eDGAR: 280000 disease page
Disease table of COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME OMIM ID: 280000
Gene-disease associations table
Gene | Associated with COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
PIGL | ClinVar, OMIM, HUMSAVAR | HGNC link | 17p11.2 | 1 | 280000 |
Download the disease annotation in CSV format