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	October 29, 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 "glycoprotein metabolic process"

Displaying entries **1 - 25** of **17753** 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
2817	glypican 1	GPC1 Aliases: glypican glypican proteoglycan 1	Homo sapiens (human)	Albright's hereditary osteodystrophy 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 Duchenne muscular dystrophy ITM2B-related cerebral amyloid angiopathy 1 ITM2B-related cerebral amyloid angiopathy 2 Kallmann syndrome Niemann-Pick disease type C1 Niemann-Pick disease Pick's disease Reye syndrome Sheehan syndrome Simpson-Golabi-Behmel syndrome type 1 adenocarcinoma adenoma ameloblastoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma biliary atresia borderline personality disorder breast cancer breast carcinoma cancer central nervous system cancer cerebral amyloid angiopathy cerebral degeneration cervical cancer cholangiocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism craniosynostosis cribriform carcinoma embryoma epilepsy esophagus squamous cell carcinoma eyelid disease fibrodysplasia ossificans progressiva gallbladder cancer gallbladder carcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hemochromatosis type 1 hemochromatosis hepatocellular carcinoma high grade glioma hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypothyroidism intermittent explosive disorder intrahepatic cholangiocarcinoma isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency large intestine cancer liver cancer lung adenocarcinoma lung cancer malignant epithelial mesothelioma malignant mesothelioma microphthalmia mixed glioma muscular dystrophy myositis ossificans myxedema nodular prostate obsolete Matthew-Wood syndrome ophthalmoplegia ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma panhypopituitarism placental insufficiency prostate cancer prostate carcinoma prostatic adenoma pseudohypoparathyroidism pseudopseudohypoparathyroidism rheumatoid arthritis schizophrenia squamous cell carcinoma thymus gland disease tongue squamous cell carcinoma tubular adenocarcinoma visual epilepsy xanthomatosis
27087	beta-1,3-glucuronyltransferase 1	B3GAT1 Aliases: GlcAT-P HNK-1 NK-1 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 glucuronosyltransferase P	Homo sapiens (human)	Alport syndrome 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 Down syndrome Ewing sarcoma Felty's syndrome Goodpasture syndrome HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Lown-Ganong-Levine syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Takayasu's arteritis Wolff-Parkinson-White syndrome Zika fever acoustic neuroma acquired hyperkeratosis acquired immunodeficiency syndrome actinic keratosis acute lymphoblastic leukemia adult acute lymphocytic leukemia aggressive NK-cell leukemia agnosia agranulocytosis allergic asthma anaplastic astrocytoma anxiety disorder arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome axonal neuropathy bone disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cartilage disease cataract 5 multiple types celiac disease cellular schwannoma cerebral cavernous malformation 1 cerebral degeneration cherubism childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia chromophobe renal cell carcinoma chronic NK-cell lymphocytosis chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma complex regional pain syndrome congenital myasthenic syndrome connective tissue disease coronary artery disease critical illness polyneuropathy depressive disorder diabetic ketoacidosis disease of mental health dysthymic disorder embryoma encephalomyelitis epidermolysis bullosa epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exostosis fibrillary astrocytoma fibrous dysplasia gastroparesis gemistocytic astrocytoma generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma glycine encephalopathy granulomatosis with polyangiitis hairy cell leukemia hemophagocytic lymphohistiocytosis hepatitis C hepatitis D high grade glioma human immunodeficiency virus infectious disease hypersensitivity vasculitis hypertension idiopathic interstitial pneumonia inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza intrinsic asthma juvenile pilocytic astrocytoma keratoacanthoma large intestine cancer leukemia leukopenia lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoblastic lymphoma lymphoid leukemia lymphopenia major depressive disorder malaria malignant astrocytoma malignant peripheral nerve sheath tumor melancholic depression melanoma melanotic neurilemmoma meningoencephalitis metanephric adenoma mucocutaneous leishmaniasis multiple myeloma multiple sclerosis myasthenia gravis myeloid leukemia myeloproliferative disorder with eosinophilia neurilemmoma neuroblastoma neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neuropathy neurotic disorder neutropenia nonpapillary renal cell carcinoma obsolete constipation obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea osteoarthritis papillary carcinoma papillary renal cell carcinoma papilloma periapical granuloma peripheral nervous system disease phobic disorder pilocytic astrocytoma plasma cell neoplasm pleomorphic adenoma plexiform schwannoma polyarteritis nodosa polyneuropathy polyradiculoneuropathy post-traumatic stress disorder postinflammatory pulmonary fibrosis primary biliary cholangitis primary sclerosing cholangitis prostate cancer prostate carcinoma protoplasmic astrocytoma psychotic disorder pulmonary fibrosis renal carcinoma renal cell carcinoma retinal disease retinitis rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder sclerosing cholangitis severe congenital neutropenia skin melanoma speech-language disorder-1 spindle cell sarcoma squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer subependymal giant cell astrocytoma sudden infant death syndrome tongue squamous cell carcinoma tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus ulcerative colitis uveal melanoma viral infectious disease
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
6448	N-sulfoglucosamine sulfohydrolase	SGSH Aliases: HSS MPS3A SFMD mucopolysaccharidosis type IIIA sulfamidase	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 Balo concentric sclerosis Kearns-Sayre syndrome Kluver-Bucy syndrome Pick's disease Reye syndrome Schwartz-Jampel syndrome 1 Stevens-Johnson syndrome adrenoleukodystrophy ankylosing spondylitis anorexia nervosa arthritis arthropathy beta-mannosidosis cancer cardiomyopathy central nervous system disease central nervous system origin vertigo cerebral degeneration chronic obstructive pulmonary disease cone-rod dystrophy congenital nystagmus depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea dissociated nystagmus embryoma endomyocardial fibrosis eosinophilic esophagitis epilepsy fundus albipunctatus fundus dystrophy hypertrichosis hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy intellectual disability learning disability lingual-facial-buccal dyskinesia lysosomal storage disease major depressive disorder melancholic depression movement disease mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis mucosulfatidosis multiple epiphyseal dysplasia narcolepsy nervous system disease neurodegeneration with brain iron accumulation neurodegenerative disease obsolete melancholia osteoarthritis osteochondrodysplasia pathologic nystagmus retinitis pigmentosa sensorineural hearing loss spontaneous ocular nystagmus visual epilepsy
64083	golgi phosphoprotein 3	GOLPH3 Aliases: GOPP1 GPP34 MIDAS Vps74 coat-protein golgi peripheral membrane protein 1, 34 kDa golgi protein golgi-associated 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 Barrett's esophagus Glanzmann's thrombasthenia Hermansky-Pudlak syndrome 2 Japanese encephalitis Lyme disease Pick's disease Reye syndrome X-linked dyskeratosis congenita alternating hemiplegia of childhood anaplastic astrocytoma ankyloblepharon-ectodermal defects-cleft lip/palate syndrome anxiety disorder autonomic neuropathy bladder carcinoma blood coagulation disease breast cancer breast carcinoma breast fibroadenoma bronchus cancer bronchus carcinoma cancer carcinoma catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia central nervous system cancer central nervous system disease cerebral degeneration chikungunya childhood astrocytic tumor childhood cerebral astrocytoma childhood germ cell cancer cholera chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation cystadenoma dengue disease dengue hemorrhagic fever depressive disorder dyskeratosis congenita dysplastic nevus syndrome dysthymic disorder embryoma embryonal cancer endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension fibrillary astrocytoma fibromyalgia gallbladder disease gemistocytic astrocytoma generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gliosarcoma gray platelet syndrome hematopoietic system disease hepatitis A hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension hypochromic anemia hypohidrotic ectodermal dysplasia influenza juvenile pilocytic astrocytoma large intestine cancer liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma major depressive disorder malaria malignant astrocytoma melancholic depression melanoma microphthalmia migraine mixed glioma mucinous adenocarcinoma nervous system disease neuroblastoma neurotic disorder nodular prostate nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete inherited blood coagulation disease obsolete melancholia ovarian cancer ovarian carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma papilloma phobic disorder pilocytic astrocytoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma qualitative platelet defect renal carcinoma renal cell carcinoma rhabdomyosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma spinal stenosis squamous cell papilloma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue cancer urinary bladder cancer uterine corpus cancer viral infectious disease yellow fever
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
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
6484	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	ST3GAL4 Aliases: FLJ11867 SAT3 ST3Gal IV STZ	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 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Pick's disease Reye syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute myeloid leukemia acute myocardial infarction adenoid cystic carcinoma alopecia amnestic disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant intellectual developmental disorder 4 autosomal dominant intellectual developmental 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 brain stem infarction campomelic dysplasia cancer carcinoma cardiomyopathy cataract cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma chromophobe renal cell carcinoma chronic fatigue syndrome clear cell renal cell carcinoma collecting duct carcinoma colon carcinoma colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis craniometaphyseal dysplasia dementia depressive disorder diabetes mellitus diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism distal myopathy dysthymic disorder embryoma encephalitis encephalomyelitis endomyocardial fibrosis essential hypertension facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial hyperlipidemia frontotemporal dementia gallbladder disease gestational diabetes granuloma annulare hepatocellular carcinoma hyperglycemia hyperinsulinism hypertension hypertrophic cardiomyopathy hypoglycemia large intestine cancer limb-girdle muscular dystrophy liver cancer liver disease major depressive disorder melancholic depression melanoma mucopolysaccharidosis IV mucopolysaccharidosis IVA muscular dystrophy myelitis myocardial infarction neuropathy neurotic disorder 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 obsolete melancholia obsolete type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy osteoporosis pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy renal carcinoma renal cell carcinoma renal osteodystrophy retinal disease retinitis retrograde amnesia salivary gland adenoid cystic carcinoma salivary gland cancer sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma squamous cell carcinoma steatotic liver disease thrombophilia tongue squamous cell carcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus
26232	F-box protein 2	FBXO2 Aliases: FBX2 Fbg1 Fbs1 Nfb42	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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome cerebral degeneration hyperglycemia rheumatoid arthritis stomach cancer stomach carcinoma
6489	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	ST8SIA1 Aliases: ST8Sia I	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 arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis breast cancer breast carcinoma cancer central nervous system cancer cerebral degeneration chronic myeloid leukemia colorectal cancer colorectal carcinoma coronary artery disease endocrine exophthalmos gallbladder disease giant cell glioblastoma glioblastoma gliosarcoma high grade glioma invasive ductal carcinoma large intestine cancer liver disease lung benign neoplasm lung carcinoma melanoma mixed glioma multiple sclerosis neuroblastoma primary immunodeficiency disease secondary Parkinson disease skin melanoma thromboangiitis obliterans toxic encephalopathy
9957	heparan sulfate-glucosamine 3-sulfotransferase 1	HS3ST1 Aliases: 3OST1	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 arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer cerebral degeneration chondrosarcoma coronary artery disease embryoma herpes simplex
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
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
2131	exostosin glycosyltransferase 1	EXT1 Aliases: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase ttv	Homo sapiens (human)	Alzheimer's disease Cenani-Lenz syndactyly syndrome Cornelia de Lange syndrome 4 Cornelia de Lange syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Legg-Calve-Perthes disease Lennox-Gastaut syndrome Leri-Weill dyschondrosteosis Maffucci syndrome Ollier disease Pick's disease Reye syndrome Ritter's disease Werner syndrome achondroplasia acute lymphoblastic leukemia adenocarcinoma adenoma adult acute lymphocytic leukemia anaplastic astrocytoma antisocial personality disorder arthritis arthropathy autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma cancer cartilage disease central nervous system cancer cerebral degeneration cervix uteri carcinoma in situ cherubism childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia chondroblastoma chondroma chondrosarcoma cleidocranial dysplasia clubfoot conduct disorder connective tissue disease cranial nerve disease cranial nerve palsy cribriform carcinoma cryoglobulinemia diabetes mellitus disease of mental health embryoma endometrial cancer endometrial carcinoma epilepsy exostosis familial hypercholesterolemia familial nephrotic syndrome fibrillary astrocytoma fibromyalgia frontotemporal dementia gallbladder disease gemistocytic astrocytoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatitis A hepatitis B hepatitis C hepatitis E hepatitis hepatocellular carcinoma hereditary multiple exostoses high grade glioma humeroradial synostosis hydrocephalus hyperostosis hypogonadism hypogonadotropic hypogonadism 7 with or without anosmia immune system disease intellectual disability juvenile myoclonic epilepsy juvenile pilocytic astrocytoma learning disability leukemia lipoid nephrosis liver cancer liver disease lupus nephritis malignant astrocytoma membranous glomerulonephritis metachondromatosis microcephaly mixed glioma mucopolysaccharidosis III mucopolysaccharidosis type IIIA multiple myeloma myositis nephrotic syndrome osteoarthritis osteonecrosis osteopoikilosis osteoporosis osteosarcoma periarthritis personality disorder pilocytic astrocytoma progeria protoplasmic astrocytoma psychotic disorder radioulnar synostosis rectal benign neoplasm rectum adenocarcinoma rectum cancer rheumatoid arthritis schizophrenia scoliosis spinal cord disease subependymal giant cell astrocytoma tendinitis thrombophilia trichorhinophalangeal syndrome type II tubular adenocarcinoma type 2 diabetes mellitus urinary tract obstruction uterine corpus cancer vasculitis vesicoureteral reflux visual epilepsy
2132	exostosin glycosyltransferase 2	EXT2 Aliases: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase SOTV	Homo sapiens (human)	Alzheimer's disease Cenani-Lenz syndactyly syndrome Dent disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Leri-Weill dyschondrosteosis Maffucci syndrome Marfan syndrome Ollier disease Pick's disease Reye syndrome achondroplasia adenosarcoma agnosia anemia arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma cancer cartilage disease cerebral degeneration cherubism chondrosarcoma cleidocranial dysplasia clubfoot congenital hypothyroidism congenital nystagmus connective tissue disease cranial nerve disease cranial nerve palsy craniosynostosis cryptorchidism developmental and epileptic encephalopathy 36 developmental coordination disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus epilepsy esophagitis essential hypertension exostosis familial hypercholesterolemia frontotemporal dementia gastroesophageal reflux disease hereditary multiple exostoses humeroradial synostosis hyperostosis hypertension hypertropia hypothyroidism immune system disease intellectual disability large intestine cancer learning disability lupus nephritis macrocytic anemia mechanical strabismus membranous glomerulonephritis metachondromatosis microcephaly mucopolysaccharidosis III mucopolysaccharidosis type IIIA myxedema nephroblastoma nonsyndromic congenital nail disorder 9 obsolete constipation ophthalmoplegia osteoarthritis osteonecrosis osteosarcoma parietal foramina pathologic nystagmus peptic esophagitis periarthritis radioulnar synostosis scoliosis situs inversus spontaneous ocular nystagmus stereotypic movement disorder strabismus tendinitis tuberous sclerosis type 2 diabetes mellitus ventricular septal defect visual epilepsy
3952	leptin	LEP	Homo sapiens (human)	Alzheimer's disease Huntington's disease Parkinson's disease abdominal obesity-metabolic syndrome 1 abdominal obesity-metabolic syndrome acute pancreatitis adult respiratory distress syndrome alcohol dependence alcoholic liver cirrhosis asthma breast cancer chronic obstructive pulmonary disease congenital leptin deficiency cystic fibrosis end stage renal disease familial hyperlipidemia gestational diabetes glucose intolerance hepatocellular carcinoma hepatocellular clear cell carcinoma hyperinsulinism hypertension hypogonadism lipid metabolism disorder lung non-small cell carcinoma metabolic dysfunction-associated steatotic liver disease obesity obstructive sleep apnea osteoarthritis osteoporosis pre-eclampsia primary biliary cholangitis renal cell carcinoma rhinitis short bowel syndrome steatotic liver disease type 2 diabetes mellitus
16846	leptin	Lep	Mus musculus (house mouse)	Alzheimer's disease Huntington's disease Parkinson's disease abdominal obesity-metabolic syndrome 1 abdominal obesity-metabolic syndrome acute pancreatitis adult respiratory distress syndrome alcohol dependence alcoholic liver cirrhosis asthma breast cancer chronic obstructive pulmonary disease congenital leptin deficiency cystic fibrosis end stage renal disease familial hyperlipidemia gestational diabetes glucose intolerance hepatocellular carcinoma hepatocellular clear cell carcinoma hyperinsulinism hypertension hypogonadism lipid metabolism disorder lung non-small cell carcinoma metabolic dysfunction-associated steatotic liver disease obesity obstructive sleep apnea osteoarthritis osteoporosis pre-eclampsia primary biliary cholangitis renal cell carcinoma rhinitis short bowel syndrome steatotic liver disease type 2 diabetes mellitus
25608	leptin	Lep	Rattus norvegicus (Norway rat)	Alzheimer's disease Huntington's disease Parkinson's disease abdominal obesity-metabolic syndrome 1 abdominal obesity-metabolic syndrome acute pancreatitis adult respiratory distress syndrome alcohol dependence alcoholic liver cirrhosis asthma breast cancer chronic obstructive pulmonary disease congenital leptin deficiency cystic fibrosis end stage renal disease familial hyperlipidemia gestational diabetes glucose intolerance hepatocellular carcinoma hepatocellular clear cell carcinoma hyperinsulinism hypertension hypogonadism lipid metabolism disorder lung non-small cell carcinoma metabolic dysfunction-associated steatotic liver disease obesity obstructive sleep apnea osteoarthritis osteoporosis pre-eclampsia primary biliary cholangitis renal cell carcinoma rhinitis short bowel syndrome steatotic liver disease type 2 diabetes mellitus
24506	insulin 2	Ins2	Rattus norvegicus (Norway rat)	Alzheimer's disease cholangiocarcinoma diabetes mellitus diabetic retinopathy disease of metabolism gestational diabetes hyperinsulinism hypertension hyperuricemia insulinoma maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young neonatal diabetes osteoarthritis pancreatic cancer pancreatic ductal carcinoma permanent neonatal diabetes mellitus prostate cancer steatotic liver disease type 1 diabetes mellitus 2 type 1 diabetes mellitus type 2 diabetes mellitus
9215	LARGE xylosyl- and glucuronyltransferase 1	LARGE1 Aliases: KIAA0609 like-acetylglucosaminyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome achondroplasia acoustic neuroma agnosia amphetamine abuse angiomatous meningioma atypical chronic myeloid leukemia, BCR-ABL1 negative 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 benign meningioma bilateral optic nerve hypoplasia blindness buphthalmos cancer cataract centronuclear myopathy cerebral convexity meningioma chronic monocytic leukemia clear cell meningioma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy 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 muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibrous meningioma fundus albipunctatus fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertropia idiopathic scoliosis imperforate anus intellectual disability intraorbital meningioma intraventricular meningioma isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly liver cancer lymphoid leukemia lymphoplasmacyte-rich meningioma major depressive disorder mechanical strabismus megaconial type congenital muscular dystrophy megalocornea melancholic depression meningioma meningocele meningothelial meningioma microcephaly microcystic meningioma microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myeloid leukemia myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline myopathy 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy olfactory groove meningioma ophthalmoplegia optic atrophy parasagittal meningioma pathologic nystagmus peripheral retinal degeneration pituitary adenoma pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 psammomatous meningioma recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rhabdomyosarcoma rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis secretory meningioma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spinal meningioma spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type transitional meningioma type 2 diabetes mellitus visual epilepsy
3423	iduronate 2-sulfatase	IDS Aliases: Hunter syndrome ID2S	Homo sapiens (human)	Balo concentric sclerosis Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome Fabry disease Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Griscelli syndrome Laron syndrome Marfan syndrome Sveinsson chorioretinal atrophy Waardenburg syndrome type 3 X-linked ichthyosis achondroplasia adrenoleukodystrophy agammaglobulinemia allergic asthma alternating hemiplegia of childhood amnestic disorder antiphospholipid syndrome asthma autism spectrum disorder autistic disorder autonomic neuropathy bone marrow cancer brain disease breast cancer breast carcinoma cancer central nervous system disease centronuclear myopathy X-linked centronuclear myopathy cerebral infarction cerebrovascular disease chronic obstructive pulmonary disease chylomicron retention disease communicating hydrocephalus congenital adrenal hyperplasia congenital central hypoventilation syndrome congenital ptosis congenital structural myopathy congestive heart failure craniosynostosis cystinuria depressive disorder diarrhea dysthymic disorder embryoma epilepsy fragile X syndrome galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease glycoproteinosis heart valve disease hydrocephalus hypercalcemia hypertrichosis hypoglycemia inguinal hernia intellectual disability intrinsic asthma learning disability lipid storage disease lung benign neoplasm lung carcinoma lysosomal storage disease major depressive disorder melancholic depression metachromatic leukodystrophy mixed sleep apnea mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis myeloproliferative neoplasm myocarditis myotonic disease myotonic dystrophy type 2 narcolepsy nephrocalcinosis nervous system disease neurotic disorder obsolete intestinal pseudo-obstruction obsolete melancholia obstructive hydrocephalus obstructive sleep apnea ocular albinism with sensorineural deafness oculocutaneous albinism omphalocele optic papillitis osteochondrodysplasia ovarian cancer ovarian carcinoma pancytopenia papilledema paralytic ileus phosphorus metabolism disease post-traumatic stress disorder ptosis retinal edema retrograde amnesia rumination disorder senile degeneration of brain sensorineural hearing loss sick sinus syndrome situs inversus sleep apnea sudden infant death syndrome trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis umbilical hernia visual epilepsy
9348	N-deacetylase and N-sulfotransferase 3	NDST3 Aliases: HSST3	Homo sapiens (human)	Balo concentric sclerosis adrenoleukodystrophy anxiety disorder autism spectrum disorder azoospermia central nervous system disease depressive disorder generalized anxiety disorder intellectual disability major depressive disorder melancholic depression narcolepsy neurotic disorder obsolete melancholia schizophrenia
266722	heparan sulfate 6-O-sulfotransferase 3	HS6ST3	Homo sapiens (human)	Balo concentric sclerosis adrenoleukodystrophy breast cancer breast carcinoma cancer central nervous system disease diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy hepatitis B narcolepsy nicotine dependence obesity type 2 diabetes mellitus

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