Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846 49 61
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654 38 16
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 36 56
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462 33 13
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769 32 74
TUBB6 Q9BUF5 tubulin beta 6 class V Cellular structure 1.7E-04 0.686 0.462 32 11
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769 31 10
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577 28 25
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654 25 25
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577 22 5
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346 22 1
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154 20 3
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577 14 15
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846 13 28
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808 7 23