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
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
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
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 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
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
NEB P20929 nebulin 4.6E-41 0.608 0.692
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885