Disease: Deformity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
AXIN2 Q9Y2T1 axin 2 0.57 0.507 0.692
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885
CBSL P0DN79 P35520 cystathionine beta-synthase like 0.540 0.808
CRISPLD2 Q9H0B8 cysteine rich secretory protein LCCL domain containing 2 Immune response 7.8E-09 0.585 0.769
CTNND1 O60716 catenin delta 1 Cellular structure 1.00 0.500 0.808
DNTT P04053 DNA nucleotidylexotransferase Enzyme 3.0E-10 0.606 0.692
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
GREM1 O60565 gremlin 1, DAN family BMP antagonist 0.47 0.508 0.808
GSTP1 P09211 glutathione S-transferase pi 1 1.4E-02 0.383 0.923
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
IRF6 O14896 interferon regulatory factor 6 Transcription factor 1.00 0.486 0.769
MSX1 P28360 msh homeobox 1 Transcription factor 0.17 0.525 0.731
MTHFD1 P11586 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Enzyme 4.5E-03 0.554 0.769
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885
NAT1 P18440 N-acetyltransferase 1 Enzyme 1.9E-14 0.536 0.846
NCL P19338 nucleolin Nucleic acid binding 1.00 0.509 0.808
NECTIN1 Q15223 nectin cell adhesion molecule 1 6.1E-02 0.523 0.808
NHLH1 Q02575 nescient helix-loop-helix 1 Transcription factor 0.26 0.686 0.538
NTN1 O95631 netrin 1 Enzyme modulator 1.00 0.509 0.846
PAX9 P55771 paired box 9 0.31 0.636 0.538
TGFA P01135 transforming growth factor alpha Signaling 0.72 0.432 0.885
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962
TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) 0.538 0.769