Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABO P16442 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Enzyme 0.427 0.885
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
ACVRL1 P37023 activin A receptor like type 1 Kinase 9.7E-04 0.493 0.769
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885
CCL2 P13500 C-C motif chemokine ligand 2 Signaling 0.61 0.321 0.962
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CSF2 P04141 colony stimulating factor 2 Signaling 0.83 0.330 0.962
ENG P17813 endoglin 1.00 0.446 0.846
EPO P01588 erythropoietin 1.1E-02 0.381 0.885
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962
ESR2 Q92731 estrogen receptor 2 Nuclear receptor 4.5E-08 0.400 0.923
F2 P00734 coagulation factor II, thrombin Enzyme 1.1E-03 0.415 0.885
F5 P12259 coagulation factor V Enzyme 5.9E-15 0.441 0.846
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808
IL10 P22301 interleukin 10 5.9E-03 0.281 0.923
KDR P35968 kinase insert domain receptor Kinase 1.00 0.378 0.885
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
PLAT P00750 plasminogen activator, tissue type Enzyme 5.7E-05 0.445 0.885
PLG P00747 plasminogen Enzyme 1.0E-02 0.389 0.923
PROC P04070 protein C, inactivator of coagulation factors Va and VIIIa Enzyme 1.9E-05 0.504 0.808
SERPINC1 P01008 serpin family C member 1 Enzyme modulator 1.00 0.507 0.769
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808