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 **551 - 575** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▲
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
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
7021	transcription factor AP-2 beta	TFAP2B	Homo sapiens (human)	Char syndrome angle-closure glaucoma patent ductus arteriosus sleep disorder
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
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
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
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
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
84649	diacylglycerol O-acyltransferase 2	DGAT2	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 agenesis of the corpus callosum with peripheral neuropathy androgen insensitivity syndrome cancer cholestasis chronic kidney disease generalized atherosclerosis hepatitis B hepatitis C hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 liver cancer metabolic dysfunction-associated steatotic liver disease motor peripheral neuropathy neuropathy obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease polyneuropathy premature menopause prostate cancer prostate carcinoma steatotic liver disease
8776	myotubularin related protein 1	MTMR1	Homo sapiens (human)	Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease centronuclear myopathy X-linked centronuclear myopathy congenital structural myopathy myopathy myotonic dystrophy type 1 myotonic dystrophy type 2
113612	cytochrome P450 family 2 subfamily U member 1	CYP2U1 Aliases: SPG49 spastic paraplegia 49	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 GM1 gangliosidosis type 1 GM1 gangliosidosis Henoch-Schoenlein purpura MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome agnosia blindness breast cancer breast carcinoma cancer developmental coordination disorder dystonia embryoma focal hand dystonia generalized dystonia hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia hypersensitivity vasculitis intellectual disability learning disability neurodegenerative disease neuropathy paraplegia peripheral nervous system disease polyneuropathy syringomyelia
57704	glucosylceramidase beta 2	GBA2 Aliases: AD035 DKFZp762K054 KIAA1605 bile acid beta-glucosidase glucocerebrosidase 2 non-lysosomal glucosylceramidase	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 Gaucher's disease Henoch-Schoenlein purpura Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease MASA syndrome Mast syndrome Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease SPOAN syndrome Troyer syndrome alternating hemiplegia of childhood autonomic neuropathy cancer cataract central nervous system disease cerebellar ataxia cerebellar disease cerebral degeneration congenital nystagmus cystic fibrosis dementia dissociated nystagmus glaucoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia hypersensitivity vasculitis infertility intellectual disability learning disability male infertility nervous system disease paraplegia pathologic nystagmus scoliosis sensorineural hearing loss spontaneous ocular nystagmus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome
2583	beta-1,4-N-acetyl-galactosaminyltransferase 1	B4GALNT1 Aliases: GD2 synthase, GM2 synthase beta1-4GalNAc-T	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura MASA syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome SPOAN syndrome Troyer syndrome alternating hemiplegia of childhood androgen insensitivity syndrome autonomic neuropathy breast cancer breast carcinoma cancer cataract central nervous system disease chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease diabetic ketoacidosis dystonia embryoma eunuchism gastrointestinal system cancer giant cell glioblastoma glioblastoma hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia high grade glioma hypersensitivity vasculitis hypogonadism intellectual disability intestinal benign neoplasm intestinal cancer learning disability lingual-facial-buccal dyskinesia liver cancer melanoma nervous system disease neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 ovarian cancer ovarian carcinoma papillary renal cell carcinoma paraplegia premature menopause pseudobulbar palsy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma scoliosis skin melanoma 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
8869	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	ST3GAL5 Aliases: SIATGM3S ST3GalV ganglioside GM3 synthase lactosylceramide alpha-2,3-sialyltransferase	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome Niemann-Pick disease type C1 Niemann-Pick disease Rett syndrome SPOAN syndrome Troyer syndrome Unverricht-Lundborg syndrome agnosia arthritis arthropathy blepharospasm blindness cerebral palsy congenital nystagmus developmental and epileptic encephalopathy 36 dissociated nystagmus dystonia early myoclonic encephalopathy endocrine exophthalmos focal hand dystonia hemiplegia hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia intellectual disability learning disability lingual-facial-buccal dyskinesia liver cancer locked-in syndrome microcephaly optic atrophy paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia 2 pathologic nystagmus quadriplegia salt and pepper syndrome sensorineural hearing loss spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus status epilepticus stereotypic movement disorder syndromic X-linked intellectual disability 94 thromboangiitis obliterans trichohepatoenteric syndrome 1 trichohepatoenteric syndrome visual epilepsy
51302	cytochrome P450 family 39 subfamily A member 1	CYP39A1	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome agranulocytosis gallbladder cancer gallbladder carcinoma hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia leukopenia liver cancer neutropenia prostate cancer prostate carcinoma severe congenital neutropenia
5833	phosphate cytidylyltransferase 2, ethanolamine	PCYT2 Aliases: CTP:phosphoethanolamine cytidylyltransferase ET ethanolamine-phosphate cytidylyltransferase: phosphorylethanolamine transferase	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome cancer cerebral degeneration embryoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 82 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia
85465	selenoprotein I	SELENOI Aliases: KIAA1724 SELI SEPI	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome cancer cleft palate coronary artery disease hepatoblastoma hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 81 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia isolated cleft palate liver cancer microcephaly
84188	fatty acyl-CoA reductase 1	FAR1 Aliases: FLJ22728 SDR10E1 short chain dehydrogenase/reductase family 10E, member 1	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome dermatitis hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia microcephaly rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctate type 4
9108	myotubularin related protein 7	MTMR7	Homo sapiens (human)	Charcot-Marie-Tooth disease Creutzfeldt-Jakob disease cancer centronuclear myopathy X-linked centronuclear myopathy colorectal cancer colorectal carcinoma embryoma large intestine cancer
8897	myotubularin related protein 3	MTMR3 Aliases: FYVE-DSP1 KIAA0371 ZFYVE10	Homo sapiens (human)	Charcot-Marie-Tooth disease Crohn's colitis Crohn's disease IgA glomerulonephritis acute myeloid leukemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer centronuclear myopathy X-linked cleft lip cleft palate colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma dental caries dentin caries diabetes mellitus embryoma gliosarcoma herpes simplex high grade glioma inflammatory bowel disease 1 inflammatory bowel disease isolated cleft palate large intestine cancer lung benign neoplasm lung cancer lung carcinoma mixed glioma rheumatoid arthritis stomach cancer stomach carcinoma systemic lupus erythematosus type 2 diabetes mellitus ulcerative colitis
9110	myotubularin related protein 4	MTMR4 Aliases: KIAA0647 ZFYVE11	Homo sapiens (human)	Charcot-Marie-Tooth disease anterior horn cell disease benign mesothelioma centronuclear myopathy X-linked herpes simplex malignant mesothelioma muscular atrophy
55613	myotubularin related protein 8	MTMR8 Aliases: FLJ20126	Homo sapiens (human)	Charcot-Marie-Tooth disease breast cancer centronuclear myopathy X-linked centronuclear myopathy
9107	myotubularin related protein 6	MTMR6	Homo sapiens (human)	Charcot-Marie-Tooth disease cancer centronuclear myopathy X-linked centronuclear myopathy
8794	TNF receptor superfamily member 10c	TNFRSF10C Aliases: CD263 DcR1 LIT TRAILR3 TRID	Homo sapiens (human)	Churg-Strauss syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Crohn's colitis Crohn's disease Down syndrome Richter's syndrome acute myeloid leukemia acute promyelocytic leukemia adenocarcinoma adenoma adult lymphoma agranulocytosis benign ependymoma benign mesothelioma bladder carcinoma breast cancer breast carcinoma cancer cellular ependymoma central nervous system cancer central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood lymphoma chronic lymphocytic leukemia chronic obstructive pulmonary disease colon cancer congenital heart disease cribriform carcinoma cystadenoma distal arthrogryposis embryoma endometrial cancer endometrial carcinoma essential thrombocythemia familial hypercholesterolemia giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma hypereosinophilic syndrome inflammatory bowel disease 1 inflammatory bowel disease intellectual disability juvenile rheumatoid arthritis learning disability leukemia leukopenia liver cancer lung cancer lung non-small cell carcinoma lymphoma malignant mesothelioma melanoma mixed glioma multiple myeloma multiple sclerosis myelodysplastic syndrome myxopapillary ependymoma neuroblastoma neutropenia obsolete ymphosarcoma osteoarthritis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary ependymoma periodontitis post-traumatic stress disorder prostate cancer prostate carcinoma severe congenital neutropenia skin melanoma systemic lupus erythematosus tanycytic ependymoma tongue squamous cell carcinoma tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer uveal melanoma
55907	cytidine monophosphate N-acetylneuraminic acid synthetase	CMAS Aliases: CMP-Neu5Ac synthetase N-acylneuraminate cytidylyltransferase	Homo sapiens (human)	Churg-Strauss syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Graves' disease Norrie disease autistic disorder cancer chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma embryoma epithelioid sarcoma focal segmental glomerulosclerosis gastrointestinal stromal tumor gastrointestinal system cancer giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma high grade glioma hyperthyroidism intellectual disability large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver cirrhosis mediastinal malignant lymphoma melanoma nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma paraganglioma primary immunodeficiency disease prostate cancer prostate carcinoma renal artery obstruction renal carcinoma renal cell carcinoma sarcoma sarcomatoid renal cell carcinoma skin melanoma spindle cell sarcoma steatotic liver disease thyrotoxicosis transitional cell carcinoma tuberculosis vasculitis

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