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
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 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
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
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
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731
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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
NMNAT2 Q9BZQ4 nicotinamide nucleotide adenylyltransferase 2 Enzyme 0.99 0.670 0.500
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769