Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
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
AFF4 Q9UHB7 AF4/FMR2 family member 4 Transcription factor 1.00 0.644 0.769
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 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
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
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
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846