Disease: Aplasia Cutis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.010 GeneticVariation disease BEFREE We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in UBA2, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. 28110515 2017