rs80356718, TARDBP

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
0.700 CausalMutation CLINVAR
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.010 GeneticVariation BEFREE The p.N267S heterozygous mutation was detected in one sporadic PD patient. 29801890 2018
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE The TDP-43 p.N267S substitution has been previously implicated in both amyotrophic lateral sclerosis and behavioral variant frontotemporal dementia. 23231971 2013
Behavioral variant of frontotemporal dementia
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
0.010 GeneticVariation BEFREE The TDP-43 p.N267S substitution has been previously implicated in both amyotrophic lateral sclerosis and behavioral variant frontotemporal dementia. 23231971 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 GeneticVariation BEFREE Our findings widen the phenotypic presentation for the TDP-43 p.N267S substitution and support a possible role for rare TDP-43 mutations presenting with Parkinson's disease. 23231971 2013