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
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 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
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
CHUK O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 0.99 0.556 0.731
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
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
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CUL3 Q13618 cullin 3 1.00 0.592 0.654
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
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
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769