Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		Q02388 collagen type VII alpha 1 chain Receptor 38 0.545 0.808 2.4E-40 0.120 None 1.000 0 4 2001 2004
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		Q9UMD9 collagen type XVII alpha 1 chain 18 0.545 0.769 2.3E-27 0.100 None 0 1
Entrez Id: 1736
Gene Symbol: DKC1
DKC1 		O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 12 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 22 0.471 0.846 0.99 0.100 None 0 1