Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747068278
rs747068278
TIA1 ; C2orf42
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		T 0.810 CausalMutation CLINVAR TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. 28817800

2017
dbSNP: rs747068278
rs747068278
TIA1 ; C2orf42
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		T 0.810 CausalMutation CLINVAR Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. 27282841

2016
dbSNP: rs747068278
rs747068278
TIA1 ; C2orf42
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		T 0.810 CausalMutation CLINVAR Within the conserved haplotype, we identified a single heterozygous mutation c.1150G>A (p.E384K) in T-cell intracellular antigen-1 (TIA1) in all WDM patients investigated (n = 43). 23348830

2013
dbSNP: rs747068278
rs747068278
TIA1 ; C2orf42
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		T 0.810 CausalMutation CLINVAR Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. 23401021

2013
dbSNP: rs747068278
rs747068278
TIA1 ; C2orf42
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		T 0.810 CausalMutation CLINVAR Genetic linkage of Welander distal myopathy to chromosome 2p13. 10482271

1999