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 52801 - 52825 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▲ UniProt ID
C0854723 Retinal Dystrophies POMK 84197 protein O-mannose kinase Q9H5K3
C0010038 Corneal Opacity POMK 84197 protein O-mannose kinase Q9H5K3
C3714756 Intellectual Disability POMK 84197 protein O-mannose kinase Q9H5K3
C0266544 Microcornea POMK 84197 protein O-mannose kinase Q9H5K3
C0035305 Retinal Detachment POMK 84197 protein O-mannose kinase Q9H5K3
C0149925 Small cell carcinoma of lung POMK 84197 protein O-mannose kinase Q9H5K3
C0027092 Myopia POMK 84197 protein O-mannose kinase Q9H5K3
C0520947 Clumsiness - motor delay POMK 84197 protein O-mannose kinase Q9H5K3
C0017601 Glaucoma POMK 84197 protein O-mannose kinase Q9H5K3
C0086543 Cataract POMK 84197 protein O-mannose kinase Q9H5K3
C0338502 Hypoplasia of the optic nerve POMK 84197 protein O-mannose kinase Q9H5K3
C0026010 Microphthalmos POMK 84197 protein O-mannose kinase Q9H5K3
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 POMK 84197 protein O-mannose kinase Q9H5K3
C0035304 Retinal Degeneration POMK 84197 protein O-mannose kinase Q9H5K3
C0456909 Blindness POMK 84197 protein O-mannose kinase Q9H5K3
C0410174 Fukuyama Type Congenital Muscular Dystrophy POMK 84197 protein O-mannose kinase Q9H5K3
C3150415 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0265221 Walker-Warburg congenital muscular dystrophy POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0038379 Strabismus POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0686353 Muscular Dystrophies, Limb-Girdle POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0699743 Congenital muscular dystrophy (disorder) POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0006118 Brain Neoplasms POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C3714756 Intellectual Disability POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0520947 Clumsiness - motor delay POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C1836373 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1

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Last updated: August 19, 2024