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 .

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

Search results for "hydrolase activity, hydrolyzing O-glycosyl compounds"

Displaying entries **1 - 25** of **15431** in total

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Gene ID ▲	Gene Name	Gene Symbol	Organism	Disease Ontology
178	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	AGL Aliases: GDE glycogen debranching enzyme glycogen storage disease type III	Homo sapiens (human)	Duchenne muscular dystrophy Laron syndrome achondroplasia acute promyelocytic leukemia atrichia with papular lesions 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 carcinoma cancer cardiomyopathy colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital muscular dystrophy cystinuria disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hyperlipidemia familial partial lipodystrophy familial periodic paralysis galactosemia giardiasis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatitis C hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy liver cirrhosis lung cancer lung non-small cell carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy nodular nonsuppurative panniculitis 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 panniculitis primary immunodeficiency disease rippling muscle disease 2 uremia urinary bladder cancer
276	amylase alpha 1A	AMY1A	Homo sapiens (human)	McCune Albright syndrome Sjogren's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma allergic rhinitis anorexia nervosa anxiety disorder autism spectrum disorder autistic disorder cancer cribriform carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma essential hypertension generalized anxiety disorder granular cell carcinoma hepatocellular carcinoma hyperinsulinism hypertension hypothalamic disease inflammatory bowel disease 1 inflammatory bowel disease intellectual disability keratoconjunctivitis sicca kwashiorkor learning disability liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma major depressive disorder marasmus meconium aspiration syndrome melancholic depression multiple myeloma neurotic disorder nutrition disease obesity obsolete melancholia obstructive sleep apnea parathyroid gland disease periodontal disease phobic disorder post-traumatic stress disorder protein-energy malnutrition schizophrenia seasonal affective disorder substance abuse substance-related disorder tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis vasomotor rhinitis
277	amylase alpha 1B	AMY1B	Homo sapiens (human)	McCune Albright syndrome Sjogren's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma allergic rhinitis anorexia nervosa anxiety disorder autism spectrum disorder autistic disorder cancer cribriform carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma essential hypertension generalized anxiety disorder granular cell carcinoma hepatocellular carcinoma hyperinsulinism hypertension hypothalamic disease inflammatory bowel disease 1 inflammatory bowel disease intellectual disability keratoconjunctivitis sicca kwashiorkor learning disability liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma major depressive disorder marasmus meconium aspiration syndrome melancholic depression multiple myeloma neurotic disorder nutrition disease obesity obsolete melancholia obstructive sleep apnea parathyroid gland disease periodontal disease phobic disorder post-traumatic stress disorder protein-energy malnutrition seasonal affective disorder substance abuse substance-related disorder tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis vasomotor rhinitis
278	amylase alpha 1C	AMY1C	Homo sapiens (human)	McCune Albright syndrome Sjogren's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma allergic rhinitis anorexia nervosa anxiety disorder autism spectrum disorder autistic disorder cancer cribriform carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma essential hypertension generalized anxiety disorder granular cell carcinoma hepatocellular carcinoma hyperinsulinism hypertension hypothalamic disease inflammatory bowel disease 1 inflammatory bowel disease intellectual disability keratoconjunctivitis sicca kwashiorkor learning disability liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma major depressive disorder marasmus meconium aspiration syndrome melancholic depression multiple myeloma neurotic disorder nutrition disease obesity obsolete melancholia obstructive sleep apnea parathyroid gland disease periodontal disease phobic disorder post-traumatic stress disorder protein-energy malnutrition seasonal affective disorder substance abuse substance-related disorder tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis vasomotor rhinitis
279	amylase alpha 2A	AMY2A	Homo sapiens (human)	acute interstitial pneumonia acute pancreatitis autoimmune pancreatitis cancer diabetic ketoacidosis glucose intolerance idiopathic interstitial pneumonia lung benign neoplasm lung carcinoma obsolete type 1 diabetes mellitus 9 pancreatitis prediabetes syndrome stomach cancer stomach carcinoma 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
280	amylase alpha 2B	AMY2B	Homo sapiens (human)	autosomal recessive congenital ichthyosis 1 ichthyosis keratosis follicularis lung benign neoplasm lung carcinoma mongolian spot obsolete congenital ichthyosiform erythroderma pseudoxanthoma elasticum
670	biphenyl hydrolase like	BPHL Aliases: Bph-rp VACVase breast epithelial mucin-associated antigen valacyclovir hydrolase	Homo sapiens (human)	bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer childhood leukemia childhood osteosarcoma colon carcinoma colorectal cancer embryoma leukemia lung benign neoplasm lung cancer lung carcinoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
1116	chitinase 3 like 1	CHI3L1 Aliases: GP39 YK-40 YKL40 cartilage glycoprotein-39	Homo sapiens (human)	Alexander disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma CD40 ligand deficiency Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Gaucher's disease Goodpasture syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hantavirus hemorrhagic fever with renal syndrome Hermansky-Pudlak syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kawasaki disease Kuhnt-Junius degeneration Lafora disease Lewy body dementia Loeffler syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Reye syndrome Takayasu's arteritis X-linked hyper IgM syndrome acne acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute chest syndrome acute disseminated encephalomyelitis acute interstitial pneumonia acute kidney tubular necrosis acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adrenoleukodystrophy adult acute lymphocytic leukemia adult oligodendroglioma age related macular degeneration agnosia alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis anaplastic astrocytoma androgen insensitivity syndrome anemia anthracosilicosis arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis atopic dermatitis atrial fibrillation autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial infectious disease bacterial meningitis bacterial pneumonia bacterial sepsis benign ependymoma bipolar disorder bladder urothelial carcinoma blind loop syndrome bone disease bone marrow cancer bone osteosarcoma brain infarction breast cancer breast carcinoma bronchiolitis obliterans bronchitis bronchopulmonary dysplasia bronchus cancer bronchus carcinoma byssinosis cancer cardiovascular system disease carotid artery disease cartilage disease cataract 32 multiple types cellular ependymoma central nervous system cancer central nervous system disease cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia childhood oligodendroglioma childhood osteosarcoma childhood type dermatomyositis chondrosarcoma chromophobe renal cell carcinoma chronic ethmoiditis chronic kidney disease chronic obstructive pulmonary disease chronic sphenoidal sinusitis clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cystic fibrosis degeneration of macula and posterior pole dementia depressive disorder dermatitis dermatomyositis diabetes mellitus diabetic ketoacidosis diabetic macular edema dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health distal arthrogryposis embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma eosinophilic pneumonia epilepsy esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exfoliation syndrome extrinsic allergic alveolitis farmer's lung fatal familial insomnia fibrillary astrocytoma follicular adenoma frontotemporal dementia gallbladder disease gastroenteritis gastrointestinal system cancer gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance granular cell carcinoma granulomatosis with polyangiitis heart disease hematologic cancer hepatitis B hepatitis C hepatitis hepatocellular carcinoma hidradenitis suppurativa hidradenitis high grade glioma human immunodeficiency virus infectious disease hyper IgM syndrome hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunodeficiency with hyper IgM type 3 inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease intermediate coronary syndrome intermittent claudication interstitial lung disease intrahepatic cholestasis of pregnancy intrinsic asthma invasive ductal carcinoma juvenile pilocytic astrocytoma keratitis keratoconjunctivitis kidney disease large intestine cancer lichen planus liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma macrocytic anemia macular degeneration major depressive disorder malaria malignant astrocytoma melancholic depression melanoma meningitis microcystic adenoma middle cerebral artery infarction mitral valve stenosis mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma multiple sclerosis myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction myositis myotonic dystrophy type 1 myotonic dystrophy type 2 myxopapillary ependymoma nephritis nephrosis nervous system disease neurodegenerative disease neurogenic arthropathy nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obsolete ymphosarcoma obstructive sleep apnea oligodendroglioma oophoritis osteoarthritis osteoblastoma osteomyelitis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary ependymoma papillary renal cell carcinoma parametritis parapsoriasis pelvic inflammatory disease peripheral artery disease peripheral vascular disease pilocytic astrocytoma plasmacytoma pneumonia polyarteritis nodosa polycythemia vera polycythemia pompholyx portal vein thrombosis post-vaccinal encephalitis postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome primary cutaneous T-cell non-Hodgkin lymphoma primary pulmonary hypertension prion disease progressive muscular atrophy progressive supranuclear palsy prostate cancer prostate carcinoma protoplasmic astrocytoma psoriasis psychotic disorder pulmonary alveolar proteinosis pulmonary emphysema pulmonary eosinophilia pulmonary fibrosis pulmonary sarcoidosis pustulosis of palm and sole pyosalpinx pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease retinal detachment retinal disease retinitis retrograde amnesia rheumatoid arthritis salpingitis sarcoidosis sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder scleroderma scoliosis seborrheic keratosis sepiapterin reductase deficiency sick sinus syndrome silent myocardial infarction skin disease skin melanoma small cell carcinoma speech-language disorder-1 squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic scleroderma tanycytic ependymoma tauopathy temporal arteritis thrombophilia thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis uterine corpus cancer uveoparotid fever vascular dementia vascular disease vasomotor rhinitis viral pneumonia
1117	chitinase 3 like 2	CHI3L2 Aliases: YKL-39 YKL39	Homo sapiens (human)	amyotrophic lateral sclerosis arthritis arthropathy breast cancer cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma osteoarthritis papillary renal cell carcinoma progressive muscular atrophy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
1118	chitinase 1	CHIT1 Aliases: CHI3 CHIT chitotriosidase	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Bloch-Sulzberger syndrome Creutzfeldt-Jakob disease Fabry disease GM1 gangliosidosis type 1 GM1 gangliosidosis Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III Gaucher's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Krabbe disease Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Reye syndrome Wolman disease acute myeloid leukemia adrenoleukodystrophy alkaptonuria allergic asthma allergic rhinitis amyloidosis amyotrophic lateral sclerosis ancylostomiasis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascariasis ascaridiasis aspartylglucosaminuria asthma atherosclerosis bacterial sepsis beta thalassemia bone marrow cancer breast cancer breast carcinoma cancer carotid artery thrombosis carotid stenosis cerebral degeneration cerebral infarction cerebrovascular disease childhood type dermatomyositis cholestasis chronic obstructive pulmonary disease chylomicron retention disease colorectal cancer colorectal carcinoma common variable immunodeficiency complement deficiency coronary artery disease cryptococcosis cystic fibrosis dementia dermatomyositis diabetes mellitus diabetic ketoacidosis embryoma essential thrombocythemia eumycotic mycetoma familial combined hyperlipidemia familial mediterranean fever filariasis follicular lymphoma frontotemporal dementia fucosidosis gastritis glomerulonephritis glycoproteinosis hepatitis C hypomelanosis of Ito idiopathic interstitial pneumonia interstitial lung disease intrinsic asthma juvenile rheumatoid arthritis kidney disease large intestine cancer lipid storage disease liver cirrhosis lung disease lysosomal acid lipase deficiency lysosomal storage disease malaria mevalonic aciduria multiple sclerosis myelofibrosis myeloproliferative neoplasm nephritis nephrosis neurodegenerative disease neuropathy nodal marginal zone lymphoma nutmeg liver obesity obstructive sleep apnea ochronosis osteoarthritis peripheral nervous system disease plasmacytoma polycythemia vera polycythemia polyneuropathy postinflammatory pulmonary fibrosis progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma pulmonary fibrosis pyoureter sarcoidosis sialuria sickle cell anemia sphingolipidosis steatotic liver disease thalassemia tuberculosis type 2 diabetes mellitus uveoparotid fever vascular dementia vasomotor rhinitis
1486	chitobiase	CTBS Aliases: di-N-acetylchitobiase	Homo sapiens (human)	Clouston syndrome allergic rhinitis amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer cholera colon cancer colon carcinoma colonic benign neoplasm colorectal cancer hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer liver cancer progressive muscular atrophy prostate cancer prostate carcinoma ulcerative colitis vasomotor rhinitis
2517	alpha-L-fucosidase 1	FUCA1 Aliases: a-L-fucosidase 1 tissue fucosidase α-L-fucosidase 1	Homo sapiens (human)	Laron syndrome Sjogren's syndrome achondroplasia acquired immunodeficiency syndrome angiokeratoma anhidrosis aspartylglucosaminuria autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer cerebral degeneration colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypothyroidism craniosynostosis critical illness polyneuropathy diabetes mellitus diabetic cataract diabetic retinopathy embryoma enterocele epilepsy fucosidosis head and neck cancer human immunodeficiency virus infectious disease hypertrichosis hypohidrosis hypothyroidism immune system disease inflammatory and toxic neuropathy intellectual disability keratoconjunctivitis sicca large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy livedoid vasculitis lobular neoplasia locked-in syndrome lysosomal storage disease meningoencephalitis mucoepidermoid carcinoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myxedema neuropathy papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy quadriplegia recurrent corneal erosion scoliosis sensorineural hearing loss squamous cell carcinoma syndromic X-linked intellectual disability 94 thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma type 1 diabetes mellitus type 2 diabetes mellitus vascular skin disease visual epilepsy
2519	alpha-L-fucosidase 2	FUCA2 Aliases: MGC1314 a-L-fucosidase 2 dJ20N2.5 plasma fucosidase α-L-fucosidase 2	Homo sapiens (human)	autoimmune disease autoimmune lymphoproliferative syndrome duodenal ulcer glycoproteinosis immune system disease schizophrenia sickle cell anemia
2548	alpha glucosidase	GAA Aliases: Pompe disease glycogen storage disease type II	Homo sapiens (human)	Becker muscular dystrophy Clouston syndrome Duchenne muscular dystrophy Fabry disease Friedreich ataxia 1 Friedreich ataxia aortic aneurysm ataxia telangiectasia atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy cancer cardiomyopathy cerebellar ataxia cerebellar disease chylomicron retention disease cystinuria cytochrome-c oxidase deficiency disease diaphragm disease disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease membranous glomerulonephritis mitochondrial metabolism disease mitochondrial myopathy muscular dystrophy myopathy neurodegenerative disease neuromuscular disease obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy patent foramen ovale peroxisome biogenesis disorder 7A primary immunodeficiency disease sensorineural hearing loss thyroid gland anaplastic carcinoma
2581	galactosylceramidase	GALC Aliases: Krabbe disease	Homo sapiens (human)	Creutzfeldt-Jakob disease Evans' syndrome Fabry disease Farber lipogranulomatosis Gaucher's disease Krabbe disease Mycoplasma pneumoniae pneumonia Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wolman disease amblyopia autoimmune thrombocytopenic purpura bipolar disorder blindness bronchus cancer bronchus carcinoma cancer cerebellar ataxia cerebellar disease chronic obstructive pulmonary disease chylomicron retention disease communicating hydrocephalus congenital nystagmus demyelinating disease depressive disorder disease of metabolism dissociated nystagmus dysthymic disorder embryoma epilepsy glycogen storage disease II head and neck cancer head and neck squamous cell carcinoma hydrocephalus hypertropia inflammatory bowel disease laryngeal disease late onset Parkinson's disease leukodystrophy lipid storage disease low tension glaucoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease major depressive disorder mechanical strabismus melancholic depression melanoma metachromatic leukodystrophy multiple sclerosis nasopharynx carcinoma neurodegenerative disease neurotic disorder obsolete melancholia obstructive hydrocephalus ophthalmoplegia optic atrophy osteomalacia paraplegia pathologic nystagmus placental insufficiency primary open angle glaucoma relapsing fever rickets schizophrenia senile degeneration of brain sensorineural hearing loss sphingolipidosis spontaneous ocular nystagmus squamous cell carcinoma status epilepticus strabismic amblyopia strabismus systemic lupus erythematosus tongue squamous cell carcinoma tracheal disease visual epilepsy
2595	glucosidase alpha, neutral C	GANC	Homo sapiens (human)	congenital dyserythropoietic anemia panic disorder
2629	glucosylceramidase beta 1	GBA1 Aliases: glucocerebrosidase	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Burkitt lymphoma Canavan disease 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 Cogan syndrome DiGeorge syndrome Fabry disease Gaucher's disease perinatal lethal Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III Gaucher's disease type IIIC Gaucher's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Lafora disease Langerhans-cell histiocytosis Laron syndrome Lewy body dementia Netherton syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C1 Niemann-Pick disease type C2 Niemann-Pick disease PCWH syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 2 Parkinson's disease 4 Parkinson's disease Parkinsonism Pick's disease REM sleep behavior disorder Reye syndrome Sjogren-Larsson syndrome Tay-Sachs disease Unverricht-Lundborg syndrome West Nile fever Wolman disease abdominal obesity-metabolic syndrome 1 achondroplasia acquired hyperkeratosis actinic keratosis adult lymphoma agenesis of the corpus callosum with peripheral neuropathy agnosia alternating hemiplegia of childhood amyotrophic lateral sclerosis anemia arthritis arthropathy atypical Gaucher's disease due to saposin c deficiency autonomic neuropathy autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis autosomal recessive osteopetrosis 7 blepharospasm brain disease cancer cardiac arrest central nervous system disease central nervous system lymphoma cerebral degeneration childhood lymphoma chylomicron retention disease communicating hydrocephalus congestive heart failure dementia dentatorubral-pallidoluysian atrophy depressive disorder developmental coordination disorder diffuse interstitial keratitis diffuse large B-cell lymphoma dissociated nystagmus dysthymic disorder dystonia early myoclonic encephalopathy ectropion embryoma endometriosis of uterus endometriosis esotropia essential hypertension essential tremor female stress incontinence fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome focal hand dystonia follicular lymphoma glucose intolerance hemopericardium hepatitis B hepatopulmonary syndrome hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hydrocephalus hypertension hypomyelinating leukodystrophy 2 hypomyelinating leukodystrophy 3 hypomyelinating leukodystrophy 4 hypomyelinating leukodystrophy 6 hypomyelinating leukodystrophy 9 ichthyosis interstitial lung disease intracranial aneurysm keratosis follicularis late onset Parkinson's disease leukoencephalopathy with vanishing white matter leukopenia lingual-facial-buccal dyskinesia lipid storage disease liver cirrhosis lymphoma lysosomal storage disease macrocytic anemia major depressive disorder melancholic depression metachromatic leukodystrophy microcephaly mitral valve stenosis mongolian spot monocular esotropia motor peripheral neuropathy movement disease multiple myeloma nervous system disease neuroblastoma neurodegenerative disease neurotic disorder non-Hodgkin lymphoma obsolete congenital ichthyosiform erythroderma obsolete constipation obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia obsolete ymphosarcoma obstructive hydrocephalus ophthalmoplegia osteoarthritis osteonecrosis osteopetrosis osteosclerosis pancytopenia pathologic nystagmus pericardial effusion placental insufficiency polyhydramnios prediabetes syndrome primary pulmonary hypertension progressive muscular atrophy progressive myoclonus epilepsy 4 progressive myoclonus epilepsy progressive supranuclear palsy proteinuria pseudoxanthoma elasticum psoriasis reticulosarcoma schizophrenia seborrheic keratosis secondary Parkinson disease senile degeneration of brain sensorineural hearing loss skin disease speech disorder sphingolipidosis spontaneous ocular nystagmus thrombocytopenia velocardiofacial syndrome
2632	1,4-alpha-glucan branching enzyme 1	GBE1 Aliases: Andersen disease glycogen branching enzyme glycogen storage disease type IV	Homo sapiens (human)	B-cell lymphoma Cauda equina syndrome Fabry disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Guillain-Barre syndrome Noonan syndrome 1 acute myeloid leukemia bronchus cancer bronchus carcinoma cancer cardiomyopathy carnitine palmitoyltransferase II deficiency cerebral infarction cerebrovascular disease chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyradiculoneuropathy chronic ulcer of skin chylomicron retention disease congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congestive heart failure contractures, pterygia, and spondylocarpotarsal fusion syndrome cystinuria cytochrome-c oxidase deficiency disease dementia diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism embryoma endomyocardial fibrosis esophagus squamous cell carcinoma familial lipoprotein lipase deficiency familial periodic paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease hypertrophic cardiomyopathy idiopathic scoliosis intellectual disability learning disability leukodystrophy lipid storage disease liver disease locked-in syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma megaconial type congenital muscular dystrophy melanoma mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency multiple sclerosis muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myopathy nemaline myopathy neurogenic bladder obsolete ymphosarcoma ovarian cancer ovarian carcinoma paraplegia polyhydramnios porphyria portal hypertension pulmonary tuberculosis quadriplegia rigid spine muscular dystrophy 1 skin melanoma
2717	galactosidase alpha	GLA Aliases: GALA	Homo sapiens (human)	Fabry disease Gaucher's disease Goodpasture syndrome Horner's syndrome Laron syndrome Meckel syndrome Moyamoya disease Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Riley-Day syndrome Takayasu's arteritis X-linked agammaglobulinemia Zollinger-Ellison syndrome achondroplasia acquired hyperkeratosis acute myocardial infarction allergic asthma anemia angiokeratoma anhidrosis antithrombin III deficiency anxiety disorder arthritis arthropathy asthma atrial fibrillation atrioventricular block autosomal dominant polycystic kidney disease bacterial vaginosis breast cancer breast fibrocystic disease brucellosis cancer cardiomyopathy cardiovascular system disease cataract central nervous system origin vertigo cerebral infarction cerebrovascular disease chronic kidney disease chronic obstructive pulmonary disease chylomicron retention disease congenital hypogammaglobulinemia congestive heart failure corneal dystrophy coronary thrombosis cystinuria depressive disorder diabetes insipidus diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism dysthymic disorder elephantiasis endomyocardial fibrosis epilepsy erythromelalgia essential hypertension familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial nephrotic syndrome fibromyalgia galactosemia generalized anxiety disorder glaucoma glomerulonephritis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granulomatosis with polyangiitis heart disease hyperinsulinism hypertension hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypohidrosis influenza inherited metabolic disorder interstitial nephritis intrinsic asthma keratosis follicularis kidney disease kidney failure late onset Parkinson's disease lipid storage disease lipoid nephrosis lung disease lymphedema lysosomal storage disease macrocytic anemia major depressive disorder melancholic depression mevalonic aciduria microglandular adenosis mitral valve insufficiency mitral valve prolapse mongolian spot multiple sclerosis myocardial infarction myositis nephritis nephrosis nephrotic syndrome neurohypophyseal diabetes insipidus neuropathy neurotic disorder obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive lung disease optic atrophy osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease pneumonia polyarteritis nodosa polyneuropathy priapism protein C deficiency protein S deficiency proteinuria pseudoxanthoma elasticum pyelitis pyelonephritis pyoureter recurrent corneal erosion renal infectious disease sensorineural hearing loss sick sinus syndrome silent myocardial infarction sphingolipidosis thrombophilia thyroid gland papillary carcinoma transient cerebral ischemia tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia vaginitis vascular disease vertebrobasilar insufficiency visual epilepsy vitamin K deficiency bleeding vulvitis vulvovaginal candidiasis vulvovaginitis
2720	galactosidase beta 1	GLB1 Aliases: EBP elastin binding protein	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Balo concentric sclerosis Behcet's disease Burkitt lymphoma Clostridium difficile colitis Cockayne syndrome Cornelia de Lange syndrome Costello syndrome Crohn's colitis Crohn's disease Dubowitz syndrome Duchenne muscular dystrophy Fabry disease GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM1 gangliosidosis GM2 gangliosidosis Gaucher's disease Kawasaki disease Krabbe disease Laron syndrome Niemann-Pick disease Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Prader-Willi syndrome Reye syndrome Richter's syndrome Robinow syndrome Sandhoff disease Seckel syndrome Silver-Russell syndrome Silverman-Handmaker type dyssegmental dysplasia X-linked Aarskog syndrome X-linked dilated cardiomyopathy X-linked ichthyosis X-linked spondyloepiphyseal dysplasia tarda Zollinger-Ellison syndrome achondroplasia acquired immunodeficiency syndrome acute promyelocytic leukemia adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adrenoleukodystrophy adult fibrosarcoma adult lymphoma allergic asthma anaplastic astrocytoma anogenital venereal wart aortic valve disease 2 aortic valve stenosis arthritis arthropathy aspartylglucosaminuria asthma atopic dermatitis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 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 Robinow syndrome 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 benign mesothelioma bladder carcinoma bladder urothelial carcinoma bone disease brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer carcinoma cardiomyopathy cartilage disease celiac disease central nervous system cancer central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood astrocytic tumor childhood cerebral astrocytoma childhood leukemia childhood lymphoma cholera chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma chronic kidney disease chronic lymphocytic leukemia chronic obstructive pulmonary disease chylomicron retention disease collagen disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital muscular dystrophy congestive heart failure connective tissue disease contact dermatitis corneal neovascularization cutaneous fibrous histiocytoma cystic fibrosis dental caries dentin caries depressive disorder dermatitis diabetes insipidus diabetes mellitus diabetic ketoacidosis diarrhea 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 distal myopathy dysostosis dystonia embryoma endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial hypercholesterolemia familial hyperlipidemia familial hypertrophic cardiomyopathy familial retinoblastoma fibrillary astrocytoma fibrosarcoma filariasis focal hand dystonia fucosidosis galactosialidosis gangliosidosis gemistocytic astrocytoma generalized dystonia giant cell glioblastoma giant cell reparative granuloma gingival hypertrophy gingival overgrowth glioblastoma gliosarcoma glycoproteinosis head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatoblastoma hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies herpes simplex hidradenoma high grade glioma human immunodeficiency virus infectious disease hydrocephalus hyperinsulinism hypertrichosis hypertrophic cardiomyopathy hypotrichosis 7 hypotrichosis idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia inherited metabolic disorder intellectual disability intracranial hypertension intrinsic asthma irritable bowel syndrome islet cell tumor juvenile pilocytic astrocytoma kwashiorkor lactose intolerance large intestine cancer learning disability leiomyoma leukemia limb-girdle muscular dystrophy lipid storage disease liver cancer liver cirrhosis localized scleroderma locked-in syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung large cell carcinoma lung small cell carcinoma lymphoma lysosomal storage disease major depressive disorder malignant astrocytoma malignant mesothelioma marasmus measles melancholic depression melanoma metachromatic leukodystrophy microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II mixed glioma mucolipidosis III alpha/beta mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia multiple myeloma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma narcolepsy nervous system disease neuroblastoma neurocirculatory asthenia neurodegeneration with brain iron accumulation neurodegenerative disease neurohypophyseal diabetes insipidus nevoid basal cell carcinoma syndrome nutrition disease obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma occupational dermatitis oculopharyngeal muscular dystrophy optic atrophy osteoarthritis osteochondrodysplasia osteoporosis ovarian cancer ovarian carcinoma pancytopenia papilloma parasitic helminthiasis infectious disease patent ductus arteriosus pilocytic astrocytoma postinflammatory pulmonary fibrosis primary biliary cholangitis primary immunodeficiency disease primary open angle glaucoma primary pulmonary hypertension progressive pseudorheumatoid arthropathy of childhood prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma pseudotumor cerebri pulmonary fibrosis quadriplegia recurrent corneal erosion retinoblastoma rhabdomyosarcoma rheumatoid arthritis rippling muscle disease 2 sarcomatoid carcinoma scleroderma scoliosis sea-blue histiocytosis secondary Parkinson disease sensorineural hearing loss skin melanoma skin papilloma skin squamous cell carcinoma skin tag sphingolipidosis spondyloepiphyseal dysplasia congenita squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma synovial sarcoma syringoma systemic scleroderma tarsal-carpal coalition syndrome thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma transthyretin amyloidosis trilateral retinoblastoma 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 ulcerative colitis urinary bladder cancer uterine fibroid viral infectious disease visual epilepsy
2760	ganglioside GM2 activator	GM2A Aliases: GM2-AP GM2-activator protein GM2AP SAP-3 cerebroside sulfate activator protein sphingolipid activator protein 3	Homo sapiens (human)	Clostridium difficile colitis GM2 gangliosidosis, AB variant GM2 gangliosidosis Laron syndrome Sandhoff disease Schimke immuno-osseous dysplasia Tay-Sachs disease achondroplasia alcohol dependence alcohol use disorder anxiety disorder blindness breast cancer breast carcinoma cancer cerebral degeneration choreatic disease chronic obstructive pulmonary disease dementia dystonia embryoma epilepsy generalized anxiety disorder neurodegenerative disease neuroendocrine carcinoma nicotine dependence perinatal necrotizing enterocolitis progressive muscular atrophy retinal disease retinitis spinal muscular atrophy syndromic X-linked intellectual disability type 10 visual epilepsy vulvovaginal candidiasis
2990	glucuronidase beta	GUSB	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Clouston syndrome Crohn's colitis Crohn's disease De Quervain disease Fabry disease Laron syndrome Pick's disease Reye syndrome Richter's syndrome Sly syndrome Werner syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adenosarcoma adrenal gland cancer alcohol dependence alcohol use disorder alternating hemiplegia of childhood arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy atherosclerosis autonomic neuropathy bladder carcinoma bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system disease cerebral degeneration cholecystolithiasis choledocholithiasis cholelithiasis chondrodysplasia punctata chronic lymphocytic leukemia chronic myeloid leukemia chylomicron retention disease clubfoot colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus congestive heart failure coronary artery disease cystic fibrosis diabetes mellitus diabetic ketoacidosis diarrhea duodenum cancer elephantiasis embryoma endomyocardial fibrosis factor VIII deficiency familial adenomatous polyposis 1 familial adenomatous polyposis follicular adenoma gallbladder disease gastroenteritis gastrointestinal system disease gingival hypertrophy gingival overgrowth glycoproteinosis head and neck cancer head and neck squamous cell carcinoma heart cancer hepatitis B hepatitis C hepatitis hepatocellular carcinoma herpes simplex hydrocephalus hyperglycemia hypertrichosis hypertrophic cardiomyopathy ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intestinal disease islet cell tumor large intestine cancer learning disability lipid storage disease liver cancer liver disease lung adenocarcinoma lung cancer lung carcinoma lymphedema lysosomal storage disease microcystic adenoma mucolipidosis II alpha/beta mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myeloproliferative neoplasm nasopharynx carcinoma nephroblastoma nervous system disease neuroblastoma neurodegenerative disease obstructive hydrocephalus omphalocele ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma paraganglioma peritonitis pheochromocytoma progeria prostate cancer prostate carcinoma proteinuria pulmonary tuberculosis recurrent corneal erosion retinal disease retinitis rheumatoid arthritis sarcomatoid carcinoma schizophrenia scoliosis senile degeneration of brain sensorineural hearing loss shigellosis small intestine cancer stomach cancer stomach carcinoma subacute thyroiditis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tuberculosis tuberculous pneumothorax type 2 diabetes mellitus ulcerative colitis umbilical hernia urinary bladder cancer
3073	hexosaminidase subunit alpha	HEXA Aliases: GM2 gangliosidosis Tay Sachs disease beta-hexosaminidase subunit alpha	Homo sapiens (human)	GM2 gangliosidosis, AB variant GM2 gangliosidosis Gaucher's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Sandhoff disease Tay-Sachs disease Werdnig-Hoffmann disease acquired immunodeficiency syndrome adult lymphoma amyotrophic lateral sclerosis blindness cancer central nervous system cancer central nervous system lymphoma childhood lymphoma childhood spinal muscular atrophy cystic fibrosis dementia diffuse scleroderma embryoma epilepsy gangliosidosis gliosarcoma glycoproteinosis high grade glioma human immunodeficiency virus infectious disease inherited metabolic disorder intellectual disability juvenile spinal muscular atrophy learning disability lingual-facial-buccal dyskinesia lymphoma lysosomal storage disease mixed glioma movement disease mucolipidosis type IV neurodegenerative disease obesity obsolete ymphosarcoma progressive muscular atrophy rheumatoid arthritis sensorineural hearing loss sickle cell anemia spinal muscular atrophy visual epilepsy
3074	hexosaminidase subunit beta	HEXB Aliases: beta-hexosaminidase subunit beta	Homo sapiens (human)	GM2 gangliosidosis, AB variant GM2 gangliosidosis HCL-V Sandhoff disease Schimke immuno-osseous dysplasia Tay-Sachs disease Unverricht-Lundborg syndrome acquired immunodeficiency syndrome acute kidney failure allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anhidrosis anterior horn cell disease asthma autosomal recessive distal hereditary motor neuronopathy 1 blindness central nervous system cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital nystagmus dissociated nystagmus early myoclonic encephalopathy epilepsy gangliosidosis gliosarcoma hairy cell leukemia high grade glioma human immunodeficiency virus infectious disease hypohidrosis impotence inherited metabolic disorder intrinsic asthma kidney disease large intestine cancer lateral sclerosis liver cirrhosis lysosomal storage disease mixed glioma motor neuron disease multiple system atrophy neurodegenerative disease pathologic nystagmus postural orthostatic tachycardia syndrome premature ejaculation psychologic dyspareunia retinal disease retinitis rheumatoid arthritis spinal muscular atrophy spontaneous ocular nystagmus visual epilepsy
3373	hyaluronidase 1	HYAL1 Aliases: HYAL-1 LUCA1	Homo sapiens (human)	Laron syndrome achondroplasia arthritis arthropathy bladder carcinoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma embryoma endometrial cancer endometrial carcinoma gliosarcoma head and neck cancer head and neck squamous cell carcinoma high grade glioma juvenile rheumatoid arthritis large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer lung benign neoplasm lung cancer lung non-small cell carcinoma lung small cell carcinoma lysosomal storage disease mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis osteoarthritis osteochondrodysplasia ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension sarcomatoid carcinoma skin disease squamous cell carcinoma tongue squamous cell carcinoma urinary bladder cancer uterine corpus cancer

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