Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		0.740 CausalMutation CLINVAR TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. 28817800

2017
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		0.740 CausalMutation CLINVAR Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. 27282841

2016
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		0.740 CausalMutation CLINVAR The combined findings strongly suggest that the TIA1 mutation causes perturbed RNA splicing and cellular stress resulting in WDM. 23348830

2013
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		0.740 CausalMutation CLINVAR Immunofluorescence microscopy of WDM biopsies showed a focal increase of TIA1 in atrophic and vacuolated fibers. 23401021

2013
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		0.740 CausalMutation CLINVAR Genetic linkage of Welander distal myopathy to chromosome 2p13. 10482271

1999