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: 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: 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: 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
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
glucose-6-phosphatase catalytic subunit 3 0.606 0.731 4.7E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 11 0 2009 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 0.900 10 2 1996 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
paired box 2 0.495 0.731 0.67
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 10 0 1999 2014
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 10 0 1997 2014
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 10 0 1996 2017
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
tubulin alpha 1a 0.597 0.769 0.97
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.100 None 1.000 10 0 2007 2017
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.090 None 1.000 9 0 2004 2020
Entrez Id: 10370
Gene Symbol: CITED2
CITED2
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 0.576 0.654 0.76
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.080 None 1.000 8 0 2005 2020
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.080 None 0.750 8 0 1999 2018
Entrez Id: 1641
Gene Symbol: DCX
DCX
doublecortin 0.511 0.769 0.30
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.080 None 1.000 8 0 1999 2019