Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
ZEB1 P37275 zinc finger E-box binding homeobox 1 Transcription factor 0.97 0.442 0.808