rs4680, COMT;MIR4761

N. diseases: 249
Disease: 22q11 Deletion Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
22q11 Deletion Syndrome
CUI: C2936346
Disease: 22q11 Deletion Syndrome
0.020 GeneticVariation 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
22q11 Deletion Syndrome
CUI: C2936346
Disease: 22q11 Deletion Syndrome
0.020 GeneticVariation BEFREE No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 16513880 2006