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: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.400 None 1.000 12 2 2005 2019
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.350 None 1.000 6 0 1999 2018
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.350 None 1.000 6 0 2002 2019
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.350 None 1.000 6 0 2003 2019
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
delta like canonical Notch ligand 3 0.552 0.654 5.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.330 None 1.000 4 0 2002 2011
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.330 None 1.000 4 0 2010 2018
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
folate receptor alpha 0.522 0.885 0.13
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.310 None 1.000 2 0 2010 2018
Entrez Id: 1295
Gene Symbol: COL8A1
COL8A1
collagen type VIII alpha 1 chain 0.678 0.538 0.41
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 1317
Gene Symbol: SLC31A1
SLC31A1
solute carrier family 31 member 1 0.612 0.577 6.5E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.300 None 1.000 1 0 2001 2001
Entrez Id: 156
Gene Symbol: GRK2
GRK2
G protein-coupled receptor kinase 2 0.532 0.654 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 9314
Gene Symbol: KLF4
KLF4
Kruppel like factor 4 0.449 0.769 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 4807
Gene Symbol: NHLH1
NHLH1
nescient helix-loop-helix 1 0.686 0.538 0.26
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 0.981 54 0 2009 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 0.963 27 2 1999 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 0.962 26 0 2004 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 21 0 1995 2020
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 20 0 1994 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 0.947 19 0 1991 2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 17 0 1994 2020
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 16 0 2003 2019
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
forkhead box C1 0.483 0.846 0.95
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 0.933 15 1 1998 2017
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 0.846 13 2 1997 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 12 0 1999 2017
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 12 0 2001 2016
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 11 0 1997 2018
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
forkhead box L2 0.542 0.692 0.88
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 11 0 2003 2019