DisGeNET

DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.

Source Last Updated
DisGeNET July 29, 2024
Displaying entries 52951 - 52975 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▲
C1956346 Coronary Artery Disease SIRT6 51548 sirtuin 6 Q8N6T7
C0041296 Tuberculosis SIRT6 51548 sirtuin 6 Q8N6T7
C0948008 Ischemic stroke ACOT4 122970 acyl-CoA thioesterase 4 Q8N9L9
C0265221 Walker-Warburg congenital muscular dystrophy POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0017601 Glaucoma POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C3714756 Intellectual Disability POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0010964 Dandy-Walker Syndrome POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0020255 Hydrocephalus POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0266544 Microcornea POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0036572 Seizures POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C3553813 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0241005 Creatine phosphokinase serum increased POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0010417 Cryptorchidism POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0026850 Muscular Dystrophy POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0024530 Malaria POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0010038 Corneal Opacity POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0410174 Fukuyama Type Congenital Muscular Dystrophy POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0266483 Pachygyria POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0266551 Congenital coloboma of iris POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0023467 Leukemia, Myelocytic, Acute POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C1836373 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0086543 Cataract POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0686353 Muscular Dystrophies, Limb-Girdle POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0854723 Retinal Dystrophies POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1

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