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 52776 - 52800 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▲ UniProt ID
C0035305 Retinal Detachment POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0026010 Microphthalmos POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C1531647 Cerebral ventriculomegaly POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C1836373 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K POMK 84197 protein O-mannose kinase Q9H5K3
C4015184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 POMK 84197 protein O-mannose kinase Q9H5K3
C0699743 Congenital muscular dystrophy (disorder) POMK 84197 protein O-mannose kinase Q9H5K3
C0026850 Muscular Dystrophy POMK 84197 protein O-mannose kinase Q9H5K3
C0010964 Dandy-Walker Syndrome POMK 84197 protein O-mannose kinase Q9H5K3
C0266551 Congenital coloboma of iris POMK 84197 protein O-mannose kinase Q9H5K3
C0038379 Strabismus POMK 84197 protein O-mannose kinase Q9H5K3
C0029124 Optic Atrophy POMK 84197 protein O-mannose kinase Q9H5K3
C3808964 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 POMK 84197 protein O-mannose kinase Q9H5K3
C0878544 Cardiomyopathies POMK 84197 protein O-mannose kinase Q9H5K3
C0009363 Congenital ocular coloboma (disorder) POMK 84197 protein O-mannose kinase Q9H5K3
C0020256 Congenital Hydrocephalus POMK 84197 protein O-mannose kinase Q9H5K3
C0265221 Walker-Warburg congenital muscular dystrophy POMK 84197 protein O-mannose kinase Q9H5K3
C0266483 Pachygyria POMK 84197 protein O-mannose kinase Q9H5K3
C0020255 Hydrocephalus POMK 84197 protein O-mannose kinase Q9H5K3
C0344530 Congenital keratoglobus POMK 84197 protein O-mannose kinase Q9H5K3
C0025958 Microcephaly POMK 84197 protein O-mannose kinase Q9H5K3
C0036439 Scoliosis, unspecified POMK 84197 protein O-mannose kinase Q9H5K3
C0010417 Cryptorchidism POMK 84197 protein O-mannose kinase Q9H5K3
C0036572 Seizures POMK 84197 protein O-mannose kinase Q9H5K3
C0686353 Muscular Dystrophies, Limb-Girdle POMK 84197 protein O-mannose kinase Q9H5K3
C0241005 Creatine phosphokinase serum increased POMK 84197 protein O-mannose kinase Q9H5K3

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Last updated: August 19, 2024