Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
RHO P08100 rhodopsin G-protein coupled receptor 1.3E-04 0.525 0.769
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808
WRN Q14191 WRN RecQ like helicase Enzyme 2.6E-34 0.524 0.808
TUB P50607 TUB bipartite transcription factor 3.1E-03 0.659 0.385
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
SLC19A1 P41440 solute carrier family 19 member 1 Transporter 6.5E-06 0.523 0.692
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
LIM2 P55344 lens intrinsic membrane protein 2 Cellular structure 6.8E-04 0.716 0.423