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: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		phenotype 0.100 None 0 2
Entrez Id: 3861
Gene Symbol: KRT14
KRT14 		keratin 14 0.530 0.731 2.0E-04
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		phenotype 0.100 None 0 1