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 9801 - 9825 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▼ UniProt ID
C0036857 Severe intellectual disability POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0010964 Dandy-Walker Syndrome POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0265221 Walker-Warburg congenital muscular dystrophy POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1836373 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1861922 CAMPOMELIC DYSPLASIA POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C3665347 Visual Impairment POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0026850 Muscular Dystrophy POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0020302 Hydrophthalmos POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0000768 Congenital Abnormality POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0410174 Fukuyama Type Congenital Muscular Dystrophy POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0025362 Mental Retardation POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0020255 Hydrocephalus POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0456909 Blindness POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0007193 Cardiomyopathy, Dilated POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0521694 Atrophic retina POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0027092 Myopia POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0003466 Anus, Imperforate POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0266551 Congenital coloboma of iris POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0022679 Cystic kidney POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0029124 Optic Atrophy POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1261470 Congenital meningocele POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0338502 Hypoplasia of the optic nerve POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0038379 Strabismus POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C3536714 Renal dysplasia POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0026010 Microphthalmos POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4

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Last updated: August 19, 2024