Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 GeneticVariation disease BEFREE Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. 31604653 2019
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 Biomarker disease BEFREE TNNT1 nemaline myopathy: natural history and therapeutic frontier. 29931346 2018
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
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
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 Biomarker disease GENOMICS_ENGLAND More TNNT1 NM mutations have been reported recently with similar recessive phenotypes. 27429059 2016
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 GeneticVariation disease BEFREE More TNNT1 NM mutations have been reported recently with similar recessive phenotypes. 27429059 2016
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
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
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
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
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
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
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 GeneticVariation disease BEFREE A nonsense mutation at codon Glu180 in exon 11 of slow skeletal muscle troponin T (TnT) gene (TNNT1) causes an autosomal-recessive inherited nemaline myopathy. 15665378 2005
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 GeneticVariation disease LHGDN A nonsense mutation at codon Glu180 in exon 11 of slow skeletal muscle troponin T (TnT) gene (TNNT1) causes an autosomal-recessive inherited nemaline myopathy. 15665378 2005
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 Biomarker disease BEFREE Five genes have now been associated with nemaline myopathy: alpha-tropomyosin-3 (TPM3), alpha-actin (ACTA1), nebulin (NEB), beta-tropomysin (TPM2) and troponin T (TNNT1). 12805120 2003
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 Biomarker disease BEFREE Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. 12732643 2003
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 GeneticVariation disease BEFREE A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta-tropomyosin 2 gene. 11738357 2002
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
0.500 CausalMutation disease CLINVAR