TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763330682
rs763330682
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.010 GeneticVariation BEFREE In the present study, we first examined metallothioneins (MTs), known to bind copper ions and decrease oxidative toxicity, and found a twofold increase in MTs in the spinal cord of the SOD1 transgenic mice with a FALS-linked mutation (G93A), but not in the spinal cord of wild-type SOD1 transgenic mice. 11298796 2001