma bipolar disorder blue color blindness bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer capillary hemangioma cataract 4 multiple types cataract cavernous hemangioma central nervous system cancer cerebral convexity meningioma childhood osteosarcoma choriocarcinoma chromophobe renal cell carcinoma clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma congestive heart failure cranial nerve disease cranial nerve palsy cutaneous fibrous histiocytoma duodenum cancer embryoma endocrine gland cancer endometrial cancer endometrial carcinoma epilepsy epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exanthem fibrous meningioma fissured tongue follicular adenoma gangliocytoma ganglioneuroma gastrointestinal stromal tumor gastrointestinal system cancer geographic tongue gestational diabetes gliosarcoma glomerulonephritis goiter gynecomastia head and neck cancer heart cancer hemangioma hepatitis C hepatocellular carcinoma hidradenoma high grade glioma hypercalcemia hypertension hypertensive retinopathy hypertrophy of breast ileus infant gynecomastia intellectual disability intestinal obstruction intracranial hypertension intraorbital meningioma intraventricular meningioma kidney disease large intestine cancer learning disability lipoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma macrocytic anemia melanoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma mitochondrial metabolism disease mitochondrial myopathy mixed glioma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myopia nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter obsolete constipation olfactory groove meningioma osteosarcoma palmoplantar keratosis panic disorder papillary adenoma papillary renal cell carcinoma papilloma paraganglioma parasagittal meningioma peripheral nervous system neoplasm pheochromocytoma phosphorus metabolism disease pituitary adenoma placenta cancer pleomorphic lipoma primary hyperparathyroidism prostate cancer prostate carcinoma proteinuria psammomatous meningioma pseudotumor cerebri rectal benign neoplasm rectum cancer red color blindness red-green color blindness renal carcinoma renal cell carcinoma renal osteodystrophy sarcoma sarcomatoid renal cell carcinoma scleroderma scoliosis secretory meningioma sensorineural hearing loss skin melanoma skin papilloma skin tag small intestine benign neoplasm small intestine cancer spinal meningioma spindle cell sarcoma spinocerebellar ataxia type 2 squamous cell papilloma stomach cancer stomach carcinoma syringoma systemic scleroderma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma transitional meningioma tuberous sclerosis urticaria uterine corpus cancer visual epilepsy von Hippel-Lindau disease

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