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
HOXA@ homeobox A cluster 0.599 0.654
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
MIR17HG Q75NE6 miR-17-92a-1 cluster host gene 0.483 0.808
CD24 P25063 CD24 molecule 0.472 0.769
H3P9 H3 histone pseudogene 9 0.505 0.731
H3P10 H3 histone pseudogene 10 0.350 0.846
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
EVC2 Q86UK5 EvC ciliary complex subunit 2 1.0E-34 0.585 0.692
SLC12A3 P55017 solute carrier family 12 member 3 Transporter 3.0E-32 0.493 0.808
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 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
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
F5 P12259 coagulation factor V Enzyme 5.9E-15 0.441 0.846
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808
SLCO6A1 Q86UG4 solute carrier organic anion transporter family member 6A1 Transporter 2.9E-11 0.412 0.885
CYP2B6 P20813 cytochrome P450 family 2 subfamily B member 6 1.9E-10 0.428 0.846
NAAA Q02083 N-acylethanolamine acid amidase Enzyme 2.1E-10 0.579 0.692
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885
MGMT P16455 O-6-methylguanine-DNA methyltransferase 1.2E-07 0.412 0.885