Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 425
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 337
ELN P15502 elastin 2.1E-14 0.415 0.885 248
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769 245
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 206
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731 184
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808 175
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808 175
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769 175
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731 175
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769 175
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731 175
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 173
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 159
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 155
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 152
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692 148
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 147