Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.500 None 0.962 26 4 1995 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.480 None 0.909 11 1 1984 2017
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.350 None 1.000 5 0 1998 2011
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
VANGL planar cell polarity protein 2 0.588 0.615 0.84
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.330 None 1.000 4 0 2011 2018
Entrez Id: 5110
Gene Symbol: PCMT1
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 0.691 0.423 0.78
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.320 None 1.000 2 2 2006 2012
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.310 None 1.000 2 0 2006 2008
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
thioredoxin 2 0.628 0.615 2.6E-05
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.310 None 1.000 1 0 2009 2009
Entrez Id: 1072
Gene Symbol: CFL1
CFL1
cofilin 1 0.529 0.769 0.56
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.310 None 1.000 1 3 2007 2007
Entrez Id: 1119
Gene Symbol: CHKA
CHKA
choline kinase alpha 0.615 0.615 0.23
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.310 None 1.000 1 0 2006 2006
Entrez Id: 5444
Gene Symbol: PON1
PON1
paraoxonase 1 0.409 0.885 9.8E-11
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.310 None 1.000 1 2 2010 2010
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.310 None 1.000 1 1 2006 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.300 None 1.000 1 0 1998 1998
Entrez Id: 6045
Gene Symbol: RNF2
RNF2
ring finger protein 2 0.608 0.615 1.00
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.200 None 1.000 1 0 2010 2010
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12
SUZ12 polycomb repressive complex 2 subunit 0.529 0.577 1.00
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.200 None 1.000 1 0 2010 2010
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.180 None 1.000 8 4 1999 2017
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.150 None 0.800 5 0 1997 2009
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 0.554 0.769 4.5E-03
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.120 None 1.000 2 3 2009 2016
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.110 None 1.000 1 1 2006 2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.110 None 1.000 1 2 2013 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.110 None 1.000 1 0 2007 2007
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.543 0.731 8.9E-37
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.100 None 0 0
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.100 None 0 0