Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNL1 tRNA 0.534 0.731
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BCHE P06276 butyrylcholinesterase 1.1E-13 0.447 0.923
CDAN1 Q8IWY9 codanin 1 1.1E-12 0.610 0.731
MNAT1 P51948 MNAT1 component of CDK activating kinase Enzyme modulator 1.3E-12 0.539 0.846
STAR P49675 steroidogenic acute regulatory protein 8.8E-11 0.513 0.808
MC3R P41968 melanocortin 3 receptor G-protein coupled receptor 1.0E-07 0.695 0.462
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
OXTR P30559 oxytocin receptor G-protein coupled receptor 7.1E-04 0.541 0.769
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
CRP P02741 C-reactive protein 3.7E-03 0.299 0.962
PTGDS P41222 prostaglandin D2 synthase Enzyme 5.1E-03 0.503 0.846
IL10 P22301 interleukin 10 5.9E-03 0.281 0.923
EPO P01588 erythropoietin 1.1E-02 0.381 0.885
SLC46A1 Q96NT5 solute carrier family 46 member 1 Transporter 2.2E-02 0.606 0.731
IL1RN P18510 interleukin 1 receptor antagonist 3.1E-02 0.373 0.923
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
MBP P02686 myelin basic protein 0.28 0.510 0.885
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885