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 **1401 - 1425** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▲	Disease Ontology
416	arylsulfatase F	ARSF Aliases: ASF	Homo sapiens (human)	Kuhnt-Junius degeneration breast cancer cancer embryoma epithelioid sarcoma hepatocellular carcinoma inflammatory bowel disease influenza liver cancer lung benign neoplasm lung cancer lung non-small cell carcinoma multiple sclerosis myositis neuroblastoma papilloma progressive multifocal leukoencephalopathy progressive muscular atrophy prostate cancer prostate carcinoma sarcoma spinal muscular atrophy spindle cell sarcoma squamous cell carcinoma squamous cell papilloma stomach cancer stomach carcinoma substance abuse substance-related disorder systemic lupus erythematosus tongue squamous cell carcinoma
50863	neurotrimin	NTM Aliases: CEPU-1 HNT IGLON2 IgLON family member 2 NTRI neurotrimin	Homo sapiens (human)	Kartagener syndrome Mycobacterium avium complex disease Parkinson's disease acquired immunodeficiency syndrome actinic keratosis acute myeloid leukemia acute myocardial infarction attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bronchiectasis cancer chronic obstructive pulmonary disease congenital aphakia congenital heart disease congestive heart failure coronary thrombosis depressive disorder embryoma endophthalmitis esophagitis familial medullary thyroid carcinoma gallbladder disease gastroesophageal reflux disease hepatocellular carcinoma intracranial aneurysm late onset Parkinson's disease leprosy liver cancer liver disease lung disease lymphadenitis major depressive disorder melancholic depression multiple endocrine neoplasia type 2A myocardial infarction myopia neurotic disorder nicotine dependence obsolete melancholia peptic esophagitis primary ciliary dyskinesia 1 primary ciliary dyskinesia primary open angle glaucoma pulmonary tuberculosis schizophrenia seborrheic keratosis silent myocardial infarction skin disease thyroid gland medullary carcinoma tuberculosis tuberculous pneumothorax
129807	neuraminidase 4	NEU4	Homo sapiens (human)	cancer embryoma giant cell glioblastoma glioblastoma high grade glioma neuroblastoma
3651	pancreatic and duodenal homeobox 1	PDX1	Homo sapiens (human)	acute necrotizing pancreatitis cerebral infarction diabetes mellitus diabetic retinopathy hyperglycemia maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young obesity pancreatic agenesis placental insufficiency type 1 diabetes mellitus type 2 diabetes mellitus
26229	beta-1,3-glucuronyltransferase 3	B3GAT3 Aliases: GlcAT-I galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 glucuronosyltransferase I	Homo sapiens (human)	Hailey-Hailey disease Laron syndrome Larsen-like syndrome B3GAT3 type Marfan syndrome Rothmund-Thomson syndrome achondroplasia amblyopia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis 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 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB bicuspid aortic valve disease buphthalmos cancer cleft palate cleidocranial dysplasia clubfoot communicating hydrocephalus congenital heart disease craniosynostosis cutis laxa esotropia geroderma osteodysplasticum glaucoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hydrophthalmos hyperopia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis isolated cleft palate juvenile glaucoma liver cancer liver carcinoma mal de Meleda mitral valve insufficiency mitral valve prolapse monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia obstructive hydrocephalus osteochondrodysplasia osteoporosis patent foramen ovale postinflammatory pulmonary fibrosis postural orthostatic tachycardia syndrome pulmonary fibrosis radioulnar synostosis refractive error restrictive dermopathy scoliosis senile degeneration of brain situs inversus strabismic amblyopia thoracic aortic aneurysm tuberous sclerosis
5332	phospholipase C beta 4	PLCB4	Homo sapiens (human)	46,XY sex reversal Chagas disease 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 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 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 Kawasaki disease abdominal obesity-metabolic syndrome 1 absence epilepsy acute chest syndrome acute myeloid leukemia adenocarcinoma adenoma agenesis of the corpus callosum with peripheral neuropathy agnosia ankylosis bipolar disorder breast cancer breast carcinoma cancer central sleep apnea childhood absence epilepsy childhood acute myeloid leukemia cleft palate congenital ptosis coronary aneurysm cribriform carcinoma cutaneous fibrous histiocytoma dengue hemorrhagic fever depressive disorder embryoma endometriosis of uterus endometriosis essential thrombocythemia gastrointestinal stromal tumor granular cell carcinoma hereditary neuropathy with liability to pressure palsies hidradenoma isolated cleft palate lung cancer lung non-small cell carcinoma major depressive disorder melancholic depression melanoma mood disorder motor peripheral neuropathy myelodysplastic syndrome neurotic disorder nicotine dependence obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia obstructive sleep apnea ptosis retinal degeneration retinal disease schizoaffective disorder schizophrenia schizophreniform disorder sensorineural hearing loss skin melanoma skin papilloma skin tag syringoma tongue disease trypanosomiasis tubular adenocarcinoma uveal melanoma
5213	phosphofructokinase, muscle	PFKM Aliases: PFK-1 PPP1R122 protein phosphatase 1, regulatory subunit 122	Homo sapiens (human)	D-bifunctional protein deficiency adenocarcinoma adenoma anemia breast cancer breast carcinoma cancer carcinoma carnitine palmitoyltransferase I deficiency cholecystolithiasis choledocholithiasis cholelithiasis coronary artery disease cribriform carcinoma cystinuria diabetes mellitus disease of metabolism embryoma galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease gout granular cell carcinoma hemolytic anemia hepatocellular carcinoma high grade glioma hyperglycemia hyperuricemia liver cancer liver carcinoma macrocytic anemia pancreatic cancer pancreatic carcinoma pseudosarcomatous fibromatosis renal tubular acidosis sarcomatoid carcinoma schizophrenia tuberculosis tubular adenocarcinoma type 2 diabetes mellitus
284194	galectin 9B	LGALS9B	Homo sapiens (human)
4952	OCRL inositol polyphosphate-5-phosphatase	OCRL Aliases: Dent disease 2 Dent-2 OCRL1	Homo sapiens (human)	Bartter disease Conn's syndrome Dent disease Ehlers-Danlos syndrome Fanconi anemia Fanconi syndrome Laron syndrome Waterhouse-Friderichsen syndrome achondroplasia amblyopia anemia angular cheilitis anxiety disorder arthritis arthropathy attention deficit hyperactivity disorder autistic disorder autoimmune hemolytic anemia azoospermia blindness buphthalmos calcinosis calcium metabolism disease cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract cheilitis chromosome 17p13.1 deletion syndrome chronic kidney disease chronic ulcer of skin congenital nystagmus cryptorchidism cystinosis dental caries dental enamel hypoplasia dentin caries depressive disorder diabetes insipidus dissociated nystagmus dysthymic disorder epilepsy esophagitis fetal erythroblastosis gastroesophageal reflux disease generalized anxiety disorder giant cell glioblastoma gingivitis glaucoma glioblastoma glomerulonephritis high grade glioma hydrocephalus hydrophthalmos hypercalcemia hyperparathyroidism hypertropia hypokalemia hypophosphatemia inguinal hernia intellectual disability isolated elevated serum creatine phosphokinase levels kidney failure learning disability lip disease lissencephaly listeriosis macrocytic anemia major depressive disorder mechanical strabismus melancholic depression microphthalmia neonatal anemia nephritis nephrocalcinosis nephrolithiasis neurohypophyseal diabetes insipidus neurotic disorder obsolete constipation obsolete melancholia oculocerebrorenal syndrome omphalocele ophthalmoplegia osteitis fibrosa osteoarthritis osteogenesis imperfecta osteomalacia otitis media pathologic nystagmus peptic esophagitis periodontitis phosphorus metabolism disease primary hyperaldosteronism proteinuria recurrent corneal erosion renal tubular acidosis rickets scoliosis skin benign neoplasm skin cancer spondyloepimetaphyseal dysplasia, Sponastrime type spontaneous ocular nystagmus stereotypic movement disorder strabismic amblyopia strabismus subcortical band heterotopia thrombocytopenia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tropical sprue umbilical hernia uremia uric acid nephrolithiasis visual epilepsy
39	acetyl-CoA acetyltransferase 2	ACAT2 Aliases: Acetyl-CoA acetyltransferase, cytosolic acetoacetyl Coenzyme A thiolase	Homo sapiens (human)	amyotrophic lateral sclerosis androgen insensitivity syndrome arteriosclerotic cardiovascular disease atherosclerosis beta-ketothiolase deficiency breast cancer cholecystolithiasis choledocholithiasis cholelithiasis choreatic disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease hepatitis C hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease liver cancer nutmeg liver papillary renal cell carcinoma premature menopause progressive muscular atrophy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma syndromic X-linked intellectual disability type 10 ulcerative colitis
51301	glucosaminyl (N-acetyl) transferase 4	GCNT4 Aliases: C2GNT3 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 core 2 beta-1,6-N-acetylglucosaminyltransferase 3	Homo sapiens (human)
653308	N-acylsphingosine amidohydrolase 2B	ASAH2B Aliases: ASAH2L bA449O16.3 bA98I6.3	Homo sapiens (human)	breast cancer breast carcinoma
29095	ORMDL sphingolipid biosynthesis regulator 2	ORMDL2 Aliases: HSPC160 MST095 MSTP095 adoplin-2	Homo sapiens (human)	allergic asthma asthma intrinsic asthma
3612	inositol monophosphatase 1	IMPA1 Aliases: myo-inositol monophosphatase 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 Duchenne muscular dystrophy Lewy body dementia Pick's disease Reye syndrome alcohol dependence alcohol use disorder antisocial personality disorder aplastic anemia 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 intellectual developmental disorder 59 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 avoidant personality disorder bipolar disorder brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral atherosclerosis cerebral degeneration cerebral infarction cerebrovascular disease chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer cone-rod dystrophy congenital muscular dystrophy conjunctivitis cryptosporidiosis cystitis delusional disorder dermatophytosis diabetes mellitus distal myopathy embryoma epilepsy essential hypertension facioscapulohumeral muscular dystrophy focal epilepsy fundus albipunctatus fungal infectious disease gallbladder disease gliosarcoma glycogen storage disease IV glycogen storage disease VI glycogen storage disease VII heart disease high grade glioma hypertension intellectual disability intracranial arteriosclerosis large intestine cancer learning disability limb-girdle muscular dystrophy liver disease lung benign neoplasm lung cancer lung carcinoma mixed glioma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 narcissistic personality disorder 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 ovarian cancer ovarian carcinoma paranoid schizophrenia partial motor epilepsy primary pulmonary hypertension retinitis pigmentosa rippling muscle disease 2 sickle cell anemia syndromic X-linked intellectual disability 94 systemic primary carnitine deficiency disease trigonitis type 2 diabetes mellitus visual epilepsy
29929	ALG6 alpha-1,3-glucosyltransferase	ALG6 Aliases: dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase	Homo sapiens (human)	antithrombin III deficiency congenital disorder of glycosylation Ia congenital disorder of glycosylation Ic congenital disorder of glycosylation type I congenital disorder of glycosylation epilepsy hypertropia mechanical strabismus ophthalmoplegia protein C deficiency protein S deficiency strabismus thrombophilia visual epilepsy
56261	glycerophosphocholine phosphodiesterase 1	GPCPD1 Aliases: GDE5 GDPD6 KIAA1434	Homo sapiens (human)	eating disorder endometrial cancer endometrial carcinoma obesity uterine corpus cancer
2218	fukutin	FKTN Aliases: LGMD2M	Homo sapiens (human)	Axenfeld-Rieger syndrome Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia anaplastic astrocytoma 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 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 blindness breast cancer buphthalmos campomelic dysplasia cancer cardiomyopathy cataract centronuclear myopathy childhood cerebral astrocytoma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 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 congenital myopathy 1A congenital myopathy 4A congenital structural myopathy congestive heart failure cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia craniosynostosis cryptorchidism developmental coordination disorder dextro-looped transposition of the great arteries dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy distal myopathy embryoma endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma fibromyalgia fundus dystrophy gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma glaucoma high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma learning disability limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy lissencephaly malignant astrocytoma mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia multiple types of congenital heart defects 6 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B4 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy nonepidermolytic palmoplantar keratoderma 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy palmoplantar keratosis patent foramen ovale peripheral retinal degeneration pilocytic astrocytoma placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 protoplasmic astrocytoma pulmonary valve stenosis recurrent corneal erosion renal agenesis retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder stomach cancer stomach carcinoma strabismus subependymal giant cell astrocytoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type visual epilepsy
27163	N-acylethanolamine acid amidase	NAAA	Homo sapiens (human)	Alagille syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Burkitt lymphoma DiGeorge syndrome Glanzmann's thrombasthenia Goodpasture syndrome Hantavirus hemorrhagic fever with renal syndrome Henoch-Schoenlein purpura 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 Marfan syndrome Pick's disease Reye syndrome T-cell acute lymphoblastic leukemia Takayasu's arteritis abdominal obesity-metabolic syndrome 1 acrodermatitis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia adult acute lymphocytic leukemia adult respiratory distress syndrome anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atopic dermatitis bacterial sepsis bladder carcinoma blood coagulation disease bone marrow cancer cancer cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia colorectal cancer colorectal carcinoma coronary artery disease craniosynostosis dengue disease dermatitis diabetes mellitus diabetic ketoacidosis embryoma essential thrombocythemia granulomatosis with polyangiitis gray platelet syndrome heart disease hemophagocytic lymphohistiocytosis hepatitis C hepatocellular carcinoma hypersensitivity vasculitis inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer leukopenia liver cancer liver cirrhosis macrocytic anemia myelodysplastic syndrome myeloproliferative neoplasm newborn respiratory distress syndrome nicotine dependence obesity obsolete inherited blood coagulation disease obsolete type 1 diabetes mellitus 9 osteoarthritis platelet-type bleeding disorder 10 platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 pneumonia polyarteritis nodosa portal hypertension portal vein thrombosis primary pulmonary hypertension prostate cancer prostate carcinoma qualitative platelet defect situs inversus steatotic liver disease thalassemia thrombocytopenia thrombocytosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer velocardiofacial syndrome viral infectious disease yellow fever
56886	UDP-glucose glycoprotein glucosyltransferase 1	UGGT1 Aliases: HUGT1	Homo sapiens (human)	Crigler-Najjar syndrome Gilbert syndrome abdominal obesity-metabolic syndrome 1 agranulocytosis alpha 1-antitrypsin deficiency beta thalassemia bilirubin metabolic disorder cancer carcinoma cholecystolithiasis choledocholithiasis cholelithiasis cryptococcosis embryoma epilepsy gallbladder disease hepatitis C hepatitis D leukopenia liver disease neonatal jaundice neutropenia prostate cancer prostate carcinoma sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia thalassemia visual epilepsy xeroderma pigmentosum group D
2271	fumarate hydratase	FH Aliases: fumarase	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Burkitt lymphoma Crohn's colitis Crohn's disease Gilbert syndrome Hirschsprung's disease Langerhans-cell histiocytosis MELAS syndrome Parkinson's disease Richter's syndrome Tangier disease acquired polycythemia actinic keratosis acute lymphoblastic leukemia acute myeloid leukemia acute promyelocytic leukemia adenosarcoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenal gland hyperfunction adrenocortical carcinoma adult acute lymphocytic leukemia adult lymphoma aggressive systemic mastocytosis agranulocytosis aniridia aortic valve disease 2 aortic valve stenosis arthritis arthropathy autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bilirubin metabolic disorder bizarre leiomyoma bladder carcinoma blindness brain disease breast cancer cancer carcinoma cataract central nervous system lymphoma cerebral degeneration cerebral malaria childhood acute lymphocytic leukemia childhood kidney cell carcinoma childhood lymphoma cholestasis chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital adrenal hyperplasia congestive heart failure cutaneous leiomyosarcoma cutaneous leishmaniasis cystic kidney disease duodenum cancer embryoma endometrial cancer endometrial carcinoma epilepsy epithelioid leiomyosarcoma erythropoietin polycythemia familial adenomatous polyposis familial erythrocytosis 2 familial renal papillary carcinoma follicular lymphoma fumarase deficiency glomerulonephritis heart cancer hemangioblastoma hypercalcemia hypertensive retinopathy immune system disease indolent systemic mastocytosis inflammatory bowel disease 1 inflammatory bowel disease kidney cancer kidney disease kwashiorkor lactic acidosis large intestine cancer late onset Parkinson's disease leiomyoma cutis leiomyoma leiomyomatosis leiomyosarcoma leukopenia lung non-small cell carcinoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 mantle cell lymphoma marasmus mastocytosis microcephaly microphthalmia mucinous ovarian cystadenoma mucocutaneous leishmaniasis multiple endocrine neoplasia type 2A multiple myeloma multiple sclerosis muscle benign neoplasm muscle cancer myofibroma myxoid leiomyosarcoma nasopharynx carcinoma nephritis nephroblastoma nephrocalcinosis neuroblastoma neuroendocrine carcinoma neurofibromatosis 1 neurofibromatosis neutropenia non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutrition disease obsolete Cushing's syndrome obsolete ymphosarcoma optic atrophy osteoarthritis oxyphilic adenoma pancreatic cancer pancreatic carcinoma panic disorder papillary adenocarcinoma papillary renal cell carcinoma paraganglioma pheochromocytoma phosphorus metabolism disease polycythemia vera polycythemia primary biliary cholangitis primary hyperaldosteronism prostate cancer prostate carcinoma protein-energy malnutrition proteinuria rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renal osteodystrophy reticulosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seborrheic keratosis severe congenital neutropenia sickle cell anemia skin disease small intestine cancer smooth muscle tumor speech disorder status epilepticus stomach cancer stomach carcinoma stress polycythemia systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic mastocytosis testicular cancer thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome ulcerative colitis urinary bladder cancer uterine corpus cancer uterine fibroid uterus leiomyosarcoma vaginal cancer visceral leishmaniasis visual epilepsy
2648	lysine acetyltransferase 2A	KAT2A	Homo sapiens (human)	heart disease kidney disease lung non-small cell carcinoma
34	acyl-CoA dehydrogenase medium chain	ACADM Aliases: ACAD1 MCAD MCADH medium-chain acyl-CoA dehydrogenase	Homo sapiens (human)	D-bifunctional protein deficiency Reye syndrome brain edema breast cancer breast carcinoma cancer carnitine palmitoyltransferase I deficiency chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure cystinuria diarrhea disease of metabolism distal arthrogryposis epilepsy familial periodic paralysis galactosemia gallbladder disease 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 hepatitis hydrocephalus hypoglycemia hypoglycemic coma inherited metabolic disorder isolated elevated serum creatine phosphokinase levels lactic acidosis large intestine cancer liver disease long QT syndrome medium chain acyl-CoA dehydrogenase deficiency metabolic dysfunction-associated steatotic liver disease myopathy neuroblastoma neurodegenerative disease nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma perinatal necrotizing enterocolitis phenylketonuria pseudosarcomatous fibromatosis psoriatic arthritis renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma sick sinus syndrome steatotic liver disease sudden infant death syndrome systemic primary carnitine deficiency disease urea cycle disorder visual epilepsy
348174	C-type lectin domain family 18 member A	CLEC18A	Homo sapiens (human)
54916	transmembrane protein 260	TMEM260	Homo sapiens (human)	B-cell lymphoma Langerhans-cell histiocytosis T-cell non-Hodgkin lymphoma acute myeloid leukemia alcohol dependence alcohol use disorder cancer double outlet right ventricle embryoma kidney failure lymphoma non-Hodgkin lymphoma obsolete ymphosarcoma reticulosarcoma stomach cancer ventricular septal defect
501	aldehyde dehydrogenase 7 family member A1	ALDH7A1 Aliases: 26g turgor protein homolog EPD P6c dehydrogenase PDE alpha-AASA dehydrogenase alpha-aminoadipic semialdehyde dehydrogenase antiquitin 1 delta1-piperideine-6-carboxylate dehydrogenease	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 Becker muscular dystrophy Dravet syndrome Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Pendred Syndrome Pick's disease Reye syndrome Richter's syndrome Usher syndrome type 1 Usher syndrome acrodermatitis adrenoleukodystrophy adult respiratory distress syndrome allergic asthma asphyxia neonatorum asthma atopic dermatitis 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 bone disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cartilage disease cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract central nervous system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cholera chronic lymphocytic leukemia coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer cone-rod dystrophy congestive heart failure connective tissue disease depressive disorder dermatitis developmental and epileptic encephalopathy 2 diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health distal myopathy dyshormonogenic goiter dysthymic disorder early infantile epileptic encephalopathy early myoclonic encephalopathy early-onset vitamin B6-dependent epilepsy 4 embryoma endomyocardial fibrosis epilepsy esophagus squamous cell carcinoma essential hypertension facioscapulohumeral muscular dystrophy fundus albipunctatus gastrointestinal stromal tumor giant cell glioblastoma glaucoma glioblastoma heart disease hepatitis C hepatocellular carcinoma high grade glioma homocystinuria hydrocephalus hyperprolinemia type 2 hypertension hypertropia hypophosphatasia impotence intellectual disability intermittent claudication intrinsic asthma keratosis follicularis lactic acidosis large intestine cancer learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia liver cancer liver carcinoma liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma major depressive disorder mechanical strabismus melancholic depression melanoma microphthalmia mongolian spot movement disease muscular dystrophy narcolepsy nervous system disease neurotic disorder newborn respiratory distress syndrome nodular prostate obsolete Dravet syndrome obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete infantile epileptic encephalopathy obsolete melancholia oculopharyngeal muscular dystrophy open-angle glaucoma ophthalmoplegia osteoporosis peripheral artery disease peripheral vascular disease pigment dispersion syndrome pneumonia premature ejaculation primary pulmonary hypertension prostate cancer prostate carcinoma prostatic adenoma pseudoxanthoma elasticum psychologic dyspareunia psychotic disorder pyridoxine-dependent epilepsy rectal benign neoplasm rectum adenocarcinoma rectum cancer retinitis pigmentosa sarcomatoid carcinoma schizophrenia seminoma sexual dysfunction skin melanoma speech disorder squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma strabismus testicular cancer testicular germ cell cancer tongue squamous cell carcinoma type 2 diabetes mellitus visual epilepsy

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