TLN1, talin 1, 7094

N. diseases: 48; N. variants: 2
Disease: Deficiency of butyryl-CoA dehydrogenase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.010 GeneticVariation disease BEFREE We identified a rare heterozygous missense variant within a highly conserved β-integrin-binding domain of TLN1 segregating with familial SCAD. 30888838 2019