Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
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
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 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
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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769