rs953038635, SOD2

N. diseases: 51
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.010 GeneticVariation BEFREE Ala-9Val polymorphism of Mn-SOD gene in sickle cell anemia. 21574139 2011
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.090 GeneticVariation BEFREE Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismutase gene (MnSOD: Ala-9Val) polymorphisms on tardive dyskinesia in patients with schizophrenia. 18977034 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE An alanine-9valine (Ala-9Val) polymorphism in the mitochondrial targeting sequence of MnSOD has been described and has recently been associated with risk of human breast cancer. 15386537 2005
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE An alanine-9valine (Ala-9Val) polymorphism in the mitochondrial targeting sequence of MnSOD has been described and has recently been associated with risk of human breast cancer. 15386537 2005
Mood Disorders
CUI: C0525045
Disease: Mood Disorders
0.020 GeneticVariation BEFREE Analysis of manganese superoxide dismutase (MnSOD: Ala-9Val) and glutathione peroxidase (GSH-Px: Pro 197 Leu) gene polymorphisms in mood disorders. 23725507 2013
Recurrent depressive disorder
CUI: C0349218
Disease: Recurrent depressive disorder
0.010 GeneticVariation BEFREE Analysis of two polymorphisms of the manganese superoxide dismutase gene (Ile-58Thr and Ala-9Val) in patients with recurrent depressive disorder. 20478627 2010
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.090 GeneticVariation BEFREE Association between Ala-9Val polymorphism of Mn-SOD gene and schizophrenia. 15610954 2005
Aggressive periodontitis, generalized
0.010 GeneticVariation BEFREE Association between Manganese Superoxide Dismutase (MnSOD Val-9Ala) genotypes with the risk of generalized aggressive periodontitis disease. 26718428 2015
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
0.020 GeneticVariation BEFREE Chinese Han patients with schizophrenia were assessed for abnormal involuntary movements, and subgroups of 42 patients with persistent tardive dyskinesia and 59 consistently without dyskinesias were assessed for the DRD3 ser9gly and the MnSOD ala-9val polymorphisms. 12960753 2003
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Effects of manganase superoxide dismutase Ala-9Val polymorphism on prostate cancer: a case-control study. 17465268 2007
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.020 GeneticVariation BEFREE Effects of manganase superoxide dismutase Ala-9Val polymorphism on prostate cancer: a case-control study. 17465268 2007
Sepsis
CUI: C0243026
Disease: Sepsis
0.010 GeneticVariation BEFREE Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis including two genetic variants GPx1 and SOD2 (47C>T SNP, rs4880; protein variant in MnSOD: Ala-9Val) showed a significant difference in relation to progression to septic shock. 25497738 2015
Septicemia
CUI: C0036690
Disease: Septicemia
0.010 GeneticVariation BEFREE Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis including two genetic variants GPx1 and SOD2 (47C>T SNP, rs4880; protein variant in MnSOD: Ala-9Val) showed a significant difference in relation to progression to septic shock. 25497738 2015
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.010 GeneticVariation BEFREE Evidence for an association between haptoglobin and MnSOD (Val9Ala) gene polymorphisms in essential hypertension based on a Brazilian case-control study. 21053180 2010
Tardive Dyskinesia
CUI: C0686347
Disease: Tardive Dyskinesia
0.090 GeneticVariation BEFREE Evidence from pooled data for genetic association with tardive dyskinesia (TD) showed (1) in COMT(val158met), using Val-Val homozygotes as reference category, a protective effect for Val-Met heterozygotes (OR=0.63, 95% CI: 0.46-0.86, P=0.004) and Met carriers (OR=0.66, 95% CI: 0.49-0.88, P=0.005); (2) in Taq1A in DRD2, using the A1 variant as reference category, a risk-increasing effect for the A2 variant (OR=1.30, 95% CI: 1.03-1.65, P=0.026), and A2-A2 homozygotes using A1-A1 as reference category (OR=1.80, 95% CI: 1.03-3.15, P=0.037); (3) in MnSOD Ala-9Val, using Ala-Ala homozygotes as reference category, a protective effect for Ala-Val (OR=0.37, 95% CI: 0.17-0.79, P=0.009) and for Val carriers (OR=0.49, 95% CI: 0.24-1.00, P=0.047). 18180754 2008
Drug-induced tardive dyskinesia
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
0.090 GeneticVariation BEFREE Evidence from pooled data for genetic association with tardive dyskinesia (TD) showed (1) in COMT(val158met), using Val-Val homozygotes as reference category, a protective effect for Val-Met heterozygotes (OR=0.63, 95% CI: 0.46-0.86, P=0.004) and Met carriers (OR=0.66, 95% CI: 0.49-0.88, P=0.005); (2) in Taq1A in DRD2, using the A1 variant as reference category, a risk-increasing effect for the A2 variant (OR=1.30, 95% CI: 1.03-1.65, P=0.026), and A2-A2 homozygotes using A1-A1 as reference category (OR=1.80, 95% CI: 1.03-3.15, P=0.037); (3) in MnSOD Ala-9Val, using Ala-Ala homozygotes as reference category, a protective effect for Ala-Val (OR=0.37, 95% CI: 0.17-0.79, P=0.009) and for Val carriers (OR=0.49, 95% CI: 0.24-1.00, P=0.047). 18180754 2008
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
0.020 GeneticVariation BEFREE Furthermore, we find evidence for an association between Ala-9Val (MnSOD) and TDof, but not TDlt. 20041472 2010
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.010 GeneticVariation BEFREE Genotypic association of both Val-9Ala and Ile58Thr polymorphisms with cervical cancer and breast cancer of these patients comparing to healthy women was not statistically significant (p<0.05). 23886214 2013
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE Genotypic association of both Val-9Ala and Ile58Thr polymorphisms with cervical cancer and breast cancer of these patients comparing to healthy women was not statistically significant (p<0.05). 23886214 2013
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.010 GeneticVariation BEFREE Genotypic association of both Val-9Ala and Ile58Thr polymorphisms with cervical cancer and breast cancer of these patients comparing to healthy women was not statistically significant (p<0.05). 23886214 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.050 GeneticVariation BEFREE Genotypic association of both Val-9Ala and Ile58Thr polymorphisms with cervical cancer and breast cancer of these patients comparing to healthy women was not statistically significant (p<0.05). 23886214 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.050 GeneticVariation BEFREE Genotypic association of both Val-9Ala and Ile58Thr polymorphisms with cervical cancer and breast cancer of these patients comparing to healthy women was not statistically significant (p<0.05). 23886214 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.020 GeneticVariation BEFREE In addition, both alleles of the Ala9Val polymorphism in the MTS of MnSOD were equally distributed between German PD patients and controls excluding this gene variant as a risk factor for PD in Caucasian subjects. 10049782 1999
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.010 GeneticVariation BEFREE In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-type allele in SOD2 (Ala9Val; P=.002 and P=.013, respectively), UCP1 (-112 T>G, P=.012 and P=.009; Ala64Thr, P=.015 and P=.004), NOS3 (Glu298Asp, P=.002 and P=.009) and GSTP1 (Ile105Val, P=.003 and P=.004) genes with development of CRI. 18413200 2009
Chronic Kidney Insufficiency
CUI: C0403447
Disease: Chronic Kidney Insufficiency
0.010 GeneticVariation BEFREE In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-type allele in SOD2 (Ala9Val; P=.002 and P=.013, respectively), UCP1 (-112 T>G, P=.012 and P=.009; Ala64Thr, P=.015 and P=.004), NOS3 (Glu298Asp, P=.002 and P=.009) and GSTP1 (Ile105Val, P=.003 and P=.004) genes with development of CRI. 18413200 2009