TLN1, talin 1, 7094

N. diseases: 48; N. variants: 2
Disease: Thrombasthenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.010 Biomarker disease BEFREE LAD-III, which presents with bleeding similar to that in Glanzmann thrombasthenia and platelet dysfunction in addition to impaired leukocyte adhesion, is now known to be due to absence of KINDLIN-3, a cytoplasmic protein that acts cooperatively with TALIN-1 in activating β(1), β(2), and β(3) integrins. 23207660 2013