Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
NID1 P14543 nidogen 1 7.2E-12 0.631 0.577
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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
GJA5 P36382 gap junction protein alpha 5 Cell-cell junction 1.8E-02 0.575 0.577
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
ROR2 Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 1.2E-04 0.498 0.731
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692