Disease: Frontotemporal dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1251696640
rs1251696640
Entrez Id: 7072;54980
Gene Symbol: TIA1;C2orf42
TIA1;C2orf42
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE We found a novel heterozygous missense mutation (c.973A>G, p.N325D) in a sporadic ALS patient, which suggests that TIA1 LCD mutations are not common in Chinese ALS/ALS-FTD. 29699721 2018