Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.070 GeneticVariation group BEFREE Nevertheless, it showed that respondents with s/s genotype of the 44-bp polymorphism in the 5-HTT (SLC6A4) promoter region had the highest average anxiety levels both as a state and as a trait. 25547397 2014
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.070 GeneticVariation group BEFREE The main genetic finding concerns the serotonin transporter gene promoter polymorphisms, the long variant of which seems to be related to a positive response to therapy in mood disorders and could also have a role in the treatment of anxiety disorders. 19060722 2009
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.050 GeneticVariation disease BEFREE In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cys23Ser polymorphism do not contribute to the supposed common genetic predisposition of ADHD and alcohol dependence. 14574222 2003
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.050 GeneticVariation disease BEFREE Because the development of behavioral and emotional regulation depends heavily both on the child's experience within the family context and the child's construals of that experience, children's appraisals of inter-parental conflict are a compelling candidate potentiator of the effects of variation within the serotonin transporter gene promoter polymorphism (5HTTLPR) on liability for ADHD. 20398347 2010
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.050 GeneticVariation disease BEFREE The effect of serotonin transporter gene promoter polymorphism on adolescent and adult ADHD symptoms and educational attainment: a longitudinal study. 22986128 2013
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.050 PosttranslationalModification disease BEFREE In 102 children with ADHD (age 6-15 years), the methylation status of the SLC6A4 promoter was measured. 26017091 2015
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.050 GeneticVariation disease BEFREE We previously demonstrated that the polymorphisms of the serotonin transporter gene promoter and regions of variable number of tandem repeats were involved in the pathogenesis of ADHD. 12606840 2003
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE Self-injury in ASD may be associated with a specific genotype of the serotonin transporter gene promoter region. 25446464 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE For example, a functional polymorphism of the serotonin transporter gene promoter region (5HTTLPR long/short polymorphism) has been reported to confer risk for ASDs, and to affect cortical grey matter volume in young children. 19369912 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 GeneticVariation disease BEFREE The SLC6A4 promoter polymorphism 5-HTTLPR influences cerebral cortical gray matter volumes in young male children with autism. 17548752 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 GeneticVariation disease BEFREE Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. 10686565 2000
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 GeneticVariation disease BEFREE We have examined the effects of the serotonin transporter gene (5-HTT, locus SLC6A4) promoter polymorphism (5-HTTLPR) on platelet 5-HT physiology in autism. 12232775 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 GeneticVariation disease BEFREE Serotonin transporter gene promoter polymorphism and autism: a family-based genetic association study in Japanese population. 16481140 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.040 GeneticVariation disease BEFREE We raise the possibility that the 10R allele of the SLC6A3 repeat polymorphism and the short allele of the SLC6A4 promoter variant constitute risk factors for irritable-aggressive and anxious-dysthymic subtypes of BD, respectively. 18826446 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.040 GeneticVariation disease BEFREE We did not detect an association between bipolar disorder and the 5-HTT promoter polymorphism in this sample. 11018311 2000
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.040 PosttranslationalModification disease BEFREE Quantitative methylation specific PCR (qMSP) was used to assess the degree of CpG methylation of 5-HTT promoter in 105 post-mortem brains (35 controls, 35 SCZ and 35 BD) and 100 saliva samples (30 controls, 30 SCZ, 20 BD and 20 first degree relatives of SCZ or BD). 24411530 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.040 GeneticVariation disease BEFREE Interaction between SLC6A4 promoter variants and childhood trauma on the age at onset of bipolar disorders. 26542422 2015
CUI: C0006370
Disease: Bulimia
Bulimia 		0.010 GeneticVariation disease BEFREE Serotonin transporter gene promoter polymorphism affects the severity of binge eating in general population. 19853632 2010
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 GeneticVariation group BEFREE Replication in this study's control group of our prior finding that 5HTTLPR alleles associated with Hi activity are associated with increased CVR to an emotion recall stressor strengthens the case that this association is real and could be partially responsible for the increased cardiovascular disease observed in persons carrying the 5HTTLPR L allele. 21364197 2011
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 GeneticVariation group BEFREE Both the 5HTTLPR long allele and low SES, particularly during childhood, are associated with increased CVR to mental stress, which could account, at least in part, for the increased cardiovascular disease risk associated with these characteristics. 18158371 2008
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 PosttranslationalModification group BEFREE Higher SLC6A4 promoter methylation status was independently associated with PSD both at 2 weeks and more prominently at 1 year after stroke, and was significantly associated with the worsening of depressive symptoms over one year. 23702251 2013
CUI: C0008060
Disease: child abuse behavior
child abuse behavior 		0.010 GeneticVariation phenotype BEFREE The serotonin transporter gene promoter polymorphism (5HTTLPR) and child abuse have been associated with an increased risk for depression. 22311265 2012
CUI: C0400821
Disease: Colitis, Microscopic
Colitis, Microscopic 		0.010 GeneticVariation disease BEFREE This study aimed to evaluate the association between the serotonin transporter gene promoter polymorphism (5-HTTLPR) and 5-HT concentration in microscopic colitis (MC) and ulcerative colitis (UC) patients. 25532499 2015
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.100 GeneticVariation phenotype BEFREE The serotonin transporter gene (SLC6A4) promoter polymorphism (5-HTTLPR) has been associated with depression, but most consistently in the context of environmental stress. 17460615 2008
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.100 GeneticVariation phenotype BEFREE The serotonin transporter gene promoter polymorphism (5HTTLPR) and child abuse have been associated with an increased risk for depression. 22311265 2012