Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.406 0.724 483
FGFR2 P21802 fibroblast growth factor receptor 2 1.00 0.398 0.759 374
FLNA P21333 filamin A 1.00 0.456 0.793 361
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.474 0.724 312
FGFR3 P22607 fibroblast growth factor receptor 3 1.8E-05 0.417 0.759 312
FGFR1 P11362 fibroblast growth factor receptor 1 1.00 0.388 0.759 307
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase 1.00 0.352 0.793 303
ELN P15502 elastin 2.3E-14 0.455 0.828 238
PEX1 O43933 peroxisomal biogenesis factor 1 3.3E-14 0.554 0.655 225
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 8.1E-22 0.507 0.690 204
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.466 0.690 199
GBA P04062 glucosylceramidase beta 5.6E-06 0.521 0.724 188
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 3.3E-34 0.561 0.655 185
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655 184
PEX2 P28328 peroxisomal biogenesis factor 2 2.8E-04 0.575 0.621 182
FLNB O75369 filamin B 4.9E-10 0.501 0.862 179
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.524 0.586 176
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 2.3E-06 0.573 0.655 173
OFD1 O75665 OFD1, centriole and centriolar satellite protein 0.97 0.547 0.724 172
PEX6 Q13608 peroxisomal biogenesis factor 6 3.7E-05 0.562 0.655 171
PTPN11 Q06124 protein tyrosine phosphatase, non-receptor type 11 1.00 0.429 0.828 168
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 1.00 0.546 0.655 162
FKRP Q9H9S5 fukutin related protein 6.3E-05 0.514 0.586 162
ATRX P46100 ATRX, chromatin remodeler 1.00 0.489 0.690 161