GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **701 - 725** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
51172	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	NAGPA APAA UCE	Fabry disease alexia chylomicron retention disease dyslexia glycoproteinosis lipid storage disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucopolysaccharidosis III mucopolysaccharidosis type IIIB neurodegenerative disease stuttering
4126	mannosidase beta	MANBA beta-mannosidase A	Fabry disease allergic asthma allergic disease alternating hemiplegia of childhood angiokeratoma ascending cholangitis asthma attention deficit hyperactivity disorder autonomic neuropathy beta-mannosidosis central nervous system disease cholangitis chronic kidney disease chylomicron retention disease colorectal cancer colorectal carcinoma complement deficiency congenital nystagmus dissociated nystagmus epilepsy intellectual disability intrinsic asthma large intestine cancer learning disability lipid storage disease lysosomal storage disease multiple sclerosis nervous system disease obsolete constipation pathologic nystagmus primary biliary cholangitis primary sclerosing cholangitis sarcoidosis sclerosing cholangitis sensorineural hearing loss speech disorder spontaneous ocular nystagmus suppurative cholangitis uveoparotid fever visual epilepsy
310	annexin A7	ANXA7	Fanconi anemia complementation group A Fanconi anemia Richter's syndrome acute myocardial infarction adenocarcinoma adenoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood leukemia chronic lymphocytic leukemia colon adenocarcinoma colorectal cancer colorectal carcinoma coronary thrombosis craniosynostosis cribriform carcinoma embryoma esophageal cancer esophageal carcinoma gastric adenocarcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma large intestine cancer leukemia liver cancer liver carcinoma malaria melanoma mixed glioma myocardial infarction nasopharynx carcinoma nodular prostate non-Hodgkin lymphoma ovarian cancer prostate cancer prostate carcinoma prostatic adenoma silent myocardial infarction skin cancer skin melanoma stomach cancer stomach carcinoma tubular adenocarcinoma
79071	ELOVL fatty acid elongase 6	ELOVL6 FLJ23378 LCE MGC5487	Fanconi anemia complementation group A Fanconi anemia Zollinger-Ellison syndrome accommodative esotropia acrodermatitis acute myeloid leukemia acute myocardial infarction allergic contact dermatitis amnestic disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis azoospermia bronchus cancer bronchus carcinoma cancer cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis dermatitis diabetes mellitus disease of metabolism dissociative amnesia fundus albipunctatus hepatocellular carcinoma hyperinsulinism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma myocardial infarction nodular prostate obesity parapsoriasis postinflammatory pulmonary fibrosis prostatic adenoma psoriasis psoriatic arthritis pulmonary fibrosis pustulosis of palm and sole retinitis pigmentosa silent myocardial infarction steatotic liver disease type 2 diabetes mellitus
4199	malic enzyme 1	ME1 NADP-dependent malic enzyme malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))	Fanconi anemia complementation group A Fanconi anemia adenocarcinoma adenoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cerebral infarction cerebrovascular disease cholangiocarcinoma clear cell renal cell carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure cribriform carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma epilepsy focal epilepsy giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma kidney cancer kidney failure large cell carcinoma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma major depressive disorder malignant teratoma mature teratoma melancholic depression mixed glioma neurotic disorder obesity obsolete melancholia partial motor epilepsy renal carcinoma renal cell carcinoma squamous cell carcinoma teratoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus sarcoma visual epilepsy
55247	nei like DNA glycosylase 3	NEIL3 FLJ10858 FPG2 ZGRF3 hFPG2 hNEI3 zinc finger, GRF-type containing 3	Fanconi anemia acute myocardial infarction basal cell carcinoma cancer coronary thrombosis differentiated thyroid gland carcinoma embryoma giant cell glioblastoma glioblastoma glomerulonephritis hepatocellular carcinoma kidney disease liver cancer myocardial infarction nephritis silent myocardial infarction
10555	1-acylglycerol-3-phosphate O-acyltransferase 2	AGPAT2 1-acyl-sn-glycerol-3-phosphate acyltransferase beta LPAAT-beta LPLAT2 lysophosphatidic acid acyltransferase-beta lysophospholipid acyltransferase 2	Fanconi syndrome Zollinger-Ellison syndrome acanthosis nigricans acute myocardial infarction acute pancreatitis acute promyelocytic leukemia aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation atrichia with papular lesions bone osteosarcoma bulimia nervosa cancer cardiomyopathy childhood osteosarcoma chronic myeloid leukemia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congestive heart failure coronary artery disease coronary thrombosis cystinosis diabetes mellitus diabetic ketoacidosis embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis familial hypertrophic cardiomyopathy familial partial lipodystrophy familial periodic paralysis glomerulonephritis hydrocephalus hyperinsulinism hypertrichosis hypertrophic cardiomyopathy intellectual disability isolated growth hormone deficiency kidney disease kidney failure learning disability lipoatrophic diabetes mellitus lipodystrophy myocardial infarction myopathy neonatal diabetes nephritis nephrolithiasis nephrosis neuropathy obesity omphalocele osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatitis peripheral nervous system disease polycystic ovary syndrome primary immunodeficiency disease primary pulmonary hypertension pyloric stenosis pyoureter scoliosis silent myocardial infarction steatotic liver disease transient neonatal diabetes mellitus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome type 2 diabetes mellitus umbilical hernia uric acid nephrolithiasis uterine corpus cancer
8875	vanin 2	VNN2 FOAP-4 GPI-80 pantetheinase	Fanconi syndrome atopic dermatitis bone osteosarcoma cancer cystinosis disease of metabolism embryoma giant cell glioblastoma glioblastoma high grade glioma malaria osteosarcoma parapsoriasis psoriasis pustulosis of palm and sole spondyloepimetaphyseal dysplasia, Sponastrime type
5660	prosaposin	PSAP saposin-A saposin-B saposin-C saposin-D variant Gaucher disease and variant metachromatic leukodystrophy	Farber lipogranulomatosis Gaucher's disease type I Gaucher's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Krabbe disease Marfan syndrome Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Unverricht-Lundborg syndrome X-linked nonsyndromic deafness acquired immunodeficiency syndrome adult fibrosarcoma agnosia allergic asthma amnestic disorder amyotrophic lateral sclerosis anemia aortic valve disease 2 aortic valve stenosis asthma atypical Gaucher's disease due to saposin c deficiency autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness bacterial sepsis blepharospasm breast cancer breast carcinoma cancer candidiasis central nervous system cancer central sleep apnea cholecystitis choreatic disease colitis combined saposin deficiency critical illness polyneuropathy cutaneous candidiasis dementia dental caries dentin caries denture stomatitis depressive disorder dysthymic disorder dystonia early myoclonic encephalopathy embryoma epilepsy fascioliasis fibrosarcoma focal hand dystonia frontotemporal dementia gallbladder cancer gallbladder carcinoma gastroenteritis giant cell glioblastoma glioblastoma gliosarcoma hepatitis B hepatitis E hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease ileitis ileocolitis inflammatory and toxic neuropathy inflammatory bowel disease late onset Parkinson's disease leukodystrophy lingual-facial-buccal dyskinesia lipid storage disease liver cancer lysosomal storage disease macrocytic anemia major depressive disorder malaria melancholic depression meningoencephalitis metachromatic leukodystrophy mixed glioma movement disease multiple myeloma neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neuropathy neurotic disorder obsolete autosomal recessive nonsyndromic deafness 105 obsolete melancholia optic atrophy oral candidiasis ovarian cancer ovarian carcinoma panic disorder paraplegia parapsoriasis peripheral nervous system disease phobic disorder plasma cell neoplasm polyneuropathy progressive multifocal leukoencephalopathy progressive muscular atrophy prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole retrograde amnesia schizophrenia situs inversus social phobia sphingolipidosis stomach cancer stomach carcinoma stomatitis syndromic X-linked intellectual disability type 10 thrombocytopenia tuberous sclerosis ulcerative stomatitis visual epilepsy vulvovaginal candidiasis vulvovaginitis
189	alanine--glyoxylate aminotransferase	AGXT AGT AGT1 AGXT1 L-alanine: glyoxylate aminotransferase 1 PH1 SPT Ser-PyrAT TLH6 glycolicaciduria oxalosis I primary hyperoxaluria type 1	Foster-Kennedy syndrome Laurin-Sandrow syndrome Raynaud disease Senior-Loken syndrome acrodermatitis allergic asthma allergic rhinitis alopecia androgenic alopecia anemia angioedema arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrioventricular block autosomal recessive osteopetrosis 7 beriberi calcinosis calcium metabolism disease cancer carcinoma cerebral infarction cerebrovascular disease chronic kidney disease coronary artery disease cystinuria dermatitis disease of metabolism distal arthrogryposis eosinophilic esophagitis essential hypertension extraosseous Ewing sarcoma extraosseous Ewings sarcoma-primitive neuroepithelial tumor galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease hepatocellular carcinoma hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory neuropathy high grade glioma hypercalcemia hypertension inherited metabolic disorder intermittent claudication intrinsic asthma kidney failure lactic acidosis liver cancer macrocytic anemia middle cerebral artery infarction nephrocalcinosis nephrolithiasis nephronophthisis neuropathy optic atrophy optic nerve disease osteopetrosis osteosclerosis parasitic helminthiasis infectious disease peripheral nervous system disease peripheral vascular disease phosphorus metabolism disease primary hyperoxaluria type 1 primary hyperoxaluria retinal disease retinitis riboflavin deficiency sarcomatoid carcinoma sensory peripheral neuropathy skin disease subacute bacterial endocarditis thiamine deficiency disease uremia uric acid nephrolithiasis urinary tract obstruction urticaria vasomotor rhinitis visual pathway disease
8395	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	PIP5K1B MSS4 STM7	Friedreich ataxia 1 Friedreich ataxia allergic asthma asthma cancer chronic kidney disease diabetes mellitus diabetic ketoacidosis embryoma intrinsic asthma osteoporosis pancreatic cancer pancreatic carcinoma type 2 diabetes mellitus
135228	CD109 molecule	CD109 CPAMD7 DKFZp762L1111 FLJ38569	Fukuyama congenital muscular dystrophy Marfan syndrome X-linked nonsyndromic deafness acrodermatitis adenocarcinoma adenoma adult epithelioid sarcoma amyloidosis autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness blindness bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral palsy cervical squamous cell carcinoma childhood epithelioid sarcoma childhood osteosarcoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma dermatitis diffuse large B-cell lymphoma embryoma endometrial adenocarcinoma epithelioid sarcoma familial periodic paralysis gallbladder squamous cell carcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hematologic cancer hemiplegia hepatocellular carcinoma high grade glioma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma mixed glioma multiple endocrine neoplasia type 1 myopathy obsolete autosomal recessive nonsyndromic deafness 105 osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma penis squamous cell carcinoma prostate cancer prostate carcinoma rheumatoid arthritis sarcoma sarcomatoid carcinoma situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell sarcoma squamous cell carcinoma tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma
284004	hexosaminidase D	HEXD FLJ23825 hexosaminidase D, cytosolic	GM2 gangliosidosis Gilles de la Tourette syndrome Marfan syndrome Sandhoff disease Tay-Sachs disease Timothy syndrome dystonia lingual-facial-buccal dyskinesia long QT syndrome 8 situs inversus tricuspid valve stenosis tuberous sclerosis 1 tuberous sclerosis
3073	hexosaminidase subunit alpha	HEXA GM2 gangliosidosis Tay Sachs disease beta-hexosaminidase subunit alpha	GM2 gangliosidosis, AB variant GM2 gangliosidosis Gaucher's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Sandhoff disease Tay-Sachs disease Werdnig-Hoffmann disease acquired immunodeficiency syndrome adult lymphoma amyotrophic lateral sclerosis blindness cancer central nervous system cancer central nervous system lymphoma childhood lymphoma childhood spinal muscular atrophy cystic fibrosis dementia diffuse scleroderma embryoma epilepsy gangliosidosis gliosarcoma glycoproteinosis high grade glioma human immunodeficiency virus infectious disease inherited metabolic disorder intellectual disability juvenile spinal muscular atrophy learning disability lingual-facial-buccal dyskinesia lymphoma lysosomal storage disease mixed glioma movement disease mucolipidosis type IV neurodegenerative disease obesity obsolete ymphosarcoma progressive muscular atrophy rheumatoid arthritis sensorineural hearing loss sickle cell anemia spinal muscular atrophy visual epilepsy
3074	hexosaminidase subunit beta	HEXB beta-hexosaminidase subunit beta	GM2 gangliosidosis, AB variant GM2 gangliosidosis HCL-V Sandhoff disease Schimke immuno-osseous dysplasia Tay-Sachs disease Unverricht-Lundborg syndrome acquired immunodeficiency syndrome acute kidney failure allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anhidrosis anterior horn cell disease asthma autosomal recessive distal hereditary motor neuronopathy 1 blindness central nervous system cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital nystagmus dissociated nystagmus early myoclonic encephalopathy epilepsy gangliosidosis gliosarcoma hairy cell leukemia high grade glioma human immunodeficiency virus infectious disease hypohidrosis impotence inherited metabolic disorder intrinsic asthma kidney disease large intestine cancer lateral sclerosis liver cirrhosis lysosomal storage disease mixed glioma motor neuron disease multiple system atrophy neurodegenerative disease pathologic nystagmus postural orthostatic tachycardia syndrome premature ejaculation psychologic dyspareunia retinal disease retinitis rheumatoid arthritis spinal muscular atrophy spontaneous ocular nystagmus visual epilepsy
57733	glucosylceramidase beta 3 (gene/pseudogene)	GBA3 CBGL1 GLUC KLrP cytosolic β-glucosidase-like protein-1 klotho-related protein	Gaucher's disease type I Gaucher's disease Goodpasture syndrome Takayasu's arteritis West Nile fever allergic asthma asthma cancer cystic fibrosis diabetic ketoacidosis granulomatosis with polyangiitis hepatocellular carcinoma kidney disease liver cancer obsolete type 1 diabetes mellitus 9 polyarteritis nodosa stomach cancer stomach carcinoma substance abuse substance-related disorder 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
912	CD1d molecule	CD1D	Gaucher's disease HCL-V Kaposi's sarcoma Richter's syndrome X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 abdominal aortic aneurysm actinic keratosis acute lymphoblastic leukemia adrenoleukodystrophy adult lymphoma adult medulloblastoma allergic asthma allergic contact dermatitis alternating hemiplegia of childhood antiphospholipid syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome autonomic neuropathy bacterial infectious disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma celiac disease central nervous system disease central nervous system lymphoma childhood leukemia childhood lymphoma childhood medulloblastoma choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic lymphocytic leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma common variable immunodeficiency coronary artery disease cystic fibrosis demyelinating disease dengue hemorrhagic fever diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis eosinophilic esophagitis epithelioid sarcoma gallbladder disease gastroenteritis granular corneal dystrophy 2 hairy cell leukemia hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hypereosinophilic syndrome ileitis ileocolitis immune system disease inflammatory bowel disease intrinsic asthma lepromatous leprosy leukemia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoma lysosomal storage disease malaria medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma mitral valve stenosis mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple myeloma multiple sclerosis myelitis nervous system disease neuroblastoma neuropathy nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancytopenia papillary renal cell carcinoma parapsoriasis paroxysmal nocturnal hemoglobinuria pemphigus periodontitis peripheral T-cell lymphoma peripheral nervous system disease placenta cancer primary biliary cholangitis prostate cancer prostate carcinoma psoriasis pulmonary tuberculosis pustulosis of palm and sole renal carcinoma renal cell carcinoma rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma seborrheic keratosis skin disease skin melanoma spindle cell sarcoma steatotic liver disease stomach cancer stomach carcinoma systemic lupus erythematosus systemic scleroderma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland 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 urinary schistosomiasis vasculitis viral infectious disease
4121	mannosidase alpha class 1A member 1	MAN1A1	Gaucher's disease acquired immunodeficiency syndrome breast cancer cancer congenital disorder of glycosylation Ih congenital disorder of glycosylation type I congenital disorder of glycosylation diabetes mellitus human immunodeficiency virus infectious disease ovarian cancer ovarian carcinoma type 2 diabetes mellitus
5313	pyruvate kinase L/R	PKLR	Gaucher's disease acquired polycythemia anemia breast cancer breast carcinoma cancer cholecystitis cholecystolithiasis choledocholithiasis cholelithiasis colorectal cancer colorectal carcinoma congenital hemolytic anemia congenital nonspherocytic hemolytic anemia depressive disorder diabetes mellitus diabetic ketoacidosis disease of metabolism episodic kinesigenic dyskinesia 1 erythropoietin polycythemia familial erythrocytosis 1 familial erythrocytosis 2 favism gallbladder cancer gallbladder carcinoma hematopoietic system disease hemoglobinopathy hemolytic anemia hepatocellular carcinoma hereditary elliptocytosis hereditary sensory neuropathy type 4 hereditary sensory neuropathy hyperglycemia large intestine cancer liver cancer lung benign neoplasm macrocytic anemia major depressive disorder malaria melancholic depression metabolic dysfunction-associated steatotic liver disease obsolete melancholia optic atrophy 1 optic atrophy pancreatic cancer pancreatic carcinoma polycythemia vera polycythemia primary polycythemia prostate cancer prostate carcinoma pyruvate kinase deficiency of red cells sensory peripheral neuropathy stress polycythemia thalassemia type 2 diabetes mellitus
2992	glycogenin 1	GYG1 glycogenin glucosyltransferase	Gerstmann-Straussler-Scheinker syndrome Gorham's disease Lafora disease cardiomyopathy 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 origin vertigo coronary artery disease cystinuria diabetes mellitus disease of metabolism endomyocardial fibrosis familial periodic paralysis galactosemia 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 XV glycogen storage disease hypertrophic cardiomyopathy myopathy sick sinus syndrome type 2 diabetes mellitus
2542	solute carrier family 37 member 4	SLC37A4 G6PT GSD1b GSD1c GSD1d Glucose-6-phosphate exchanger SLC37A4 SPX4 glucose-6-phosphatase transporter sugar-phosphate exchange protein 4	Gerstmann-Straussler-Scheinker syndrome Gorham's disease Laron syndrome achondroplasia acute pancreatitis agranulocytosis aphthous stomatitis autoimmune disease autoimmune lymphoproliferative syndrome brain cancer cancer central nervous system cancer congenital disorder of glycosylation type II cystinuria diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma essential hypertension eyelid disease familial hyperlipidemia focal segmental glomerulosclerosis galactosemia giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease Ib glycogen storage disease Ic glycogen storage disease gout hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperuricemia hypoglycemia immune system disease inherited metabolic disorder kidney disease kidney failure kwashiorkor lactic acidosis leukopenia liver cancer marasmus mixed glioma nephritis nephrolithiasis nephrosis neutropenia nutrition disease obesity obsolete type 1 diabetes mellitus 9 osteoporosis pancreatitis polycystic ovary syndrome primary pulmonary hypertension protein-energy malnutrition proteinuria pyoureter severe congenital neutropenia sudden infant death syndrome 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 uric acid nephrolithiasis xanthomatosis
5836	glycogen phosphorylase L	PYGL GSD6 Hers disease glycogen phosphorylase, liver form glycogen storage disease type VI	Gerstmann-Straussler-Scheinker syndrome Gorham's disease Laron syndrome achondroplasia cystinuria galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease III glycogen storage disease IV glycogen storage disease Ia glycogen storage disease V glycogen storage disease VI glycogen storage disease VII glycogen storage disease hepatocellular carcinoma hypoglycemia lactic acidosis liver cancer
5837	glycogen phosphorylase, muscle associated	PYGM GSD5 McArdle syndrome glycogen phosphorylase, muscle form glycogen storage disease type V myophosphorylase	Gerstmann-Straussler-Scheinker syndrome Gorham's disease Peutz-Jeghers syndrome X-linked myopathy with excessive autophagy 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 bacterial sepsis breast cancer breast carcinoma cancer carcinoma cholestasis coronary artery disease cystinuria disease of metabolism distal myopathy facioscapulohumeral muscular dystrophy familial adenomatous polyposis familial periodic paralysis galactosemia gastrinoma glucosephosphate dehydrogenase deficiency 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 V glycogen storage disease VI glycogen storage disease VII glycogen storage disease gout head and neck squamous cell carcinoma insulinoma invasive lobular carcinoma islet cell tumor isolated elevated serum creatine phosphokinase levels kidney failure limb-girdle muscular dystrophy lipoma melanoma multiple endocrine neoplasia type 1 multiple symmetric lipomatosis muscular dystrophy myoglobinuria 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 oculopharyngeal muscular dystrophy pleomorphic lipoma pre-eclampsia pseudosarcomatous fibromatosis sarcomatoid carcinoma skin melanoma vitelliform macular dystrophy von Hippel-Lindau disease
6718	aldo-keto reductase family 1 member D1	AKR1D1 delta 4-3-ketosteroid-5-beta-reductase	Gilbert syndrome Marfan syndrome Wilson disease acute myocardial infarction bilirubin metabolic disorder blood coagulation disease cholestasis congenital bile acid synthesis defect 2 congenital bile acid synthesis defect coronary thrombosis diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism gallbladder disease hemochromatosis type 1 hemochromatosis hepatitis A hepatitis intrahepatic cholestasis iron metabolism disease liver disease myocardial infarction obsolete inherited blood coagulation disease osteoporosis rheumatoid arthritis silent myocardial infarction situs inversus steatotic liver disease tropical sprue tuberous sclerosis type 2 diabetes mellitus
80270	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	HSD3B7 C(27)-3BETA-HSD SDR11E3 short chain dehydrogenase/reductase family 11E, member 3	Gilbert syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease bilirubin metabolic disorder blood coagulation disease cancer cholestasis congenital bile acid synthesis defect 1 congenital bile acid synthesis defect congenital stationary night blindness 1A congenital stationary night blindness diarrhea gallbladder disease giant cell glioblastoma glioblastoma high grade glioma intrahepatic cholestasis liver disease neuropathy night blindness obsolete inherited blood coagulation disease obsolete steatorrhea osteomalacia osteoporosis peripheral nervous system disease progressive familial intrahepatic cholestasis 1 progressive familial intrahepatic cholestasis 4 progressive familial intrahepatic cholestasis rickets tropical sprue

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