TNNT1, troponin T1, slow skeletal type, 7138

N. diseases: 60; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease BEFREE A nonsense mutation at codon Glu180 of TNNT1 gene causes Amish nemaline myopathy (ANM), a recessively inherited disease with infantile lethality. 31148174 2019
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease BEFREE The truncated slow TNNT1 (TnT) fragment (p.Glu180Ter) was undetectable in ANM muscle, reflecting its rapid proteolysis and clearance from sarcoplasm. 29931346 2018
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 CausalMutation disease CLINVAR Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. 27429059 2016
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 Biomarker disease GENOMICS_ENGLAND Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. 27429059 2016
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease CLINVAR Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish. 25430424 2015
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 Biomarker disease GENOMICS_ENGLAND Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish. 25430424 2015
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease CLINVAR Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. 24689076 2014
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 Biomarker disease MGD The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). 24445317 2014
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease BEFREE The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). 24445317 2014
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 CausalMutation disease CLINVAR Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. 15665378 2005
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease BEFREE Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. 15665378 2005
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease BEFREE A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. 12732643 2003
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 CausalMutation disease CLINVAR Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. 12732643 2003
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GermlineCausalMutation disease ORPHANET We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1. 10952871 2000
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 GeneticVariation disease CLINVAR We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1. 10952871 2000
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 CausalMutation disease CLINVAR We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1. 10952871 2000
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.950 Biomarker disease CTD_human
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. 31604653 2019
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker disease BEFREE TNNT1 nemaline myopathy: natural history and therapeutic frontier. 29931346 2018
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion mutations in TNNT1 gene have been identified in NEM. 29178646 2017
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker disease GENOMICS_ENGLAND More TNNT1 NM mutations have been reported recently with similar recessive phenotypes. 27429059 2016
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE More TNNT1 NM mutations have been reported recently with similar recessive phenotypes. 27429059 2016
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish. 25430424 2015
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker disease GENOMICS_ENGLAND This report describes a novel pathogenic variant in the TNNT1 gene and represents a nemaline myopathy-causing variant in the TNNT1 gene outside of the Old Order Amish and Dutch ancestry. 25430424 2015
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). 24445317 2014