SLC6A4, solute carrier family 6 member 4, 6532

N. diseases: 440; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.530 Biomarker phenotype RGD [Chronic administration of serotonin transporter inhibitor (fluoxetine) decreases monocrotaline-induced pulmonary hypertension in rats]. 18074800 2008
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.100 Biomarker phenotype BEFREE Youth 5-HTTLPR did not interact with maternal nomothetic elevations in depressive symptoms (severity of symptoms compared to the sample as a whole). 23349106 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.700 Biomarker disease BEFREE Within the neuroticism dimension, the facet of depression was positively correlated with 5-HTT binding in the thalamus (p = .001). 17336939 2007
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.600 Biomarker disease BEFREE Within the neuroticism dimension, the facet of depression was positively correlated with 5-HTT binding in the thalamus (p = .001). 17336939 2007
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.400 Biomarker phenotype BEFREE Within the neuroticism dimension, the facet of depression was positively correlated with 5-HTT binding in the thalamus (p = .001). 17336939 2007
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.080 GeneticVariation disease BEFREE Within autism, rare hSERT coding variants associate with rigid-compulsive traits, suggesting both phenotypic overlap with OCD and a shared relationship with disrupted 5-HT signalling. 18957375 2009
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.600 GeneticVariation disease LHGDN Within autism, rare hSERT coding variants associate with rigid-compulsive traits, suggesting both phenotypic overlap with OCD and a shared relationship with disrupted 5-HT signalling. 18957375 2009
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.600 GeneticVariation disease BEFREE Within autism, rare hSERT coding variants associate with rigid-compulsive traits, suggesting both phenotypic overlap with OCD and a shared relationship with disrupted 5-HT signalling. 18957375 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease LHGDN Within autism, rare hSERT coding variants associate with rigid-compulsive traits, suggesting both phenotypic overlap with OCD and a shared relationship with disrupted 5-HT signalling. 18957375 2009
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.600 GeneticVariation disease BEFREE With respect to the frequency of the short allele at the SLC6A4 locus (5-HTTLPR), major depression in alcoholics is similar to major depression in nonalcoholics. 14506400 2003
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.600 GeneticVariation disease BEFREE With respect to the frequency of the short allele at the SLC6A4 locus (5-HTTLPR), major depression in alcoholics is similar to major depression in nonalcoholics. 14506400 2003
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.300 GeneticVariation disease BEFREE With regard to the transmission of 5-HTTLPR, the long allelic variant was preferentially transmitted in the ASD subjects. 17280648 2007
CUI: C0024517
Disease: Major depression, single episode
Major depression, single episode 		0.100 GeneticVariation disease BEFREE With a translational approach, we studied the effect of 5-HTTLPR and rs334558 on antidepressant response to sleep deprivation in a unique sample of 122 patients affected by a major depressive episode in course of bipolar disorder. 22119086 2012
CUI: C0086133
Disease: Depressive Syndrome
Depressive Syndrome 		0.310 GeneticVariation disease BEFREE With a 2-year prospective study of a community sample (N = 521) of older people (aged 65+), information on baseline number of health complaints, diagnosis of moderate/severe depressive syndrome (Geriatric Mental State), and genotypes for 5-HTTLPR and MTHFR C677T polymorphisms were ascertained. 19251870 2009
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		0.340 GeneticVariation disease BEFREE While, there was no genetic association between the 5-HTTLPR (LL, LS, SS), rs25331 (AA, AG, GG) and tri-allelic (SASA, LASG, LASA, LALG, LALA) genotypes (P = 0.26, 0.71 and 0.52, respectively) and SUD. 31809838 2020
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		0.310 GeneticVariation disease BEFREE While we found no association of the 5-HTTLPR variants with severity of cocaine abuse or any cocaine-related outcome measures, the data suggested that the 5-HTTLPR polymorphism may distinguish responders from non-responders to behavioral treatment in terms of alcohol use. 16109588 2005
CUI: C0013473
Disease: Eating Disorders
Eating Disorders 		0.100 GeneticVariation group BEFREE While the 5-HTTLPR genotype does not predict symptoms of eating disorder in general population, the s-allele, and especially the s/s genotype increases the risk for affective instability and symptom severity. 19853632 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 GeneticVariation disease BEFREE While our results remain to be replicated in other patient cohorts, we suggest that the genetic variations in the SLC6A4 gene contribute to poor survival in colorectal cancer patients. 22911682 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 GeneticVariation disease BEFREE While our results remain to be replicated in other patient cohorts, we suggest that the genetic variations in the SLC6A4 gene contribute to poor survival in colorectal cancer patients. 22911682 2012
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		0.080 GeneticVariation disease BEFREE While our results indicate no overall association between the SLC6A4 5-HTTLPR polymorphism and migraine among Europeans and Asians, gender and migraine aura status may have modifying roles among Europeans. 20959425 2010
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 GeneticVariation group BEFREE While our results indicate no overall association between the SLC6A4 5-HTTLPR polymorphism and migraine among Europeans and Asians, gender and migraine aura status may have modifying roles among Europeans. 20959425 2010
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.600 Biomarker disease BEFREE While further work is needed to identify the actual functional genetic variants involved, these results suggest that a relationship exists between genetic variation in HTR2A and either 5-HTT expression or central serotonergic transmission that influences the therapeutic response to 5-HTT inhibition in major depression. 20047709 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.600 Biomarker disease BEFREE While further work is needed to identify the actual functional genetic variants involved, these results suggest that a relationship exists between genetic variation in HTR2A and either 5-HTT expression or central serotonergic transmission that influences the therapeutic response to 5-HTT inhibition in major depression. 20047709 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		0.350 GeneticVariation phenotype BEFREE While effects of 5-HTTLPR and of a serotonergic multi-marker score (5-HTTLPR, TPH1(rs1800532), TPH2(rs4570625), HTR1A(rs6295) and HTR2A(rs6311)) on amygdala activation did not withstand correction for multiple regions of interest, we observed a strong correlation of the multi-marker score and habituation in the amygdala, DLPFC, and ACC. 29358097 2018