Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
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
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 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
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
SON P18583 SON DNA binding protein 1.00 0.565 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923