Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 26 250
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846 24 29
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615 22 11
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 22 616
TRNL1 tRNA 0.534 0.731 22 11
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808 19 38
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 8 16
PAX3 P23760 paired box 3 0.24 0.481 0.769 7 46
TECTA O75443 tectorin alpha 3.0E-16 0.700 0.385 7 16
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
CEP78 Q5JTW2 centrosomal protein 78 6.2E-12 0.686 0.346 3 7
CDC14A Q9UNH5 cell division cycle 14A 9.6E-08 0.736 0.385 2 5
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
MYO15A Q9UKN7 myosin XVA Cellular structure 1.3E-56 0.722 0.346 6 72
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20 14
POLR2F P61218 RNA polymerase II subunit F Enzyme 1.3E-02 0.722 0.308 20 40
PRSS23 O95084 serine protease 23 Enzyme 1.9E-05 0.722 0.346 12 8
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577 12 7