TPH2, tryptophan hydroxylase 2, 121278

N. diseases: 137; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 Biomarker disease BEFREE For example, BALB/c mice carry a loss-of-function single nucleotide polymorphism (SNP; C1473 G) in tryptophan hydroxylase 2 (Tph2), which encodes the brain-specific isoform of the rate-limiting enzyme for serotonin synthesis, and these mice frequently have been used to model symptoms of ASD. 29935278 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 Biomarker disease BEFREE Our findings indicate that certain missense variants in the C. elegans orthologs of human CACNA1D, CHD7, CHD8, CUL3, DLG4, GLRA2, NAA15, PTEN, SYNGAP1 and TPH2 impact neurodevelopment and movement functions, elevating these genes as candidates for future study into ASD. 31220273 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 Biomarker disease BEFREE Overall results of the present study indicate likely involvement of ITGB3 and TPH2 in the pathophysiology of ASD in the Indian population. 23628433 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 GeneticVariation disease BEFREE These results suggest that TPH2 polymorphisms influence the phenotypic impairments of ASD and enhance ASD susceptibility. 22698779 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 GeneticVariation disease BEFREE A detailed association analysis between the tryptophan hydroxylase 2 (TPH2) gene and autism spectrum disorders in a Japanese population. 22361444 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 GeneticVariation disease BEFREE A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. 20446882 2010