Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
RFT1 Q96AA3 RFT1 homolog 3.7E-13 0.700 0.500
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
SCAMP4 Q969E2 secretory carrier membrane protein 4 Enzyme 4.6E-03 0.931 0.077
ADAT3 Q96EY9 adenosine deaminase tRNA specific 3 5.6E-03 0.736 0.385
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462