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 **776 - 800** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▼	Disease Ontology
64761	poly(ADP-ribose) polymerase family member 12	PARP12 Aliases: ARTD12 FLJ22693 PARP-12 ZC3H1	Homo sapiens (human)	Zika fever age related macular degeneration cancer coronary artery disease degeneration of macula and posterior pole hepatocellular carcinoma influenza liver cancer macular degeneration viral infectious disease vitiligo
3572	interleukin 6 cytokine family signal transducer	IL6ST	Homo sapiens (human)	Alzheimer's disease arteriosclerosis brain ischemia hepatocellular carcinoma hyper IgE recurrent infection syndrome 4 hyperandrogenism hypertension primary immunodeficiency disease rheumatoid arthritis status epilepticus stomach cancer visual epilepsy
146712	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	B3GNTL1 Aliases: B3GNT8	Homo sapiens (human)	bronchus cancer bronchus carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer large intestine cancer lung cancer lung carcinoma parapsoriasis psoriasis pustulosis of palm and sole
2572	glutamate decarboxylase 2	GAD2 Aliases: GAD65	Homo sapiens (human)	Addison's disease Aicardi-Goutieres syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Balo concentric sclerosis Graves' disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Miller-Dieker lissencephaly syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Smith-Magenis syndrome Stiff-Person syndrome West Nile fever adrenal cortical hypofunction adrenoleukodystrophy agnosia alcohol dependence alcohol use disorder alternating hemiplegia of childhood amnestic disorder amphetamine abuse anxiety disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis autonomic neuropathy basal ganglia disease bipolar disorder borderline personality disorder breast cancer breast carcinoma cancer cardiac arrest celiac disease central nervous system disease cerebellar ataxia cerebellar disease cerebral degeneration cocaine abuse cocaine dependence colorectal cancer colorectal carcinoma complex partial epilepsy craniosynostosis delusional disorder depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of mental health disease of metabolism dissociative amnesia drug psychosis dysthymic disorder embryoma encephalitis encephalomyelitis epilepsy essential hypertension focal epilepsy generalized anxiety disorder gestational diabetes glomerulonephritis glucose intolerance goiter heroin dependence herpes simplex hypertension hyperthyroidism idiopathic generalized epilepsy immune system disease insulinoma intermittent explosive disorder ischiocoxopodopatellar syndrome kidney disease kwashiorkor large intestine cancer major depressive disorder marasmus melancholic depression middle cerebral artery infarction mood disorder morbid obesity morphine dependence multiple sclerosis myelitis myotonic dystrophy type 1 narcolepsy nephritis nephrosis nervous system disease neuromuscular junction disease neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neurotic disorder nutrition disease obesity obsessive-compulsive disorder obsolete melancholia obsolete type 1 diabetes mellitus 9 pancreatic cancer pancreatic carcinoma panic disorder partial motor epilepsy pernicious anemia phobic disorder prediabetes syndrome prostate cancer prostate carcinoma protein-energy malnutrition psychotic disorder pyoureter retinal disease retinitis schizoaffective disorder schizophrenia schizophreniform disorder secondary Parkinson disease spastic cerebral palsy temporal lobe epilepsy thyroid gland disease thyrotoxicosis transient cerebral ischemia type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus visual epilepsy withdrawal disorder
9060	3'-phosphoadenosine 5'-phosphosulfate synthase 2	PAPSS2 Aliases: ATPSK2 PAPS synthase 2 adenosine 5'-phosphosulfate kinase bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	Homo sapiens (human)	Ehlers-Danlos syndrome Laron syndrome Marfan syndrome achondroplasia acne anovulation arthritis arthropathy brachyolmia diabetes mellitus diastrophic dysplasia hyperandrogenism hypertrichosis intellectual disability learning disability mucopolysaccharidosis IV multiple epiphyseal dysplasia osteoarthritis osteochondrodysplasia osteogenesis imperfecta polycystic ovary syndrome scoliosis situs inversus spondyloepimetaphyseal dysplasia, Pakistani type tuberous sclerosis type 2 diabetes mellitus
4200	malic enzyme 2	ME2 Aliases: NAD-dependent malic enzyme, mitochondrial malate dehydrogenase (oxaloacetate-decarboxylating)	Homo sapiens (human)	bipolar disorder cancer embryoma epilepsy generalized epilepsy with febrile seizures plus giant cell glioblastoma glioblastoma high grade glioma idiopathic generalized epilepsy leukemia lung benign neoplasm lung cancer lung non-small cell carcinoma microphthalmia obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder
5048	platelet activating factor acetylhydrolase 1b regulatory subunit 1	PAFAH1B1 Aliases: LIS1 NudF PAFAH lissencephaly-1	Homo sapiens (human)	3p deletion syndrome Alzheimer's disease Angelman syndrome B-cell lymphoma Behcet's disease Crohn's colitis Crohn's disease Ewing sarcoma Gaucher's disease type I Gaucher's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Joubert syndrome Langerhans-cell histiocytosis Marfan syndrome Miller-Dieker lissencephaly syndrome NFIA-related disorder Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease REM sleep behavior disorder Rett syndrome SATB2-associated syndrome Shwachman-Diamond syndrome Smith-Magenis syndrome West syndrome X-linked juvenile retinoschisis 1 Zellweger syndrome acute monocytic leukemia acute myeloid leukemia adult medulloblastoma adult respiratory distress syndrome aggressive periodontitis allergic asthma alternating hemiplegia of childhood anxiety disorder aplastic anemia asthma autism spectrum disorder autistic disorder autonomic neuropathy bone marrow cancer bone osteosarcoma bronchus cancer bronchus carcinoma cancer central nervous system disease childhood acute myeloid leukemia childhood leukemia childhood medulloblastoma childhood osteosarcoma chromophobe renal cell carcinoma chromosome 13q14 deletion syndrome chromosome 15q13.3 microdeletion syndrome chromosome 15q24 deletion syndrome chromosome 15q26-qter deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16p12.2-p11.2 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 17p13.3 duplication syndrome chromosome 17q12 deletion syndrome chromosome 17q23.1-q23.2 deletion syndrome chromosome 18q deletion syndrome chromosome 1q21.1 deletion syndrome chromosome 1q41-q42 deletion syndrome chromosome 2p16.1-p15 deletion syndrome chromosome 6pter-p24 deletion syndrome chromosome 8q21.11 deletion syndrome chromosome 9p deletion syndrome chronic monocytic leukemia chronic myelomonocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congestive heart failure cortical dysplasia-focal epilepsy syndrome dementia depressive disorder distal 10q deletion syndrome distal arthrogryposis dysthymic disorder dystonia embryoma epilepsy essential thrombocythemia essential tremor familial adenomatous polyposis 1 familial adenomatous polyposis generalized anxiety disorder giant cell glioblastoma glioblastoma glomerulonephritis hematologic cancer hepatocellular carcinoma high grade glioma hydranencephaly hydrocephalus impulse control disorder inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intermittent explosive disorder intrinsic asthma islet cell tumor juvenile myelomonocytic leukemia kidney disease kleptomania late onset Parkinson's disease learning disability leukemia lingual-facial-buccal dyskinesia lissencephaly 1 lissencephaly liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephaly mood disorder movement disease multiple myeloma multiple system atrophy myelodysplastic syndrome myelodysplastic/myeloproliferative neoplasm myeloproliferative neoplasm nephritis nephrosis nervous system disease neurotic disorder newborn respiratory distress syndrome non-Hodgkin lymphoma nonpapillary renal cell carcinoma obsolete constipation obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma obstructive hydrocephalus oculocerebrorenal syndrome omphalocele osteosarcoma papillary renal cell carcinoma periodontosis periventricular nodular heterotopia peroxisome biogenesis disorder 1A phobic disorder polycystic ovary syndrome polyhydramnios pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 postural orthostatic tachycardia syndrome progressive supranuclear palsy psychotic disorder pyoureter renal carcinoma renal cell carcinoma reticulosarcoma retinitis pigmentosa 13 sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder secondary Parkinson disease senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder subcortical band heterotopia syndromic X-linked intellectual disability Najm type trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis ulcerative colitis umbilical hernia vascular disease visual epilepsy
11041	beta-1,4-glucuronyltransferase 1	B4GAT1 Aliases: B3GN-T1 BETA3GNTI IGnT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase iGAT	Homo sapiens (human)	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome anencephaly 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 blindness breast cancer breast carcinoma cataract centronuclear myopathy coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A13 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism distal myopathy facioscapulohumeral muscular dystrophy glaucoma hydranencephaly hydrocephalus hydronephrosis isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lissencephaly megaconial type congenital muscular dystrophy microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 nemaline myopathy 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type
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
8704	beta-1,4-galactosyltransferase 2	B4GALT2 Aliases: Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase N-acetyllactosamine synthase beta4Gal-T2 lactose synthase A	Homo sapiens (human)	attention deficit hyperactivity disorder cervical cancer colorectal cancer colorectal carcinoma diabetic cataract diabetic retinopathy large intestine cancer
5261	phosphorylase kinase catalytic subunit gamma 2	PHKG2	Homo sapiens (human)	glycogen storage disease IXc glycogen storage disease liver cirrhosis
84812	phospholipase C delta 4	PLCD4	Homo sapiens (human)	breast cancer breast carcinoma primary pulmonary hypertension
51084	crystallin lambda 1	CRYL1 Aliases: GDH L-gulonate 3-dehydrogenase MGC149525 MGC149526 crystallin, lamda 1 lambda-CRY lambda-crystallin homolog	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 Laron syndrome Pick's disease Reye syndrome T-cell acute lymphoblastic leukemia Zollinger-Ellison syndrome achondroplasia acquired thrombocytopenia acute biphenotypic leukemia acute leukemia acute myeloid leukemia autoimmune disease autoimmune lymphoproliferative syndrome beta thalassemia breast cancer breast carcinoma cancer cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract cerebral degeneration cholangiocarcinoma diabetes insipidus diarrhea embryoma giardiasis hepatocellular carcinoma hyperinsulinism hypoglycemia immune system disease intrahepatic cholangiocarcinoma liver cancer liver carcinoma mood disorder neurohypophyseal diabetes insipidus perinatal necrotizing enterocolitis placental insufficiency primary hyperoxaluria prostate cancer prostate carcinoma thalassemia
84532	acyl-CoA synthetase short chain family member 1	ACSS1 Aliases: AceCS2L MGC33843 dJ568C11.3	Homo sapiens (human)	acute myocardial infarction bladder carcinoma cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary thrombosis embryoma lung cancer lung non-small cell carcinoma myocardial infarction papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction urinary bladder cancer
10858	cytochrome P450 family 46 subfamily A member 1	CYP46A1	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Creutzfeldt-Jakob disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lennox-Gastaut syndrome Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 age related macular degeneration amyloidosis brain disease cancer cardiac arrest cerebral degeneration cerebrovascular disease chronic fatigue syndrome colorectal cancer colorectal carcinoma degeneration of macula and posterior pole depressive disorder diabetes mellitus dysthymic disorder encephalitis encephalomyelitis giant cell glioblastoma glioblastoma high grade glioma large intestine cancer macular degeneration major depressive disorder melancholic depression multiple sclerosis myelitis neurodegenerative disease neurotic disorder obsolete melancholia primary open angle glaucoma tauopathy type 2 diabetes mellitus
3958	galectin 3	LGALS3 Aliases: GALIG MAC-2 advanced glycation end-product receptor 3	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 Bartter disease Behcet's disease Burkitt lymphoma COVID-19 Chagas disease Conn's syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Fabry disease Hantavirus hemorrhagic fever with renal syndrome Hermansky-Pudlak 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 Kaposi's sarcoma Klatskin's tumor Langerhans-cell histiocytosis Lewy body dementia Leydig cell tumor Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Sertoli-Leydig cell tumor T-cell acute lymphoblastic leukemia Waterhouse-Friderichsen syndrome X-linked dilated cardiomyopathy abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acoustic neuroma acrodermatitis acromegaly actinic keratosis acute apical periodontitis acute chest syndrome acute kidney failure acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute myocarditis acute pancreatitis acute promyelocytic leukemia adenocarcinoma adenoid cystic carcinoma adenoma adrenal gland cancer adult T-cell leukemia/lymphoma adult astrocytic tumor adult lymphoma adult oligodendroglioma adult respiratory distress syndrome allergic asthma allergic conjunctivitis allergic rhinitis amnestic disorder amyotrophic lateral sclerosis anaplastic astrocytoma androgen insensitivity syndrome angiomatous meningioma angiomyolipoma ankylosing spondylitis anterolateral myocardial infarction anteroseptal myocardial infarction anxiety disorder aortic aneurysm aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal dominant polycystic kidney disease autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bacterial sepsis basal cell carcinoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bladder urothelial carcinoma blastomycosis blood coagulation disease bone marrow cancer bone osteosarcoma brain cancer brain disease brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease central nervous system cancer central nervous system lymphoma cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervicitis cervix carcinoma cervix uteri carcinoma in situ chancroid childhood astrocytic tumor childhood cerebral astrocytoma childhood kidney cell carcinoma childhood leukemia childhood lymphoma childhood oligodendroglioma childhood osteosarcoma childhood type dermatomyositis cholangiocarcinoma chorioamnionitis chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chylomicron retention disease clear cell adenocarcinoma clear cell meningioma clear cell renal cell carcinoma colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital central hypoventilation syndrome congenital heart disease congenital hypothyroidism congenital muscular dystrophy congestive heart failure corneal disease corneal neovascularization corneal ulcer coronary artery disease coronary thrombosis cribriform carcinoma cryptococcosis cutaneous fibrous histiocytoma cystinosis degenerative disc disease demyelinating disease depressive disorder dermatitis dermatomyositis dermatosis papulosa nigra diabetes mellitus diabetic angiopathy diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism distal arthrogryposis distal myopathy dry eye syndrome duodenum cancer dysplastic nevus syndrome dysthymic disorder embryoma embryonal cancer encephalitis encephalomyelitis endemic goiter endocervicitis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis enterobiasis epilepsy esophageal cancer esophageal carcinoma essential hypertension essential thrombocythemia exanthem facioscapulohumeral muscular dystrophy familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial retinoblastoma fibrillary astrocytoma fibrous meningioma follicular adenoma gallbladder disease gangliocytoma ganglioneuroblastoma ganglioneuroma gastric adenocarcinoma gastroenteritis gemistocytic astrocytoma generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma giant papillary conjunctivitis glioblastoma gliosarcoma glomerulonephritis glucose intolerance goiter granular cell carcinoma head and neck squamous cell carcinoma heart cancer heart disease hemangioblastoma hematologic cancer hemochromatosis type 1 hemochromatosis hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hidradenoma high grade glioma hyperglycemia hyperpituitarism hypertension hypertrophic cardiomyopathy hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease insulinoma intermediate coronary syndrome intestinal schistosomiasis intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma inverted follicular keratosis juvenile pilocytic astrocytoma keratoconus kidney angiomyolipoma kidney cancer kidney disease kidney failure kwashiorkor large intestine cancer leiomyoma leishmaniasis leprosy leptospirosis leukemia limb-girdle muscular dystrophy lipid storage disease liver cancer liver cirrhosis liver disease localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphangioleiomyomatosis lymphoblastic lymphoma lymphogranuloma venereum lymphoma major depressive disorder malignant astrocytoma malignant mesothelioma marasmus melancholic depression melanoacanthoma melanoma meningioma meningothelial meningioma mevalonic aciduria microcystic adenoma microcystic meningioma microphthalmia middle cerebral artery infarction migraine mixed glioma mixed oligodendroglioma-astrocytoma mixed sleep apnea mucinous adenocarcinoma multiple myeloma multiple sclerosis muscular dystrophy myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma myxedema necrotizing ulcerative gingivitis neovascular inflammatory vitreoretinopathy nephritis nephrosis neuroblastoma neurodegenerative disease neurogenic arthropathy neurotic disorder newborn respiratory distress syndrome nodular goiter non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea oculopharyngeal muscular dystrophy olfactory groove meningioma oligodendroglioma oral candidiasis osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma ovary serous adenocarcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma paracoccidioidomycosis parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma patent ductus arteriosus peripheral artery disease pheochromocytoma phobic disorder pilocytic astrocytoma pituitary adenoma placental insufficiency plasmacytoma pneumonia polycystic kidney disease 1 polycystic ovary syndrome polycythemia vera polycythemia portal hypertension postinflammatory pulmonary fibrosis prediabetes syndrome primary biliary cholangitis primary hyperaldosteronism primary immunodeficiency disease primary progressive multiple sclerosis primary pulmonary hypertension progressive muscular atrophy progressive relapsing multiple sclerosis prolactinoma prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma psoriasis psychotic disorder pulmonary fibrosis pulmonary hypertension pustulosis of palm and sole pyoureter recurrent hypersomnia renal carcinoma renal cell carcinoma reticulosarcoma retinoblastoma retrograde amnesia rhabdomyosarcoma rheumatoid arthritis rippling muscle disease 2 salivary gland adenoid cystic carcinoma salivary gland cancer sarcomatoid carcinoma sarcomatoid renal cell carcinoma schistosomiasis schizoaffective disorder schizophrenia schizophreniform disorder scleroderma seborrheic dermatitis seborrheic keratosis secondary progressive multiple sclerosis secretory meningioma seminoma sex cord-gonadal stromal tumor sick sinus syndrome sickle cell anemia silent myocardial infarction skin benign neoplasm skin cancer skin disease skin melanoma skin papilloma skin tag skull base chordoma sleep apnea small intestine cancer smooth muscle tumor spinal meningioma spinal muscular atrophy squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subacute delirium subependymal giant cell astrocytoma substernal goiter synovitis syringoma systemic lupus erythematosus systemic scleroderma systolic heart failure tenosynovitis testicular cancer testicular germ cell cancer testis seminoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland papillary carcinoma tongue cancer tongue squamous cell carcinoma transitional cell carcinoma transitional meningioma trichinosis trilateral retinoblastoma trypanosomiasis tuberculosis 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 uterine fibroid vascular disease vasomotor rhinitis venous hemangioma vernal conjunctivitis viral infectious disease visceral leishmaniasis visual epilepsy xerophthalmia yaws
7357	UDP-glucose ceramide glucosyltransferase	UGCG Aliases: GCS ceramide glucosyltransferase glucosylceramide synthase	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 Fabry disease Gaucher's disease type I Gaucher's disease Niemann-Pick disease type C1 Niemann-Pick disease Pick's disease Reye syndrome Sandhoff disease acute myeloid leukemia aggressive NK-cell leukemia amyotrophic lateral sclerosis anemia brain stem infarction breast adenocarcinoma breast cancer breast carcinoma cancer carcinoma cardiac arrest cerebral artery occlusion cerebral degeneration cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia chronic obstructive pulmonary disease chylomicron retention disease communicating hydrocephalus corneal disease coronary artery disease cystic kidney disease dementia depressive disorder diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma double outlet right ventricle dysthymic disorder embryoma epilepsy essential hypertension giant cell glioblastoma glioblastoma glycine encephalopathy head and neck cancer head and neck squamous cell carcinoma hematologic cancer hemolytic anemia hepatocellular carcinoma high grade glioma hydrocephalus hyperglycemia hypertension intellectual disability invasive ductal carcinoma keratoconus kidney disease learning disability leukemia lipid storage disease liver cancer lung cancer lung non-small cell carcinoma macrocytic anemia major depressive disorder medulloblastoma medulloepithelioma melancholic depression multiple myeloma myelomeningocele narcolepsy neuroectodermal tumor neurotic disorder non-congenital cyst of kidney obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete melancholia obstructive hydrocephalus ovarian cancer ovarian carcinoma papillary adenocarcinoma papillary renal cell carcinoma pharyngitis pneumonia post-traumatic stress disorder progressive muscular atrophy psoriatic arthritis rheumatoid arthritis senile degeneration of brain sick sinus syndrome status epilepticus steatotic liver disease stomach cancer stomach carcinoma subacute delirium supratentorial primitive neuroectodermal tumor tethered spinal cord syndrome thyroid gland papillary carcinoma type 2 diabetes mellitus visual epilepsy
50	aconitase 2	ACO2 Aliases: ACONM aconitate hydratase, mitochondrial mitochondrial aconitase	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 Crohn's colitis Crohn's disease Foster-Kennedy syndrome Friedreich ataxia 1 Friedreich ataxia Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome X-linked nonsyndromic deafness achromatopsia acquired color blindness adult respiratory distress syndrome autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness bipolar disorder blue color blindness breast cancer breast carcinoma cancer central nervous system disease cerebral degeneration clear cell renal cell carcinoma color blindness colorectal cancer colorectal carcinoma congenital nystagmus cystic fibrosis demyelinating polyneuropathy dissociated nystagmus dominant optic atrophy plus syndrome embryoma epilepsy fumarase deficiency fundus dystrophy hepatocellular carcinoma hypertropia idiopathic interstitial pneumonia infantile cerebellar-retinal degeneration inflammatory bowel disease 1 inflammatory bowel disease insulinoma kidney cancer large intestine cancer lingual-facial-buccal dyskinesia liver cancer mechanical strabismus mitochondrial DNA depletion syndrome movement disease multiple sclerosis neurodegenerative disease newborn respiratory distress syndrome nutritional optic neuropathy obsolete autosomal recessive nonsyndromic deafness 105 ophthalmoplegia optic atrophy 1 optic atrophy 9 optic atrophy optic nerve disease pathologic nystagmus postinflammatory pulmonary fibrosis prostate cancer prostate carcinoma pulmonary fibrosis red color blindness red-green color blindness renal carcinoma renal cell carcinoma schizophrenia spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ulcerative colitis visual epilepsy visual pathway disease
1586	cytochrome P450 family 17 subfamily A member 1	CYP17A1 Aliases: CPT7 P450C17 S17AH Steroid 17-alpha-monooxygenase	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 B-cell lymphoma Barrett's esophagus Bartter disease Clouston syndrome Conn's syndrome Down syndrome Froelich syndrome Kallmann syndrome Langerhans-cell histiocytosis Laron syndrome Liddle syndrome Lynch syndrome Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sertoli cell-only syndrome Sheehan syndrome Waterhouse-Friderichsen syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal cortical hypofunction adrenal gland cancer adrenal gland hyperfunction adrenocortical carcinoma adult lymphoma alopecia amenorrhea androgenic alopecia anorexia nervosa anxiety disorder aortic valve insufficiency arteriosclerotic cardiovascular disease atherosclerosis autoimmune hepatitis autosomal dominant familial periodic fever biliary tract cancer brain cancer breast cancer breast carcinoma breast disease breast fibroadenoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cerebral degeneration childhood lymphoma cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chronic fatigue syndrome clear cell renal cell carcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital adrenal hyperplasia coronary artery disease coronary thrombosis cribriform carcinoma cryptorchidism depressive disorder diabetes mellitus diffuse large B-cell lymphoma disorder of sexual development embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis essential hypertension female breast carcinoma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma granulosa cell tumor gynecomastia hepatitis B hepatitis C hepatitis hepatocellular carcinoma hermaphroditism herpes zoster high grade glioma hyperandrogenism hyperinsulinism hypertension hypertrophy of breast hypoactive sexual desire disorder 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 24 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 hypokalemia hypopituitarism hypospadias hypothalamic disease inclusion body myositis infant gynecomastia infertility intrahepatic cholangiocarcinoma 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 kidney cancer lactocele large intestine cancer leiomyoma lesion of sciatic nerve lingual-facial-buccal dyskinesia liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder male breast cancer male infertility malignant hypertension melancholic depression microcystic adenoma microglandular adenosis mixed germ cell cancer mixed glioma multiple sclerosis myelitis myocardial infarction myofibroma neuropathy nodular prostate non-Hodgkin lymphoma nutmeg liver obsolete Cushing's syndrome obsolete melancholia obsolete ymphosarcoma oligospermia osteoporosis ovarian cancer ovarian carcinoma ovarian cyst pancreatic cancer pancreatic carcinoma pancreatitis panhypopituitarism papillary adenoma peripheral nervous system disease peroxisome biogenesis disorder 4A phobic disorder placental insufficiency polycystic ovary syndrome polyneuropathy primary failure of tooth eruption primary hyperaldosteronism primary ovarian insufficiency prostate cancer prostate carcinoma prostate disease prostatic adenoma pseudohermaphroditism rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma sciatic neuropathy seminoma silent myocardial infarction situs inversus spondyloarthropathy spondylosis steatotic liver disease testicular cancer testicular germ cell cancer testis seminoma thymus gland disease trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus uterine corpus cancer uterine fibroid
7915	aldehyde dehydrogenase 5 family member A1	ALDH5A1 Aliases: SSADH SSDH succinate-semialdehyde dehydrogenase	Homo sapiens (human)	Crohn's colitis Crohn's disease Rett syndrome X-linked dystonia-parkinsonism Zika fever age related macular degeneration agnosia anxiety disorder autistic disorder carcinoma degeneration of macula and posterior pole developmental coordination disorder dystonia 12 dystonia 16 dystonia 21 dystonia 25 dystonia 27 dystonia 5 dystonia epilepsy focal dystonia focal hand dystonia generalized anxiety disorder generalized dystonia generalized epilepsy with febrile seizures plus hypertropia idiopathic generalized epilepsy inflammatory bowel disease 1 inflammatory bowel disease intellectual disability juvenile myoclonic epilepsy learning disability lingual-facial-buccal dyskinesia macular degeneration mechanical strabismus movement disease myoclonic dystonia 11 ophthalmoplegia ovarian cancer ovarian carcinoma psychotic disorder schizoaffective disorder schizophreniform disorder status epilepticus strabismus succinic semialdehyde dehydrogenase deficiency syndromic X-linked intellectual disability 94 torsion dystonia 13 torsion dystonia 17 torsion dystonia 1 torsion dystonia 2 torsion dystonia 4 torsion dystonia 6 torsion dystonia with onset in infancy tuberculosis ulcerative colitis visual epilepsy
670	biphenyl hydrolase like	BPHL Aliases: Bph-rp VACVase breast epithelial mucin-associated antigen valacyclovir hydrolase	Homo sapiens (human)	bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer childhood leukemia childhood osteosarcoma colon carcinoma colorectal cancer embryoma leukemia lung benign neoplasm lung cancer lung carcinoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
7841	mannosyl-oligosaccharide glucosidase	MOGS Aliases: CWH41 DER7 GCS1 glucosidase I processing A-glucosidase I	Homo sapiens (human)	Japanese encephalitis Turner syndrome Zika fever acquired hyperkeratosis actinic keratosis acute lymphoblastic leukemia acute myeloid leukemia adamantinoma agammaglobulinemia ameloblastoma blepharophimosis bronchus cancer bronchus carcinoma cancer cerebral degeneration chronic monocytic leukemia chronic myelomonocytic leukemia congenital disorder of glycosylation In congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation type IIb congenital disorder of glycosylation cystic fibrosis dengue disease epilepsy gonadal dysgenesis holoprosencephaly 1 holoprosencephaly juvenile myelomonocytic leukemia keratoacanthoma lung benign neoplasm lung cancer lung carcinoma lymphoblastic lymphoma malaria melanoma obesity optic atrophy pleomorphic xanthoastrocytoma sensorineural hearing loss skin melanoma viral infectious disease visual epilepsy yellow fever
22908	SAC1 like phosphatidylinositide phosphatase	SACM1L Aliases: KIAA0851 SAC1	Homo sapiens (human)	IgA glomerulonephritis T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia adult T-cell leukemia/lymphoma brain infarction breast cancer carotid artery thrombosis carotid stenosis cerebral infarction cerebrovascular disease coronary artery disease diabetes mellitus diabetic ketoacidosis epilepsy essential hypertension glomerulonephritis hemophilia B hypertension kidney disease lymphoblastic lymphoma maturity-onset diabetes of the young nephritis nephrosis obsolete T-cell lymphoblastic leukemia/lymphoma pyoureter rheumatoid arthritis type 2 diabetes mellitus visual epilepsy von Willebrand's disease 3 von Willebrand's disease
8864	period circadian regulator 2	PER2	Homo sapiens (human)	advanced sleep phase syndrome 1 advanced sleep phase syndrome cocaine dependence
6472	serine hydroxymethyltransferase 2	SHMT2 Aliases: mSHMT mitochondrial serine hydroxymethyltransferase	Homo sapiens (human)	B-cell lymphoma Down syndrome Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease alcohol use disorder anemia arthritis arthropathy autistic disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cholangiocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma gastrointestinal system cancer gliosarcoma head and neck squamous cell carcinoma hepatitis B hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis intrahepatic cholangiocarcinoma large intestine cancer liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma macrocytic anemia mixed glioma neuroblastoma non-Hodgkin lymphoma obsolete ymphosarcoma osteoarthritis prostate cancer prostate carcinoma reticulosarcoma schizophrenia stomach cancer stomach carcinoma

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