DSG4, desmoglein 4, 147409

N. diseases: 40; N. variants: 10
Disease: Total Hypotrichosis, Mari type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767724665
rs767724665
Entrez Id: 147409;101927718
Gene Symbol: DSG4;DSG1-AS1
DSG4;DSG1-AS1
CUI: C1836672
Disease:
Total Hypotrichosis, Mari type 		0.010 GeneticVariation BEFREE Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. 26173648 2015