Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.020 GeneticVariation phenotype BEFREE These findings indicate a critical role of serotonin in the maturation of brain systems that modulate emotional function in the adult and suggest a developmental mechanism to explain how low-expressing 5-HTT promoter alleles increase vulnerability to psychiatric disorders. 15514160 2004
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.020 GeneticVariation phenotype BEFREE A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. 22921522 2013
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome
0.010 GeneticVariation disease BEFREE However, we found a significant interaction effect of the SLC6A4 promoter polymorphism (5-HTTLPR) and DRD2 exon 8 single nucleotide polymorphism rs6276 on AWS and/or DT history (P = 0.009), which became more significant after adjustment for lifetime maximum number of drinks consumed per 24 hours (P < 0.001). 20002020 2010
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
0.010 GeneticVariation disease BEFREE Studies suggest that the short allele of the 5-HTT promoter (5-HTTPR) site can adversely influence the antidepressant response to SSRIs, and is associated with anxiety-related traits, depression, and impulsive disorders such as alcohol abuse. 12083964 2001
CUI: C0001957
Disease: Alcohol Withdrawal Delirium
Alcohol Withdrawal Delirium
0.010 GeneticVariation disease BEFREE However, we found a significant interaction effect of the SLC6A4 promoter polymorphism (5-HTTLPR) and DRD2 exon 8 single nucleotide polymorphism rs6276 on AWS and/or DT history (P = 0.009), which became more significant after adjustment for lifetime maximum number of drinks consumed per 24 hours (P < 0.001). 20002020 2010
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.060 PosttranslationalModification disease BEFREE Results did not reveal any association between SLC6A4 promoter methylation variation and threat-related amygdala activation in HCs or individuals with AD. 31008507 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.060 GeneticVariation disease BEFREE The findings in this meta-analysis suggest that the SLC6A4 promoter polymorphism is not associated with alcohol dependence. 25710844 2015
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.060 GeneticVariation disease BEFREE The 5-HTT promoter genotype was determined by a PCR-based method in 114 late onset (type 1) non-violent alcoholics, 51 impulsive violent recidivistic offenders with early onset alcoholism (type 2), and 54 healthy controls. 10483057 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.060 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: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.060 GeneticVariation disease BEFREE The short (S) allele of the serotonin transporter gene promoter polymorphism (5-HTTLPR) contributes to the risk of alcohol dependence and co-occurring clinical features. 18364363 2008
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.060 GeneticVariation disease BEFREE A polymorphism in the serotonin transporter gene SLC6A4 promoter region appears related to differential treatment response to sertraline depending on the subject's age of onset of alcoholism. 22587755 2012
CUI: C0002020
Disease: Alexithymia
Alexithymia
0.010 GeneticVariation phenotype BEFREE Serotonin transporter gene promoter polymorphism and alexithymia. 22222552 2012
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.010 GeneticVariation disease BEFREE These results suggested that the genetic variance of the serotonin transporter gene promoter contributed to the susceptibility of AN. 19708070 2010
CUI: C0003467
Disease: Anxiety
Anxiety
0.060 GeneticVariation disease BEFREE A polymorphism in the human serotonin transporter gene promoter (5-HTTLPR) is associated with anxiety and increased risk for developing depression in the face of adversity. 15302939 2004
CUI: C0003467
Disease: Anxiety
Anxiety
0.060 GeneticVariation disease BEFREE Human studies have suggested an association between a variable length polymorphism in the serotonin transporter gene promoter region and vulnerability to anxiety and depression. 17931429 2007
CUI: C0003467
Disease: Anxiety
Anxiety
0.060 GeneticVariation disease 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: C0003467
Disease: Anxiety
Anxiety
0.060 Biomarker disease BEFREE A pilot study for determination of anxiety related SLC6A4 promoter "S" and "L" alleles in healthy Turkish athletes. 28719342 2017
CUI: C0003467
Disease: Anxiety
Anxiety
0.060 GeneticVariation disease BEFREE A deletion/insertion polymorphism within the 5-HT transporter (5-HTT) promoter gene (5-HTT gene-linked polymorphic region, 5-HTTLPR) is thought to be associated with several psychopathological phenotypes related to disturbed impulse control, anxiety and depression. 15211560 2004
CUI: C0003467
Disease: Anxiety
Anxiety
0.060 GeneticVariation disease BEFREE The low-expressing allele of the 5-HTT promoter polymorphism (HTTLPR) is associated with anxiety and with greater amygdala and other regional responses to emotional. 16595858 2006
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear
0.010 GeneticVariation disease BEFREE We now report that individuals with one or two copies of the short allele of the serotonin transporter (5-HTT) promoter polymorphism, which has been associated with reduced 5-HTT expression and function and increased fear and anxiety-related behaviors, exhibit greater amygdala neuronal activity, as assessed by BOLD functional magnetic resonance imaging, in response to fearful stimuli compared with individuals homozygous for the long allele. 12130784 2002
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.070 GeneticVariation group BEFREE The low-expressing allele of the 5-HTT promoter polymorphism (HTTLPR) is associated with anxiety and with greater amygdala and other regional responses to emotional. 16595858 2006
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.070 GeneticVariation group BEFREE A deletion/insertion polymorphism within the 5-HT transporter (5-HTT) promoter gene (5-HTT gene-linked polymorphic region, 5-HTTLPR) is thought to be associated with several psychopathological phenotypes related to disturbed impulse control, anxiety and depression. 15211560 2004
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.070 Biomarker group BEFREE A pilot study for determination of anxiety related SLC6A4 promoter "S" and "L" alleles in healthy Turkish athletes. 28719342 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.070 GeneticVariation group BEFREE A polymorphism in the human serotonin transporter gene promoter (5-HTTLPR) is associated with anxiety and increased risk for developing depression in the face of adversity. 15302939 2004
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.070 GeneticVariation group BEFREE Human studies have suggested an association between a variable length polymorphism in the serotonin transporter gene promoter region and vulnerability to anxiety and depression. 17931429 2007