Source: ALL

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846 351 37
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 345 48
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846 345 21
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885 341 33
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846 334 75
RTEL1 Q9NZ71 regulator of telomere elongation helicase 1 Enzyme 8.9E-10 0.459 0.808 321 82
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885 321 71
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 320 248
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808 319 25
NF2 P35240 neurofibromin 2 1.00 0.468 0.885 312 54
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885 308 15
SHH Q15465 sonic hedgehog signaling molecule 0.98 0.461 0.846 303 44
HAVCR2 Q8TDQ0 hepatitis A virus cellular receptor 2 3.9E-02 0.450 0.808 299 11
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808 297 25
VEGFC P49767 vascular endothelial growth factor C Signaling 0.50 0.459 0.769 291 12
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 287 533
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731 277 62
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808 273 15
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 272 36
TNFRSF11A Q9Y6Q6 TNF receptor superfamily member 11a 8.8E-03 0.480 0.846 270 22
GATA1 P15976 GATA binding protein 1 0.95 0.483 0.808 264 19
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808 261 21
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769 260 46
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808 259 25