Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AFF4 Q9UHB7 AF4/FMR2 family member 4 Transcription factor 1.00 0.644 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CUL3 Q13618 cullin 3 1.00 0.592 0.654
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885