Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
EGF P01133 epidermal growth factor 8.5E-17 0.357 0.923
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
AGER Q15109 advanced glycosylation end-product specific receptor Receptor 6.4E-16 0.420 0.885
LAMC2 Q13753 laminin subunit gamma 2 Enzyme modulator 2.9E-12 0.389 0.923
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
REN P00797 renin Enzyme 2.4E-07 0.370 0.923
PRKD1 Q15139 protein kinase D1 Kinase 6.6E-07 0.531 0.846
NOS3 P29474 nitric oxide synthase 3 6.7E-07 0.378 0.885
PIK3CG P48736 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Kinase 1.4E-06 0.320 0.885
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885
VEGFA P15692 vascular endothelial growth factor A Signaling 2.4E-05 0.266 0.923
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
HLA-A P04439 major histocompatibility complex, class I, A 1.3E-03 0.370 0.846
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885
CST3 P01034 cystatin C 3.9E-03 0.436 0.808
HBA1 P69905 hemoglobin subunit alpha 1 6.7E-03 0.508 0.808
PLG P00747 plasminogen Enzyme 1.0E-02 0.389 0.923
EPO P01588 erythropoietin 1.1E-02 0.381 0.885
PPARG P37231 peroxisome proliferator activated receptor gamma Nuclear receptor 2.9E-02 0.358 0.885
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962