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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 **2201 - 2225** of **393515** 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
449649	galactosylceramidase a	galca	Danio rerio (zebrafish)	Creutzfeldt-Jakob disease Krabbe disease Mycoplasma pneumoniae pneumonia
446948	galactosylceramidase L homeolog	galc.L	Xenopus laevis (African clawed frog)	Creutzfeldt-Jakob disease Krabbe disease Mycoplasma pneumoniae pneumonia
183002	Putative galactocerebrosidase	C29E4.10	Caenorhabditis elegans	Creutzfeldt-Jakob disease Krabbe disease Mycoplasma pneumoniae pneumonia melanoma
14420	galactosylceramidase	Galc	Mus musculus (house mouse)	Creutzfeldt-Jakob disease Krabbe disease Mycoplasma pneumoniae pneumonia melanoma
779723	galactosylceramidase	galc	Xenopus tropicalis (tropical clawed frog)	Creutzfeldt-Jakob disease Krabbe disease Mycoplasma pneumoniae pneumonia melanoma
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
399170	AKT serine/threonine kinase 1 S homeolog	akt1.S	Xenopus laevis (African clawed frog)	Cowden syndrome 6 Parkinson's disease Proteus syndrome bipolar disorder breast cancer chronic myeloid leukemia colon cancer colorectal cancer esophageal cancer esophagus squamous cell carcinoma idiopathic pulmonary fibrosis 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 prostate adenocarcinoma prostate cancer pulmonary tuberculosis renal cell carcinoma schizophrenia urinary bladder cancer vulva cancer
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
11651	thymoma viral proto-oncogene 1	Akt1	Mus musculus (house mouse)	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
24185	AKT serine/threonine kinase 1	Akt1	Rattus norvegicus (Norway rat)	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
853371	cohesin subunit SMC3	SMC3	Saccharomyces cerevisiae S288C	Cornelia de Lange syndrome 3 Cornelia de Lange syndrome hepatocellular carcinoma intellectual disability
32627	Structural maintenance of chromosomes 3	SMC3	Drosophila melanogaster (fruit fly)	Cornelia de Lange syndrome 3 Cornelia de Lange syndrome hepatocellular carcinoma intellectual disability
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

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