rs4680, COMT;MIR4761

N. diseases: 249
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE A common amino-acid polymorphism in COMT, valine-108-methionine, results in a low activity form of the enzyme which we hypothesised may influence susceptibility to IPD. 8941353 1996
Nonorganic psychosis
CUI: C0349204
Disease: Nonorganic psychosis
0.100 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
0.100 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
Psychotic Disorders
CUI: C0033975
Disease: Psychotic Disorders
0.100 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.100 GeneticVariation BEFREE It exists as common high and low activity alleles in the population (determined by a valine 158 methionine polymorphisms), and high red blood cell activity of COMT has previously been associated with schizophrenia. 9323320 1997
MAJOR AFFECTIVE DISORDER 8
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
0.010 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
MAJOR AFFECTIVE DISORDER 4
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
0.010 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
MAJOR AFFECTIVE DISORDER 1
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
0.010 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
MAJOR AFFECTIVE DISORDER 6
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
0.010 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
MAJOR AFFECTIVE DISORDER 9
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
0.010 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
MAJOR AFFECTIVE DISORDER 7
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
0.010 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
MAJOR AFFECTIVE DISORDER 2
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
0.010 GeneticVariation BEFREE Because of its role in catecholamine metabolism and several lines of evidence pointing to a locus for psychosis near the COMT gene on chromosome 22q11, we have analysed the COMT Val158Met polymorphism as a candidate susceptibility factor for bipolar affective disorder. 9352569 1997
Obsessive-Compulsive Disorder
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
0.090 GeneticVariation BEFREE This polymorphism (valine to methionine at codon 158) has been previously reported to influence the activity of COMT by three to four-fold and has recently been reported to be associated with OCD.1 We tested for linkage using an autosomal dominant model with reduced penetrance and non-parametric methods. 10523824 1999
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE A valine-108-methionine polymorphism in exon 4 of the catechol-O-methyltransferase (COMT) gene causes a 3- to 4-fold reduction in enzyme activity and has been associated with an increased risk of breast cancer. 11142424 2000
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE A valine-108-methionine polymorphism in exon 4 of the catechol-O-methyltransferase (COMT) gene causes a 3- to 4-fold reduction in enzyme activity and has been associated with an increased risk of breast cancer. 11142424 2000
Gilles de la Tourette syndrome
CUI: C0040517
Disease: Gilles de la Tourette syndrome
0.010 GeneticVariation BEFREE We investigated both the role of the insertion/deletion polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) and that of the Val-158-Met substitution in the catechol-O-methyl-transferase (COMT) gene in conferring susceptibility to TS. 11166081 2000
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Relationship between the Val158Met polymorphism of catechol O-methyl transferase and breast cancer. 11434504 2001
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.100 GeneticVariation BEFREE The results failed to show significant association between val158met polymorphism and schizophrenia, violence or suicide. 11150892 2001
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE To date, three studies in Caucasians and one study in Chinese have been conducted to determine the association with breast cancer risk of a functional polymorphism (G-to-A, Val158Met) of this enzyme, but the results were inconsistent. 11706521 2001
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE To date, three studies in Caucasians and one study in Chinese have been conducted to determine the association with breast cancer risk of a functional polymorphism (G-to-A, Val158Met) of this enzyme, but the results were inconsistent. 11706521 2001
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Several studies have indicated that the val108met COMT polymorphism, which results in a 3-4-fold decrease in activity, is associated with increased breast cancer risk. 11577006 2001
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Relationship between the Val158Met polymorphism of catechol O-methyl transferase and breast cancer. 11434504 2001
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Several studies have indicated that the val108met COMT polymorphism, which results in a 3-4-fold decrease in activity, is associated with increased breast cancer risk. 11577006 2001
Anorexia Nervosa
CUI: C0003125
Disease: Anorexia Nervosa
0.060 GeneticVariation BEFREE Catechol-O-methyltransferase (COMT) is a candidate gene for mediating susceptibility to AN since it is involved in the dopamine catabolism and because its functional polymorphism (Val/Met 158) determines high (H) and low (L) enzymatic activity alleles. 11317231 2001
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Overall, we observed no significant association of PD with the DAT1-3'-variable numbers of tandem repeats, the MAO-B-(GT)(n), and the COMT-Val108Met gene polymorphisms in a sample of 319 unrelated PD cases and 196 control subjects. 12465073 2002