|
rs869320740
|
TTN;TTN-AS1
|
Hereditary Myopathy with Early Respiratory Failure
|
|
0.730 |
GeneticVariation |
BEFREE |
Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients.
|
23486992 |
2014 |
|
rs869320740
|
TTN;TTN-AS1
|
Hereditary Myopathy with Early Respiratory Failure
|
|
0.730 |
GeneticVariation |
BEFREE |
This proves that the p.C30071R mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups.
|
24444549 |
2014 |
|
rs869320740
|
TTN;TTN-AS1
|
Hereditary Myopathy with Early Respiratory Failure
|
|
0.730 |
GeneticVariation |
BEFREE |
Coexisting cardiac and skeletal muscle involvement is not uncommon in patients with HMERF arising due to the c.951434T>C; (p.Cys31712Arg) TTN mutation.
|
27511179 |
2016 |
|
rs281864931
|
TTN;TTN-AS1
|
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
|
|
0.710 |
GeneticVariation |
BEFREE |
The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation.
|
19911250 |
2010 |
|
rs869320740
|
TTN;TTN-AS1
|
Myofibrillar Myopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
Screening of 45 probands initially diagnosed as myofibrillar myopathy (MFM) but excluded based on molecular screening for the known MFM genes led to the identification of a previously reported TTN p.Cys30071Arg mutation in one patient.
|
23514108 |
2013 |
|
rs869320740
|
TTN;TTN-AS1
|
Myofibrillar Myopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified five new families with the p.C30071R mutation who were clinically similar to previously reported cases, and muscle pathology demonstrated diagnostic features of MFM.
|
23486992 |
2014 |
|
rs1284689627
|
TTN;TTN-AS1
|
Cardiomyopathy, Familial Idiopathic
|
|
0.010 |
GeneticVariation |
BEFREE |
Three missense heterozygous ANKRD1 mutations (P105S, V107L, and M184I) were identified in 4 DCM patients.
|
19608030 |
2009 |
|
rs140319117
|
TTN;TTN-AS1
|
Hereditary Myopathy with Early Respiratory Failure
|
|
0.010 |
GeneticVariation |
BEFREE |
Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients.
|
23486992 |
2014 |
|
rs2042996
|
TTN;TTN-AS1
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation |
BEFREE |
An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model).
|
28238063 |
2017 |
|
rs2042996
|
TTN;TTN-AS1
|
Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model).
|
28238063 |
2017 |
|
rs2042996
|
TTN;TTN-AS1
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model).
|
28238063 |
2017 |
|
rs2244492
|
TTN;TTN-AS1
|
Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
A strong association with clinical outcome were detected for the genes SMAD4 _rs3819122 with tumor size (OR = 0.45; 95 % CI 0.25-0.82; P = 0.009) and TTN_rs2244492 with estrogen receptor (OR = 0.45; 95 % CI 0.25-0.82; P = 0.009).
|
26920143 |
2016 |
|
rs2288563
|
TTN;TTN-AS1
|
Liver carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Variants near TTN and CCDC8 were associated with MKI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in HBV-related HCC patients.
|
28700999 |
2017 |
|
rs2291312
|
TTN;TTN-AS1
|
Parkinson Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Polygenic risk score using variants rs2230288 and rs2291312, however, was associated to PD with odds ratio of 2.7 (95% confidence interval 1.4-5.2; p < 2.56e-03).
|
31827228 |
2019 |
|
rs2303838
|
TTN;TTN-AS1
|
Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model).
|
28238063 |
2017 |
|
rs2303838
|
TTN;TTN-AS1
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model).
|
28238063 |
2017 |
|
rs2303838
|
TTN;TTN-AS1
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation |
BEFREE |
An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model).
|
28238063 |
2017 |
|
rs2562832
|
TTN;TTN-AS1
|
Liver carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Variants near TTN and CCDC8 were associated with MKI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in HBV-related HCC patients.
|
28700999 |
2017 |
|
rs267607158
|
TTN;TTN-AS1
|
Cardiomyopathy, Familial Idiopathic
|
|
0.010 |
GeneticVariation |
BEFREE |
To explore the novel disease gene for DCM, we examined CRYAB encoding alphaB-crystallin for mutation in the patients with DCM, since alphaB-crystallin was recently reported to associate with the heart-specific N2B domain and adjacent I26/I27 domain of titin/connectin, and we previously reported a N2B mutation, Gln4053ter, in DCM.
|
16483541 |
2006 |
|
rs267607158
|
TTN;TTN-AS1
|
Hypertrophic Cardiomyopathy
|
|
0.010 |
GeneticVariation |
BEFREE |
It was revealed that a hypertrophic cardiomyopathy-associated mutation (Ser3799Tyr) increased the binding to FHL2 protein, whereas a dilated cardiomyopathy-associated mutation (Gln4053ter) decreased the binding.
|
16465475 |
2005 |
|
rs267607158
|
TTN;TTN-AS1
|
Hypertrophic obstructive cardiomyopathy
|
|
0.010 |
GeneticVariation |
BEFREE |
It was revealed that a hypertrophic cardiomyopathy-associated mutation (Ser3799Tyr) increased the binding to FHL2 protein, whereas a dilated cardiomyopathy-associated mutation (Gln4053ter) decreased the binding.
|
16465475 |
2005 |
|
rs281864931
|
TTN;TTN-AS1
|
Temporomandibular Joint Dysfunction Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation.
|
19911250 |
2010 |
|
rs281864931
|
TTN;TTN-AS1
|
Temporomandibular Joint Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation.
|
19911250 |
2010 |
|
rs281864931
|
TTN;TTN-AS1
|
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation.
|
19911250 |
2010 |
|
rs368779151
|
TTN;TTN-AS1
|
Familial dilated cardiomyopathy
|
|
0.010 |
GeneticVariation |
BEFREE |
The study found that there is a missense mutation in the TTN gene, c.100126A>G (p.Thr33376Ala), in a family whose members suffer from familial dilated cardiomyopathy in Hubei province.
|
29109008 |
2018 |