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 **826 - 850** of **1582** in total

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Gene ID ▼	Gene Name	Gene Symbol	Organism	Disease Ontology
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
9110	myotubularin related protein 4	MTMR4 Aliases: KIAA0647 ZFYVE11	Homo sapiens (human)	Charcot-Marie-Tooth disease anterior horn cell disease benign mesothelioma centronuclear myopathy X-linked herpes simplex malignant mesothelioma muscular atrophy
9108	myotubularin related protein 7	MTMR7	Homo sapiens (human)	Charcot-Marie-Tooth disease Creutzfeldt-Jakob disease cancer centronuclear myopathy X-linked centronuclear myopathy colorectal cancer colorectal carcinoma embryoma large intestine cancer
9107	myotubularin related protein 6	MTMR6	Homo sapiens (human)	Charcot-Marie-Tooth disease cancer centronuclear myopathy X-linked centronuclear myopathy
9104	regucalcin	RGN Aliases: RC SMP30 gluconolactonase senescence marker protein-30	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 Becker muscular dystrophy Duchenne muscular dystrophy Pick's disease Reye syndrome adenocarcinoma adenoma argininosuccinic aciduria 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 breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cataract cerebral degeneration cervical adenocarcinoma cervix carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma depressive disorder diarrhea distal myopathy dry eye syndrome dysthymic disorder embryoma endomyocardial fibrosis essential hypertension facioscapulohumeral muscular dystrophy familial hyperlipidemia gallbladder disease gastroenteritis glomerulonephritis granular cell carcinoma hepatitis B hepatitis hepatoblastoma hepatocellular carcinoma hypertension ileitis ileocolitis invasive ductal carcinoma kidney cancer kidney disease kidney failure large intestine cancer limb-girdle muscular dystrophy liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder male infertility melancholic depression muscular dystrophy nephritis nephrosis neuropathy neurotic disorder nonpapillary renal cell carcinoma obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia oculopharyngeal muscular dystrophy osteomalacia pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy prostate cancer prostate carcinoma pulmonary emphysema pyoureter renal carcinoma renal cell carcinoma rhabdomyosarcoma rickets sarcomatoid renal cell carcinoma scurvy stomach cancer tubular adenocarcinoma uremia vascular dementia vitelliform macular dystrophy xerophthalmia
9091	phosphatidylinositol glycan anchor biosynthesis class Q	PIGQ Aliases: GPI1 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q hGPI1	Homo sapiens (human)	Joubert syndrome Miller-Dieker lissencephaly syndrome Unverricht-Lundborg syndrome West syndrome acute myocardial infarction alternating exotropia aromatase excess syndrome arthritis arthropathy 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 basal ganglia disease blepharospasm cleft palate complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital nystagmus congenital ptosis coronary thrombosis cortical dysplasia-focal epilepsy syndrome developmental and epileptic encephalopathy 1 dissociated nystagmus dystonia early infantile epileptic encephalopathy early myoclonic encephalopathy epilepsy episodic ataxia exotropia focal hand dystonia hydranencephaly hydronephrosis hypertropia inguinal hernia intellectual disability intestinal volvulus isolated cleft palate learning disability lingual-facial-buccal dyskinesia lissencephaly mechanical strabismus microcephaly monocular exotropia multiple congenital anomalies-hypotonia-seizures syndrome 4 myocardial infarction obsolete infantile epileptic encephalopathy omphalocele ophthalmoplegia optic atrophy patent ductus arteriosus patent foramen ovale pathologic nystagmus pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary immunodeficiency disease ptosis pulmonary valve stenosis renal agenesis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly silent myocardial infarction spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability Najm type umbilical hernia ureterocele ventricular septal defect vesicoureteral reflux visual epilepsy
9061	3'-phosphoadenosine 5'-phosphosulfate synthase 1	PAPSS1 Aliases: ATPSK1 PAPSS adenylyl-sulfate kinase sulfate adenylyltransferase	Homo sapiens (human)	cancer embryoma hepatitis B hepatocellular carcinoma liver cancer lung cancer lung non-small cell carcinoma
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
9023	cholesterol 25-hydroxylase	CH25H	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 Balo concentric sclerosis Marfan syndrome Pick's disease Reye syndrome Zika fever adrenoleukodystrophy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis bacterial infectious disease central nervous system disease cerebral degeneration childhood leukemia chronic fatigue syndrome chronic obstructive pulmonary disease colitis coronary artery disease encephalitis encephalomyelitis familial hypercholesterolemia gastroenteritis giant cell glioblastoma glioblastoma hepatitis C high grade glioma ileitis ileocolitis leukemia melanoma microcephaly multiple sclerosis myelitis narcolepsy nervous system disease neuromyelitis optica osteoarthritis plasmacytoma polycythemia vera polycythemia pulmonary emphysema rabies situs inversus skin melanoma tuberous sclerosis type 2 diabetes mellitus
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
8985	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3	PLOD3 Aliases: LH3 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 lysyl hydroxlase 3	Homo sapiens (human)	bone disease bronchus cancer bronchus carcinoma cancer cartilage disease cataract central nervous system cancer central nervous system lymphoma clubfoot collagen disease congenital hypothyroidism connective tissue disease diaphragmatic eventration embryoma epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex Ogna type epidermolysis bullosa simplex with muscular dystrophy epidermolysis bullosa simplex epidermolysis bullosa esophageal cancer esophageal carcinoma gamma-glutamyl transpeptidase deficiency giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma hypothyroidism liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoma mixed glioma myopia myxedema nonsyndromic congenital nail disorder 9 obsolete ymphosarcoma placental insufficiency scoliosis sensorineural hearing loss thoracic aortic aneurysm
8972	maltase-glucoamylase	MGAM Aliases: MGA alpha-glucosidase	Homo sapiens (human)	Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 brachydactyly type C brachydactyly breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease chylomicron retention disease congenital disorder of glycosylation congenital muscular dystrophy coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 neuromuscular disease nutmeg liver obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete constipation obsolete melancholia oculopharyngeal muscular dystrophy progressive muscular atrophy prolactinoma punctate palmoplantar keratoderma type III rippling muscle disease 2 squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease yellow fever
8930	methyl-CpG binding domain 4, DNA glycosylase	MBD4 Aliases: MED1	Homo sapiens (human)	Evans' syndrome Hantavirus hemorrhagic fever with renal syndrome Marinesco-Sjogren syndrome abdominal aortic aneurysm achromatopsia acquired color blindness acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma aortic aneurysm autistic disorder autoimmune thrombocytopenic purpura biliary atresia bladder carcinoma blue color blindness breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma colon cancer colon carcinoma colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma cribriform carcinoma disease of metabolism embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma follicular adenoma gastrointestinal system cancer gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma microcystic adenoma mixed glioma osteomyelitis papillary adenoma primary cerebellar degeneration red color blindness red-green color blindness rheumatoid arthritis sarcomatoid carcinoma scleroderma stomach cancer stomach carcinoma systemic lupus erythematosus systemic scleroderma temporal arteritis thrombocytopenia due to platelet alloimmunization thrombocytopenia tubular adenocarcinoma urinary bladder cancer uterine corpus cancer uveal melanoma
8908	glycogenin 2	GYG2 Aliases: GN-2 glycogenin glucosyltransferase	Homo sapiens (human)	Leigh disease cystinuria galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease
8898	myotubularin related protein 2	MTMR2 Aliases: KIAA1073 phosphatidylinositol-3-phosphatase phosphoinositide-3-phosphatase	Homo sapiens (human)	Bell's palsy Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease agenesis of the corpus callosum with peripheral neuropathy agnosia axonal neuropathy cancer centronuclear myopathy X-linked centronuclear myopathy clubfoot congenital structural myopathy demyelinating polyneuropathy developmental coordination disorder facial nerve disease facial paralysis familial periodic paralysis glaucoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 motor peripheral neuropathy myopathy neurodegenerative disease neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease polyneuropathy scoliosis sensory peripheral neuropathy stomach cancer stomach carcinoma
8897	myotubularin related protein 3	MTMR3 Aliases: FYVE-DSP1 KIAA0371 ZFYVE10	Homo sapiens (human)	Charcot-Marie-Tooth disease Crohn's colitis Crohn's disease IgA glomerulonephritis acute myeloid leukemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer centronuclear myopathy X-linked cleft lip cleft palate colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma dental caries dentin caries diabetes mellitus embryoma gliosarcoma herpes simplex high grade glioma inflammatory bowel disease 1 inflammatory bowel disease isolated cleft palate large intestine cancer lung benign neoplasm lung cancer lung carcinoma mixed glioma rheumatoid arthritis stomach cancer stomach carcinoma systemic lupus erythematosus type 2 diabetes mellitus ulcerative colitis
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
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
8876	vanin 1	VNN1 Aliases: Tiff66 pantetheinase pantetheine hydrolase	Homo sapiens (human)	B-cell lymphoma Evans' syndrome Fanconi syndrome allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis autoimmune thrombocytopenic purpura cancer cardiovascular system disease celiac disease chronic kidney disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease cystinosis disease of metabolism embryoma essential hypertension gastroenteritis heart disease hydronephrosis hypertension ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma large intestine cancer malaria obsolete ymphosarcoma obstructive nephropathy pancreatic ductal adenocarcinoma parapsoriasis psoriasis pustulosis of palm and sole renal osteodystrophy spondyloepimetaphyseal dysplasia, Sponastrime type steatotic liver disease ulcerative colitis ureteral obstruction
8875	vanin 2	VNN2 Aliases: FOAP-4 GPI-80 pantetheinase	Homo sapiens (human)	Fanconi syndrome atopic dermatitis bone osteosarcoma cancer cystinosis disease of metabolism embryoma giant cell glioblastoma glioblastoma high grade glioma malaria osteosarcoma parapsoriasis psoriasis pustulosis of palm and sole spondyloepimetaphyseal dysplasia, Sponastrime type
8871	synaptojanin 2	SYNJ2 Aliases: INPP5H inositol polyphosphate-5-phosphatase H phosphoinositide 5-phosphatase synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2	Homo sapiens (human)	Down syndrome Duchenne muscular dystrophy Joubert syndrome 1 Joubert syndrome Parkinson's disease amyotrophic lateral sclerosis 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 breast cancer bronchus cancer bronchus carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital muscular dystrophy depressive disorder distal myopathy early-onset Parkinson's disease facioscapulohumeral muscular dystrophy giant cell glioblastoma glioblastoma large intestine cancer limb-girdle muscular dystrophy lung cancer lung carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy progressive muscular atrophy rippling muscle disease 2
8870	immediate early response 3	IER3	Homo sapiens (human)	T-cell non-Hodgkin lymphoma
8869	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	ST3GAL5 Aliases: SIATGM3S ST3GalV ganglioside GM3 synthase lactosylceramide alpha-2,3-sialyltransferase	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome Niemann-Pick disease type C1 Niemann-Pick disease Rett syndrome SPOAN syndrome Troyer syndrome Unverricht-Lundborg syndrome agnosia arthritis arthropathy blepharospasm blindness cerebral palsy congenital nystagmus developmental and epileptic encephalopathy 36 dissociated nystagmus dystonia early myoclonic encephalopathy endocrine exophthalmos focal hand dystonia hemiplegia hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia intellectual disability learning disability lingual-facial-buccal dyskinesia liver cancer locked-in syndrome microcephaly optic atrophy paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia 2 pathologic nystagmus quadriplegia salt and pepper syndrome sensorineural hearing loss spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus status epilepticus stereotypic movement disorder syndromic X-linked intellectual disability 94 thromboangiitis obliterans trichohepatoenteric syndrome 1 trichohepatoenteric syndrome visual epilepsy
8867	synaptojanin 1	SYNJ1 Aliases: INPP5G PARK20 inositol polyphosphate-5-phosphatase G phosphoinositide 5-phosphatase synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Creutzfeldt-Jakob disease Down syndrome Duchenne muscular dystrophy Joubert syndrome 1 Joubert syndrome Laron syndrome Parkinson's disease 19A Parkinson's disease 1 Parkinson's disease 20 Parkinson's disease 23 Parkinson's disease 2 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Unverricht-Lundborg syndrome achondroplasia amnestic disorder amyotrophic lateral sclerosis anodontia attention deficit hyperactivity disorder autistic disorder 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 bipolar disorder blepharospasm blindness borderline personality disorder brain disease cerebral degeneration cone-rod dystrophy congenital muscular dystrophy congenital nystagmus congenital ptosis dementia developmental and epileptic encephalopathy 1 developmental and epileptic encephalopathy 53 dissociated nystagmus distal myopathy dystonia early infantile epileptic encephalopathy early myoclonic encephalopathy early-onset Parkinson's disease epilepsy esophagitis facioscapulohumeral muscular dystrophy focal hand dystonia fundus albipunctatus gastroesophageal reflux disease giant cell glioblastoma glioblastoma high grade glioma intellectual disability intermittent explosive disorder isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia locked-in syndrome microcephaly muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 neuroblastoma neurodegenerative disease 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 infantile epileptic encephalopathy oculopharyngeal muscular dystrophy optic atrophy pathologic nystagmus peptic esophagitis progressive muscular atrophy ptosis quadriplegia retinal degeneration retinitis pigmentosa retrograde amnesia rhabdomyosarcoma rippling muscle disease 2 scoliosis secondary Parkinson disease spontaneous ocular nystagmus status epilepticus tauopathy tooth agenesis visual epilepsy
8864	period circadian regulator 2	PER2	Homo sapiens (human)	advanced sleep phase syndrome 1 advanced sleep phase syndrome cocaine dependence

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