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 **851 - 875** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▼
5223	phosphoglycerate mutase 1	PGAM1 Aliases: PGAM-B Phosphoglycerate mutase A, nonmuscle form	Homo sapiens (human)	Creutzfeldt-Jakob disease Sertoli cell-only syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 adenocarcinoma adenoma anaplastic astrocytoma anemia arthritis arthropathy bipolar disorder bladder carcinoma bone osteosarcoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer childhood cerebral astrocytoma childhood osteosarcoma colorectal cancer colorectal carcinoma cribriform carcinoma embryoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma juvenile pilocytic astrocytoma large intestine cancer leiomyoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia malaria malignant astrocytoma microphthalmia mixed glioma myofibroma obsolete Matthew-Wood syndrome oligospermia osteoarthritis osteosarcoma pancreatic ductal adenocarcinoma pilocytic astrocytoma prostate cancer prostate carcinoma protoplasmic astrocytoma sarcomatoid carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine fibroid
79644	steroid 5 alpha-reductase 3	SRD5A3 Aliases: 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)) FLJ13352 SRD5A2L SRD5A2L1 polyprenol reductase	Homo sapiens (human)	Creutzfeldt-Jakob disease Hailey-Hailey disease Kahrizi syndrome Marfan syndrome Rothmund-Thomson syndrome acquired hyperkeratosis agnosia angioma serpiginosum antithrombin III deficiency autistic disorder 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 bilateral optic nerve hypoplasia blindness capillary hemangioma cataract cavernous hemangioma cerebellar ataxia cerebellar disease coloboma congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation congenital hypothyroidism congenital nystagmus craniosynostosis cutis laxa dermatitis developmental coordination disorder dissociated nystagmus epilepsy eye disease fundus dystrophy glaucoma hypertrichosis hypothyroidism ichthyosis inguinal hernia intellectual disability isolated cleft palate isolated growth hormone deficiency learning disability mal de Meleda microcytic anemia microphthalmia myxedema nonepidermolytic palmoplantar keratoderma obsolete infantile epileptic encephalopathy optic atrophy palmoplantar keratosis pathologic nystagmus pituitary hypoplasia prostate cancer prostate carcinoma protein C deficiency protein S deficiency recurrent corneal erosion restrictive dermopathy situs inversus spontaneous ocular nystagmus syndromic X-linked intellectual disability 94 thrombophilia tuberous sclerosis visual epilepsy
4190	malate dehydrogenase 1	MDH1	Homo sapiens (human)	Creutzfeldt-Jakob disease Gerstmann-Straussler-Scheinker syndrome X-linked dilated cardiomyopathy adult respiratory distress syndrome amyotrophic lateral sclerosis cancer cone-rod dystrophy developmental and epileptic encephalopathy 88 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 embryoma fatal familial insomnia fundus albipunctatus lung cancer lung non-small cell carcinoma microphthalmia newborn respiratory distress syndrome obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma progressive muscular atrophy retinitis pigmentosa schizophrenia
2581	galactosylceramidase	GALC Aliases: Krabbe disease	Homo sapiens (human)	Creutzfeldt-Jakob disease Evans' syndrome Fabry disease Farber lipogranulomatosis Gaucher's disease Krabbe disease Mycoplasma pneumoniae pneumonia Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wolman disease amblyopia autoimmune thrombocytopenic purpura bipolar disorder blindness bronchus cancer bronchus carcinoma cancer cerebellar ataxia cerebellar disease chronic obstructive pulmonary disease chylomicron retention disease communicating hydrocephalus congenital nystagmus demyelinating disease depressive disorder disease of metabolism dissociated nystagmus dysthymic disorder embryoma epilepsy glycogen storage disease II head and neck cancer head and neck squamous cell carcinoma hydrocephalus hypertropia inflammatory bowel disease laryngeal disease late onset Parkinson's disease leukodystrophy lipid storage disease low tension glaucoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease major depressive disorder mechanical strabismus melancholic depression melanoma metachromatic leukodystrophy multiple sclerosis nasopharynx carcinoma neurodegenerative disease neurotic disorder obsolete melancholia obstructive hydrocephalus ophthalmoplegia optic atrophy osteomalacia paraplegia pathologic nystagmus placental insufficiency primary open angle glaucoma relapsing fever rickets schizophrenia senile degeneration of brain sensorineural hearing loss sphingolipidosis spontaneous ocular nystagmus squamous cell carcinoma status epilepticus strabismic amblyopia strabismus systemic lupus erythematosus tongue squamous cell carcinoma tracheal disease visual epilepsy
207	AKT serine/threonine kinase 1	AKT1	Homo sapiens (human)	Cowden syndrome 6 Parkinson's disease Proteus syndrome alcohol use disorder autosomal recessive polycystic kidney disease bipolar disorder brain ischemia breast cancer cancer chronic myeloid leukemia colon cancer colorectal cancer diabetic retinopathy esophageal cancer esophagus squamous cell carcinoma hepatocellular carcinoma hypertension idiopathic pulmonary fibrosis impotence in situ carcinoma intermediate coronary syndrome invasive ductal carcinoma lung non-small cell carcinoma malignant astrocytoma myocardial infarction ovarian cancer pancreatic cancer pancreatic intraductal papillary-mucinous neoplasm paraplegia prostate adenocarcinoma prostate cancer pulmonary tuberculosis renal cell carcinoma schizophrenia type 2 diabetes mellitus ureteral obstruction urinary bladder cancer vulva cancer
1737	dihydrolipoamide S-acetyltransferase	DLAT Aliases: E2 E2 component of pyruvate dehydrogenase complex PDC-E2 dihydrolipoyllysine-residue acetyltransferase	Homo sapiens (human)	Cogan syndrome Sjogren's syndrome acute myeloid leukemia adrenoleukodystrophy angioimmunoblastic T-cell lymphoma ankylosing spondylitis arteriovenous malformation autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome basal ganglia disease bile duct adenocarcinoma bile duct cancer bile duct carcinoma blepharospasm breast cancer breast carcinoma cholangiocarcinoma cholestasis congenital nystagmus congenital ptosis coronary artery disease diabetes mellitus diabetic ketoacidosis diffuse interstitial keratitis dissociated nystagmus dystonia focal hand dystonia gallbladder disease head and neck squamous cell carcinoma hepatitis A hepatitis hepatocellular carcinoma immune system disease influenza keratoconjunctivitis sicca lactic acidosis leukemia liver cancer liver cirrhosis liver disease lupus erythematosus microcephaly obsolete type 1 diabetes mellitus 9 parapsoriasis pathologic nystagmus placental insufficiency primary biliary cholangitis primary sclerosing cholangitis psoriasis psoriatic arthritis ptosis pustulosis of palm and sole pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency scleroderma sclerosing cholangitis spontaneous ocular nystagmus steatotic liver disease systemic lupus erythematosus systemic scleroderma 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 vascular disease
55768	N-glycanase 1	NGLY1 Aliases: FLJ11005 PNG-1 PNG1 peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase peptide:N-glycanase	Homo sapiens (human)	Cogan syndrome NGLY1-deficiency Unverricht-Lundborg syndrome West syndrome alternating exotropia amyotrophic lateral sclerosis anhidrosis antithrombin III deficiency atrophic gastritis blepharospasm cancer cerebral degeneration choreatic disease cone-rod dystrophy congenital afibrinogenemia congenital ptosis corneal neovascularization corneal ulcer craniosynostosis critical illness polyneuropathy diffuse interstitial keratitis early myoclonic encephalopathy embryoma epilepsy exotropia factor V deficiency factor VII deficiency focal epilepsy focal hand dystonia fundus albipunctatus hydrocephalus hypertropia hypohidrosis inflammatory and toxic neuropathy lingual-facial-buccal dyskinesia mechanical strabismus melanoma meningoencephalitis microcephaly monocular exotropia movement disease neuropathy obsolete infantile epileptic encephalopathy obstructive sleep apnea ophthalmoplegia optic atrophy osteoporosis peripheral nervous system disease placental insufficiency polyneuropathy progressive muscular atrophy protein C deficiency protein S deficiency ptosis recurrent corneal erosion retinitis pigmentosa scoliosis skin melanoma stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability type 10 thrombophilia visual epilepsy
224	aldehyde dehydrogenase 3 family member A2	ALDH3A2 Aliases: FALDH fatty aldehyde dehydrogenase	Homo sapiens (human)	Cogan syndrome Laron syndrome Senior-Loken syndrome Sjogren-Larsson syndrome X-linked adrenal hypoplasia congenita achondroplasia acquired hyperkeratosis acrodermatitis age related macular degeneration allergic asthma alternating hemiplegia of childhood angioedema asthma autonomic neuropathy autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis central nervous system disease cerebral palsy cone-rod dystrophy corneal disease degeneration of macula and posterior pole dental enamel hypoplasia dermatitis diabetic ketoacidosis epilepsy ethylmalonic encephalopathy fundus albipunctatus granuloma annulare hepatitis B ichthyosis intellectual disability intrinsic asthma keratoconus keratosis follicularis learning disability lipid metabolism disorder localized scleroderma locked-in syndrome lung cancer lung non-small cell carcinoma macular degeneration microcephaly mongolian spot mucopolysaccharidosis IV multiple epiphyseal dysplasia myopia nephronophthisis nervous system disease normal pressure hydrocephalus obsolete asthenopia obsolete congenital ichthyosiform erythroderma obsolete type 1 diabetes mellitus 9 osteochondrodysplasia papilloma paraplegia pseudoxanthoma elasticum quadriplegia retinal disease retinitis pigmentosa retinitis scleroderma scoliosis spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy squamous cell papilloma squamous papillomatosis systemic scleroderma 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 urticaria visual epilepsy
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
84992	phosphatidylinositol glycan anchor biosynthesis class Y	PIGY Aliases: MGC14156 PIG-Y Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y	Homo sapiens (human)	Cogan syndrome Hirschsprung's disease Marfan syndrome Unverricht-Lundborg syndrome blepharospasm capillary disease craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hyperphosphatasia with impaired intellectual development syndrome 6 hypertropia inguinal hernia isolated elevated serum creatine phosphokinase levels mechanical strabismus microcephaly monocular esotropia oligohydramnios ophthalmoplegia polyhydramnios scoliosis situs inversus strabismus syndromic X-linked intellectual disability 94 telangiectasis tuberous sclerosis visual epilepsy
55650	phosphatidylinositol glycan anchor biosynthesis class V	PIGV Aliases: FLJ20477 GPI mannosyltransferase 2 GPI-MT-II PIG-V dol-P-Man dependent GPI mannosyltransferase II	Homo sapiens (human)	Cogan syndrome Hirschsprung's disease Marfan syndrome Unverricht-Lundborg syndrome anorectal stricture blepharospasm capillary disease congenital heart disease craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hyperphosphatasia with impaired intellectual development syndrome 1 intellectual disability learning disability monocular esotropia oligohydramnios pyridoxine deficiency anemia scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability 94 telangiectasis tuberous sclerosis visual epilepsy
84720	phosphatidylinositol glycan anchor biosynthesis class O	PIGO Aliases: DKFZp434M222 FLJ00135 PIG-O	Homo sapiens (human)	Cogan syndrome Hirschsprung's disease Marfan syndrome Unverricht-Lundborg syndrome absence epilepsy blepharospasm capillary disease childhood absence epilepsy cleft palate colorectal cancer colorectal carcinoma craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hyperphosphatasia with impaired intellectual development syndrome 2 imperforate anus intellectual disability isolated cleft palate large intestine cancer learning disability monocular esotropia nonepidermolytic palmoplantar keratoderma oligohydramnios palmoplantar keratosis scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability 94 telangiectasis tuberous sclerosis visual epilepsy
93210	post-GPI attachment to proteins phospholipase 3	PGAP3 Aliases: CAB2 MGC9753 PER1 PP1498 post-GPI attachment to proteins 3	Homo sapiens (human)	Cogan syndrome Crohn's colitis Crohn's disease Hirschsprung's disease Marfan syndrome Unverricht-Lundborg syndrome allergic asthma asthma bipolar disorder blepharospasm breast cancer breast carcinoma bruxism capillary disease congenital diaphragmatic hernia congenital disorder of glycosylation craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hyperphosphatasia with impaired intellectual development syndrome 4 inflammatory bowel disease 1 inflammatory bowel disease intellectual disability intrinsic asthma isolated cleft palate learning disability lingual-facial-buccal dyskinesia monocular esotropia movement disease oligohydramnios scoliosis situs inversus stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 telangiectasis tuberous sclerosis ulcerative colitis visual epilepsy
54675	cardiolipin synthase 1	CRLS1 Aliases: CLS1 GCD10 GCD10 homolog (S. cerevisiae) dJ967N21.6	Homo sapiens (human)	Coffin-Lowry syndrome adenosarcoma bilateral breast cancer breast cancer breast ductal carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer colitis combined oxidative phosphorylation deficiency 57 depressive disorder dysthymic disorder gastroenteritis hepatitis C hepatocellular carcinoma ileitis ileocolitis liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder mastitis melancholic depression microglandular adenosis nephroblastoma neurotic disorder obsolete melancholia paroxysmal nocturnal hemoglobinuria schizophrenia vascular dementia
5160	pyruvate dehydrogenase E1 subunit alpha 1	PDHA1 Aliases: E1alpha pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	Homo sapiens (human)	Coffin-Lowry syndrome Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease West syndrome abdominal obesity-metabolic syndrome 1 anemia arthritis arthropathy basal ganglia disease bile duct adenocarcinoma bile duct carcinoma blepharospasm cancer carcinoma cardiomyopathy cerebellar ataxia cerebellar disease cerebral degeneration cerebral palsy cholangiocarcinoma communicating hydrocephalus cone-rod dystrophy congenital nystagmus congenital ptosis coronary artery disease disease of metabolism dissociated nystagmus dystonia embryoma endomyocardial fibrosis epilepsy episodic ataxia esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial hypertrophic cardiomyopathy fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome focal hand dystonia fundus albipunctatus generalized dystonia head and neck squamous cell carcinoma hemiplegia hepatocellular carcinoma hydrocephalus hypertrichosis hypertrophic cardiomyopathy hypertropia inherited metabolic disorder intellectual disability intrahepatic cholangiocarcinoma lactic acidosis learning disability leukodystrophy lingual-facial-buccal dyskinesia liver cancer macrocytic anemia mechanical strabismus microcephaly mitochondrial metabolism disease mitochondrial myopathy movement disease neuropathy obsolete infantile epileptic encephalopathy obstructive hydrocephalus ophthalmoplegia optic atrophy osteoarthritis pathologic nystagmus peripheral nervous system disease placental insufficiency prostate cancer prostate carcinoma ptosis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency retinal degeneration retinitis pigmentosa sarcomatoid carcinoma senile degeneration of brain sensorineural hearing loss spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ventricular septal defect visual epilepsy
2653	glycine cleavage system protein H	GCSH Aliases: lipoic acid-containing protein	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Unverricht-Lundborg syndrome X-linked Aarskog syndrome amino acid metabolic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome blepharospasm brain disease breast cancer breast carcinoma cancer central nervous system lymphoma chondrodysplasia-pseudohermaphroditism syndrome early myoclonic encephalopathy embryoma epilepsy focal hand dystonia glycine encephalopathy intellectual disability learning disability lymphoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II multiple mitochondrial dysfunctions syndrome obsolete ymphosarcoma schizophrenia urea cycle disorder visual epilepsy
2348	folate receptor alpha	FOLR1 Aliases: FRα	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Rett syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Stevens-Johnson syndrome X-linked Aarskog syndrome acoustic neuroma acute myocardial infarction adult medulloblastoma alcohol dependence alcohol use disorder angiomatous meningioma autism spectrum disorder autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome benign meningioma benign mesothelioma bone osteosarcoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral convexity meningioma cerebral folate receptor alpha deficiency cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood medulloblastoma chondrodysplasia-pseudohermaphroditism syndrome clear cell meningioma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis embryoma endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma epilepsy erythema multiforme familial retinoblastoma fibrous meningioma giant cell glioblastoma glioblastoma hepatocellular carcinoma hyperhomocysteinemia intraorbital meningioma intraventricular meningioma large intestine cancer liver cancer lung cancer lung carcinoma malignant mesothelioma malignant pleural mesothelioma medulloblastoma medullomyoblastoma melanotic medulloblastoma meningioma meningothelial meningioma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic meningioma multiple myeloma myelomeningocele myocardial infarction nasopharynx carcinoma neuropathy olfactory groove meningioma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma parasagittal meningioma peripheral nervous system disease phototoxic dermatitis pituitary adenoma psammomatous meningioma retinoblastoma sarcomatoid carcinoma secretory meningioma silent myocardial infarction spina bifida spinal meningioma stomach cancer stomach carcinoma tethered spinal cord syndrome transitional meningioma trilateral retinoblastoma uterine cancer uterine corpus cancer
570	bile acid-CoA:amino acid N-acyltransferase	BAAT Aliases: BAT glycine N-choloyltransferase	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Ehlers-Danlos syndrome Graves' disease Hantavirus hemorrhagic fever with renal syndrome Lynch syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma atypical hemolytic-uremic syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bacterial sepsis basal cell carcinoma blood coagulation disease breast cancer breast carcinoma cancer carcinoma cervical cancer cholestasis chondrodysplasia-pseudohermaphroditism syndrome colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism coronary thrombosis diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis familial hypercholesterolemia fibroepithelial basal cell carcinoma follicular adenoma giant cell glioblastoma glioblastoma hemolytic-uremic syndrome hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperthyroidism hypothyroidism infertility islet cell tumor large intestine cancer lipoma lung cancer lung non-small cell carcinoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma morbid obesity myelodysplastic syndrome myocardial infarction myxedema obesity obsolete inherited blood coagulation disease obsolete steatorrhea obsolete type 1 diabetes mellitus 9 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 papillary adenoma pleomorphic lipoma pneumonia polycystic ovary syndrome prostate cancer prostate carcinoma rickets sarcomatoid carcinoma silent myocardial infarction steatotic liver disease stomach cancer stomach carcinoma thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma thyrotoxicosis 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 uterine corpus cancer von Willebrand's disease 1 von Willebrand's disease 3 von Willebrand's disease
11285	beta-1,4-galactosyltransferase 7	B4GALT7 Aliases: XGALT-1 beta4Gal-T7 galactosyltransferase I	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Ehlers-Danlos syndrome spondylodysplastic type 1 Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease IgA glomerulonephritis Laron syndrome Larsen-like syndrome B3GAT3 type 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 Rothmund-Thomson syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome achondroplasia aortic valve disease 2 aortic valve stenosis arthritis arthropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive Robinow syndrome 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 bone disease cartilage disease chondrodysplasia-pseudohermaphroditism syndrome cleidocranial dysplasia clubfoot colitis collagen disease coloboma congenital disorder of glycosylation type IId congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 connective tissue disease cryptorchidism cutis laxa enophthalmos gastroenteritis gingivitis hepatocellular carcinoma humeroradial synostosis ileitis ileocolitis lipoatrophic diabetes mellitus lipodystrophy liver cancer mal de Meleda microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II mucopolysaccharidosis IV multiple epiphyseal dysplasia obsolete exophthalmos orbital disease osteoarthritis osteochondrodysplasia osteogenesis imperfecta pulmonary valve stenosis radioulnar synostosis restrictive dermopathy rheumatoid arthritis scoliosis skin disease spermatic cord torsion trichohepatoenteric syndrome 1 trichohepatoenteric syndrome
64132	xylosyltransferase 2	XYLT2 Aliases: PXYLT2 XT-II protein xylosyltransferase 2	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome Desbuquois dysplasia Dubowitz syndrome Ewing sarcoma Gilbert syndrome Meckel syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome T-cell acute lymphoblastic leukemia X-linked Aarskog syndrome acute biphenotypic leukemia acute leukemia acute myocardial infarction age related macular degeneration amblyopia angioid streaks 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 Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome bacterial infectious disease bilirubin metabolic disorder bladder carcinoma blindness brain stem infarction cancer cannabis abuse cannabis dependence cataract cerebral artery occlusion cerebral infarction cerebrovascular disease cholera chondrodysplasia-pseudohermaphroditism syndrome chronic kidney disease chronic monocytic leukemia chronic myelomonocytic leukemia clubfoot congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congestive heart failure coronary thrombosis degeneration of macula and posterior pole depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus dysthymic disorder embryoma essential hypertension gallbladder disease glomerulonephritis hepatic veno-occlusive disease hepatitis B herpes simplex hypertension intellectual disability intermittent claudication juvenile myelomonocytic leukemia keratosis follicularis kidney disease kidney failure learning disability lichen disease lipoatrophic diabetes mellitus lipodystrophy liver disease localized scleroderma macular degeneration major depressive disorder melancholic depression microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microphthalmia mitral valve insufficiency mitral valve prolapse mitral valve stenosis mongolian spot myocardial infarction myopia nephritis nephrosis neurotic disorder obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 osteoporosis papilloma patent foramen ovale pathologic nystagmus pleomorphic adenoma pneumocystosis polycystic kidney disease postural orthostatic tachycardia syndrome pseudoxanthoma elasticum psoriatic arthritis pyoureter restrictive cardiomyopathy retinal detachment scleroderma sensorineural hearing loss silent myocardial infarction skin benign neoplasm skin cancer spontaneous ocular nystagmus squamous cell papilloma steatotic liver disease strabismic amblyopia systemic scleroderma thrombocytopenia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome 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 urinary bladder cancer ventricular septal defect viral infectious disease xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
5224	phosphoglycerate mutase 2	PGAM2 Aliases: PGAM-M	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome D-bifunctional protein deficiency Dubowitz syndrome Greig cephalopolysyndactyly syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome cancer carnitine palmitoyltransferase I deficiency chondrodysplasia-pseudohermaphroditism syndrome cystinuria disease of metabolism endometrial cancer endometrial carcinoma familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease isolated elevated serum creatine phosphokinase levels kidney failure microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II myoglobinuria myopathy prostate cancer prostate carcinoma pseudosarcomatous fibromatosis uterine corpus cancer
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
8658	tankyrase	TNKS Aliases: ARTD5 PARP-5a PARP5A TIN1 TINF1 TNKS1 TRF1-interacting ankyrin-related ADP-ribose polymerase 1 pART5	Homo sapiens (human)	Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome acoustic neuroma acute myeloid leukemia adenocarcinoma adenoma adult hepatocellular carcinoma adult medulloblastoma amyotrophic lateral sclerosis anaplastic astrocytoma angiomatous meningioma arthritis arthropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome benign meningioma bladder carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral convexity meningioma cerebral infarction cerebrovascular disease cherubism childhood cerebral astrocytoma childhood hepatocellular carcinoma childhood medulloblastoma childhood osteosarcoma chondrodysplasia-pseudohermaphroditism syndrome clear cell meningioma cleft lip colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma depressive disorder embryoma exostosis familial adenomatous polyposis 1 familial adenomatous polyposis fibrillary astrocytoma fibrous meningioma gemistocytic astrocytoma giant cell glioblastoma glioblastoma granular cell carcinoma hepatocellular carcinoma herpes simplex high grade glioma inflammatory liposarcoma inherited metabolic disorder insulinoma intraorbital meningioma intraventricular meningioma islet cell tumor juvenile pilocytic astrocytoma large intestine cancer liver cancer lung acinar adenocarcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacyte-rich meningioma major depressive disorder malignant astrocytoma medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma meningioma meningothelial meningioma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic meningioma monoclonal gammopathy of uncertain significance multiple myeloma neuroblastoma neurotic disorder obesity obsolete melancholia olfactory groove meningioma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma parasagittal meningioma pilocytic astrocytoma pituitary adenoma progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma sarcomatoid carcinoma sclerosing liposarcoma secretory meningioma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tarsal-carpal coalition syndrome transitional cell carcinoma transitional meningioma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tubular adenocarcinoma urinary bladder cancer well-differentiated liposarcoma
1486	chitobiase	CTBS Aliases: di-N-acetylchitobiase	Homo sapiens (human)	Clouston syndrome allergic rhinitis amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer cholera colon cancer colon carcinoma colonic benign neoplasm colorectal cancer hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer liver cancer progressive muscular atrophy prostate cancer prostate carcinoma ulcerative colitis vasomotor rhinitis
247	arachidonate 15-lipoxygenase type B	ALOX15B Aliases: 15-LOX-2	Homo sapiens (human)	Clouston syndrome adenocarcinoma adenoma adrenal adenoma adrenal cortex cancer allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma diabetic ketoacidosis embryoma esophageal cancer esophageal carcinoma essential hypertension granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma hypertension intrinsic asthma large intestine cancer lung cancer lung carcinoma lung non-small cell carcinoma nodular prostate nutmeg liver obsolete type 1 diabetes mellitus 9 parapsoriasis prostate adenocarcinoma prostate cancer prostate carcinoma prostatic adenoma psoriasis pustulosis of palm and sole sarcomatoid carcinoma tubular adenocarcinoma 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

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