Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11618508
rs11618508
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1213242722
rs1213242722
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE Does COMT val158met polymorphism influence P50 sensory gating, eye tracking or saccadic inhibition dysfunctions in schizophrenia? 27825784 2016
dbSNP: rs1400205549
rs1400205549
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE Does COMT val158met polymorphism influence P50 sensory gating, eye tracking or saccadic inhibition dysfunctions in schizophrenia? 27825784 2016
dbSNP: rs748086058
rs748086058
Entrez Id: 8874;100874238
Gene Symbol: ARHGEF7;ARHGEF7-AS2
ARHGEF7;ARHGEF7-AS2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE The combined treatment of riluzole and NaPB significantly extended survival and improved both the clinical and neuropathological phenotypes in G93A transgenic ALS mice beyond either agent alone. 18618304 2009
dbSNP: rs755836362
rs755836362
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE The combined treatment of riluzole and NaPB significantly extended survival and improved both the clinical and neuropathological phenotypes in G93A transgenic ALS mice beyond either agent alone. 18618304 2009
dbSNP: rs748086058
rs748086058
Entrez Id: 8874;100874238
Gene Symbol: ARHGEF7;ARHGEF7-AS2
ARHGEF7;ARHGEF7-AS2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE We have previously shown that several familial ALS-linked copper-zinc superoxide dismutase (SOD1) mutants (A4V, G85R, and G93A) interact and co-localize with the dynein-dynactin complex in cultured cells and affected tissues of ALS mice. 18515363 2008
dbSNP: rs755836362
rs755836362
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE We have previously shown that several familial ALS-linked copper-zinc superoxide dismutase (SOD1) mutants (A4V, G85R, and G93A) interact and co-localize with the dynein-dynactin complex in cultured cells and affected tissues of ALS mice. 18515363 2008
dbSNP: rs1213242722
rs1213242722
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE Effect of catechol O-methyltransferase val(158)met polymorphism on the p50 gating endophenotype in schizophrenia. 17448448 2007
dbSNP: rs1400205549
rs1400205549
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE Effect of catechol O-methyltransferase val(158)met polymorphism on the p50 gating endophenotype in schizophrenia. 17448448 2007
dbSNP: rs768007422
rs768007422
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE This study aimed to elucidate whether PNPLA3 I148M is involved in NF-kB-related inflammation regulation in NAFLD. 31793207 2020
dbSNP: rs1252641479
rs1252641479
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE Patients harboring a p.I553M variant presented with antibody deficiency, infection susceptibility, and multiorgan autoimmunity. 28115215 2017
dbSNP: rs1252641479
rs1252641479
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0162429
Disease:
Malnutrition
0.010 GeneticVariation BEFREE Patients harboring a p.I553M variant presented with antibody deficiency, infection susceptibility, and multiorgan autoimmunity. 28115215 2017
dbSNP: rs772912273
rs772912273
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE We have previously shown that several familial ALS-linked copper-zinc superoxide dismutase (SOD1) mutants (A4V, G85R, and G93A) interact and co-localize with the dynein-dynactin complex in cultured cells and affected tissues of ALS mice. 18515363 2008
dbSNP: rs774347347
rs774347347
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.010 GeneticVariation BEFREE Their peripheral blood mononuclear cells (PBMC) had increased basal NF-kappaB activation compared with healthy controls and also had increased p50 nuclear expression following tumour necrosis factor (TNF) stimulation compared with PBMC from healthy controls, as well as T50M (T79M) and C88R (C117R) patients with TRAPS and patients with rheumatoid arthritis (RA). 18086728 2008
dbSNP: rs774347347
rs774347347
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Their peripheral blood mononuclear cells (PBMC) had increased basal NF-kappaB activation compared with healthy controls and also had increased p50 nuclear expression following tumour necrosis factor (TNF) stimulation compared with PBMC from healthy controls, as well as T50M (T79M) and C88R (C117R) patients with TRAPS and patients with rheumatoid arthritis (RA). 18086728 2008
dbSNP: rs1164509546
rs1164509546
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Three mutations (Arg702Trp, Gly908Arg and Leu1007fsinsC) within the NOD2/CARD15 gene increase CD susceptibility. 15198989 2004
dbSNP: rs767667465
rs767667465
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling. 12679424 2003
dbSNP: rs1445362103
rs1445362103
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0000889
Disease:
Acanthosis Nigricans
0.010 GeneticVariation BEFREE We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans. 12107746 2002
dbSNP: rs1445362103
rs1445362103
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C3714756
Disease:
Intellectual Disability
0.010 GeneticVariation BEFREE Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. 10946356 2000
dbSNP: rs759442241
rs759442241
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0865274
Disease:
High-oxygen-affinity hemoglobin
0.010 GeneticVariation BEFREE Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis. 1427427 1992
dbSNP: rs759442241
rs759442241
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C1318533
Disease:
Secondary polycythemia
0.010 GeneticVariation BEFREE Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis. 1427427 1992
dbSNP: rs779735456
rs779735456
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C1318533
Disease:
Secondary polycythemia
0.010 GeneticVariation BEFREE Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis. 1427427 1992
dbSNP: rs779735456
rs779735456
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
CUI: C0865274
Disease:
High-oxygen-affinity hemoglobin
0.010 GeneticVariation BEFREE Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis. 1427427 1992