DST, dystonin, 667

N. diseases: 147; N. variants: 19
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201045495
rs201045495
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
dbSNP: rs201045495
rs201045495
Entrez Id: 667
Gene Symbol: DST
DST
CUI: C3809470
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. 20164846 2010