Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308