Gene | Associated with DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
GJB2 | ClinVar, OMIM, HUMSAVAR | HGNC link | 13q12.11 | 7 | 124500, PS220290, 148210, PS124900, 602540, 148350, 149200 |