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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

Search results for "glycosyltransferase activity"

Displaying entries **76 - 100** of **140293** in total

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Gene ID ▲	Gene Name	Gene Symbol	Organism	Disease Ontology
7372	uridine monophosphate synthetase	UMPS Aliases: orotate phosphoribosyl transferase and orotidine-5'-decarboxylase	Homo sapiens (human)	Diamond-Blackfan anemia Gilbert syndrome agranulocytosis anemia basal cell carcinoma beta thalassemia bile duct adenocarcinoma bile duct carcinoma bilirubin metabolic disorder bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carbamoyl phosphate synthetase I deficiency disease carcinoma carpal tunnel syndrome cholangiocarcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypoplastic anemia coronary artery disease diarrhea disease of metabolism embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma gastrointestinal system cancer gonorrhea hepatocellular carcinoma hereditary spherocytosis intellectual disability intrahepatic cholangiocarcinoma large intestine cancer learning disability leukopenia liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia malaria megaloblastic anemia neutropenia orotic aciduria pancreatic cancer pancreatic carcinoma patent ductus arteriosus prostate cancer prostate carcinoma prostatic adenoma purine-pyrimidine metabolic disorder rectal benign neoplasm rectum adenocarcinoma rectum cancer sarcomatoid carcinoma sebaceous carcinoma severe congenital neutropenia sickle cell anemia squamous cell carcinoma stomach cancer stomach carcinoma sweat gland cancer thalassemia tongue squamous cell carcinoma tuberculosis urinary bladder cancer
7378	uridine phosphorylase 1	UPP1 Aliases: UDRPASE UPASE UPP	Homo sapiens (human)	Stevens-Johnson syndrome allergic contact dermatitis breast cancer cancer colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy embryoma esophagus squamous cell carcinoma giardiasis large intestine cancer lung adenoma middle cerebral artery infarction placental insufficiency stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma tuberculosis type 2 diabetes mellitus
7903	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	ST8SIA4 Aliases: PST PST1 ST8Sia IV	Homo sapiens (human)	Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Norum disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Tangier disease abetalipoproteinemia acne acute pancreatitis adrenoleukodystrophy alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alternating hemiplegia of childhood anal carcinoma in situ anaplastic astrocytoma ankylosing spondylitis arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy breast cancer breast carcinoma bronchus cancer bronchus carcinoma bulimia nervosa cancer carcinoma carotid artery thrombosis carotid stenosis central nervous system disease cerebral infarction cerebrovascular disease cervix uteri carcinoma in situ childhood cerebral astrocytoma childhood leukemia cholecystolithiasis choledocholithiasis cholelithiasis choreaacanthocytosis chromophobe renal cell carcinoma chronic kidney disease chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma complement deficiency coronary artery disease depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diarrhea dysthymic disorder embryoma esophageal cancer esophageal carcinoma essential hypertension fibrillary astrocytoma fragile X syndrome gallbladder cancer gallbladder carcinoma gallbladder disease gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis gyrate atrophy hepatocellular carcinoma hereditary spherocytosis high grade glioma hypertension hypolipoproteinemia hypoparathyroidism juvenile pilocytic astrocytoma kidney disease large intestine cancer laryngeal squamous cell carcinoma leukemia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma major depressive disorder malignant astrocytoma melancholic depression muscular dystrophy myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephritis nervous system disease neuroblastoma neurotic disorder nonpapillary renal cell carcinoma nutmeg liver obsolete melancholia pancreatitis papillary renal cell carcinoma papilloma periodontitis pilocytic astrocytoma pneumonia prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohypoparathyroidism renal carcinoma renal cell carcinoma rhabdomyosarcoma rhinitis sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sinusitis squamous cell carcinoma squamous cell papilloma steatotic liver disease subependymal giant cell astrocytoma substance abuse substance-related disorder systemic lupus erythematosus thyroid gland follicular carcinoma tongue squamous cell carcinoma type 2 diabetes mellitus uveoparotid fever
7957	EPM2A glucan phosphatase, laforin	EPM2A Aliases: LD LDE	Homo sapiens (human)	Alzheimer's disease Balo concentric sclerosis Dravet syndrome Lafora disease MERRF syndrome Rett syndrome Unverricht-Lundborg syndrome adrenoleukodystrophy adult lymphoma agnosia alexia apraxia benign epilepsy with centrotemporal spikes blepharospasm blindness cancer central nervous system disease central nervous system lymphoma cerebral degeneration childhood lymphoma cystinuria dementia dentatorubral-pallidoluysian atrophy depressive disorder dyslexia dysthymic disorder early myoclonic encephalopathy embryoma endometrial carcinoma epilepsy focal hand dystonia 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 intellectual disability learning disability lymphoma major depressive disorder melancholic depression narcolepsy neurodegenerative 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 non-syndromic X-linked intellectual disability obsolete Dravet syndrome obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma photosensitive epilepsy photosensitivity disease progressive myoclonus epilepsy 1A progressive myoclonus epilepsy 4 progressive myoclonus epilepsy psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder status epilepticus
8128	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	ST8SIA2 Aliases: HsT19690 ST8SIA-II STX	Homo sapiens (human)	adenocarcinoma adenoma allergic rhinitis anaplastic astrocytoma autism spectrum disorder autistic disorder bipolar disorder breast cancer breast carcinoma cancer childhood cerebral astrocytoma colitis cribriform carcinoma diarrhea disease of mental health embryoma epilepsy fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma granular cell carcinoma hemolytic-uremic syndrome high grade glioma ileitis ileocolitis intestinal infectious disease juvenile pilocytic astrocytoma lung cancer lung non-small cell carcinoma malignant astrocytoma mood disorder neuroblastoma pilocytic astrocytoma protoplasmic astrocytoma psychotic disorder rhabdomyosarcoma schizophrenia shigellosis subependymal giant cell astrocytoma tubular adenocarcinoma vasomotor rhinitis
8473	O-linked N-acetylglucosamine (GlcNAc) transferase	OGT Aliases: FLJ23071 HRNT1 MGC22921 O-GLCNAC OGT1 UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome Zollinger-Ellison syndrome amblyopia aortic valve disease 2 aortic valve stenosis autoimmune hepatitis breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration chromophobe renal cell carcinoma chronic ulcer of skin clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congenital nystagmus congestive heart failure cryptorchidism diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diffuse large B-cell lymphoma dissociated nystagmus embryoma heart disease hepatitis C hepatocellular carcinoma hyperinsulinism hypospadias intellectual disability large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver cancer liver carcinoma liver cirrhosis microcephaly microphthalmia myoepithelioma neurodegenerative disease non-syndromic X-linked intellectual disability 106 nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma pathologic nystagmus renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma spontaneous ocular nystagmus steatotic liver disease stomach cancer stomach carcinoma strabismic amblyopia tauopathy type 2 diabetes mellitus
8658	tankyrase	TNKS Aliases: ARTD5 PARP-5a PARP5A TIN1 TINF1 TNKS1 TRF1-interacting ankyrin-related ADP-ribose polymerase 1 pART5	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome Dubowitz 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 Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome acoustic neuroma acute myeloid leukemia adenocarcinoma adenoma adult hepatocellular carcinoma adult medulloblastoma amyotrophic lateral sclerosis anaplastic astrocytoma angiomatous meningioma arthritis arthropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome benign meningioma bladder carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral convexity meningioma cerebral infarction cerebrovascular disease cherubism childhood cerebral astrocytoma childhood hepatocellular carcinoma childhood medulloblastoma childhood osteosarcoma chondrodysplasia-pseudohermaphroditism syndrome clear cell meningioma cleft lip colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma depressive disorder embryoma exostosis familial adenomatous polyposis 1 familial adenomatous polyposis fibrillary astrocytoma fibrous meningioma gemistocytic astrocytoma giant cell glioblastoma glioblastoma granular cell carcinoma hepatocellular carcinoma herpes simplex high grade glioma inflammatory liposarcoma inherited metabolic disorder insulinoma intraorbital meningioma intraventricular meningioma islet cell tumor juvenile pilocytic astrocytoma large intestine cancer liver cancer lung acinar adenocarcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacyte-rich meningioma major depressive disorder malignant astrocytoma medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma meningioma meningothelial meningioma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic meningioma monoclonal gammopathy of uncertain significance multiple myeloma neuroblastoma neurotic disorder obesity obsolete melancholia olfactory groove meningioma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma parasagittal meningioma pilocytic astrocytoma pituitary adenoma progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma sarcomatoid carcinoma sclerosing liposarcoma secretory meningioma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tarsal-carpal coalition syndrome transitional cell carcinoma transitional meningioma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tubular adenocarcinoma urinary bladder cancer well-differentiated liposarcoma
8693	polypeptide N-acetylgalactosaminyltransferase 4	GALNT4 Aliases: GalNAc-T4 polypeptide GalNAc transferase 4	Homo sapiens (human)	acute chest syndrome arteriosclerotic cardiovascular disease atherosclerosis breast cancer cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease large intestine cancer prostate cancer prostate carcinoma
8702	beta-1,4-galactosyltransferase 4	B4GALT4 Aliases: beta4Gal-T4	Homo sapiens (human)	prostate cancer prostate carcinoma
8703	beta-1,4-galactosyltransferase 3	B4GALT3 Aliases: beta4Gal-T3	Homo sapiens (human)	bladder carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma colorectal cancer colorectal carcinoma embryoma large intestine cancer neuroblastoma primary open angle glaucoma urinary bladder cancer
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
8705	beta-1,3-galactosyltransferase 4	B3GALT4 Aliases: GalT4 beta3Gal-T4 ganglioside galactosyltransferase	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 Ehlers-Danlos syndrome Parkinson's disease Pick's disease Reye syndrome breast cancer cerebral degeneration colorectal cancer colorectal carcinoma large intestine cancer late onset Parkinson's disease osteogenesis imperfecta
8706	beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)	B3GALNT1 Aliases: B3GALANT1 GLOB P antigen synthase beta3Gal-T3 galT3 globoside synthase	Homo sapiens (human)	brain cancer cancer lung cancer lung non-small cell carcinoma pancreatic ductal adenocarcinoma
8707	beta-1,3-galactosyltransferase 2	B3GALT2 Aliases: beta3Gal-T2	Homo sapiens (human)
8708	beta-1,3-galactosyltransferase 1	B3GALT1 Aliases: beta3Gal-T1	Homo sapiens (human)	Peters plus syndrome adenocarcinoma adenoma cribriform carcinoma granular cell carcinoma tubular adenocarcinoma
8813	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	DPM1 Aliases: CDGIE DPM synthase complex, catalytic subunit MPDS	Homo sapiens (human)	Duchenne muscular dystrophy antithrombin III deficiency 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 capillary disease cavernous hemangioma chorioangioma congenital disorder of glycosylation Ie congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy facioscapulohumeral muscular dystrophy glomus tumor hemangioma hereditary hemorrhagic telangiectasia histiocytoid hemangioma intramuscular hemangioma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lymphangioma microcephaly muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 nonsyndromic congenital nail disorder 9 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 patent ductus arteriosus protein C deficiency protein S deficiency rippling muscle disease 2 telangiectasis thrombophilia
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
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
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
9215	LARGE xylosyl- and glucuronyltransferase 1	LARGE1 Aliases: KIAA0609 like-acetylglucosaminyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome achondroplasia acoustic neuroma agnosia amphetamine abuse angiomatous meningioma atypical chronic myeloid leukemia, BCR-ABL1 negative autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy benign meningioma bilateral optic nerve hypoplasia blindness buphthalmos cancer cataract centronuclear myopathy cerebral convexity meningioma chronic monocytic leukemia clear cell meningioma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy 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 A1 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibrous meningioma fundus albipunctatus fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertropia idiopathic scoliosis imperforate anus intellectual disability intraorbital meningioma intraventricular meningioma isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly liver cancer lymphoid leukemia lymphoplasmacyte-rich meningioma major depressive disorder mechanical strabismus megaconial type congenital muscular dystrophy megalocornea melancholic depression meningioma meningocele meningothelial meningioma microcephaly microcystic meningioma microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myeloid leukemia myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia 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 obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy olfactory groove meningioma ophthalmoplegia optic atrophy parasagittal meningioma pathologic nystagmus peripheral retinal degeneration pituitary adenoma pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 psammomatous meningioma recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rhabdomyosarcoma rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis secretory meningioma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spinal meningioma spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type transitional meningioma type 2 diabetes mellitus visual epilepsy
9245	glucosaminyl (N-acetyl) transferase 3, mucin type	GCNT3 Aliases: C2/4GnT C2GnT-M C2GnT2	Homo sapiens (human)	cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma embryoma hepatocellular carcinoma large intestine cancer liver cancer lung cancer lung non-small cell carcinoma melanoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma skin melanoma
9331	beta-1,4-galactosyltransferase 6	B4GALT6 Aliases: UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase beta4GalT-VI	Homo sapiens (human)	colorectal cancer colorectal carcinoma large intestine cancer multiple sclerosis skin disease
9334	beta-1,4-galactosyltransferase 5	B4GALT5 Aliases: beta4-GalT IV beta4GalT-V	Homo sapiens (human)	cancer central nervous system cancer colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis embryoma gliosarcoma high grade glioma large intestine cancer mixed glioma multiple sclerosis obesity type 2 diabetes mellitus
9488	phosphatidylinositol glycan anchor biosynthesis class B	PIGB Aliases: GPI mannosyltransferase 3 GPI-MT-III PIG-B dol-P-Man dependent GPI mannosyltransferase III	Homo sapiens (human)	axonal neuropathy developmental and epileptic encephalopathy 80 epilepsy intellectual disability learning disability sleeping sickness visual epilepsy
10038	poly(ADP-ribose) polymerase 2	PARP2 Aliases: ARTD2	Homo sapiens (human)	arteriosclerotic cardiovascular disease atherosclerosis azoospermia breast cancer breast carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 coronary artery disease diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma epithelioid malignant peripheral nerve sheath tumor esophageal cancer esophageal carcinoma hepatitis A hepatitis hepatocellular carcinoma lipoatrophic diabetes mellitus lipodystrophy liver cancer lymphopenia malignant peripheral nerve sheath tumor neurilemmoma neuroblastoma neurofibrosarcoma obesity peritoneal carcinoma prostate cancer prostate carcinoma rheumatoid arthritis steatotic liver disease type 2 diabetes mellitus

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