TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: Jarcho-Levin syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 GeneticVariation disease BEFREE Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. 27861764 2017
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 GeneticVariation disease BEFREE Lefebvre et al in this journal reported that 2 patients with spondylocostal dysostosis (SCD), a rare skeletal dysplasia affecting spine and ribs also have TBX6 mutations: 1 carried the microdeletion and a rare missense variant, and another 2 rare missense variants. 28990171 2017
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.520 Biomarker disease GENOMICS_ENGLAND