Source: LHGDN

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: 338
Gene Symbol: APOB
APOB
apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.200 None 0.971 1 0 1985 2019
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.800 None 0.982 1 0 1985 2019
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
FA complementation group D2 0.479 0.885 1.1E-30
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 1 0 2003 2007
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2002 2002
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 1 0 1999 2019
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
plakophilin 2 0.606 0.538 3.1E-18
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1
PLAG1 like zinc finger 1 0.566 0.769 0.98
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 1 0 2004 2013
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
protein kinase C alpha 0.440 0.846 0.37
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.070 None 1.000 1 0 1996 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.060 None 1.000 6 0 2003 2009
Entrez Id: 3135
Gene Symbol: HLA-G
HLA-G
major histocompatibility complex, class I, G 0.461 0.769 1.4E-11
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.030 None 1.000 3 0 2002 2006
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.020 None 1.000 2 0 2004 2007
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
serpin family E member 1 0.359 0.885 4.4E-02
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.020 None 1.000 2 0 2003 2005
Entrez Id: 52
Gene Symbol: ACP1
ACP1
acid phosphatase 1 0.566 0.731 1.8E-08
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.020 None 1.000 2 0 2007 2008
Entrez Id: 10578
Gene Symbol: GNLY
GNLY
granulysin 0.584 0.692 9.7E-09
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
cytochrome P450 family 1 subfamily B member 1 0.457 0.769 2.2E-05
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.010 None 1.000 1 0 2006 2006
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.010 None 1.000 1 0 2003 2003
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
angiotensin II receptor type 1 0.423 0.846 5.3E-04
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.310 None 1.000 1 0 2004 2008
Entrez Id: 259197
Gene Symbol: NCR3
NCR3
natural cytotoxicity triggering receptor 3 0.638 0.769 3.7E-04
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.310 None 1.000 1 0 2008 2008
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
interleukin 1 receptor antagonist 0.373 0.923 3.1E-02
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.010 None 1.000 1 0 2003 2003
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
integrin subunit beta 3 0.485 0.846 1.7E-03
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype 0.010 None 1.000 1 0 2008 2008