Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
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
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
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CECR cat eye syndrome chromosome region 0.599 0.731
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CHUK O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 0.99 0.556 0.731
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
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
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808