Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
RNF13 O43567 ring finger protein 13 4.0E-04 0.722 0.346
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
FLNB O75369 filamin B 6.1E-10 0.458 0.923
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
GPC4 O75487 glypican 4 0.93 0.547 0.769
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
SIX3 O95343 SIX homeobox 3 Transcription factor 0.95 0.560 0.692
POLR1A O95602 RNA polymerase I subunit A Enzyme 1.00 0.682 0.538
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FLNA P21333 filamin A 1.00 0.419 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808