Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
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
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CECR cat eye syndrome chromosome region 0.599 0.731
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
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
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385