TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
Disease: Pervasive Development Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.020 GeneticVariation group BEFREE Mutations in <i>Tbr1</i>, a high-confidence ASD (autism spectrum disorder)-risk gene encoding the transcriptional regulator TBR1, have been shown to induce diverse ASD-related molecular, synaptic, neuronal, and behavioral dysfunctions in mice. 31680851 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.020 Biomarker group BEFREE The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum. 29288087 2018