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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE Furthermore, after conducting with the quantitative scores in the Autism Diagnostic Interview-Revised, there were associations between restricted, repetitive, and stereotyped patterns of behavior (preoccupation with parts of objects or nonfunctional elements of materials) in ASD and SNPs in TPH2. 22698779 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 GeneticVariation disease BEFREE TPH2 alleles and haplotypes are not significantly associated in our sample with autism (rs4570625: TDT P = 0.27, and FBAT P = 0.35; rs4565946: TDT P = 0.45, and FBAT P = 0.55; haplotype P = 0.84), with any endophenotype, or with the presence/absence of prominent repetitive and stereotyped behaviors (motor stereotypies: P = 0.81 and 0.84, verbal stereotypies: P = 0.38 and 0.73 for rs4570625 and rs4565946, respectively). 17346350 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE Thus, it appears unlikely that the TPH1 and TPH2 genes play a significant role in the susceptibility to autism or to autism endophenotypes including sOCB and SSB. 16958027 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease CTD_human Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). 15768392 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 GeneticVariation disease BEFREE Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). 15768392 2005