Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.060 GeneticVariation BEFREE Although the conformation of DISC1 partial peptide with the schizophrenia-related mutation L607F in human or the corresponding L604F in mouse was essentially indistinguishable from the wild type (WT) as long as monitored by fluorescence, circular dichroism, ultracentrifugation, dynamic light scattering and nuclear magnetic resonance, the atomic force microscopy was able to detect their morphological distinctions. 30561706 2019
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.060 GeneticVariation BEFREE Our data revealed that the three SNPs are significantly associated with schizophrenia (rs2255349 C>T: confidence interval (CI), 2.115 to 3.268; P = 0.0000 OR: 2.629; rs2738864 C>T: CI, 1.538 to 2.339; P = 0.0000 OR: 1.897; rs6675281 C>T: CI, 2.788 to 4.662; P = 0.0009241 OR: 3.605). 30324622 2018
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.060 GeneticVariation BEFREE We sought to examine the effects of the DISC1 Leu(607) Phe polymorphism on brain activation in young healthy individuals at familial risk of bipolar disorder (n = 84), in a group of controls (n = 78), and in a group at familial risk of schizophrenia (n = 47), performing a language task. 22337479 2012
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.060 GeneticVariation BEFREE Three common missense variants of the Disrupted in Schizophrenia 1 (DISC1) gene, rs3738401 (Q264R), rs6675281 (L607F) and rs821616 (S704C), have been variably associated with the risk of schizophrenia. 20531374 2011
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.060 GeneticVariation BEFREE Schizophrenia risk-associated polymorphisms [non-synonymous SNPs rs821616 (Cys704Ser) and rs6675281 (Leu607Phe), and rs821597] were associated with the expression of Delta3 and Delta7Delta8. 19805229 2009
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.060 GeneticVariation BEFREE We investigated whether the DISC1 leu607phe polymorphism was associated with prefrontal gray matter volumes using magnetic resonance imaging in a cohort of patients with schizophrenia (N=19) and healthy volunteers (N=25) and positive and negative symptoms in 200 patients with schizophrenia. 18078707 2008
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE We found that one single nucleotide polymorphism (rs6675281) was associated with the risk of late-onset Alzheimer's disease (LOAD) in northern Han Chinese population. 27023224 2017
Mood Disorders
CUI: C0525045
Disease: Mood Disorders
0.010 GeneticVariation BEFREE In the Norwegian ADHD sample we also observed an association between the Phe607-variant of rs6675281 and a positive score on the Mood Disorder Questionnaire (MDQ; OR = 1.44, 95% CI 1.08-1.93, P = 0.01). 23389941 2013
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE In the Norwegian ADHD sample we also observed an association between the Phe607-variant of rs6675281 and a positive score on the Mood Disorder Questionnaire (MDQ; OR = 1.44, 95% CI 1.08-1.93, P = 0.01). 23389941 2013
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
0.010 GeneticVariation BEFREE We sought to examine the effects of the DISC1 Leu(607) Phe polymorphism on brain activation in young healthy individuals at familial risk of bipolar disorder (n = 84), in a group of controls (n = 78), and in a group at familial risk of schizophrenia (n = 47), performing a language task. 22337479 2012
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE We sought to examine the effects of the DISC1 Leu(607) Phe polymorphism on brain activation in young healthy individuals at familial risk of bipolar disorder (n = 84), in a group of controls (n = 78), and in a group at familial risk of schizophrenia (n = 47), performing a language task. 22337479 2012
positive and negative symptoms
CUI: C0871099
Disease: positive and negative symptoms
0.010 GeneticVariation BEFREE We investigated whether the DISC1 leu607phe polymorphism was associated with prefrontal gray matter volumes using magnetic resonance imaging in a cohort of patients with schizophrenia (N=19) and healthy volunteers (N=25) and positive and negative symptoms in 200 patients with schizophrenia. 18078707 2008