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 **901 - 925** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▼
9517	serine palmitoyltransferase long chain base subunit 2	SPTLC2 Aliases: KIAA0526 LCB2 LCB2A hLCB2a	Homo sapiens (human)	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 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 acute myocardial infarction agenesis of the corpus callosum with peripheral neuropathy anhidrosis cancer coronary thrombosis diarrhea hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory and autonomic neuropathy type 1C hereditary sensory and autonomic neuropathy type 2 hereditary sensory neuropathy hypohidrosis liver cancer motor peripheral neuropathy myocardial infarction neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum osteomyelitis parapsoriasis peripheral nervous system disease psoriasis pustulosis of palm and sole sensory peripheral neuropathy silent myocardial infarction teratocarcinoma
821	calnexin	CANX Aliases: CNX IP90 P90 major histocompatibility complex class I antigen-binding protein p88	Homo sapiens (human)	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 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 Lyme disease MASA syndrome Marfan syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 absence epilepsy acute myocardial infarction adult medulloblastoma agenesis of the corpus callosum with peripheral neuropathy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system lymphoma cervical squamous cell carcinoma cervix uteri carcinoma in situ childhood absence epilepsy childhood medulloblastoma childhood osteosarcoma cone-rod dystrophy coronary artery disease coronary thrombosis diabetes mellitus diabetic angiopathy diabetic ketoacidosis embryoma exanthema subitum fundus albipunctatus giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 high grade glioma hyperinsulinism interstitial lung disease keratosis follicularis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lymphoma measles medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma mongolian spot monoclonal gammopathy of uncertain significance motor peripheral neuropathy mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple myeloma multiple sclerosis myocardial infarction nephrogenic diabetes insipidus neuropathy nodular prostate obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum oculocutaneous albinism type IA oculocutaneous albinism osteosarcoma peripheral nervous system disease platelet-type bleeding disorder 11 platelet-type bleeding disorder 3 platelet-type bleeding disorder 8 platelet-type bleeding disorder 9 polyneuropathy post-traumatic stress disorder progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma pseudoachondroplasia pseudoxanthoma elasticum renal tubular acidosis retinitis pigmentosa rubella silent myocardial infarction situs inversus skin melanoma spinal muscular atrophy stomach cancer stomach carcinoma tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus vitiligo von Willebrand's disease
5236	phosphoglucomutase 1	PGM1	Homo sapiens (human)	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 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 Laron syndrome Marfan syndrome NGLY1-deficiency Plasmodium falciparum malaria Plasmodium vivax malaria X-linked dilated cardiomyopathy achondroplasia actinic keratosis agenesis of the corpus callosum with peripheral neuropathy cancer cardiomyopathy cleft palate colorectal cancer colorectal carcinoma congenital disorder of glycosylation It congenital disorder of glycosylation type I congenital disorder of glycosylation coronary artery disease cystinuria diabetes mellitus diabetic ketoacidosis 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 disease of metabolism embryoma endometrial cancer endomyocardial fibrosis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial periodic paralysis galactosemia gestational trophoblastic neoplasm 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 V glycogen storage disease hepatitis hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hyperinsulinemic hypoglycemia hypertrophic cardiomyopathy hypoglycemia isolated cleft palate large intestine cancer liver cancer localized scleroderma lupus nephritis malaria malignant teratoma mature teratoma mood disorder motor peripheral neuropathy myopathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete type 1 diabetes mellitus 9 papillary adenocarcinoma papillary renal cell carcinoma phenylketonuria psoriatic arthritis rheumatoid arthritis scleroderma seborrheic keratosis sick sinus syndrome situs inversus skin disease steatotic liver disease systemic lupus erythematosus systemic scleroderma teratoma thyroid gland papillary carcinoma tuberculosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus
5230	phosphoglycerate kinase 1	PGK1	Homo sapiens (human)	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 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 Gilbert syndrome Kawasaki disease Menkes disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wiskott-Aldrich syndrome X-linked cleft palate with or without ankyloglossia X-linked distal spinal muscular atrophy 3 X-linked dystonia-parkinsonism X-linked severe combined immunodeficiency adenosquamous carcinoma agenesis of the corpus callosum with peripheral neuropathy amyotrophic lateral sclerosis anaplastic astrocytoma anemia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome bilirubin metabolic disorder blindness brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system cancer childhood cerebral astrocytoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency congestive heart failure cystinuria embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma essential thrombocythemia familial periodic paralysis fibrillary astrocytoma fundus dystrophy galactosemia gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma 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 hemolytic anemia hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hereditary spherocytosis high grade glioma hypertrophic cardiomyopathy hypohidrotic ectodermal dysplasia intellectual disability juvenile pilocytic astrocytoma kidney failure large intestine cancer learning disability liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus macrocytic anemia malignant astrocytoma melanoma microphthalmia migraine mixed glioma motor peripheral neuropathy myelodysplastic syndrome myoglobinuria myopathy neuroblastoma nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum occipital horn syndrome ovarian cancer ovarian carcinoma oxyphilic adenoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary renal cell carcinoma phosphoglycerate kinase 1 deficiency pilocytic astrocytoma progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma pseudosarcomatous fibromatosis pulmonary large cell neuroendocrine carcinoma pure red-cell aplasia renal carcinoma renal cell carcinoma retinitis pigmentosa 10 rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia skin melanoma spinal muscular atrophy stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus thyroid gland papillary carcinoma uterine corpus cancer visual epilepsy
9896	FIG4 phosphoinositide 5-phosphatase	FIG4 Aliases: ALS11 CMT4J SAC3 dJ249I4.1 hSac3	Homo sapiens (human)	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 4 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 Joubert syndrome Laron syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Papillon-Lefevre disease Yunis-Varon syndrome achondroplasia agenesis of the corpus callosum with peripheral neuropathy amyotrophic lateral sclerosis type 11 amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease anxiety disorder 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 recessive distal hereditary motor neuronopathy 1 bilateral parasagittal parieto-occipital polymicrogyria breast cancer breast carcinoma cardiomyopathy cataract communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cortical dysplasia-focal epilepsy syndrome cryptorchidism demyelinating disease demyelinating polyneuropathy depressive disorder distal arthrogryposis dysthymic disorder endomyocardial fibrosis enophthalmos epilepsy essential hypertension generalized anxiety disorder gingival recession gliosarcoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 2 hereditary spastic paraplegia 7 high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hypertension hypertrophic cardiomyopathy hypospadias laryngostenosis lateral sclerosis lissencephaly lysosomal storage disease major depressive disorder melancholic depression microcephaly mixed glioma motor neuron disease motor peripheral neuropathy neuroblastoma neurodegenerative disease neuropathy neurotic disorder obsolete exophthalmos obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia obstructive hydrocephalus orbital disease patent foramen ovale peripheral nervous system disease placental insufficiency polyhydramnios polyneuropathy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary pulmonary hypertension progressive muscular atrophy pyloric stenosis renal artery obstruction renovascular hypertension sclerocornea senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus status epilepticus subacute delirium syndactyly syndromic X-linked intellectual disability Najm type tetralogy of Fallot tuberous sclerosis ventricular septal defect
7021	transcription factor AP-2 beta	TFAP2B	Homo sapiens (human)	Char syndrome angle-closure glaucoma patent ductus arteriosus sleep disorder
8694	diacylglycerol O-acyltransferase 1	DGAT1 Aliases: ARGP1	Homo sapiens (human)	Chanarin-Dorfman syndrome alopecia amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive congenital ichthyosis 1 cancer cardiomyopathy celiac disease chronic fatigue syndrome chronic kidney disease chylomicron retention disease congenital diarrhea 5 with tufting enteropathy congenital diarrhea 6 congenital diarrhea 7 with exudative enteropathy congenital malabsorptive diarrhea 4 congenital secretory sodium diarrhea 3 congenital secretory sodium diarrhea 8 congestive heart failure coronary artery disease diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism encephalitis encephalomyelitis familial hyperlipidemia familial lipoprotein lipase deficiency familial nephrotic syndrome familial periodic paralysis gastrointestinal system disease gestational diabetes glucose intolerance hepatitis C hyperlipoproteinemia type V ichthyosis intestinal disease keratosis follicularis kwashiorkor leech infestation lipid metabolism disorder lipoid nephrosis lupus erythematosus marasmus mastitis microvillus inclusion disease mongolian spot myelitis myiasis myopathy nephrotic syndrome nutrition disease obesity obsolete congenital ichthyosiform erythroderma phototoxic dermatitis prediabetes syndrome progressive muscular atrophy prostate cancer prostate carcinoma protein-energy malnutrition protein-losing enteropathy pseudoxanthoma elasticum steatotic liver disease systemic lupus erythematosus toxoplasmosis tropical sprue type 2 diabetes mellitus
80339	patatin like phospholipase domain containing 3	PNPLA3 Aliases: FLJ22012 adiponutrin dJ796I17.1 iPLA2epsilon	Homo sapiens (human)	Chanarin-Dorfman syndrome Phelan-McDermid syndrome Wernicke-Korsakoff syndrome Wilson disease Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acquired metabolic disease acute lymphoblastic leukemia adrenoleukodystrophy adult hepatocellular carcinoma adult liposarcoma alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis bipolar disorder cancer cardiovascular system disease carotid artery disease celiac disease childhood hepatocellular carcinoma childhood liposarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease congenital hypothyroidism coronary artery disease diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma familial hyperlipidemia gallbladder disease gestational diabetes glucose intolerance heart disease hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatocellular carcinoma human immunodeficiency virus infectious disease hyperglycemia hyperinsulinism hypertrophic cardiomyopathy 1 hypothyroidism inflammatory bowel disease intrahepatic cholestasis of pregnancy intrinsic asthma iron metabolism disease kidney failure liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease lymphoblastic lymphoma metabolic dysfunction-associated steatotic liver disease mood disorder morbid obesity myxedema obesity obsolete type 1 diabetes mellitus 9 osteoarthritis pleomorphic liposarcoma polycystic ovary syndrome portal hypertension prediabetes syndrome premenstrual tension primary biliary cholangitis primary sclerosing cholangitis sclerosing cholangitis steatotic liver disease 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 viral infectious disease
1376	carnitine palmitoyltransferase 2	CPT2 Aliases: CPTASE	Homo sapiens (human)	Chanarin-Dorfman syndrome Meckel syndrome Pearson syndrome Reye syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis attention deficit hyperactivity disorder autosomal dominant polycystic kidney disease beta thalassemia brain disease brain edema breast cancer breast carcinoma cancer carcinoma cardiomyopathy carnitine palmitoyltransferase I deficiency carnitine palmitoyltransferase II deficiency cataract chronic fatigue syndrome chronic kidney disease clubfoot colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis 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 disease of metabolism embryoma encephalitis encephalomyelitis endomyocardial fibrosis epilepsy essential thrombocythemia familial hyperlipidemia familial periodic paralysis fibromyalgia glycogen storage disease II glycogen storage disease V hepatitis C hepatitis hepatocellular carcinoma hydrocephalus hydronephrosis hyperglycemia hypertrophic cardiomyopathy hypoglycemia influenza isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer lipid metabolism disorder liver cancer liver cirrhosis medium chain acyl-CoA dehydrogenase deficiency microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency multiple acyl-CoA dehydrogenase deficiency muscular disease myelitis myelodysplastic syndrome myocardial infarction myoglobinuria myopathy myositis neurogenic arthropathy neuroleptic malignant syndrome obesity ovarian cancer pancytopenia placental insufficiency polycystic ovary syndrome primary pulmonary hypertension prostate cancer prostate carcinoma pseudosarcomatous fibromatosis psoriatic arthritis sarcomatoid carcinoma sick sinus syndrome silent myocardial infarction status epilepticus steatotic liver disease systemic primary carnitine deficiency disease thalassemia type 2 diabetes mellitus urea cycle disorder very long chain acyl-CoA dehydrogenase deficiency viral infectious disease visual epilepsy
9663	lipin 2	LPIN2 Aliases: KIAA0249	Homo sapiens (human)	Chanarin-Dorfman syndrome Crohn's colitis Crohn's disease Diamond-Blackfan anemia SAPHO syndrome acne agranulocytosis allergic asthma anemia asthma autosomal recessive congenital ichthyosis 1 autosomal recessive osteopetrosis 7 cancer chronic recurrent multifocal osteomyelitis congenital dyserythropoietic anemia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypoplastic anemia congestive heart failure dermatitis diabetes mellitus diabetic ketoacidosis disease of metabolism familial mediterranean fever familial periodic paralysis fibromyalgia gastrointestinal system disease glomerulonephritis granular corneal dystrophy 2 ichthyosis inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intrinsic asthma keratosis follicularis leukopenia lipid metabolism disorder lipoatrophic diabetes mellitus lipodystrophy macrocytic anemia mevalonic aciduria microcytic anemia mongolian spot myoglobinuria myopathy myopia myositis nephritis neutropenia obesity obsolete congenital ichthyosiform erythroderma osteomyelitis osteopetrosis osteosclerosis prostate cancer prostate carcinoma proteinuria pseudoxanthoma elasticum relapsing fever rheumatoid arthritis severe congenital neutropenia synovitis tenosynovitis trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tropical sprue type 2 diabetes mellitus ulcerative colitis
22934	ribose 5-phosphate isomerase A	RPIA	Homo sapiens (human)	Chagas disease agnosia cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital nystagmus critical illness polyneuropathy disease of metabolism dissociated nystagmus epilepsy familial adenomatous polyposis 1 familial adenomatous polyposis hepatocellular carcinoma inflammatory and toxic neuropathy islet cell tumor large intestine cancer liver cancer liver carcinoma meningoencephalitis multiple myeloma neuropathy optic atrophy papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease polyneuropathy spontaneous ocular nystagmus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma trypanosomiasis visual epilepsy
6385	syndecan 4	SDC4 Aliases: SYND4 amphiglycan ryudocan syndecan proteoglycan 4	Homo sapiens (human)	Chagas disease Sezary's disease actinic keratosis acute interstitial pneumonia acute myeloid leukemia acute myocardial infarction allergic asthma anaplastic astrocytoma aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autism spectrum disorder autistic disorder bacterial infectious disease bone osteosarcoma breast cancer breast carcinoma cancer cataract 32 multiple types cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood osteosarcoma chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy embryoma endometriosis of uterus endometriosis fibrillary astrocytoma fibrodysplasia ossificans progressiva gastroenteritis gemistocytic astrocytoma glomerulonephritis hepatitis C high grade glioma hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis intrinsic asthma juvenile pilocytic astrocytoma kidney disease large intestine cancer leprosy liver cirrhosis lung cancer lung non-small cell carcinoma malignant astrocytoma melanoma myocardial infarction myositis ossificans nephritis nephrosis osteoarthritis osteosarcoma papillary adenocarcinoma papillary renal cell carcinoma pilocytic astrocytoma pneumonia postinflammatory pulmonary fibrosis primary cutaneous T-cell non-Hodgkin lymphoma protoplasmic astrocytoma pulmonary fibrosis pyoureter rheumatoid arthritis seborrheic keratosis silent myocardial infarction skin disease skin melanoma subependymal giant cell astrocytoma synovitis tenosynovitis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma trypanosomiasis type 2 diabetes mellitus ureteral obstruction
2645	glucokinase	GCK Aliases: HK4 hexokinase 4	Homo sapiens (human)	Chagas disease Fanconi anemia complementation group C Fanconi anemia Laron syndrome Marfan syndrome Werner syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acute chest syndrome adult-onset Still's disease agnosia apraxia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bronchus cancer bronchus carcinoma cancer cardiovascular system disease chronic fatigue syndrome congenital heart disease congenital ptosis coronary artery disease diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of metabolism embryoma encephalitis encephalomyelitis endocrine pancreas disease epilepsy essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hyperinsulinemic hypoglycemia 3 generalized anxiety disorder gestational diabetes glomerulonephritis glucose intolerance glucose metabolism disease heart disease hepatocellular carcinoma hyperglycemia hyperinsulinemic hypoglycemia hyperinsulinism hypertension hypoglycemia hypoglycemic coma immune system disease insulinoma intellectual disability kidney disease learning disability leishmaniasis liver cancer liver carcinoma liver cirrhosis lung benign neoplasm lung cancer lung carcinoma maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young myelitis myotonic dystrophy type 1 myotonic dystrophy type 2 neonatal diabetes nephritis nephrosis neuropathy nutmeg liver obesity obsolete infantile epileptic encephalopathy obsolete type 1 diabetes mellitus 9 osteoarthritis pancreatic cancer pancreatic carcinoma peripheral nervous system disease permanent neonatal diabetes mellitus placental insufficiency polyneuropathy prediabetes syndrome progeria prostate cancer prostate carcinoma ptosis pyoureter retinal disease retinitis rheumatoid arthritis sensorineural hearing loss situs inversus steatotic liver disease syndromic X-linked intellectual disability 94 systemic lupus erythematosus transient neonatal diabetes mellitus trypanosomiasis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urea cycle disorder visceral leishmaniasis visual epilepsy
64834	ELOVL fatty acid elongase 1	ELOVL1 Aliases: Ssc1	Homo sapiens (human)	Cauda equina syndrome acanthosis nigricans acrodermatitis adrenoleukodystrophy cancer dermatitis dry eye syndrome hyperglycemia neurogenic bladder obsolete asthenopia xerophthalmia
91949	component of oligomeric golgi complex 7	COG7	Homo sapiens (human)	Cauda equina syndrome Laron syndrome achondroplasia 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 cardiomyopathy cerebral degeneration congenital disorder of glycosylation type II congenital disorder of glycosylation type IIe congenital disorder of glycosylation congenital heart disease congestive heart failure endomyocardial fibrosis esophagitis familial hypertrophic cardiomyopathy gastroesophageal reflux disease genetic disease hydronephrosis hypertrichosis hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels microcephaly neurogenic bladder obsolete congenital ichthyosiform erythroderma peptic esophagitis placental insufficiency sensorineural hearing loss
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
23417	malonyl-CoA decarboxylase	MLYCD Aliases: MCD hMCD	Homo sapiens (human)	Castleman disease Kaposi's sarcoma Kimura disease Laron syndrome Marfan syndrome Meesmann corneal dystrophy Schmid metaphyseal chondrodysplasia Senior-Loken syndrome achondroplasia acquired immunodeficiency syndrome acute kidney tubular necrosis adult lymphoma autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome cancer cardiomyopathy central nervous system lymphoma childhood lymphoma choline deficiency disease diabetes mellitus diarrhea endomyocardial fibrosis epilepsy essential hypertension familial hypertrophic cardiomyopathy familial nephrotic syndrome focal segmental glomerulosclerosis glomerulonephritis human immunodeficiency virus infectious disease hypertension hypertrophic cardiomyopathy hypoglycemia inherited metabolic disorder kidney disease lactic acidosis lipoid nephrosis liver cirrhosis lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macular corneal dystrophy membranous glomerulonephritis metabolic dysfunction-associated steatotic liver disease microphthalmia multicentric Castleman disease nasopharynx carcinoma nephritis nephronophthisis 1 nephronophthisis nephrosclerosis nephrosis nephrotic syndrome normal pressure hydrocephalus obesity obsolete Matthew-Wood syndrome obsolete constipation obsolete ymphosarcoma oral tuberculosis primary immunodeficiency disease pyoureter situs inversus steatotic liver disease systemic Epstein-Barr virus positive T-cell lymphoma of childhood tuberculosis tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus visual epilepsy
55858	transmembrane protein 165	TMEM165 Aliases: GDT1 SLC64A1 TMPT27 TPA regulated locus TPARL	Homo sapiens (human)	Camurati-Engelmann disease Laron syndrome Marfan syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 achondroplasia acoustic neuroma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta cancer cellular schwannoma chondrodysplasia punctata congenital disorder of glycosylation type II congenital disorder of glycosylation type IIk congenital disorder of glycosylation dentin dysplasia dentinogenesis imperfecta embryoma hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels liver cancer melanotic neurilemmoma meningioma neurilemmoma neurofibromatosis osteoporosis pituitary adenoma plexiform schwannoma scoliosis situs inversus tuberous sclerosis vestibular schwannomatosis
6916	thromboxane A synthase 1	TBXAS1 Aliases: CYP5 CYP5A1 THAS TS TXAS TXS cytochrome P450, family 5, subfamily A, polypeptide 1	Homo sapiens (human)	Camurati-Engelmann disease Ghosal hematodiaphyseal syndrome acute myocardial infarction acute necrotizing pancreatitis alcoholic hepatitis alcoholic liver cirrhosis allergic asthma anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma ataxia telangiectasia atherosclerosis autosomal recessive osteopetrosis 7 benign mesothelioma brain infarction brain stem infarction breast cancer breast carcinoma cardiovascular system disease cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis essential hypertension glomerulonephritis heart disease hydronephrosis hypertension inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma kidney disease liver cirrhosis lung benign neoplasm macrocytic anemia malignant mesothelioma malignant pleural mesothelioma membranous glomerulonephritis myelofibrosis myocardial infarction nephritis osteopetrosis osteosclerosis pancytopenia pituitary adenoma pituitary cancer pituitary carcinoma platelet-type bleeding disorder 14 prostate cancer prostate carcinoma pulmonary embolism schizophrenia silent myocardial infarction speech disorder thrombocytopenia thrombosis ulcerative colitis urinary bladder cancer
1800	dipeptidase 1	DPEP1	Homo sapiens (human)	Camurati-Engelmann disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease SAPHO syndrome X-linked lymphoproliferative syndrome 2 adenoma amyloidosis ankylosing spondylitis arthritis arthropathy autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bladder calculus bone cancer bone osteosarcoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood osteosarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy dystonia embryoma epithelioid leiomyosarcoma essential hypertension facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial hemiplegic migraine 2 familial hemiplegic migraine fibrodysplasia ossificans progressiva focal hand dystonia follicular adenoma generalized dystonia gliosarcoma heart disease hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperuricemia inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial nephritis invasive ductal carcinoma large intestine cancer laryngeal disease leiomyosarcoma lepromatous leprosy limb-girdle muscular dystrophy metachondromatosis microcystic adenoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myositis ossificans myxoid leiomyosarcoma neuroendocrine carcinoma obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy osteoarthritis osteoporosis osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma periostitis peritoneal carcinoma proliferative diabetic retinopathy prostate cancer prostate carcinoma pulmonary embolism pyelitis pyelonephritis rheumatoid arthritis rippling muscle disease 2 secondary Parkinson disease secondary hypertrophic osteoarthropathy severe nonproliferative diabetic retinopathy stone in bladder diverticulum thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tracheal disease ulcerative colitis
622	3-hydroxybutyrate dehydrogenase 1	BDH1 Aliases: SDR9C1 short chain dehydrogenase/reductase family 9C, member 1	Homo sapiens (human)	COVID-19 Graves' disease X-linked dilated cardiomyopathy breast cancer cancer central nervous system cancer congestive heart failure 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 gliosarcoma hepatitis high grade glioma hyperthyroidism mixed glioma nicotine dependence thyrotoxicosis
6120	ribulose-5-phosphate-3-epimerase	RPE	Homo sapiens (human)	CINCA Syndrome Doyne honeycomb retinal dystrophy Leber congenital amaurosis 1 Leber congenital amaurosis 2 Sorsby's fundus dystrophy Stargardt disease Sveinsson chorioretinal atrophy Usher syndrome type 1 Vogt-Koyanagi-Harada disease Zika fever age related macular degeneration atrial fibrillation basal laminar drusen blindness cancer cardiovascular system disease choroideremia chronic recurrent multifocal osteomyelitis ciliary body disease colon cancer colonic benign neoplasm colorectal cancer cone-rod dystrophy degeneration of macula and posterior pole diabetes mellitus diabetic cataract diabetic macular edema diabetic retinopathy embryoma eye disease familial adenomatous polyposis 1 familial adenomatous polyposis familial retinoblastoma fundus albipunctatus fundus dystrophy glycogen storage disease II heart disease hepatocellular carcinoma hole retinal cyst hyperopia iris disease islet cell tumor large intestine cancer liver cancer liver carcinoma locked-in syndrome macular degeneration macular holes melanoma myopia neovascular inflammatory vitreoretinopathy neurodegenerative disease panuveitis peripheral retinal degeneration phototoxic dermatitis preretinal fibrosis proliferative diabetic retinopathy quadriplegia retinal detachment retinal disease retinal lattice degeneration retinal perforation retinitis pigmentosa 30 retinitis pigmentosa retinitis retinoblastoma retinoschisis skin melanoma trilateral retinoblastoma type 2 diabetes mellitus uveitis vitelliform macular dystrophy
2591	polypeptide N-acetylgalactosaminyltransferase 3	GALNT3 Aliases: GalNAc-T3 HFTC HHS polypeptide GalNAc transferase 3	Homo sapiens (human)	CHARGE syndrome X-linked dyskeratosis congenita adenocarcinoma adenoma angioid streaks arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive hypophosphatemic rickets bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cerebral infarction cerebrovascular disease chondrocalcinosis chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma dental enamel hypoplasia dental pulp calcification dentin dysplasia diabetes mellitus diabetic ketoacidosis disease of metabolism dyskeratosis congenita embryoma endometriosis of uterus endometriosis gallbladder cancer gallbladder carcinoma granular cell carcinoma hypercalcemia hyperostosis hyperphosphatemia hyperphosphatemic familial tumoral calcinosis hypotrichosis 1 hypotrichosis large intestine cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma melanoma microphthalmia musculoskeletal system disease nephrocalcinosis nodular prostate nutmeg liver obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 osteoarthritis osteoporosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma phosphorus metabolism disease prostate cancer prostate carcinoma prostatic adenoma pulp degeneration renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin disease skin melanoma squamous cell carcinoma tongue squamous cell 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 type 2 diabetes mellitus viral infectious disease
9487	phosphatidylinositol glycan anchor biosynthesis class L	PIGL Aliases: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase N-acetylglucosaminylphosphatidylinositol deacetylase PIG-L	Homo sapiens (human)	CAKUT2 CHIME syndrome Cogan syndrome Hailey-Hailey disease Hirschsprung's disease Rothmund-Thomson syndrome T-cell acute lymphoblastic leukemia Unverricht-Lundborg syndrome acquired hyperkeratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia amyotrophic lateral sclerosis anodontia 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 blepharospasm capillary disease cerebral degeneration chronic ulcer of skin cleft palate coloboma congenital ptosis craniosynostosis cutis laxa dextro-looped transposition of the great arteries diffuse interstitial keratitis disease of mental health early myoclonic encephalopathy epilepsy esotropia focal hand dystonia granuloma annulare hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hypertropia hypotrichosis ichthyosis intellectual disability isolated cleft palate learning disability lymphoblastic lymphoma mal de Meleda mechanical strabismus monocular esotropia multiple types of congenital heart defects 6 nonepidermolytic palmoplantar keratoderma obsolete dextro-looped transposition of the great arteries 1 oligohydramnios ophthalmoplegia palmoplantar keratosis progressive muscular atrophy psychotic disorder ptosis recurrent corneal erosion restrictive dermopathy scoliosis sensorineural hearing loss strabismus syndromic X-linked intellectual disability 94 telangiectasis tetralogy of Fallot tooth agenesis ventricular septal defect visual epilepsy
5476	cathepsin A	CTSA Aliases: carboxypeptidase C carboxypeptidase Y-like kininase carboxypeptidase-L deamidase lysosomal carboxypeptidase A lysosomal protective protein urinary kininase	Homo sapiens (human)	CADASIL 1 CADASIL Fabry disease GM1 gangliosidosis type 1 GM1 gangliosidosis Laron syndrome abdominal aortic aneurysm achondroplasia acquired immunodeficiency syndrome adult-onset leukoencephalopathy with axonal spheroids and pigmented glia allergic asthma aortic aneurysm aortic valve disease 2 aortic valve stenosis aspartylglucosaminuria asthma bone giant cell tumor cancer cavernous hemangioma chorioangioma chylomicron retention disease colitis colorectal cancer colorectal carcinoma corneal dystrophy embryoma epilepsy essential hypertension fucosidosis galactosialidosis gastroenteritis genital herpes glomus tumor glycoproteinosis hemangioma herpes simplex histiocytoid hemangioma human immunodeficiency virus infectious disease hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis inflammatory breast carcinoma intellectual disability intramuscular hemangioma intrinsic asthma invasive ductal carcinoma kidney failure large intestine cancer learning disability lipid storage disease lung adenocarcinoma lung cancer lymphangioma lysosomal storage disease mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia oophoritis osteochondrodysplasia parametritis pelvic inflammatory disease pneumonia pyosalpinx recurrent corneal erosion salpingitis sensorineural hearing loss shigellosis steatotic liver disease uremia visual epilepsy

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