Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
FAT1 Q14517 FAT atypical cadherin 1 1.2E-12 0.508 0.808
FGF10 O15520 fibroblast growth factor 10 Signaling 0.94 0.530 0.692
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846
FOXF1 Q12946 forkhead box F1 0.96 0.540 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FOXL2 P58012 forkhead box L2 Transcription factor 0.88 0.542 0.692
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
G6PC3 Q9BUM1 glucose-6-phosphatase catalytic subunit 3 4.7E-06 0.606 0.731
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GJB6 O95452 gap junction protein beta 6 Cell-cell junction 1.7E-07 0.528 0.808
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
HCCS P53701 holocytochrome c synthase Enzyme 0.89 0.559 0.731