COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Disease: 22q11 Deletion Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 GeneticVariation disease BEFREE We studied whether a functional polymorphism in the COMT gene (Val(158) Met) influences striatal D(2/3) R binding ratios (D(2/3) R BP(ND) ) in 15 adults with 22q11 deletion syndrome and hemizygous for this gene, using single photon emission computed tomography and the selective D(2/3) radioligand [(123) I]IBZM. 21465565 2011
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 GeneticVariation disease BEFREE Twelve adults with 22q11DS with schizophrenia (SCZ+) and 22 adults with 22q11DS without schizophrenia (SCZ-) were genotyped for the COMT Val¹⁰⁸/¹⁵⁸ Met genotype. 21447540 2011
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 GeneticVariation disease BEFREE Additionally, the COMT gene maps to the commonly deleted region on chromosome 22q11 in 22q11 deletion syndrome (22q11DS), a disorder associated with a highly elevated risk for the development of psychosis. 17924258 2008
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 GeneticVariation disease BEFREE No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 16513880 2006
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 Biomarker disease BEFREE COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. 15935994 2005
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 GeneticVariation disease BEFREE We genotyped five polymorphisms at D22S941, D22S944, D22S264, and D22S311, and the COMT gene in the common 3Mbp deletion region associated with 22q11 deletion syndrome in 300 Japanese schizophrenics and 300 controls and identified one patient with 22q11 deletion (Arinami et al., 2001). 11705709 2001
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 ChromosomalRearrangement disease ORPHANET