Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
CECR cat eye syndrome chromosome region 0.599 0.731
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
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 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
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692