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
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
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
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
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
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
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769