GlyCosmos Portal

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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

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

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Gene ID	Gene Name	Gene Symbol	Organism ▲	Disease Ontology
1890	thymidine phosphorylase	TYMP Aliases: gliostatin	Homo sapiens (human)	Barrett's esophagus Kallmann syndrome Leigh disease Sheehan syndrome adenocarcinoma adenoma anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis basal cell carcinoma benign mesothelioma bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood cerebral astrocytoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common bile duct neoplasm congenital ptosis coronary artery disease cribriform carcinoma diabetes mellitus diarrhea ductal carcinoma in situ embryoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis esophagus adenocarcinoma esophagus squamous cell carcinoma fibrillary astrocytoma gallbladder cancer gallbladder carcinoma gastrointestinal system cancer gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma heart disease hepatic veno-occlusive disease hepatocellular carcinoma high grade glioma hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism inherited metabolic disorder intellectual disability isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency juvenile pilocytic astrocytoma kwashiorkor large intestine cancer learning disability leukodystrophy liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma malignant astrocytoma malignant mesothelioma marasmus mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome 8b mitochondrial encephalomyopathy mitochondrial metabolism disease mitochondrial myopathy mixed glioma multiple myeloma nasopharynx carcinoma neuroblastoma neuropathy nonpapillary renal cell carcinoma nutrition disease ophthalmoplegia oropharynx cancer ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal carcinoma panhypopituitarism papillary adenocarcinoma papillary renal cell carcinoma paraganglioma peripheral nervous system disease peritoneal carcinoma pilocytic astrocytoma polyneuropathy prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma ptosis rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma seminoma serous cystadenocarcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma teratoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tropical sprue tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer
284098	phosphatidylinositol glycan anchor biosynthesis class W	PIGW Aliases: FLJ37433 GPI-anchored wall protein transfer 1 homolog (S. cerevisiae) Gwt1 PIG-W	Homo sapiens (human)	Cogan syndrome Hirschsprung's disease Unverricht-Lundborg syndrome West syndrome alternating hemiplegia of childhood autonomic neuropathy blepharospasm capillary disease central nervous system disease congenital diaphragmatic hernia craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hyperphosphatasia with impaired intellectual development syndrome 5 intellectual disability learning disability monocular esotropia nervous system disease obsolete infantile epileptic encephalopathy oligohydramnios pneumonia scoliosis syndromic X-linked intellectual disability 94 telangiectasis visual epilepsy
22925	phospholipase A2 receptor 1	PLA2R1 Aliases: CLEC13C PLA2-R PLA2G1R PLA2IR	Homo sapiens (human)	IgA glomerulonephritis T-cell acute lymphoblastic leukemia Werner syndrome acute biphenotypic leukemia acute leukemia acute myeloid leukemia adrenoleukodystrophy allergic asthma asthma autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer cardiac arrest childhood leukemia chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma embryoma essential thrombocythemia familial nephrotic syndrome focal segmental glomerulosclerosis glomerulonephritis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease interstitial nephritis intrinsic asthma kidney cancer kidney disease leukemia lipoid nephrosis lupus erythematosus lupus nephritis membranous glomerulonephritis myelodysplastic syndrome nephritis nephrosis nephrotic syndrome nonpapillary renal cell carcinoma papillary renal cell carcinoma progeria prostate cancer prostate carcinoma pyelitis pyelonephritis pyoureter renal carcinoma renal cell carcinoma renal infectious disease sarcomatoid renal cell carcinoma substance abuse substance-related disorder systemic lupus erythematosus thyroid adenoma thyroid cancer thyroid gland carcinoma
64090	galactose-3-O-sulfotransferase 2	GAL3ST2 Aliases: GP3ST	Homo sapiens (human)	Crohn's colitis Crohn's disease ankylosing spondylitis ascending cholangitis cholangitis inflammatory bowel disease 1 inflammatory bowel disease parapsoriasis primary sclerosing cholangitis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole sclerosing cholangitis suppurative cholangitis ulcerative colitis
128869	phosphatidylinositol glycan anchor biosynthesis class U	PIGU Aliases: GAB1 GPI and Actin Bar homolog (S. cerevisiae) GPI transamidase subunit PIGU PIG-U bA346K17.2	Homo sapiens (human)	bladder carcinoma breast cancer breast carcinoma cancer carcinoma cerebral degeneration colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma differentiated thyroid gland carcinoma dysplastic nevus syndrome embryoma epilepsy hepatocellular carcinoma intellectual disability large intestine cancer learning disability liver cancer melanoma nasopharynx carcinoma papillary carcinoma sarcomatoid carcinoma scoliosis skin benign neoplasm skin cancer skin melanoma urinary bladder cancer visual epilepsy
53942	contactin 5	CNTN5 Aliases: NB-2 hNB-2	Homo sapiens (human)	Behcet's disease Hirschsprung's disease Parkinson's disease 2 anorexia nervosa atrial fibrillation attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar disorder communicating hydrocephalus congestive heart failure depressive disorder differentiated thyroid gland carcinoma essential hypertension gout hydrocephalus hypertension major depressive disorder melancholic depression neurotic disorder obsolete melancholia obstructive hydrocephalus primary biliary cholangitis schizophrenia senile degeneration of brain
3339	heparan sulfate proteoglycan 2	HSPG2 Aliases: PRCAN endorepellin perlecan perlecan proteoglycan	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Balkan nephropathy Bethlem myopathy Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 HELLP syndrome IgA glomerulonephritis Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Norum disease Ollier disease Peters anomaly Pick's disease Prader-Willi syndrome Reye syndrome Richter's syndrome Robinow syndrome Schwartz-Jampel syndrome 1 Seckel syndrome Silver-Russell syndrome Silverman-Handmaker type dyssegmental dysplasia Stevens-Johnson syndrome Tangier disease Werdnig-Hoffmann disease X-linked Aarskog syndrome X-linked spondyloepiphyseal dysplasia tarda abdominal obesity-metabolic syndrome 1 abetalipoproteinemia achondroplasia acute promyelocytic leukemia adenoid cystic carcinoma adenoma adrenoleukodystrophy adult fibrosarcoma adult oligodendroglioma age related macular degeneration alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis ameloblastoma amyloidosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive Robinow syndrome autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy autosomal recessive osteopetrosis 7 benign mastocytoma bipolar disorder blepharophimosis blepharospasm blindness brain stem infarction breast cancer bronchus cancer bronchus carcinoma cancer carcinoma carotid artery disease cataract central nervous system cancer cerebral amyloid angiopathy cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood oligodendroglioma childhood spinal muscular atrophy cholangiocarcinoma chondrocalcinosis chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma choreaacanthocytosis chronic lymphocytic leukemia chronic myeloid leukemia cleft palate cleidocranial dysplasia clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congestive heart failure cornea plana coronary artery disease cystic fibrosis degeneration of macula and posterior pole dextro-looped transposition of the great arteries diabetes mellitus diabetic ketoacidosis disease of mental health distal myopathy embryoma enthesopathy epidermolysis bullosa epilepsy erythema multiforme esophageal cancer esophageal carcinoma exostosis extracutaneous mastocytoma facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial hypercholesterolemia familial hyperlipidemia familial nephrotic syndrome fibromyalgia fibrosarcoma focal hand dystonia follicular adenoma fragile X syndrome gallbladder cancer gallbladder carcinoma gas gangrene generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis hepatitis B hepatitis C hepatitis E hepatoblastoma hepatocellular carcinoma hereditary multiple exostoses high grade glioma humeroradial synostosis hydranencephaly hypereosinophilic syndrome hyperglycemia hypertension hypolipoproteinemia immune system disease in situ carcinoma interstitial nephritis intracranial aneurysm intrahepatic cholangiocarcinoma isolated cleft palate isolated ectopia lentis isolated elevated serum creatine phosphokinase levels juvenile spinal muscular atrophy kidney disease kidney failure large intestine cancer leech infestation limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoid nephrosis lissencephaly liver cancer liver carcinoma liver cirrhosis low compliance bladder lung cancer lung carcinoma lupus erythematosus lupus nephritis macular degeneration malignant epithelial mesothelioma malignant hyperthermia mast cell neoplasm mastocytosis melanoma membranous glomerulonephritis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcystic adenoma mixed glioma mixed oligodendroglioma-astrocytoma mucopolysaccharidosis IV multiple epiphyseal dysplasia multiple types of congenital heart defects 6 muscular dystrophy musculoskeletal system disease myiasis myopia myositis myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephritis nephrolithiasis nephrosis nephrotic syndrome type 1 nephrotic syndrome nutmeg liver obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete dextro-looped transposition of the great arteries 1 obsolete type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy oligodendroglioma osteoarthritis osteochondrodysplasia osteopetrosis osteoporosis osteosclerosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenoma papillary carcinoma periarthritis polyhydramnios pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pre-eclampsia primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma proximal symphalangism pseudosarcomatous fibromatosis psychotic disorder pyelitis pyelonephritis pyoureter radioulnar synostosis renal infectious disease salivary gland adenoid cystic carcinoma sarcomatoid carcinoma schizophrenia scleroderma scoliosis short-rib thoracic dysplasia 14 with polydactyly sick sinus syndrome skin melanoma spermatic cord torsion spinal muscular atrophy squamous cell carcinoma steatotic liver disease syndromic X-linked intellectual disability Najm type systemic lupus erythematosus systemic scleroderma tendinitis thanatophoric dysplasia thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma toxic shock syndrome toxoplasmosis tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia uric acid nephrolithiasis urticaria pigmentosa uveal melanoma
387712	enolase 4	ENO4 Aliases: AC023283.3	Homo sapiens (human)	male infertility
54956	poly(ADP-ribose) polymerase family member 16	PARP16 Aliases: ARTD15 FLJ20509 FLJ25281 pART15	Homo sapiens (human)
135152	beta-1,3-glucuronyltransferase 2	B3GAT2 Aliases: GlcAT-S galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 glucuronosyltransferase S	Homo sapiens (human)	Barrett's esophagus schizophrenia thrombophilia
55997	cryptic, EGF-CFC family member 1	CFC1 Aliases: CRYPTIC	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 Langerhans-cell histiocytosis Marfan syndrome Pick's disease Reye syndrome aromatase excess syndrome arteriosclerotic cardiovascular disease 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 atrioventricular septal defect autoimmune hepatitis biliary atresia cancer cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome cardiovascular system disease cerebral degeneration congenital adrenal hyperplasia congenital heart disease coronary artery disease dextro-looped transposition of the great arteries disease of metabolism double outlet right ventricle embryoma essential thrombocythemia gallbladder disease gastric adenocarcinoma gastrointestinal system cancer heart disease hepatitis liver disease lymphoma malaria multiple types of congenital heart defects 6 myelodysplastic syndrome neuroblastoma non-Hodgkin lymphoma obsolete dextro-looped transposition of the great arteries 1 obsolete ymphosarcoma patent foramen ovale reticulosarcoma right atrial isomerism schizophrenia situs inversus tuberculosis tuberous sclerosis visceral heterotaxy
55624	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	POMGNT1 Aliases: FLJ20277 LGMD2O MGAT1.2 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase	Homo sapiens (human)	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Unverricht-Lundborg syndrome Walker-Warburg syndrome Zollinger-Ellison syndrome adult medulloblastoma agnosia autism spectrum 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 bilateral optic nerve hypoplasia blepharospasm blindness buphthalmos cardiomyopathy cataract centronuclear myopathy childhood medulloblastoma 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 A3 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness congenital structural myopathy cornea plana corneal disease cortical dysplasia-focal epilepsy syndrome cryptorchidism developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy early myoclonic encephalopathy endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis focal hand dystonia fundus albipunctatus fundus dystrophy giant cell glioblastoma glaucoma glioblastoma high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperinsulinism hypertrophic cardiomyopathy hypertropia hypogonadism intellectual disability isolated elevated serum creatine phosphokinase levels keratoconus learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus medulloblastoma medullomyoblastoma megaconial type congenital muscular dystrophy megalocornea melanotic medulloblastoma meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B3 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline myopathy neuroblastoma night blindness obesity obsolete asthenopia 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 ophthalmoplegia optic atrophy pathologic nystagmus peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal degeneration retinal detachment retinal disease retinitis pigmentosa retinitis rigid spine muscular dystrophy 1 rippling muscle disease 2 senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type type 2 diabetes mellitus visual epilepsy
8733	glycosylphosphatidylinositol anchor attachment 1	GPAA1 Aliases: GAA1 GPI transamidase subunit hGAA1	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 Cogan syndrome Friedreich ataxia 1 Friedreich ataxia Pick's disease Reye syndrome agnosia apraxia bladder carcinoma blindness breast cancer breast carcinoma cancer cerebral degeneration colorectal cancer colorectal carcinoma congenital nystagmus diffuse interstitial keratitis dissociated nystagmus embryoma epilepsy head and neck squamous cell carcinoma hepatocellular carcinoma intellectual disability large intestine cancer learning disability liver cancer liver cirrhosis myopia optic atrophy osteoporosis pathologic nystagmus spontaneous ocular nystagmus squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma tongue squamous cell carcinoma urinary bladder cancer visual epilepsy
9953	heparan sulfate-glucosamine 3-sulfotransferase 3B1	HS3ST3B1 Aliases: 30ST3B1 3OST3B1	Homo sapiens (human)	bladder carcinoma breast cancer endometriosis of ovary endometriosis of uterus endometriosis hepatitis B lung cancer lung non-small cell carcinoma pancreatic cancer pancreatic carcinoma urinary bladder cancer
58530	lymphocyte antigen 6 family member G6D	LY6G6D Aliases: G6D LY6-D Ly6-D MEGT1 NG25	Homo sapiens (human)	B-cell lymphoma Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma diabetic ketoacidosis large intestine cancer nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma 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
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
10462	C-type lectin domain containing 10A	CLEC10A Aliases: CD301 HML HML2 macrophage lectin 2 (calcium dependent)	Homo sapiens (human)	B-cell lymphoma Crohn's colitis Crohn's disease Ebola hemorrhagic fever acquired immunodeficiency syndrome acrodermatitis adenosquamous carcinoma adult lymphoma allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease asthma atopic dermatitis autosomal recessive distal hereditary motor neuronopathy 1 bipolar disorder breast cancer breast carcinoma cancer celiac disease central nervous system lymphoma centronuclear myopathy cervical adenocarcinoma cervical cancer cervix carcinoma childhood lymphoma cholesteatoma cholinergic urticaria congenital structural myopathy coronary artery disease dermatitis embryoma embryonal cancer germ cell and embryonal cancer germ cell cancer germinoma hepatocellular carcinoma human immunodeficiency virus infectious disease hypereosinophilic syndrome inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma lateral sclerosis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lymphoma melanoma motor neuron disease neurodegenerative disease obsolete malignant histiocytosis obsolete ymphosarcoma ovarian cancer ovarian carcinoma peripheral T-cell lymphoma polyp of middle ear progressive muscular atrophy prostate cancer prostate carcinoma rheumatoid arthritis schizophrenia skin melanoma squamous cell carcinoma teratocarcinoma tongue squamous cell carcinoma transient myeloproliferative syndrome tubular aggregate myopathy 1 ulcerative colitis viral infectious disease
9956	heparan sulfate-glucosamine 3-sulfotransferase 2	HS3ST2 Aliases: 3OST2	Homo sapiens (human)	adult lymphoma breast cancer bronchus cancer bronchus carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ colon cancer embryoma endometrial cancer endometrial carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma ovarian cancer ovarian carcinoma pancreatic cancer squamous cell carcinoma tongue squamous cell carcinoma uterine corpus cancer
84803	glycerol-3-phosphate acyltransferase 3	GPAT3 Aliases: AGPAT10 HMFN0839 LPAAT-theta MAG1 MGC11324 lysophosphatidic acid acyltransferase, theta	Homo sapiens (human)	acquired immunodeficiency syndrome acute myeloid leukemia breast cancer cancer endometritis human immunodeficiency virus infectious disease leech infestation myiasis obesity toxoplasmosis
100137049	phospholipase A2 group IVB	PLA2G4B Aliases: HsT16992 cPLA2-beta	Homo sapiens (human)	head and neck squamous cell carcinoma schizophrenia
4351	mannose phosphate isomerase	MPI Aliases: mannose-6-phosphate isomerase	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 acute myeloid leukemia acute myocardial infarction antithrombin III deficiency anxiety disorder arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant cerebellar ataxia autosomal recessive hypercholesterolemia autosomal recessive polycystic kidney disease blindness blood coagulation disease campomelic dysplasia cancer carbohydrate metabolic disorder cardiovascular system disease celiac disease central nervous system cancer cerebral degeneration chronic kidney disease congenital disorder of glycosylation Ia congenital disorder of glycosylation Ib congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation congestive heart failure coronary artery disease coronary thrombosis craniometaphyseal dysplasia cryptococcosis cystic fibrosis developmental and epileptic encephalopathy 36 diabetes mellitus diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy dry eye syndrome egg allergy elephantiasis embryoma epilepsy essential hypertension familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 gallbladder disease generalized anxiety disorder gliosarcoma heart disease hepatitis B high grade glioma hyperinsulinemic hypoglycemia hyperinsulinism hypertension hypoglycemia laryngeal disease liver cirrhosis liver disease lymphedema marasmus mixed glioma myocardial infarction neurotic disorder nutmeg liver obsolete inherited blood coagulation disease phobic disorder placental insufficiency polycystic kidney disease 4 post-traumatic stress disorder postpartum depression protein C deficiency protein S deficiency protein-losing enteropathy schizophrenia silent myocardial infarction spinocerebellar ataxia type 6 steatotic liver disease thrombocytopenia thrombophilia tracheal disease tropical sprue type 2 diabetes mellitus visual epilepsy xerophthalmia
22901	arylsulfatase G	ARSG Aliases: KIAA1001	Homo sapiens (human)	Usher syndrome type 2 Usher syndrome type 3 Usher syndrome type 3A Usher syndrome anxiety disorder astigmatism blepharospasm blindness cancer cataract cerebellar ataxia cerebellar disease congenital stationary night blindness 1A congenital stationary night blindness depressive disorder dysthymic disorder dystonia embryoma focal dystonia focal hand dystonia generalized anxiety disorder generalized dystonia lysosomal storage disease major depressive disorder melancholic depression metachromatic leukodystrophy mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis 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 night blindness obsolete melancholia peripheral retinal degeneration prostate cancer prostate carcinoma retinitis pigmentosa-deafness syndrome schizophrenia scotoma sensorineural hearing loss
10728	prostaglandin E synthase 3	PTGES3 Aliases: TEBP cPGES p23	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 Lyme disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adult fibrosarcoma alexia aortic valve insufficiency atherosclerosis autism spectrum disorder autistic disorder bone osteosarcoma breast cancer breast carcinoma cancer carcinoma cerebral degeneration childhood acute lymphocytic leukemia childhood osteosarcoma cribriform carcinoma cryptosporidiosis cystic fibrosis diarrhea dyslexia embryoma esophageal cancer esophageal carcinoma familial retinoblastoma fibrosarcoma granular cell carcinoma hepatitis C intrahepatic cholestasis of pregnancy lung adenocarcinoma lung cancer lung non-small cell carcinoma neurodegenerative disease oligodendroglioma osteosarcoma papillary adenocarcinoma papillary renal cell carcinoma periodontitis prostate cancer prostate carcinoma retinoblastoma sarcomatoid carcinoma schizophrenia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma toxic encephalopathy trilateral retinoblastoma tubular adenocarcinoma
1497	cystinosin, lysosomal cystine transporter	CTNS Aliases: CTNS-LSB PQLC4 SLC66A4	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 Fanconi anemia Fanconi syndrome Laron syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome achondroplasia androgen insensitivity syndrome anhidrosis 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 bacterial vaginosis bone disease cartilage disease cerebral degeneration cone-rod dystrophy connective tissue disease cystinosis diabetes mellitus diabetic ketoacidosis disease of metabolism distal myopathy eunuchism exocrine pancreatic insufficiency facioscapulohumeral muscular dystrophy fundus albipunctatus glomerulonephritis hypogonadism hypohidrosis hypokalemia hypophosphatemia kidney disease kidney failure limb-girdle muscular dystrophy lysosomal storage disease male infertility muscular dystrophy nephritis nephrolithiasis nephrosis obsolete asthenopia 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 oculopharyngeal muscular dystrophy osteomalacia premature menopause proteinuria pyoureter recurrent corneal erosion retinal disease retinitis pigmentosa retinitis rickets spondyloepimetaphyseal dysplasia, Sponastrime type uric acid nephrolithiasis vaginitis vulvitis vulvovaginitis
2650	glucosaminyl (N-acetyl) transferase 1	GCNT1 Aliases: C2GNT NAGCT2 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase core 2 beta1,6 N-acetylglucosaminyltransferase-I	Homo sapiens (human)	adenocarcinoma adenoma bronchus cancer bronchus carcinoma cancer carcinoma colorectal cancer colorectal carcinoma cribriform carcinoma embryoma granular cell carcinoma large intestine cancer lung benign neoplasm lung cancer lung carcinoma neuroblastoma pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma sarcomatoid carcinoma seminoma testicular cancer testicular germ cell cancer tubular adenocarcinoma

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