Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 468
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 382
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 327
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
PTCH1 Q13635 patched 1 1.00 0.398 0.885 262
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 236
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 220
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 216
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769 214
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 209
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 209
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769 198
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 196
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 194
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846 191
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 187
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 187
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 176
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 174
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808 172
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 170
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 168
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 167