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

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 ▲
10855	heparanase	HPSE Aliases: HPA HPSE1 HSE1	Homo sapiens (human)	46,XY sex reversal 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 Barrett's esophagus 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 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 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 Crohn's colitis Crohn's disease Evans' syndrome Glanzmann's thrombasthenia Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma IgA glomerulonephritis Japanese encephalitis MHC class II deficiency Pick's disease Reye syndrome Sjogren's syndrome X-linked ichthyosis abdominal aortic aneurysm acrodermatitis acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adenosine deaminase deficiency adrenal gland cancer adult hepatocellular carcinoma adult lymphoma adult medulloblastoma adult oligodendroglioma agenesis of the corpus callosum with peripheral neuropathy ameloblastoma anaplastic astrocytoma anemia antithrombin III deficiency anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura basal cell carcinoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bipolar disorder bladder carcinoma blood coagulation disease blood platelet disease bone marrow cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer breast adenocarcinoma breast cancer breast carcinoma breast lymphoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease central nervous system cancer central nervous system lymphoma central retinal vein occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma cervix uteri carcinoma in situ cherubism childhood cerebral astrocytoma childhood medulloblastoma childhood oligodendroglioma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic ethmoiditis chronic fatigue syndrome chronic kidney disease chronic myeloid leukemia chronic sphenoidal sinusitis clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma corneal disease coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma dengue disease depressive disorder dermatitis dermoid cyst of ovary diabetes mellitus diabetic angiopathy diabetic ketoacidosis duodenum cancer dysthymic disorder embryoma embryonal rhabdomyosarcoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epithelioid sarcoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exostosis exudative vitreoretinopathy 1 exudative vitreoretinopathy familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome familial nephrotic syndrome fibrillary astrocytoma focal segmental glomerulosclerosis follicular adenoma gallbladder cancer gallbladder carcinoma gastrointestinal system cancer gemistocytic astrocytoma generalized anxiety disorder giant cell glioblastoma gingival fibromatosis glaucoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma gray platelet syndrome head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hepatic veno-occlusive disease hepatitis B hepatitis C hepatocellular carcinoma hepatoerythropoietic porphyria hereditary multiple exostoses hereditary neuropathy with liability to pressure palsies hidradenoma high grade glioma hyperglycemia hypertension hypertrophic cardiomyopathy immune system disease in situ carcinoma inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma invasive ductal carcinoma juvenile pilocytic astrocytoma keratoconjunctivitis sicca keratoconus kidney disease kidney failure large intestine cancer laryngeal squamous cell carcinoma leukemia lipoid nephrosis liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus nephritis lymphoid leukemia lymphoma macrocytic anemia major depressive disorder malaria malignant astrocytoma malignant mesothelioma malignant pleural mesothelioma medulloblastoma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma membranous glomerulonephritis microcystic adenoma migraine mixed glioma mixed oligodendroglioma-astrocytoma motor peripheral neuropathy mucinous adenocarcinoma multiple myeloma multiple sclerosis myelitis myelodysplastic syndrome myeloid leukemia myeloproliferative neoplasm myocardial infarction myoma nasopharynx carcinoma nephritis nephrosis nephrotic syndrome neuroblastoma neurodegenerative disease neuroendocrine carcinoma neuroendocrine tumor neuropathy neurotic disorder nevoid basal cell carcinoma syndrome nodular prostate nonpapillary renal cell carcinoma nutmeg liver obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oligodendroglioma osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma parapsoriasis periarthritis peripheral nervous system disease pheochromocytoma pilocytic astrocytoma placenta cancer platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 porphyria cutanea tarda primary immunodeficiency disease proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma protein C deficiency protein S deficiency proteinuria protoplasmic astrocytoma psoriasis pustulosis of palm and sole qualitative platelet defect rabies renal carcinoma renal cell carcinoma retinal disease retinal vein occlusion retinitis retinopathy of prematurity rhabdomyosarcoma rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma severe combined immunodeficiency silent myocardial infarction skin melanoma skin papilloma skin tag small intestine cancer spindle cell sarcoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma synovial sarcoma syringoma tendinitis thromboangiitis obliterans thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue cancer tongue squamous cell carcinoma tuberculosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer urofacial syndrome uterine corpus cancer vascular disease viral infectious disease von Willebrand's disease 1 von Willebrand's disease yellow fever
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
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
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
9365	klotho	KL Aliases: KLA alpha-klotho	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 Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy 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 IgA glomerulonephritis Kummell's 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 Prinzmetal angina Reye syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Smith-McCort dysplasia Werner syndrome X-linked Aarskog syndrome X-linked dominant hypophosphatemic rickets Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acromegaly actinic keratosis acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adult respiratory distress syndrome alcohol dependence alcohol use disorder alternating hemiplegia of childhood amnestic disorder amyotrophic lateral sclerosis androgen insensitivity syndrome anemia aortic valve disease 1 aortic valve disease aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome bacterial infectious disease bacterial sepsis beta thalassemia bicuspid aortic valve disease bipolar disorder bladder carcinoma bone disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer cardiomyopathy cardiovascular system disease carotid artery disease carotid artery thrombosis carotid stenosis cartilage disease central nervous system disease cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chondrocalcinosis chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congestive heart failure connective tissue disease coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma dedifferentiated liposarcoma dementia demyelinating disease depressive disorder diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dysthymic disorder embryoma encephalitis encephalomyelitis end stage renal disease endomyocardial fibrosis enthesopathy epilepsy essential hypertension exostosis familial adenomatous polyposis familial hyperlipidemia familial nephrotic syndrome follicular adenoma fundus albipunctatus gastroenteritis giant cell glioblastoma glioblastoma glomerulonephritis granular cell carcinoma growth hormone secreting pituitary adenoma head and neck squamous cell carcinoma heart disease hematologic cancer hepatocellular carcinoma high grade glioma hypercalcemia hyperglycemia hyperinsulinism hyperparathyroidism hyperphosphatemia hyperphosphatemic familial tumoral calcinosis hyperpituitarism hypertension hypertrophic cardiomyopathy hypoglycemia hypophosphatemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis infertility insulinoma intellectual disability intracranial embolism invasive ductal carcinoma kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer late onset Parkinson's disease learning disability lipoid nephrosis liposarcoma liver cancer liver cirrhosis localized scleroderma lung benign neoplasm lung cancer lung carcinoma lung large cell carcinoma lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma macrocytic anemia major depressive disorder marasmus melancholic depression melanoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microphthalmia middle cerebral artery infarction monoclonal gammopathy of uncertain significance mood disorder multiple myeloma multiple sclerosis muscular dystrophy musculoskeletal system disease myelitis myocardial infarction myositis nephritis nephrocalcinosis nephrolithiasis nephrosis nephrotic syndrome nervous system disease neurodegenerative disease neurotic disorder newborn respiratory distress syndrome nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea osteitis fibrosa osteoarthritis osteomalacia osteonecrosis osteoporosis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma parathyroid adenoma parathyroid carcinoma parathyroid gland disease periarthritis phosphorus metabolism disease placental insufficiency pleomorphic liposarcoma polycystic kidney disease 1 porphyria cutanea tarda postinflammatory pulmonary fibrosis premature menopause priapism primary hyperparathyroidism primary ovarian insufficiency primary pulmonary hypertension progeria progressive muscular atrophy prostate cancer prostate carcinoma protein-energy malnutrition pulmonary emphysema pulmonary fibrosis pulmonary large cell neuroendocrine carcinoma pyoureter reflex sympathetic dystrophy relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma renal osteodystrophy retinal disease retinitis pigmentosa 1 retinitis pigmentosa retinitis retrograde amnesia rheumatoid arthritis rickets sarcomatoid renal cell carcinoma schizophrenia scleroderma seborrheic keratosis secondary hyperparathyroidism sickle cell anemia silent myocardial infarction skin disease skin melanoma spondyloarthropathy spondylosis squamous cell carcinoma systemic scleroderma tendinitis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia ureteral obstruction uric acid nephrolithiasis urinary bladder cancer vascular dementia vascular disease
6476	sucrase-isomaltase	SI Aliases: Alpha-methylglucosidase Oligo-1,6-glucosidase Oligosaccharide alpha-1,6-glucosidase alpha-glucosidase	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 Barrett's esophagus Clostridium difficile colitis Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 brachydactyly type C brachydactyly cancer cardiomyopathy cardiovascular system disease cerebral degeneration chronic lymphocytic leukemia chylomicron retention disease colitis colorectal cancer colorectal carcinoma congenital disorder of glycosylation congenital muscular dystrophy congenital sucrase-isomaltase deficiency coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia gastric cardia adenocarcinoma gastroenteritis gastrointestinal system disease glucose intolerance 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 granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia ileitis ileocolitis intestinal disease irritable bowel syndrome kwashiorkor lactose intolerance large intestine cancer limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder marasmus melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 nephrolithiasis neurocirculatory asthenia neurodegenerative disease nutmeg liver 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 oculopharyngeal muscular dystrophy peptic ulcer disease prediabetes syndrome progressive muscular atrophy prolactinoma protein-energy malnutrition punctate palmoplantar keratoderma type III rippling muscle disease 2 sudden infant death syndrome tropical sprue tubular adenocarcinoma type 2 diabetes mellitus uric acid nephrolithiasis viral infectious disease yellow fever
4069	lysozyme	LYZ Aliases: renal amyloidosis	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 Behcet's disease Burkitt lymphoma Crohn's colitis Crohn's disease Graves' disease Langerhans-cell histiocytosis Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Pick's disease Reye syndrome Shwachman-Diamond syndrome Sjogren's syndrome abdominal obesity-metabolic syndrome 1 acinar cell carcinoma acne acquired immunodeficiency syndrome actinic keratosis acute myeloid leukemia adenocarcinoma adenoid cystic carcinoma adenoma alcohol dependence alcohol use disorder allergic rhinitis alternating hemiplegia of childhood amyloidosis anorexia nervosa aphthous stomatitis arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome autonomic neuropathy bacterial infectious disease bacterial vaginosis biliary tract disease breast cancer breast carcinoma cancer candidiasis celiac disease central nervous system cancer central nervous system disease cerebral degeneration childhood leukemia cholestasis chronic ethmoiditis chronic monocytic leukemia chronic myelomonocytic leukemia chronic sphenoidal sinusitis colitis common cold complement deficiency congestive heart failure coronary artery disease craniosynostosis cribriform carcinoma dacryoadenitis dacryocystitis diabetes mellitus diabetic ketoacidosis diarrhea dysentery egg allergy endocrine exophthalmos essential hypertension exanthem familial hyperlipidemia familial mediterranean fever familial nephrotic syndrome familial visceral amyloidosis follicular adenoma gallbladder disease gastritis gastroduodenal Crohn's disease gastroenteritis gastrointestinal stromal tumor gastrointestinal system disease gingivitis gliosarcoma glomerulonephritis granular cell carcinoma hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypertension hyperthyroidism hypohidrotic ectodermal dysplasia ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease intestinal disease intestinal infectious disease jejunoileitis juvenile myelomonocytic leukemia juvenile rheumatoid arthritis keratoconjunctivitis sicca kidney disease kidney failure leukemia lipoid nephrosis liver cancer liver disease malignant fibrous histiocytoma mastitis meningitis mevalonic aciduria microcystic adenoma mixed glioma myeloid sarcoma nephritis nephrosis nephrotic syndrome nervous system disease neuropathy nodular prostate non-Langerhans-cell histiocytosis obsolete malignant histiocytosis obsolete ymphosarcoma obstructive jaundice oral candidiasis oral mucosa leukoplakia papillary adenoma parapsoriasis periodontal disease peripheral nervous system disease polyneuropathy post-traumatic stress disorder proctitis prostatic adenoma proteinuria psoriasis pulmonary tuberculosis purpura pustulosis of palm and sole pyoureter reticulohistiocytic granuloma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcoidosis seborrheic keratosis shigellosis sickle cell anemia skin disease spiradenoma stomach cancer stomach carcinoma systemic lupus erythematosus thyrotoxicosis tuberculosis tuberculous pneumothorax tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uremia ureteral obstruction uveoparotid fever vaginitis vasomotor rhinitis vulvitis vulvovaginitis white sponge nevus
10020	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	GNE Aliases: Uae1 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	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 Bell's palsy GNE myopathy Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Paget's disease of bone Pick's disease Reye syndrome X-linked myopathy with excessive autophagy Zika fever amnestic disorder attention deficit hyperactivity disorder 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 cerebral degeneration cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma congenital central hypoventilation syndrome congenital hypothyroidism dementia distal myopathy endomyocardial fibrosis epilepsy esophagitis facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis frontotemporal dementia gastroesophageal reflux disease hypertrophic cardiomyopathy hypothyroidism inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 inclusion body myositis inguinal hernia intrahepatic cholangiocarcinoma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy mixed sleep apnea mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis muscular dystrophy myopathy myositis myxedema neuromuscular disease nonpapillary renal cell carcinoma 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 obstructive sleep apnea oculopharyngeal muscular dystrophy pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peptic esophagitis renal carcinoma renal cell carcinoma retrograde amnesia sarcomatoid renal cell carcinoma scoliosis sialuria sleep apnea thrombocytopenia tibial muscular dystrophy visual epilepsy
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
60495	heparanase 2 (inactive)	HPSE2 Aliases: HPA2 HPR2	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 Bloom syndrome Down syndrome Evans' syndrome Glanzmann's thrombasthenia Japanese encephalitis Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma allergic asthma arteriosclerotic cardiovascular disease asthma atherosclerosis autoimmune thrombocytopenic purpura bladder carcinoma breast cancer cancer cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chronic lymphocytic leukemia coronary artery disease coronary thrombosis cribriform carcinoma cryptorchidism dengue disease diabetic ketoacidosis dyskeratosis congenita essential hypertension essential thrombocythemia factor VIII deficiency gestational diabetes gestational trophoblastic neoplasm glaucoma granular cell carcinoma gray platelet syndrome head and neck squamous cell carcinoma hepatitis B hepatitis C hydronephrosis hypertension kidney failure kwashiorkor leiomyoma marasmus migraine multiple myeloma myelodysplastic syndrome myocardial infarction myofibroma nutmeg liver nutrition disease obsolete constipation obsolete type 1 diabetes mellitus 9 ocular hypertension platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 prostate cancer prostate carcinoma protein-energy malnutrition proteinuria qualitative platelet defect silent myocardial infarction squamous cell carcinoma tongue squamous cell carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus urethral obstruction urinary bladder cancer urinary tract obstruction urofacial syndrome uterine fibroid vesicoureteral reflux viral infectious disease yellow fever
3938	lactase	LCT	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 Clostridium difficile colitis Crohn's colitis Crohn's disease EEC syndrome Gilles de la Tourette syndrome Leydig cell tumor Pick's disease Reye syndrome Sertoli cell-only syndrome T-cell acute lymphoblastic leukemia Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 acute myocardial infarction acute retinal necrosis syndrome adult T-cell leukemia/lymphoma adult respiratory distress syndrome allergic asthma antiphospholipid syndrome antithrombin III deficiency asthma autoimmune polyendocrine syndrome bullous congenital ichthyosiform erythroderma cancer celiac disease cerebral degeneration colitis colorectal cancer colorectal carcinoma congenital lactase deficiency coronary artery disease coronary thrombosis cystic fibrosis diarrhea dysentery ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma eosinophilic esophagitis essential hypertension extraosseous Ewing sarcoma extraosseous Ewings sarcoma-primitive neuroepithelial tumor familial adenomatous polyposis 1 familial adenomatous polyposis gastritis gastroenteritis gastrointestinal system disease gestational diabetes gingival recession hypertension ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intestinal infectious disease intrinsic asthma irritable bowel syndrome islet cell tumor kidney disease kwashiorkor lactic acidosis lactose intolerance large intestine cancer lupus erythematosus marasmus myocardial infarction neurocirculatory asthenia newborn respiratory distress syndrome nutrition disease obesity obsessive-compulsive disorder oligospermia osteomyelitis osteoporosis pneumonia polycystic ovary syndrome prostate cancer prostate carcinoma protein C deficiency protein S deficiency protein-energy malnutrition schizophrenia silent myocardial infarction systemic lupus erythematosus testicular cancer thrombophilia transthyretin amyloidosis tropical sprue ulcerative colitis
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
4758	neuraminidase 1	NEU1 Aliases: sialidase-1	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 Crohn's colitis Crohn's disease Ewing sarcoma of bone GM1 gangliosidosis type 1 GM1 gangliosidosis IgA glomerulonephritis Laron syndrome Marfan syndrome Paget's disease of bone Pick's disease Reye syndrome Unverricht-Lundborg syndrome achondroplasia acquired hyperkeratosis adenocarcinoma adenoma allergic rhinitis anaplastic astrocytoma arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease aspartylglucosaminuria atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome basal cell carcinoma bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bladder urothelial carcinoma blepharospasm bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cataract cerebral degeneration childhood cerebral astrocytoma childhood osteosarcoma cholangiocarcinoma chondrodysplasia punctata chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congenital nystagmus coronary artery disease cribriform carcinoma cutaneous Paget's disease dentatorubral-pallidoluysian atrophy dermoid cyst of ovary dissociated nystagmus early myoclonic encephalopathy embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endomyocardial fibrosis enterocele epilepsy fibrillary astrocytoma focal hand dystonia fucosidosis galactosialidosis gastroesophageal junction adenocarcinoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance glycoproteinosis granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hyperglycemia hypertrophic cardiomyopathy idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza inguinal hernia intellectual disability intrahepatic cholangiocarcinoma invasive ductal carcinoma juvenile pilocytic astrocytoma kidney disease large intestine cancer learning disability livedoid vasculitis liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease malignant astrocytoma mammary Paget's disease melanoma meningitis microphthalmia mucolipidosis mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia nephritis nervous system cancer nonpapillary renal cell carcinoma osteochondrodysplasia osteosarcoma ovarian cancer ovarian carcinoma ovary adenocarcinoma papillary carcinoma papillary renal cell carcinoma pathologic nystagmus pilocytic astrocytoma postinflammatory pulmonary fibrosis prediabetes syndrome progressive myoclonus epilepsy 1A progressive myoclonus epilepsy 4 progressive myoclonus epilepsy prostate cancer prostate carcinoma proteinuria protoplasmic astrocytoma pulmonary fibrosis recurrent corneal erosion renal carcinoma renal cell carcinoma retinal disease retinitis rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scoliosis sebaceous carcinoma sensorineural hearing loss serous cystadenocarcinoma situs inversus skin melanoma speech disorder spontaneous ocular nystagmus steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma sweat gland cancer systemic lupus erythematosus tarsal-carpal coalition syndrome transitional cell carcinoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis uterine corpus cancer vascular skin disease vasomotor rhinitis visual epilepsy vitiligo
10724	O-GlcNAcase	OGA Aliases: MEA5 NCOAT nuclear cytoplasmic O-GlcNAcase and acetyltransferase	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 Fabry disease GM1 gangliosidosis GM2 gangliosidosis, AB variant GM2 gangliosidosis Gaucher's disease Gilles de la Tourette syndrome Lewy body dementia Marfan syndrome Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sandhoff disease Tay-Sachs disease Timothy syndrome abdominal obesity-metabolic syndrome 1 acoustic neuroma acute myocardial infarction alternating hemiplegia of childhood amnestic disorder amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis angiomatous meningioma anterior horn cell disease aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis autonomic neuropathy autosomal dominant cerebellar ataxia autosomal recessive distal hereditary motor neuronopathy 1 benign meningioma beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease central nervous system disease cerebral convexity meningioma cerebral degeneration chronic kidney disease chylomicron retention disease clear cell meningioma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ia congenital disorder of glycosylation type I congestive heart failure connective tissue benign neoplasm coronary artery disease coronary thrombosis cystitis dermatitis diabetes mellitus diabetic ketoacidosis dystonia embryoma encephalitis encephalomyelitis epilepsy epithelioid sarcoma essential hypertension fibrous meningioma gangliosidosis gastroenteritis gastrointestinal system disease gestational diabetes giant cell glioblastoma gingivitis glioblastoma glomerulonephritis glucose intolerance glycoproteinosis heart disease hepatocellular carcinoma hydronephrosis hypertension ileitis ileocolitis intestinal disease intraorbital meningioma intraventricular meningioma kidney disease kidney failure kwashiorkor large intestine cancer lateral sclerosis lingual-facial-buccal dyskinesia lipid storage disease lipoid nephrosis liver cancer liver cirrhosis long QT syndrome 8 lung cancer lung carcinoma lymphoplasmacyte-rich meningioma lysosomal storage disease marasmus membranous glomerulonephritis meningioma meningothelial meningioma microcystic meningioma microphthalmia motor neuron disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IVB mucopolysaccharidosis multiple acyl-CoA dehydrogenase deficiency multiple myeloma myelitis myocardial infarction nephritis nephrosis nervous system disease neurodegenerative disease nutrition disease obesity obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 olfactory groove meningioma ovarian cancer ovarian carcinoma panic disorder parasagittal meningioma pituitary adenoma prediabetes syndrome progressive familial intrahepatic cholestasis 1 progressive muscular atrophy progressive supranuclear palsy protein-energy malnutrition psammomatous meningioma pyoureter renal osteodystrophy retrograde amnesia sarcoma secondary Parkinson disease secretory meningioma silent myocardial infarction situs inversus sphingolipidosis spinal meningioma spindle cell sarcoma tauopathy thalassemia transitional meningioma tricuspid valve stenosis trigonitis tuberous sclerosis 1 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 visual epilepsy
55741	ER degradation enhancing alpha-mannosidase like protein 2	EDEM2 Aliases: FLJ10783 bA4204.1	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 Pick's disease Reye syndrome cerebral degeneration leiomyoma myofibroma schizophrenia uterine fibroid
131375	lysozyme like 4	LYZL4 Aliases: LYC4 MGC26768	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 Pick's disease Reye syndrome cerebral degeneration
3425	alpha-L-iduronidase	IDUA Aliases: MPS1 MPSI mucopolysaccharidosis type I	Homo sapiens (human)	Alzheimer's disease Balo concentric sclerosis Creutzfeldt-Jakob disease Fabry disease Gaucher's disease Hartnup disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Klippel-Feil syndrome Krabbe disease Laron syndrome Loeys-Dietz syndrome Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Richter's syndrome Scheie syndrome Sly syndrome T-cell acute lymphoblastic leukemia Weissenbacher-Zweymuller syndrome achondroplasia acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia adrenoleukodystrophy adult medulloblastoma agranulocytosis anemia anogenital venereal wart aortic valve disease 2 aortic valve insufficiency aortic valve stenosis autosomal recessive hypophosphatemic rickets benign mesothelioma blindness bone disease brain cancer breast cancer breast carcinoma cancer cardiomyopathy cartilage disease central nervous system disease cerebral palsy childhood medulloblastoma chromophobe renal cell carcinoma chronic lymphocytic leukemia chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart communicating hydrocephalus congenital heart disease connective tissue disease deficiency anemia dental caries dentin caries depressive disorder disease of mental health disease of metabolism dysthymic disorder embryoma endomyocardial fibrosis essential hypertension gastric ulcer giant cell glioblastoma gingival hypertrophy gingival overgrowth glaucoma glioblastoma glycogen storage disease II glycoproteinosis head and neck squamous cell carcinoma hemiplegia hepatocellular carcinoma high grade glioma hydrocephalus hypertension hypertrophic cardiomyopathy hypochromic anemia inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia inherited metabolic disorder intellectual disability intracranial hypotension large intestine cancer learning disability leukopenia lipid storage disease liver cancer liver carcinoma lung benign neoplasm lung carcinoma lymphoblastic lymphoma lysosomal storage disease macrocytic anemia major depressive disorder malignant mesothelioma medulloblastoma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma microcytic anemia mitral valve insufficiency mitral valve prolapse mucolipidosis II alpha/beta mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih/s mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia multiple myeloma narcolepsy nervous system disease neurotic disorder neutropenia nonpapillary renal cell carcinoma obsolete melancholia obsolete ymphosarcoma obstructive hydrocephalus obstructive sleep apnea osteochondrodysplasia osteoporosis otitis media pancreatic ductal adenocarcinoma papillary renal cell carcinoma primary pulmonary hypertension psychotic disorder recurrent corneal erosion renal carcinoma renal cell carcinoma retinal disease retinitis sarcomatoid renal cell carcinoma scoliosis senile degeneration of brain sensorineural hearing loss severe congenital neutropenia skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy sphingolipidosis spinal cord disease spondylolisthesis stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma tracheal stenosis tyrosinemia type I tyrosinemia ulcerative colitis
4669	N-acetyl-alpha-glucosaminidase	NAGLU Aliases: NAG Sanfilippo disease IIIB	Homo sapiens (human)	Alzheimer's disease Burkitt lymphoma Charcot-Marie-Tooth disease axonal type 2V Clouston syndrome Dent disease Fanconi syndrome Glanzmann's thrombasthenia Kluver-Bucy syndrome Legg-Calve-Perthes disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma amnestic disorder amyloidosis appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrophic gastritis autistic disorder cancer cardiovascular system disease cholera chronic kidney disease chronic pyelonephritis cone-rod dystrophy congestive heart failure coronary artery disease cribriform carcinoma cystinosis cystitis dementia dentatorubral-pallidoluysian atrophy diabetes mellitus diabetic ketoacidosis diarrhea embryoma epilepsy essential thrombocythemia focal segmental glomerulosclerosis follicular adenoma fundus albipunctatus glomerulonephritis granular cell carcinoma gray platelet syndrome heart disease hydronephrosis hypertrichosis hypertrophic cardiomyopathy 1 intellectual disability kidney disease kidney failure learning disability lipoid nephrosis liver cirrhosis lysosomal storage disease malignant pleural mesothelioma microcystic adenoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis multiple epiphyseal dysplasia multiple myeloma myelodysplastic syndrome nephritis nephrosis neuroblastoma neurodegenerative disease oculocerebrorenal syndrome oculocutaneous albinism type IA osteochondrodysplasia otitis media panic disorder papillary adenoma parapsoriasis platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 progressive familial intrahepatic cholestasis 1 progressive myoclonus epilepsy prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole pyoureter qualitative platelet defect renal osteodystrophy retinitis pigmentosa retrograde amnesia sensorineural hearing loss spondyloepimetaphyseal dysplasia, Sponastrime type stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 trigonitis tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease visual epilepsy
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
8692	hyaluronidase 2	HYAL2 Aliases: LUCA2 LuCa-2 PH-20 homolog lysosomal hyaluronidase	Homo sapiens (human)	B-cell lymphoma acute chest syndrome adenocarcinoma adenoma adult lymphoma arthritis arthropathy breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma childhood lymphoma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital heart disease cribriform carcinoma dysplastic nevus syndrome embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis gastroenteritis gliosarcoma granular cell carcinoma high grade glioma ileitis ileocolitis inflammatory bowel disease large intestine cancer lung benign neoplasm lung cancer lung carcinoma lung small cell carcinoma lymphoma melanoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis obsolete Matthew-Wood syndrome obsolete ymphosarcoma osteoarthritis primary pulmonary hypertension pulmonary hypertension reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma skin melanoma squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer
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
55331	alkaline ceramidase 3	ACER3 Aliases: APHC FLJ11238 alkaline phytoceramidase	Homo sapiens (human)	Cauda equina syndrome Laron syndrome achondroplasia acute myeloid leukemia cerebellar ataxia cerebellar disease cerebral degeneration dystonia hepatocellular carcinoma intellectual disability learning disability leukodystrophy liver cancer melanoma metabolic dysfunction-associated steatohepatitis neurogenic bladder neuropathy peripheral nervous system disease skin melanoma
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
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
152831	klotho beta	KLB Aliases: b-Klotho	Homo sapiens (human)	Clostridium difficile colitis allergic rhinitis autosomal dominant hypophosphatemic rickets breast cancer breast carcinoma cancer cartilage-hair hypoplasia diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism embryoma familial hyperlipidemia gestational diabetes hepatocellular carcinoma intrahepatic cholestasis of pregnancy invasive ductal carcinoma irritable bowel syndrome kidney disease kidney failure liver cancer lung cancer lung non-small cell carcinoma neurocirculatory asthenia nodular prostate obesity ovarian disease papillary adenocarcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma prostatic adenoma steatotic liver disease thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma type 2 diabetes mellitus uremia vasomotor rhinitis

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