DST, dystonin, 667

N. diseases: 147; N. variants: 19
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 CausalMutation disease CLINVAR Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 Biomarker disease GENOMICS_ENGLAND Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. 25059916 2015
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 GermlineCausalMutation disease ORPHANET Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. 22113475 2012
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 Biomarker disease GENOMICS_ENGLAND 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
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 CausalMutation disease 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
CUI: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		0.600 Biomarker disease GENOMICS_ENGLAND