Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
PMPCA Q10713 peptidase, mitochondrial processing subunit alpha Enzyme 3.4E-11 0.633 0.577
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
MECR Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 2.2E-05 0.736 0.385
OAT P04181 ornithine aminotransferase Enzyme 7.7E-07 0.593 0.731
WARS2 Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 5.1E-02 0.617 0.577
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
SLC25A46 Q96AG3 solute carrier family 25 member 46 Transporter 1.3E-05 0.695 0.308