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
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
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CECR cat eye syndrome chromosome region 0.599 0.731
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
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
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
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
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
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
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731