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 60926 - 60950 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Gene Name UniProt ID
C0086543 Cataract POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0025958 Microcephaly POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C3665347 Visual Impairment POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0546264 Congenital Fiber Type Disproportion POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0878544 Cardiomyopathies POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0266483 Pachygyria POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0241005 Creatine phosphokinase serum increased POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0235991 Small for gestational age (disorder) POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0017601 Glaucoma POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0344559 Irido-corneo-trabecular dysgenesis (disorder) POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C2875316 Myotubular (centronuclear) myopathy POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0521694 Atrophic retina POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0020302 Hydrophthalmos POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0037822 Speech Disorders POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0079924 Oligohydramnios POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C1261470 Congenital meningocele POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0000768 Congenital Abnormality POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0270962 Multi-core congenital myopathy POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
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

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Last updated: August 19, 2024