Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADH1C P00326 alcohol dehydrogenase 1C (class I), gamma polypeptide Enzyme 0.547 0.731
TRNL1 tRNA 0.534 0.731
DGKK Q5KSL6 diacylglycerol kinase kappa Enzyme 0.780 0.385
TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) 0.538 0.769
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
RTTN Q86VV8 rotatin 9.0E-34 0.619 0.654
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
VLDLR P98155 very low density lipoprotein receptor 2.0E-11 0.558 0.692
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
WDR11 Q9BZH6 WD repeat domain 11 1.4E-08 0.524 0.808
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692
PROKR2 Q8NFJ6 prokineticin receptor 2 G-protein coupled receptor 2.4E-06 0.538 0.731
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
HESX1 Q9UBX0 HESX homeobox 1 8.0E-04 0.561 0.654
PROK2 Q9HC23 prokineticin 2 Signaling 1.4E-02 0.555 0.769
RPS20 P60866 ribosomal protein S20 Nucleic acid binding 2.1E-02 0.610 0.692
SRPX2 O60687 sushi repeat containing protein X-linked 2 4.8E-02 0.621 0.462
HOXB1 P14653 homeobox B1 8.2E-02 0.633 0.538
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615