Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DMD P11532 dystrophin 1.00 0.423 0.923
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
SLC20A2 Q08357 solute carrier family 20 member 2 Transporter 0.97 0.638 0.577
CLCN1 P35523 chloride voltage-gated channel 1 Ion channel 3.3E-20 0.641 0.423
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
SUOX P51687 sulfite oxidase 9.4E-07 0.638 0.615
CYP24A1 Q07973 cytochrome P450 family 24 subfamily A member 1 Enzyme 3.2E-23 0.518 0.692