TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation disease BEFREE Crossing IP<sub>3</sub>R-LacZ mice with mice hypomorphic for Tbx1 alleles revealed that PTA of Tbx1 mutants may result from agenesis or hypoplasia of the pulmonary trunk; thus, the left and right central to peripheral PAs connect directly to the dorsal side of the truncus arteriosus in these mutants. 31758944 2020
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation disease BEFREE Histological analysis of Tbx1-knockout palate with complete cleft palate at postnatal day 1 showed aplasia of secondary palates associated with a small mandible and a small tongue compared to wild type littermates. 30121012 2018