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 9901 - 9925 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▼ UniProt ID
C0338502 Hypoplasia of the optic nerve POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0026010 Microphthalmos POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C3809221 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0270790 Quadriparesis POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0266544 Microcornea POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0008925 Cleft Palate POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0231528 Myalgia POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0029124 Optic Atrophy POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C1869123 Limb-girdle muscular dystrophy type 2A POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0015393 Eye Abnormalities POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0010038 Corneal Opacity POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0344530 Congenital keratoglobus POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0575158 Kyphoscoliosis deformity of spine POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0456909 Blindness POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0010964 Dandy-Walker Syndrome POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0008924 Cleft upper lip POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0035305 Retinal Detachment POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C4015184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0009363 Congenital ocular coloboma (disorder) POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0026848 Myopathy POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0015469 Facial paralysis POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0079541 Holoprosencephaly POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C1384666 hearing impairment POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C1879312 Agyria POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0751951 Central Core Myopathy (disorder) POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1

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Last updated: August 19, 2024