Disease: Deformity
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACSS2 Q9NR19 acyl-CoA synthetase short chain family member 2 Enzyme 1.1E-13 0.506 0.808
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885
CBSL P0DN79 P35520 cystathionine beta-synthase like 0.540 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CKAP4 Q07065 cytoskeleton associated protein 4 0.51 0.436 0.731
FGF10 O15520 fibroblast growth factor 10 Signaling 0.94 0.530 0.692
FGF3 P11487 fibroblast growth factor 3 Signaling 9.3E-05 0.505 0.808
FGF8 P55075 fibroblast growth factor 8 Signaling 0.68 0.507 0.769
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HFM Hemifacial microsomia 0.722 0.385
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
IRF6 O14896 interferon regulatory factor 6 Transcription factor 1.00 0.486 0.769
KRIT1 O00522 KRIT1 ankyrin repeat containing 6.9E-04 0.500 0.808
MID1 O15344 midline 1 0.98 0.621 0.654
MSX1 P28360 msh homeobox 1 Transcription factor 0.17 0.525 0.731
MTHFD1 P11586 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Enzyme 4.5E-03 0.554 0.769
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885
MTR Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 2.4E-12 0.482 0.808
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
NAT1 P18440 N-acetyltransferase 1 Enzyme 1.9E-14 0.536 0.846
NECTIN1 Q15223 nectin cell adhesion molecule 1 6.1E-02 0.523 0.808