Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
CAPN1 P07384 calpain 1 Enzyme 5.9E-10 0.539 0.808
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
PTPRQ Q9UMZ3 protein tyrosine phosphatase receptor type Q 4.2E-21 0.751 0.462
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692
JMJD8 Q96S16 jumonji domain containing 8 6.1E-14 0.861 0.192