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 52926 - 52950 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▲ UniProt ID
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
C0026848 Myopathy POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1306459 Primary malignant neoplasm POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0008925 Cleft Palate POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1879312 Agyria POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0520947 Clumsiness - motor delay POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0009363 Congenital ocular coloboma (disorder) POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0037822 Speech Disorders POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0241005 Creatine phosphokinase serum increased POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0008924 Cleft upper lip POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0015469 Facial paralysis POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0344530 Congenital keratoglobus POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0035334 Retinitis Pigmentosa POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0010038 Corneal Opacity POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0010417 Cryptorchidism POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0079541 Holoprosencephaly POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0036439 Scoliosis, unspecified POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0036572 Seizures POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0035305 Retinal Detachment POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0344559 Irido-corneo-trabecular dysgenesis (disorder) POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0266483 Pachygyria POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0086543 Cataract POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4

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Last updated: August 19, 2024