Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 GeneticVariation LHGDN ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene. 19056372

2009

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.200 GeneticVariation LHGDN ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene. 19056372

2009

Entrez Id: 50511
Gene Symbol: SYCP3
SYCP3
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.310 GeneticVariation LHGDN Mutations of the SYCP3 gene in women with recurrent pregnancy loss. 19110213

2009

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.020 GeneticVariation LHGDN Association between adverse pregnancy outcomes and maternal factor V G1691A (Leiden) and prothrombin G20210A genotypes in women with a history of recurrent idiopathic miscarriages. 16138341

2005

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.020 AlteredExpression LHGDN Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR. 17640947

2007

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.010 GeneticVariation LHGDN Association between adverse pregnancy outcomes and maternal factor V G1691A (Leiden) and prothrombin G20210A genotypes in women with a history of recurrent idiopathic miscarriages. 16138341

2005

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.010 GeneticVariation LHGDN Vascular endothelial growth factor gene polymorphisms and idiopathic recurrent pregnancy loss. 15820807

2005

Entrez Id: 3135
Gene Symbol: HLA-G
HLA-G
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.010 GeneticVariation LHGDN Association between human leukocyte antigen-G genotype and success of in vitro fertilization and pregnancy outcome. 15191524

2004

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
0.010 GeneticVariation LHGDN Prevalence of hyperhomocysteinemia in adult gluten-sensitive enteropathy at diagnosis: role of B12, folate, and genetics. 15952099

2005

Entrez Id: 4846
Gene Symbol: NOS3
NOS3
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.310 GeneticVariation LHGDN Furthermore, in the pre-eclampsia patients who subsequently developed abruptio placentae, the eNOS GT genotype emerged as a major risk factor for the development of abruptio placentae (p<0.0001). 16059745

2005

Entrez Id: 635
Gene Symbol: BHMT
BHMT
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.310 GeneticVariation LHGDN In this population, there was an association between the homozygous mutant form of BHMT (742G-->A) polymorphism and increased risk for placental abruption. 17376725

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.030 GeneticVariation LHGDN The prevalence of FVL, prothrombin G20210A and MTHFR C677T was related to placental abruption. 17627684

2007

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.030 GeneticVariation LHGDN Combined inherited thrombophilia and adverse pregnancy outcome. 18225686

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.030 GeneticVariation LHGDN We examined 2 variants in MTHFR: 677C-->T and 1298A-->C in genomic DNA extracted from maternal blood from the New Jersey-Placental Abruption Study, an ongoing, multicenter case-controlled study. 17904970

2007

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.030 Biomarker LHGDN We found that factor V Leiden is a significant risk factor for placental abruption. 17627684

2007

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.030 GeneticVariation LHGDN Although the small number of cases of combined inherited thrombophilia, it seems that the presence of FV Leiden/MTHFR T677T double genotype increases the risk for placental abruption. 18225686

2007

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.030 GeneticVariation LHGDN M385T polymorphism in the factor V gene, but not Leiden mutation, is associated with placental abruption in Finnish women. 15450391

2005

Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.010 GeneticVariation LHGDN We assessed whether the reduced folate carrier [NM_194255.1: c.80A-->G (i.e., p.His27Arg)] (RFC-1) polymorphism was associated with placental abruption, and evaluated if maternal smoking modified the association between plasma folate and abruption. 18629538

2008

Entrez Id: 183
Gene Symbol: AGT
AGT
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.010 GeneticVariation LHGDN Placental abruption is more frequent in women with the angiotensinogen Thr235 mutation. 17116328

2007

Entrez Id: 4504
Gene Symbol: MT3
MT3
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
0.010 AlteredExpression LHGDN The increase in metallothionein and ectopic decidual immunoreactivity with respect to the progression of labor at term and the lack of analogical changes in placental abruption. 18782281

2008

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0000833
Disease: Abscess
Abscess
0.020 Biomarker LHGDN Analysis of the NOD2/CARD15 gene in patients affected with the aseptic abscesses syndrome with or without inflammatory bowel disease. 17570063

2008

Entrez Id: 10763
Gene Symbol: NES
NES
CUI: C0000833
Disease: Abscess
Abscess
0.010 AlteredExpression LHGDN In a series of 40 surgical specimens, including gliomas, vascular malformations, abscesses and angiomas, the glial reaction has been studied by immunohistochemistry and immunofluorescence of Nestin, GFAP and Vimentin. 16826367

2006

Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 AlteredExpression LHGDN A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. 16835263

2006

Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 GeneticVariation LHGDN Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. 17156077

2007

Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 GeneticVariation LHGDN Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902) which displayed a reduced transcriptional activity and showed a strong allelic association with childhood absence epilepsy (CAE). 17215107

2007