Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
DNAH7 Q8WXX0 dynein axonemal heavy chain 7 Enzyme 1.4E-71 0.769 0.346
ENG P17813 endoglin 1.00 0.446 0.846
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
SERPINA1 P01009 serpin family A member 1 Enzyme modulator 6.8E-08 0.410 0.923
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885
USP11 P51784 ubiquitin specific peptidase 11 Enzyme 1.00 0.691 0.654