Source: INFERRED

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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 342
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 341
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 326
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 325
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 283
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 279
ELN P15502 elastin 2.1E-14 0.415 0.885 257
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 236
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 225
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808 221
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
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 218
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 216
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 216
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
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 200
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769 198