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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 341
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 327
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 325
FLNA P21333 filamin A 1.00 0.419 0.846 298
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 283
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 279
PTCH1 Q13635 patched 1 1.00 0.398 0.885 262
ELN P15502 elastin 2.1E-14 0.415 0.885 257
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 239
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 232
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 225
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 224
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 221
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846 220
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 218
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769 214
TRNL1 tRNA 0.534 0.731 213
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 212
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
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 209
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 207
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205