Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.110 GeneticVariation BEFREE Twenty-two patients with DEB and ACC were included among the 123 patients with DEB whose COL7A1 mutations have been identified in the Reference Centre in Nice. 24252097

2014