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
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
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
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 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
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
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HIVEP2 P31629 HIVEP zinc finger 2 1.00 0.711 0.500
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NADSYN1 Q6IA69 NAD synthetase 1 1.3E-16 0.780 0.231
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PAX2 Q02962 paired box 2 0.67 0.495 0.731
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923