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Disease table of EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
OMIM ID: 226670
Gene-disease associations table
Gene
Associated with EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY in
Link to HGNC
Cytogenetic band
Number of associated diseases
Associated diseases
PLEC
ClinVar, OMIM
HGNC link
8q24.3
5
612138
,
131950
,
PS253600
,
616487
,
226670
Download the disease annotation in CSV format