DSG4, desmoglein 4, 147409

N. diseases: 40; N. variants: 10
Disease: Congenital hypotrichia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		0.030 GeneticVariation disease BEFREE This study further extends the body of evidence that mutations in the DSG4 gene result in both hypotrichosis and monilethrix-like scalp hair. 25251037 2015
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		0.030 GeneticVariation disease BEFREE Here we present the observation that mutations in the DSG4 gene can cause monilethrix-like congenital hypotrichosis. 16439973 2006
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		0.030 GeneticVariation disease BEFREE The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as well as in the lanceolate hair mouse. 12705872 2003