Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CECR cat eye syndrome chromosome region 0.599 0.731
SOX2-OT SOX2 overlapping transcript 0.597 0.615
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
HIVEP2 P31629 HIVEP zinc finger 2 1.00 0.711 0.500
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 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
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577