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: 2153
Gene Symbol: F5
F5
coagulation factor V 0.441 0.846 5.9E-15
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
disease 0.020 None 1.000 2 0 2005 2007
Entrez Id: 2147
Gene Symbol: F2
F2
coagulation factor II, thrombin 0.415 0.885 1.1E-03
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 3135
Gene Symbol: HLA-G
HLA-G
major histocompatibility complex, class I, G 0.461 0.769 1.4E-11
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 50511
Gene Symbol: SYCP3
SYCP3
synaptonemal complex protein 3 0.663 0.385 9.2E-05
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
disease 0.310 None 1.000 1 0 2009 2009
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 2153
Gene Symbol: F5
F5
coagulation factor V 0.441 0.846 5.9E-15
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype 0.030 None 1.000 3 0 2005 2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype 0.030 None 1.000 3 0 2007 2007
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4504
Gene Symbol: MT3
MT3
metallothionein 3 0.582 0.615 6.4E-02
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype 0.310 None 1.000 1 0 2001 2005
Entrez Id: 635
Gene Symbol: BHMT
BHMT
betaine--homocysteine S-methyltransferase 0.595 0.731 3.7E-14
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype 0.310 None 1.000 1 0 2007 2007
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 10763
Gene Symbol: NES
NES
nestin 0.450 0.808 1.6E-06
CUI: C0000833
Disease: Abscess
Abscess
phenotype 0.010 None 1.000 1 0 2006 2006
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0000833
Disease: Abscess
Abscess
phenotype 0.020 None 0.500 1 0 2008 2010
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3 0.546 0.615 0.95
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.500 None 0.917 2 0 1999 2019
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
calcium voltage-gated channel subunit alpha1 H 0.628 0.423 4.8E-10
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.500 None 1.000 2 0 2003 2020
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
chloride voltage-gated channel 2 0.626 0.462 5.5E-12
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.020 None 1.000 1 0 2007 2019
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1958
Gene Symbol: EGR1
EGR1
early growth response 1 0.433 0.923 0.35
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CLN8 transmembrane ER and ERGIC protein 0.682 0.423 3.6E-03
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2550
Gene Symbol: GABBR1
GABBR1
gamma-aminobutyric acid type B receptor subunit 1 0.587 0.769 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.020 None 0.500 1 0 2003 2007
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2 0.548 0.654 0.74
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2002 2019