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 **1176 - 1200** of **1582** in total

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Gene ID	Gene Name ▼	Gene Symbol	Organism	Disease Ontology
276	amylase alpha 1A	AMY1A	Homo sapiens (human)	McCune Albright syndrome Sjogren's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma allergic rhinitis anorexia nervosa anxiety disorder autism spectrum disorder autistic disorder cancer cribriform carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma essential hypertension generalized anxiety disorder granular cell carcinoma hepatocellular carcinoma hyperinsulinism hypertension hypothalamic disease inflammatory bowel disease 1 inflammatory bowel disease intellectual disability keratoconjunctivitis sicca kwashiorkor learning disability liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma major depressive disorder marasmus meconium aspiration syndrome melancholic depression multiple myeloma neurotic disorder nutrition disease obesity obsolete melancholia obstructive sleep apnea parathyroid gland disease periodontal disease phobic disorder post-traumatic stress disorder protein-energy malnutrition schizophrenia seasonal affective disorder substance abuse substance-related disorder tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis vasomotor rhinitis
275	aminomethyltransferase	AMT Aliases: GCST NKH glycine cleavage system protein T nonketotic hyperglycinemia	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease 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 Unverricht-Lundborg syndrome X-linked Aarskog syndrome acute pancreatitis autism spectrum disorder autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome blepharospasm brain disease cancer central nervous system lymphoma chondrodysplasia-pseudohermaphroditism syndrome chromosome 9p deletion syndrome chylomicron retention disease colorectal cancer colorectal carcinoma corneal ulcer depressive disorder developmental and epileptic encephalopathy 3 disease of metabolism dysthymic disorder early infantile epileptic encephalopathy early myoclonic encephalopathy embryoma epilepsy familial lipoprotein lipase deficiency female reproductive organ cancer focal hand dystonia glaucoma glycine encephalopathy hemophilia B hyperlipoproteinemia type V inflammatory bowel disease 1 inflammatory bowel disease intellectual disability lactic acidosis large intestine cancer learning disability lymphoma major depressive disorder melancholic depression microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II multiple sclerosis neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma pancreatitis ulcerative colitis urea cycle disorder visual epilepsy
51005	amidohydrolase domain containing 2	AMDHD2 Aliases: CGI-14 N-acetylglucosamine-6-phosphate deacetylase	Homo sapiens (human)	colorectal cancer colorectal carcinoma large intestine cancer
23600	alpha-methylacyl-CoA racemase	AMACR Aliases: P504S RACE	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 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 Ewing sarcoma Gilbert syndrome Japanese encephalitis Kawasaki disease Langerhans-cell histiocytosis MHC class II deficiency Marfan syndrome Rett syndrome acinar cell carcinoma acute myeloid leukemia adenocarcinoma adenoma adenosine deaminase deficiency agenesis of the corpus callosum with peripheral neuropathy alpha-methylacyl-CoA racemase deficiency atrial fibrillation atrophy of prostate bilirubin metabolic disorder bladder carcinoma blindness blood coagulation disease brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease cholestasis chondroma chondrosarcoma chromophobe renal cell carcinoma chronic kidney disease clear cell adenocarcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cone-rod dystrophy congenital bile acid synthesis defect 4 congenital bile acid synthesis defect congestive heart failure cribriform carcinoma cutaneous fibrous histiocytoma dengue disease depressive disorder diabetes mellitus diffuse large B-cell lymphoma dysplastic nevus syndrome dysthymic disorder embryoma embryonal cancer epilepsy esophagus adenocarcinoma essential hypertension essential thrombocythemia follicular adenoma fundus albipunctatus gallbladder disease gastrointestinal stromal tumor germ cell and embryonal cancer germ cell cancer germinoma gliosarcoma granular cell carcinoma heart disease hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hidradenoma high grade glioma hypertension hypogonadism inflammatory bowel disease 1 inflammatory bowel disease inflammatory myofibroblastic tumor intrahepatic cholestasis kidney cancer kwashiorkor large intestine cancer lipoma liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder marasmus mastitis medulloblastoma medulloepithelioma melancholic depression melanoma microcystic adenoma migraine mixed glioma motor neuritis motor peripheral neuropathy multiple sclerosis multiple symmetric lipomatosis myelodysplastic syndrome nasopharynx carcinoma neuritis neuroblastoma neuroectodermal tumor neuroendocrine carcinoma neuropathy neurotic disorder nodular prostate nonpapillary renal cell carcinoma nutrition disease obesity obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete ymphosarcoma oxyphilic adenoma pancreatic cancer pancreatitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma papilloma peripheral nervous system disease peroxisomal disease pleomorphic lipoma primary cutaneous amyloidosis prostate adenocarcinoma prostate cancer prostate carcinoma in situ prostate carcinoma prostatic adenoma protein-energy malnutrition renal carcinoma renal cell carcinoma renal oncocytoma retinitis pigmentosa rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia severe combined immunodeficiency situs inversus skin melanoma skin papilloma skin tag squamous cell carcinoma squamous cell papilloma status epilepticus supratentorial primitive neuroectodermal tumor syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer viral infectious disease visual epilepsy yellow fever
4668	alpha-N-acetylgalactosaminidase	NAGA Aliases: D22S674 alpha-galactosidase B	Homo sapiens (human)	Clouston syndrome Fabry disease Kanzaki disease Schindler disease type 1 Unverricht-Lundborg syndrome acquired hyperkeratosis alternating hemiplegia of childhood angiokeratoma autistic disorder autonomic neuropathy blepharospasm cancer cardiomyopathy cataract central nervous system disease central nervous system origin vertigo cerebral degeneration chylomicron retention disease congenital nystagmus dissociated nystagmus early myoclonic encephalopathy elephantiasis embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia gallbladder disease hypertrophic cardiomyopathy hypertropia influenza intellectual disability learning disability lipid storage disease liver disease lymphedema mechanical strabismus nervous system disease neuroaxonal dystrophy neurodegeneration with brain iron accumulation 2a neuropathy ophthalmoplegia optic atrophy pathologic nystagmus peripheral nervous system disease sensorineural hearing loss spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 trichomoniasis visual epilepsy
3425	alpha-L-iduronidase	IDUA Aliases: MPS1 MPSI mucopolysaccharidosis type I	Homo sapiens (human)	Alzheimer's disease Balo concentric sclerosis Creutzfeldt-Jakob disease Fabry disease Gaucher's disease Hartnup disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Klippel-Feil syndrome Krabbe disease Laron syndrome Loeys-Dietz syndrome Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Richter's syndrome Scheie syndrome Sly syndrome T-cell acute lymphoblastic leukemia Weissenbacher-Zweymuller syndrome achondroplasia acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia adrenoleukodystrophy adult medulloblastoma agranulocytosis anemia anogenital venereal wart aortic valve disease 2 aortic valve insufficiency aortic valve stenosis autosomal recessive hypophosphatemic rickets benign mesothelioma blindness bone disease brain cancer breast cancer breast carcinoma cancer cardiomyopathy cartilage disease central nervous system disease cerebral palsy childhood medulloblastoma chromophobe renal cell carcinoma chronic lymphocytic leukemia chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart communicating hydrocephalus congenital heart disease connective tissue disease deficiency anemia dental caries dentin caries depressive disorder disease of mental health disease of metabolism dysthymic disorder embryoma endomyocardial fibrosis essential hypertension gastric ulcer giant cell glioblastoma gingival hypertrophy gingival overgrowth glaucoma glioblastoma glycogen storage disease II glycoproteinosis head and neck squamous cell carcinoma hemiplegia hepatocellular carcinoma high grade glioma hydrocephalus hypertension hypertrophic cardiomyopathy hypochromic anemia inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia inherited metabolic disorder intellectual disability intracranial hypotension large intestine cancer learning disability leukopenia lipid storage disease liver cancer liver carcinoma lung benign neoplasm lung carcinoma lymphoblastic lymphoma lysosomal storage disease macrocytic anemia major depressive disorder malignant mesothelioma medulloblastoma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma microcytic anemia mitral valve insufficiency mitral valve prolapse mucolipidosis II alpha/beta mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih/s mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia multiple myeloma narcolepsy nervous system disease neurotic disorder neutropenia nonpapillary renal cell carcinoma obsolete melancholia obsolete ymphosarcoma obstructive hydrocephalus obstructive sleep apnea osteochondrodysplasia osteoporosis otitis media pancreatic ductal adenocarcinoma papillary renal cell carcinoma primary pulmonary hypertension psychotic disorder recurrent corneal erosion renal carcinoma renal cell carcinoma retinal disease retinitis sarcomatoid renal cell carcinoma scoliosis senile degeneration of brain sensorineural hearing loss severe congenital neutropenia skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy sphingolipidosis spinal cord disease spondylolisthesis stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma tracheal stenosis tyrosinemia type I tyrosinemia ulcerative colitis
2519	alpha-L-fucosidase 2	FUCA2 Aliases: MGC1314 a-L-fucosidase 2 dJ20N2.5 plasma fucosidase α-L-fucosidase 2	Homo sapiens (human)	autoimmune disease autoimmune lymphoproliferative syndrome duodenal ulcer glycoproteinosis immune system disease schizophrenia sickle cell anemia
2517	alpha-L-fucosidase 1	FUCA1 Aliases: a-L-fucosidase 1 tissue fucosidase α-L-fucosidase 1	Homo sapiens (human)	Laron syndrome Sjogren's syndrome achondroplasia acquired immunodeficiency syndrome angiokeratoma anhidrosis aspartylglucosaminuria autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer cerebral degeneration colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypothyroidism craniosynostosis critical illness polyneuropathy diabetes mellitus diabetic cataract diabetic retinopathy embryoma enterocele epilepsy fucosidosis head and neck cancer human immunodeficiency virus infectious disease hypertrichosis hypohidrosis hypothyroidism immune system disease inflammatory and toxic neuropathy intellectual disability keratoconjunctivitis sicca large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy livedoid vasculitis lobular neoplasia locked-in syndrome lysosomal storage disease meningoencephalitis mucoepidermoid carcinoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myxedema neuropathy papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy quadriplegia recurrent corneal erosion scoliosis sensorineural hearing loss squamous cell carcinoma syndromic X-linked intellectual disability 94 thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma type 1 diabetes mellitus type 2 diabetes mellitus vascular skin disease visual epilepsy
146664	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	MGAT5B Aliases: FLJ25132 GnT-IX GnT-VB	Homo sapiens (human)	brain cancer cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma hepatocellular carcinoma liver cancer neuroblastoma nonpapillary renal cell carcinoma papillary renal cell carcinoma polycystic ovary syndrome renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
4249	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	MGAT5 Aliases: GNT-V MGAT5A alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A	Homo sapiens (human)	Henoch-Schoenlein purpura Richter's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma bile duct adenocarcinoma bile duct cancer bile duct carcinoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer cholangiocarcinoma chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm depressive disorder diabetic ketoacidosis embryoma follicular adenoma gastric adenocarcinoma giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma hyperinsulinism hypersensitivity vasculitis inflammatory bowel disease 1 inflammatory bowel disease invasive ductal carcinoma liver cancer lung benign neoplasm melanoma microcystic adenoma mixed glioma multiple sclerosis neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 papillary adenoma papillary renal cell carcinoma parapsoriasis prostate cancer prostate carcinoma proteinuria psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma stomach cancer stomach carcinoma systemic lupus erythematosus 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 ulcerative colitis urinary bladder cancer
4247	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT2 Aliases: GNT-II	Homo sapiens (human)	Laron syndrome achondroplasia antithrombin III deficiency autosomal recessive chronic granulomatous disease 3 cancer chronic granulomatous disease clubfoot congenital disorder of glycosylation type II congenital disorder of glycosylation type IIa congenital disorder of glycosylation congenital dyserythropoietic anemia type II congenital dyserythropoietic anemia craniosynostosis diabetes mellitus diabetic ketoacidosis disease of metabolism epilepsy factor XII deficiency gestational diabetes gingival hypertrophy gingival overgrowth microcephaly neuroblastoma obesity protein C deficiency protein S deficiency sensorineural hearing loss stereotypic movement disorder syndromic X-linked intellectual disability 94 thrombophilia type 2 diabetes mellitus ventricular septal defect visual epilepsy
51146	alpha-1,4-N-acetylglucosaminyltransferase	A4GNT Aliases: alpha4GnT	Homo sapiens (human)	adenocarcinoma adenoma cancer cribriform carcinoma embryoma gastric adenocarcinoma gastritis granular cell carcinoma pancreatic cancer pancreatic carcinoma peptic ulcer disease stomach cancer stomach carcinoma tubular adenocarcinoma
11282	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	MGAT4B Aliases: GnT-Ivb	Homo sapiens (human)	cancer depressive disorder embryoma major depressive disorder melancholic depression obsolete melancholia
11320	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	MGAT4A Aliases: GnT-4a GnT-Iva	Homo sapiens (human)	bipolar disorder cancer colorectal cancer diabetes mellitus disease of metabolism embryoma gestational trophoblastic neoplasm hypoplastic left heart syndrome large intestine cancer pancreatic cancer type 2 diabetes mellitus
4245	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT1 Aliases: GLCNAC-TI GNT-1 GnTI	Homo sapiens (human)	Balo concentric sclerosis adrenoleukodystrophy breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease central nervous system cancer central nervous system disease complex partial epilepsy congestive heart failure cystinuria diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism embryoma endomyocardial fibrosis epilepsy galactokinase deficiency galactosemia gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycine encephalopathy glycogen storage disease Ia glycogen storage disease heart disease hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease liver cancer mixed glioma multiple sclerosis narcolepsy nervous system disease obesity obsolete type 1 diabetes mellitus 9 prostate cancer prostate carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder temporal lobe epilepsy 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 visual epilepsy
2548	alpha glucosidase	GAA Aliases: Pompe disease glycogen storage disease type II	Homo sapiens (human)	Becker muscular dystrophy Clouston syndrome Duchenne muscular dystrophy Fabry disease Friedreich ataxia 1 Friedreich ataxia aortic aneurysm ataxia telangiectasia 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 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 cancer cardiomyopathy cerebellar ataxia cerebellar disease chylomicron retention disease cystinuria cytochrome-c oxidase deficiency disease diaphragm disease disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III 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 hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease membranous glomerulonephritis mitochondrial metabolism disease mitochondrial myopathy muscular dystrophy myopathy neurodegenerative disease neuromuscular disease obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy patent foramen ovale peroxisome biogenesis disorder 7A primary immunodeficiency disease sensorineural hearing loss thyroid gland anaplastic carcinoma
53947	alpha 1,4-galactosyltransferase (P1PK blood group)	A4GALT Aliases: A14GALT CD77 synthase Gb3 synthase Gb3S P(k) globotriaosylceramide synthase lactosylceramide 4-alpha-galactosyltransferase	Homo sapiens (human)	Burkitt lymphoma Caffey disease acute megakaryocytic leukemia adenocarcinoma adenoma cancer cribriform carcinoma embryoma gastric adenocarcinoma granular cell carcinoma hematologic cancer hemolytic-uremic syndrome kidney failure leukemia teratocarcinoma thrombophilia tubular adenocarcinoma
127550	alpha 1,3-galactosyltransferase 2	A3GALT2 Aliases: IGB3S IGBS3S iGb3 synthase isoglobotriaosylceramide synthase	Homo sapiens (human)
8540	alkylglycerone phosphate synthase	AGPS Aliases: ADAP-S ADAS ADHAPS ADPS ALDHPSY	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 X-linked chondrodysplasia punctata 1 Zellweger syndrome agammaglobulinemia amyloidosis autosomal dominant chondrodysplasia punctata cancer central nervous system cancer cerebral degeneration chondrodysplasia punctata congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy dementia embryoma epilepsy essential hypertension gliosarcoma hepatocellular carcinoma high grade glioma hypertension liver cancer lymphopenia mixed glioma peroxisome biogenesis disorder 1A photoallergic dermatitis rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata thyroid adenoma thyroid cancer thyroid gland carcinoma visual epilepsy
250	alkaline phosphatase, placental	ALPP Aliases: PALP PLAP Regan isozyme placental alkaline phosphatase	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 Becker muscular dystrophy Bloom syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Langerhans-cell histiocytosis Laron syndrome Marfan syndrome Pick's disease Q fever Reye syndrome Sjogren's syndrome Waardenburg syndrome type 1 Waardenburg syndrome Wilson disease X-linked lymphoproliferative syndrome 2 absence epilepsy achondroplasia acromegaly acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia adult cystic teratoma adult hypophosphatasia adult lymphoma adult teratoma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis ankylosing spondylitis autoimmune pancreatitis 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 azoospermia bladder carcinoma bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cardiovascular system disease cartilage disease central nervous system lymphoma cerebral degeneration cerebral palsy cervical adenocarcinoma cervical cancer cervix carcinoma childhood absence epilepsy childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma cholestasis choriocarcinoma chromophobe renal cell carcinoma chromosome 17p13.1 deletion syndrome chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma cleft palate collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation connective tissue disease craniosynostosis cystic teratoma diabetes mellitus diabetic ketoacidosis distal arthrogryposis distal myopathy dysplastic nevus syndrome embryoma embryonal cancer endemic goiter endometriosis of uterus endometriosis endomyocardial fibrosis esophagitis essential thrombocythemia exanthem extrahepatic cholestasis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypocalciuric hypercalcemia 1 fragile X syndrome gallbladder disease gastroesophageal reflux disease gastrointestinal system cancer germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glaucoma glioblastoma goiter heart disease hematologic cancer hematopoietic system disease hemiplegia hemochromatosis hepatitis C hepatitis hepatocellular carcinoma hereditary elliptocytosis high grade glioma hypercalcemia hyperpituitarism hypogonadism hypophosphatasia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis infantile hypophosphatasia inflammatory bowel disease 1 inflammatory bowel disease inflammatory liposarcoma intrahepatic cholangiocarcinoma iron metabolism disease islet cell tumor isolated cleft palate keratoconjunctivitis sicca kidney failure large intestine cancer leukemia limb-girdle muscular dystrophy lipoma lissencephaly liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lymphoma malignant pleural mesothelioma malignant teratoma mature teratoma melanoma multiple myeloma muscular dystrophy myelodysplastic syndrome myelofibrosis myeloproliferative disorder with eosinophilia myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nasopharynx carcinoma nephrocalcinosis nephrolithiasis neuroblastoma neurodegenerative disease non-Hodgkin lymphoma nonpapillary renal cell carcinoma nontoxic goiter obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete constipation obsolete ymphosarcoma obstructive lung disease oculopharyngeal muscular dystrophy osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peptic esophagitis periodontitis phosphorus metabolism disease placenta cancer pleomorphic lipoma primary biliary cholangitis primary hyperparathyroidism progressive muscular atrophy prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulosarcoma rhabdomyosarcoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing liposarcoma seminoma situs inversus skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal muscular atrophy steatotic liver disease stomach cancer stomach carcinoma subcortical band heterotopia substernal goiter teratoma testicular cancer testicular germ cell cancer testis seminoma thyroid gland disease trypanosomiasis tuberculosis tuberous sclerosis type 2 diabetes mellitus typhus ulcerative colitis uremia uric acid nephrolithiasis urinary bladder cancer uveal melanoma vitelliform macular dystrophy well-differentiated liposarcoma
248	alkaline phosphatase, intestinal	ALPI Aliases: IAP intestinal alkaline phosphatase	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 Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Pick's disease Q fever Reye syndrome X-linked lymphoproliferative syndrome 2 absence epilepsy acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia adult lymphoma amyotrophic lateral sclerosis type 1 autoimmune pancreatitis azoospermia bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system lymphoma cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood absence epilepsy childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congenital disorder of glycosylation diabetes mellitus diabetic ketoacidosis embryoma endemic goiter endometriosis of uterus endometriosis essential thrombocythemia fragile X syndrome giant cell glioblastoma glaucoma glioblastoma goiter hematologic cancer hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma large intestine cancer leukemia liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lymphoma malignant pleural mesothelioma melanoma multiple myeloma myelodysplastic syndrome myelofibrosis nasopharynx carcinoma neuroblastoma nonpapillary renal cell carcinoma obsolete ymphosarcoma obstructive lung disease osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma placenta cancer progressive muscular atrophy prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rhabdomyosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma spinal muscular atrophy substernal goiter thyroid gland disease trypanosomiasis tuberculosis type 2 diabetes mellitus typhus ulcerative colitis urinary bladder cancer uveal melanoma
249	alkaline phosphatase, biomineralization associated	ALPL Aliases: TNALP TNAP TNSALP tissue non-specific alkaline phosphatase	Homo sapiens (human)	ARC syndrome Ehlers-Danlos syndrome Laron syndrome Loeffler syndrome Werner syndrome achondroplasia acoustic neuroma adult hypophosphatasia allergic asthma anemia angiomatous meningioma ankylosing spondylitis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthrogryposis, renal dysfunction, and cholestasis 1 arthropathy asthma atherosclerosis autosomal recessive osteopetrosis 7 benign meningioma bone disease bone osteosarcoma breast cancer breast carcinoma calcinosis calcium metabolism disease campomelic dysplasia cancer cartilage disease cerebral convexity meningioma childhood hypophosphatasia chondrocalcinosis clear cell meningioma colitis connective tissue disease coronary artery disease craniosynostosis dental caries dentin caries depressive disorder diabetes mellitus dysthymic disorder embryoma embryonal carcinoma enophthalmos eosinophilic pneumonia epilepsy familial combined hyperlipidemia fibrous meningioma focal epilepsy gastroenteritis generalized anxiety disorder glomerulonephritis hereditary elliptocytosis hypercalcemia hyperostosis hyperphosphatemic familial tumoral calcinosis hypophosphatasia ileitis ileocolitis in situ carcinoma infantile hypophosphatasia inherited metabolic disorder intraorbital meningioma intraventricular meningioma intrinsic asthma keratosis follicularis kidney disease macrocytic anemia major depressive disorder melancholic depression meningioma meningothelial meningioma microcystic meningioma mongolian spot mucopolysaccharidosis IV multiple epiphyseal dysplasia musculoskeletal system disease nephritis nephrocalcinosis nephrolithiasis nephrosis neurotic disorder nutmeg liver obesity obsolete exophthalmos obsolete melancholia olfactory groove meningioma orbital disease osteoarthritis osteochondrodysplasia osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteomalacia osteopetrosis osteoporosis osteosarcoma osteosclerosis parasagittal meningioma partial motor epilepsy phobic disorder phosphorus metabolism disease pituitary adenoma polyhydramnios progeria prostate cancer prostate carcinoma psammomatous meningioma pseudoxanthoma elasticum pulmonary eosinophilia pyoureter rickets schizophrenia 10 schizophrenia secondary hyperparathyroidism secretory meningioma spinal meningioma steatotic liver disease transitional meningioma type 2 diabetes mellitus uremia uric acid nephrolithiasis visual epilepsy
55331	alkaline ceramidase 3	ACER3 Aliases: APHC FLJ11238 alkaline phytoceramidase	Homo sapiens (human)	Cauda equina syndrome Laron syndrome achondroplasia acute myeloid leukemia cerebellar ataxia cerebellar disease cerebral degeneration dystonia hepatocellular carcinoma intellectual disability learning disability leukodystrophy liver cancer melanoma metabolic dysfunction-associated steatohepatitis neurogenic bladder neuropathy peripheral nervous system disease skin melanoma
340485	alkaline ceramidase 2	ACER2 Aliases: ALKCDase2 FLJ41587	Homo sapiens (human)	arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer
125981	alkaline ceramidase 1	ACER1	Homo sapiens (human)	alopecia

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