Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CECR cat eye syndrome chromosome region 0.599 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
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
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923