Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype 0.100 None 0 6
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype 0.100 None 0 1
Entrez Id: 5498
Gene Symbol: PPOX
PPOX 		protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype 0.100 None 0 2
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype 0.100 None 0 1