Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 152 44
NEB P20929 nebulin 4.6E-41 0.608 0.692 148 280
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 223 32
TTC7A Q9ULT0 tetratricopeptide repeat domain 7A 1.5E-31 0.641 0.577 59 26
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 320 248
TTC37 Q6PGP7 tetratricopeptide repeat domain 37 1.7E-29 0.626 0.654 91 12
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 317 213
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692 188 30
CLCNKB P51801 chloride voltage-gated channel Kb Ion channel 1.4E-22 0.593 0.692 139 24
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 195 27
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615 173 25
PIEZO1 Q92508 piezo type mechanosensitive ion channel component 1 Ion channel 3.9E-21 0.552 0.769 130 42
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654 160 24
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885 405 11
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 260 410
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692 124 15
ITGB4 P16144 integrin subunit beta 4 Receptor 9.5E-19 0.525 0.731 171 29
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769 214 82
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 82 45
CLCNKA P51800 chloride voltage-gated channel Ka Ion channel 4.2E-17 0.711 0.385 37 6
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654 111 14
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500 64 18
SLC12A1 Q13621 solute carrier family 12 member 1 Transporter 6.7E-17 0.631 0.538 87 29
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 157 11