rs80358249, TNNT1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEMALINE MYOPATHY 5
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
0.710 GeneticVariation BEFREE The truncated slow TNNT1 (TnT) fragment (p.Glu180Ter) was undetectable in ANM muscle, reflecting its rapid proteolysis and clearance from sarcoplasm. 29931346 2018
NEMALINE MYOPATHY 5
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
0.710 CausalMutation CLINVAR Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. 27429059 2016
NEMALINE MYOPATHY 5
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
0.710 CausalMutation CLINVAR Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. 15665378 2005
NEMALINE MYOPATHY 5
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
0.710 CausalMutation CLINVAR Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. 12732643 2003
NEMALINE MYOPATHY 5
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
0.710 CausalMutation CLINVAR A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. 10952871 2000
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
0.700 CausalMutation CLINVAR