GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **676 - 700** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
178	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	AGL GDE glycogen debranching enzyme glycogen storage disease type III	Duchenne muscular dystrophy Laron syndrome achondroplasia acute promyelocytic leukemia atrichia with papular lesions autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bladder carcinoma cancer cardiomyopathy colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital muscular dystrophy cystinuria disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hyperlipidemia familial partial lipodystrophy familial periodic paralysis galactosemia giardiasis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatitis C hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy liver cirrhosis lung cancer lung non-small cell carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy nodular nonsuppurative panniculitis obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy panniculitis primary immunodeficiency disease rippling muscle disease 2 uremia urinary bladder cancer
1119	choline kinase alpha	CHKA CKI	Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia 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 basal cell carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer colon adenoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma epilepsy esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy gliosarcoma hematologic cancer hepatitis B hepatocellular carcinoma high grade glioma large intestine cancer limb-girdle muscular dystrophy liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma megaconial type congenital muscular dystrophy microcephaly microphthalmia mixed glioma muscular dystrophy myelomeningocele myofibrillar myopathy 1 myofibrillar myopathy 3 neuroblastoma obsolete Matthew-Wood syndrome 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 ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma prostate cancer prostate carcinoma rippling muscle disease 2 spina bifida squamous cell carcinoma steatotic liver disease tethered spinal cord syndrome tongue squamous cell carcinoma transient cerebral ischemia vertebrobasilar insufficiency
120071	LARGE xylosyl- and glucuronyltransferase 2	LARGE2 FLJ35207 PP5656	Duchenne muscular dystrophy acute myocardial infarction 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 cancer congenital muscular dystrophy coronary thrombosis distal myopathy embryoma facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 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 prostate cancer prostate carcinoma rippling muscle disease 2 silent myocardial infarction transitional cell carcinoma
8818	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	DPM2 DPM synthase complex subunit MGC111193 MGC21559	Duchenne muscular dystrophy adult respiratory distress syndrome angle-closure glaucoma antithrombin III deficiency 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 chronic closed-angle glaucoma congenital disorder of glycosylation Iu congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy epilepsy exfoliation syndrome facioscapulohumeral muscular dystrophy glaucoma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 newborn respiratory distress syndrome 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 polyhydramnios primary angle-closure glaucoma protein C deficiency protein S deficiency rippling muscle disease 2 scoliosis thrombophilia
8813	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	DPM1 CDGIE DPM synthase complex, catalytic subunit MPDS	Duchenne muscular dystrophy antithrombin III deficiency 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 capillary disease cavernous hemangioma chorioangioma congenital disorder of glycosylation Ie congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy facioscapulohumeral muscular dystrophy glomus tumor hemangioma hereditary hemorrhagic telangiectasia histiocytoid hemangioma intramuscular hemangioma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lymphangioma microcephaly muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 nonsyndromic congenital nail disorder 9 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy patent ductus arteriosus protein C deficiency protein S deficiency rippling muscle disease 2 telangiectasis thrombophilia
124872	beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)	B4GALNT2 Cad Sda	Duchenne muscular dystrophy 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 campomelic dysplasia cancer carcinoma cerebrotendinous xanthomatosis congenital muscular dystrophy coronary artery disease distal myopathy embryoma facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 rippling muscle disease 2 sarcomatoid carcinoma
54344	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	DPM3 DPM synthase complex subunit MGC125904 MGC125905 MGC34275	Duchenne muscular dystrophy 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 cardiomyopathy clubfoot congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy-dystroglycanopathy type B15 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 rippling muscle disease 2
5298	phosphatidylinositol 4-kinase beta	PI4KB PI4K-BETA pi4K92	EAST syndrome autosomal dominant nonsyndromic deafness hepatitis C severe acute respiratory syndrome
79158	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	GNPTAB KIAA1208 MGC4170	Ebola hemorrhagic fever Fabry disease Laron syndrome Legg-Calve-Perthes disease Scheuermann's disease achondroplasia alexia anemia aortic valve insufficiency arrhythmogenic right ventricular cardiomyopathy autistic disorder cancer capillary hemangioma cardiomyopathy cavernous hemangioma chromophobe renal cell carcinoma chylomicron retention disease clear cell renal cell carcinoma clubfoot collecting duct carcinoma congenital central hypoventilation syndrome congestive heart failure corneal dystrophy craniosynostosis disease of metabolism dyslexia embryoma endomyocardial fibrosis enterocele familial hypertrophic cardiomyopathy glycoproteinosis hemangioma hypertrophic cardiomyopathy inguinal hernia intellectual disability keratosis follicularis learning disability lipid storage disease lysosomal storage disease macrocytic anemia megalocornea mixed sleep apnea mongolian spot mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucolipidosis mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis multiple epiphyseal dysplasia nonpapillary renal cell carcinoma obstructive sleep apnea omphalocele osteochondrodysplasia papillary renal cell carcinoma pseudoxanthoma elasticum renal carcinoma renal cell carcinoma retinal degeneration retinal disease retinitis sarcomatoid renal cell carcinoma scoliosis sleep apnea spinal cord disease stuttering syringomyelia umbilical hernia
6614	sialic acid binding Ig like lectin 1	SIGLEC1 CD169 FLJ00051 FLJ00055 FLJ00073 FLJ32150 SIGLEC-1 dJ1009E24.1 sialoadhesin	Ebola hemorrhagic fever Graves' disease Kaposi's sarcoma Marfan syndrome St. Louis encephalitis allergic asthma anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascariasis ascaridiasis asthma atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bladder carcinoma breast cancer breast carcinoma cancer childhood leukemia chronic fatigue syndrome colitis common cold congenital heart block coronary artery disease diabetes mellitus embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma gastroenteritis glomerulonephritis head and neck squamous cell carcinoma hepatitis B hepatitis C hyperthyroidism ileitis ileocolitis immune system disease influenza intrinsic asthma kidney disease leukemia liver cirrhosis lupus erythematosus macrocytic anemia melanoma multiple myeloma multiple sclerosis myelitis nephritis nephrosis nutmeg liver prostate cancer prostate carcinoma pulmonary tuberculosis pyoureter respiratory syncytial virus infectious disease rheumatoid arthritis scleroderma situs inversus skin melanoma steatotic liver disease systemic lupus erythematosus systemic scleroderma thyrotoxicosis tuberculosis tuberculous pneumothorax tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer viral infectious disease
339390	C-type lectin domain family 4 member G	CLEC4G LSECTIN UNQ431	Ebola hemorrhagic fever basal cell carcinoma breast cancer breast carcinoma hepatocellular carcinoma liver cancer
113189	carbohydrate sulfotransferase 14	CHST14 D4ST-1 HD4ST	Ehlers-Danlos syndrome musculocontractural type 1 Ehlers-Danlos syndrome Marfan syndrome Peters anomaly agnosia arthropathy atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect brittle cornea syndrome 1 cleft palate clubfoot congenital diaphragmatic hernia cornea plana craniosynostosis cryptorchidism developmental coordination disorder distal arthrogryposis familial nephrotic syndrome familial periodic paralysis glaucoma hiatus hernia hydrocephalus hydronephrosis hypertropia isolated cleft palate lipoid nephrosis mechanical strabismus myopathy myopia nephrotic syndrome obsolete constipation omphalocele ophthalmoplegia osteogenesis imperfecta patent foramen ovale pneumothorax prostate cancer prostate carcinoma retinal detachment scoliosis sensorineural hearing loss situs inversus strabismus tuberous sclerosis umbilical hernia
29940	dermatan sulfate epimerase	DSE DS-Epi1 DSEPI	Ehlers-Danlos syndrome musculocontractural type 2 Ehlers-Danlos syndrome atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration clubfoot craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma fibromyalgia gastroschisis heart disease hepatocellular carcinoma inguinal hernia liver cancer mitral valve insufficiency mitral valve prolapse myositis osteogenesis imperfecta patent foramen ovale postural orthostatic tachycardia syndrome type 2 diabetes mellitus
126792	beta-1,3-galactosyltransferase 6	B3GALT6 beta-1,3-galactosyltransferase-6 beta3GalT6	Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease Hirschsprung's disease Laron syndrome Rothmund-Thomson syndrome achondroplasia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB bicuspid aortic valve disease bone disease cartilage disease cherubism chondrodysplasia punctata chromophobe renal cell carcinoma clear cell renal cell carcinoma cleft palate clubfoot collagen disease collecting duct carcinoma connective tissue disease cutis laxa enophthalmos exostosis heart septal defect hepatocellular carcinoma intellectual disability isolated cleft palate isolated ectopia lentis learning disability liver cancer mal de Meleda mitral valve insufficiency mitral valve prolapse myopia nonpapillary renal cell carcinoma obsolete exophthalmos orbital disease osteogenesis imperfecta osteoporosis papillary renal cell carcinoma paraplegia patent foramen ovale periarthritis renal carcinoma renal cell carcinoma restrictive dermopathy sarcomatoid renal cell carcinoma scoliosis spinal cord disease spondyloepimetaphyseal dysplasia with joint laxity type 1 tendinitis ventricular septal defect
120227	cytochrome P450 family 2 subfamily R member 1	CYP2R1 Vitamin D 25-hydroxylase	Ehlers-Danlos syndrome Graves' disease Laron syndrome Sertoli cell-only syndrome Vogt-Koyanagi-Harada disease X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 achondroplasia acute myocardial infarction adenocarcinoma adenoma age related macular degeneration agnosia allergic asthma androgen insensitivity syndrome arteriosclerotic cardiovascular disease asthma atherosclerosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome basal cell carcinoma brain disease brain infarction calcinosis calcium metabolism disease cancer cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma degeneration of macula and posterior pole dental enamel hypoplasia dermatitis developmental coordination disorder diabetes mellitus diabetic ketoacidosis differentiated thyroid gland carcinoma embryoma endometriosis of uterus endometriosis endometritis essential hypertension eunuchism gestational diabetes goiter granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatitis C hepatocellular carcinoma hypercalcemia hypertension hyperthyroidism hypogonadism hypoparathyroidism hypophosphatemia immune system disease intrinsic asthma large intestine cancer liver cancer liver cirrhosis lung cancer lung non-small cell carcinoma macular degeneration mastitis melanoma mitral valve stenosis multiple sclerosis myocardial infarction nephrocalcinosis nonpapillary renal cell carcinoma nutmeg liver obesity obsolete type 1 diabetes mellitus 9 oligospermia osteogenesis imperfecta osteomalacia pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma phosphorus metabolism disease polycystic ovary syndrome pre-eclampsia premature menopause prostate cancer prostate carcinoma pseudohypoparathyroidism renal carcinoma renal cell carcinoma rheumatoid arthritis rickets sarcomatoid renal cell carcinoma secondary hyperparathyroidism silent myocardial infarction skin melanoma squamous cell carcinoma steatotic liver disease thyroid gland disease thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis 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 vitamin D-dependent rickets type 1B
5167	ectonucleotide pyrophosphatase/phosphodiesterase 1	ENPP1 PC-1 PCA1	Ehlers-Danlos syndrome HCL-V Laron syndrome McCune Albright syndrome X-linked dominant hypophosphatemic rickets Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne acquired hyperkeratosis acute myocardial infarction adult astrocytic tumor allergic asthma amelogenesis imperfecta anaplastic astrocytoma anemia angioid streaks ankylosing spondylitis ankylosis aortic valve disease 1 aortic valve disease 2 aortic valve disease aortic valve stenosis arterial calcification of infancy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autosomal dominant hypophosphatemic rickets autosomal recessive hypophosphatemic rickets autosomal recessive osteopetrosis 7 bicuspid aortic valve disease bile duct adenocarcinoma bile duct cancer bile duct carcinoma bile duct disease blindness bone disease brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cardiovascular system disease carotid artery disease cartilage disease cerebral infarction cerebrovascular disease childhood astrocytic tumor childhood cerebral astrocytoma cholangiocarcinoma chondrocalcinosis chronic kidney disease colorectal cancer colorectal carcinoma congenital hypothyroidism congenital toxoplasmosis congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis end stage renal disease endometriosis of ovary endometriosis of uterus endometriosis enthesopathy essential hypertension exanthem fibrillary astrocytoma gemistocytic astrocytoma gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance hairy cell leukemia heart disease hepatitis C hepatocellular carcinoma hereditary elliptocytosis herpes simplex high grade glioma hypercalcemia hypercementosis hyperglycemia hyperinsulinism hyperphosphatemic familial tumoral calcinosis hypertension hypophosphatemia hypothyroidism insulinoma intermittent claudication intrinsic asthma juvenile pilocytic astrocytoma keratosis follicularis kidney disease kidney failure large intestine cancer linear nevus sebaceous syndrome liver cancer lung benign neoplasm lung cancer lung carcinoma macrocytic anemia malignant astrocytoma melanoma mitral valve insufficiency mitral valve prolapse mongolian spot monoclonal gammopathy of uncertain significance morbid obesity mucopolysaccharidosis IV multiple epiphyseal dysplasia multiple myeloma musculoskeletal system disease myelitis myocardial infarction myopia myxedema nephritis nephrocalcinosis nephrosis neurogenic arthropathy nodular prostate nonepidermolytic palmoplantar keratoderma nutmeg liver obesity obsolete type 1 diabetes mellitus 9 ossification of the posterior longitudinal ligament of spine osteoarthritis osteochondrodysplasia osteogenesis imperfecta osteomalacia osteopetrosis osteoporosis osteosclerosis otitis media palmoplantar keratosis pancreatic cancer pancreatic carcinoma periarthritis perinatal intestinal perforation peripheral artery disease peripheral vascular disease phosphorus metabolism disease pilocytic astrocytoma plasmacytoma pneumocystosis polycystic ovary syndrome polycythemia vera polycythemia postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma pseudoxanthoma elasticum pulmonary valve stenosis pyoureter restrictive cardiomyopathy retinal disease retinitis rheumatoid arthritis rickets sarcomatoid carcinoma scoliosis sensorineural hearing loss silent myocardial infarction skin melanoma spondyloarthropathy spondylosis steatotic liver disease subependymal giant cell astrocytoma suppurative periapical periodontitis tendinitis tropical sprue tympanosclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia viral infectious disease
9060	3'-phosphoadenosine 5'-phosphosulfate synthase 2	PAPSS2 ATPSK2 PAPS synthase 2 adenosine 5'-phosphosulfate kinase bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	Ehlers-Danlos syndrome Laron syndrome Marfan syndrome achondroplasia acne anovulation arthritis arthropathy brachyolmia diabetes mellitus diastrophic dysplasia hyperandrogenism hypertrichosis intellectual disability learning disability mucopolysaccharidosis IV multiple epiphyseal dysplasia osteoarthritis osteochondrodysplasia osteogenesis imperfecta polycystic ovary syndrome scoliosis situs inversus spondyloepimetaphyseal dysplasia, Pakistani type tuberous sclerosis type 2 diabetes mellitus
8930	methyl-CpG binding domain 4, DNA glycosylase	MBD4 MED1	Evans' syndrome Hantavirus hemorrhagic fever with renal syndrome Marinesco-Sjogren syndrome abdominal aortic aneurysm achromatopsia acquired color blindness acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma aortic aneurysm autistic disorder autoimmune thrombocytopenic purpura biliary atresia bladder carcinoma blue color blindness breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma colon cancer colon carcinoma colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma cribriform carcinoma disease of metabolism embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma follicular adenoma gastrointestinal system cancer gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma microcystic adenoma mixed glioma osteomyelitis papillary adenoma primary cerebellar degeneration red color blindness red-green color blindness rheumatoid arthritis sarcomatoid carcinoma scleroderma stomach cancer stomach carcinoma systemic lupus erythematosus systemic scleroderma temporal arteritis thrombocytopenia due to platelet alloimmunization thrombocytopenia tubular adenocarcinoma urinary bladder cancer uterine corpus cancer uveal melanoma
971	CD72 molecule	CD72 CD72b LYB2	Evans' syndrome acute lymphoblastic leukemia adult acute lymphocytic leukemia arthus reaction autoimmune thrombocytopenic purpura benign mastocytoma childhood acute lymphocytic leukemia extracutaneous mastocytoma lupus erythematosus mast cell neoplasm mastocytosis scleroderma systemic lupus erythematosus systemic scleroderma thrombocytopenia due to platelet alloimmunization thrombocytopenia urticaria pigmentosa
1558	cytochrome P450 family 2 subfamily C member 8	CYP2C8 CPC8	Ewing sarcoma Plasmodium falciparum malaria acute lymphoblastic leukemia acute myocardial infarction agranulocytosis allergic asthma alternating hemiplegia of childhood anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis autonomic neuropathy bacterial sepsis breast cancer breast carcinoma cancer central nervous system disease cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia chronic kidney disease chronic myeloid leukemia coronary artery disease coronary thrombosis diabetes mellitus embryoma end stage renal disease essential hypertension essential tremor gastrointestinal stromal tumor glomerulonephritis gout hepatocellular carcinoma hypertension hypoglycemia intrinsic asthma kidney disease leukopenia liver cancer lung cancer lung non-small cell carcinoma lymphoblastic lymphoma macrocytic anemia malaria middle cerebral artery infarction multiple myeloma myocardial infarction nephritis nephrosis nervous system disease neuropathy neutropenia nutmeg liver osteonecrosis ovarian cancer ovarian carcinoma peptic ulcer disease peripheral nervous system disease polyneuropathy prostate cancer prostate carcinoma pseudosarcomatous fibromatosis pyoureter renal hypertension severe congenital neutropenia silent myocardial infarction squamous cell carcinoma sudden infant death syndrome thrombocytopenia tongue squamous cell carcinoma type 2 diabetes mellitus
57124	CD248 molecule	CD248 TEM1 endosialin tumor endothelial marker 1	Ewing sarcoma anaplastic astrocytoma arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bone osteosarcoma brain cancer cancer carcinoma childhood cerebral astrocytoma childhood osteosarcoma chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease diarrhea disease of metabolism embryoma epithelioid sarcoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease influenza juvenile pilocytic astrocytoma large intestine cancer liver cancer liver cirrhosis lung small cell carcinoma malignant astrocytoma melanoma meningitis neuroblastoma obesity osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pilocytic astrocytoma pneumonia protoplasmic astrocytoma psoriatic arthritis rheumatoid arthritis sarcoma sarcomatoid carcinoma scleroderma shigellosis skin benign neoplasm skin cancer skin melanoma spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic scleroderma thrombotic thrombocytopenic purpura tongue squamous cell carcinoma urinary tract obstruction
2717	galactosidase alpha	GLA GALA	Fabry disease Gaucher's disease Goodpasture syndrome Horner's syndrome Laron syndrome Meckel syndrome Moyamoya disease Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Riley-Day syndrome Takayasu's arteritis X-linked agammaglobulinemia Zollinger-Ellison syndrome achondroplasia acquired hyperkeratosis acute myocardial infarction allergic asthma anemia angiokeratoma anhidrosis antithrombin III deficiency anxiety disorder arthritis arthropathy asthma atrial fibrillation atrioventricular block autosomal dominant polycystic kidney disease bacterial vaginosis breast cancer breast fibrocystic disease brucellosis cancer cardiomyopathy cardiovascular system disease cataract central nervous system origin vertigo cerebral infarction cerebrovascular disease chronic kidney disease chronic obstructive pulmonary disease chylomicron retention disease congenital hypogammaglobulinemia congestive heart failure corneal dystrophy coronary thrombosis cystinuria depressive disorder diabetes insipidus diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism dysthymic disorder elephantiasis endomyocardial fibrosis epilepsy erythromelalgia essential hypertension familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial nephrotic syndrome fibromyalgia galactosemia generalized anxiety disorder glaucoma glomerulonephritis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granulomatosis with polyangiitis heart disease hyperinsulinism hypertension hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypohidrosis influenza inherited metabolic disorder interstitial nephritis intrinsic asthma keratosis follicularis kidney disease kidney failure late onset Parkinson's disease lipid storage disease lipoid nephrosis lung disease lymphedema lysosomal storage disease macrocytic anemia major depressive disorder melancholic depression mevalonic aciduria microglandular adenosis mitral valve insufficiency mitral valve prolapse mongolian spot multiple sclerosis myocardial infarction myositis nephritis nephrosis nephrotic syndrome neurohypophyseal diabetes insipidus neuropathy neurotic disorder obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive lung disease optic atrophy osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease pneumonia polyarteritis nodosa polyneuropathy priapism protein C deficiency protein S deficiency proteinuria pseudoxanthoma elasticum pyelitis pyelonephritis pyoureter recurrent corneal erosion renal infectious disease sensorineural hearing loss sick sinus syndrome silent myocardial infarction sphingolipidosis thrombophilia thyroid gland papillary carcinoma transient cerebral ischemia tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia vaginitis vascular disease vertebrobasilar insufficiency visual epilepsy vitamin K deficiency bleeding vulvitis vulvovaginal candidiasis vulvovaginitis
2538	glucose-6-phosphatase catalytic subunit 1	G6PC1 GSD1a glycogen storage disease type I, von Gierke disease	Fabry disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Laron syndrome Zollinger-Ellison syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis anemia blood coagulation disease bone marrow cancer breast cancer cancer carcinoma chromophobe renal cell carcinoma chronic kidney disease chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma cystinuria diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma epilepsy essential hypertension eyelid disease familial hyperlipidemia familial periodic paralysis focal segmental glomerulosclerosis follicular adenoma galactosemia gallbladder disease gastrointestinal system disease gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance glucose metabolism disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease VIII glycogen storage disease gout hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertension hyperuricemia hypoglycemia insulinoma intestinal disease kidney disease kidney failure kwashiorkor lactic acidosis leukopenia lipid storage disease liver cancer liver disease macrocytic anemia marasmus methemoglobinemia microcystic adenoma myeloproliferative neoplasm myopathy nephritis nephrolithiasis nephrosis neuroblastoma neutropenia nonpapillary renal cell carcinoma nutrition disease obesity obsolete type 1 diabetes mellitus 9 osteoporosis ovarian cancer ovarian carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma placental insufficiency polycystic ovary syndrome prediabetes syndrome protein-energy malnutrition proteinuria pyoureter renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma severe congenital neutropenia steatotic liver disease sudden infant death syndrome sulfhemoglobinemia type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia uric acid nephrolithiasis uterine corpus cancer visual epilepsy xanthomatosis
84572	N-acetylglucosamine-1-phosphate transferase subunit gamma	GNPTG CAB56184 GlcNAc-phosphotransferase gamma-subunit c316G12.3	Fabry disease Laron syndrome achondroplasia alexia aortic valve disease 2 aortic valve insufficiency aortic valve stenosis chylomicron retention disease cone-rod dystrophy dyslexia fundus albipunctatus glycoproteinosis lipid storage disease lysosomal storage disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucolipidosis III gamma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myopia osteochondrodysplasia retinitis pigmentosa scoliosis stuttering
79153	glycerophosphodiester phosphodiesterase domain containing 3	GDPD3 MGC4171	Fabry disease Wolman disease chylomicron retention disease lipid storage disease

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