|
rs537209983
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Multinodular goiter
|
|
0.020 |
GeneticVariation |
BEFREE |
A missense mutation (1016C>T</span>) was identified in TITF-1/NKX2.1 that led to a mutant TTF-1 protein (A339V) in four of the 20 MNG/PTC patients (20%).
|
19176457 |
2009 |
|
rs537209983
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Papillary thyroid carcinoma
|
|
0.020 |
GeneticVariation |
BEFREE |
A missense mutation (1016C>T) was identified in TITF-1/NKX2.1 that led to a mutant TTF-1 protein (A339V) in four of the 20 MNG/PTC patients (20%).
|
19176457 |
2009 |
|
rs537209983
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Papillary thyroid carcinoma
|
|
0.020 |
GeneticVariation |
BEFREE |
The overexpression of A339</span>V TTF1 significantly promoted hormone-independent growth of the normal thyroid cells, representing a cause of MNG and/or PTC.</span>
|
25981745 |
2015 |
|
rs537209983
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Multinodular goiter
|
|
0.020 |
GeneticVariation |
BEFREE |
The overexpression of A339</span>V TTF1 significantly promoted hormone-independent growth of the normal thyroid cells, representing a cause of MNG and/or PTC.
|
25981745 |
2015 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Adenocarcinoma of lung (disorder)
|
|
0.020 |
GeneticVariation |
BEFREE |
Lentiviral-mediated somatic activation of oncogenic Kras and deletion of p53 in the lung epithelial cells of Kras(LSL-G12D/+);p53(flox/flox) mice initiates lung adenocarcinoma development.
|
21471965 |
2011 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Adenocarcinoma of lung (disorder)
|
|
0.020 |
GeneticVariation |
BEFREE |
Kras(G12D) and Nkx2-1 haploinsufficiency induce mucinous adenocarcinoma of the lung.
|
23143308 |
2012 |
|
rs137852693
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Benign Hereditary Chorea
|
|
0.010 |
GeneticVariation |
BEFREE |
Presented is a pedigree with infancy-onset benign hereditary chorea (BHC) caused by a novel nonsense mutation in exon 3 (523G-->T, E175X) of the TITF-1 (Nkx2.1) gene.
|
15955952 |
2005 |
|
rs1474322770
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Cleft palate, isolated
|
|
0.010 |
GeneticVariation |
BEFREE |
11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain.
|
9697705 |
1998 |
|
rs1474322770
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Cleft Palate
|
|
0.010 |
GeneticVariation |
BEFREE |
11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain.
|
9697705 |
1998 |
|
rs1474322770
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Thyroid Agenesis
|
|
0.010 |
GeneticVariation |
BEFREE |
11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain.
|
9697705 |
1998 |
|
rs1474322770
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choanal Atresia
|
|
0.010 |
GeneticVariation |
BEFREE |
11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain.
|
9697705 |
1998 |
|
rs1474322770
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Uranostaphyloschisis
|
|
0.010 |
GeneticVariation |
BEFREE |
11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain.
|
9697705 |
1998 |
|
rs753273268
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Next generation sequencing performed on the Ion Torrent platforms by the Ion Ampliseq Colon and Lung Cancer panel showed a similar genomic profile in both neoplastic sites with a concurrent KRAS G12C mutation.
|
25900221 |
2015 |
|
rs753273268
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Adenocarcinoma of lung (disorder)
|
|
0.010 |
GeneticVariation |
BEFREE |
Presence of the KRAS G12C mutation had 96% specificity and positive predictive value for lung adenocarcinoma, whereas G12R was 99% specific for pancreatic cancer with a positive predictive value of 86%.
|
23887294 |
2014 |
|
rs753273268
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Next generation sequencing performed on the Ion Torrent platforms by the Ion Ampliseq Colon and Lung Cancer panel showed a similar genomic profile in both neoplastic sites with a concurrent KRAS G12C mutation.
|
25900221 |
2015 |
|
rs753273268
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Carcinoma of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Next generation sequencing performed on the Ion Torrent platforms by the Ion Ampliseq Colon and Lung Cancer panel showed a similar genomic profile in both neoplastic sites with a concurrent KRAS G12C mutation.
|
25900221 |
2015 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Tumor Progression
|
|
0.010 |
GeneticVariation |
BEFREE |
Haploinsufficiency of Nkx2-1 enhanced Kras(G12D)-mediated tumor progression, but reduced EGFR(L858R)-mediated progression.
|
23143308 |
2012 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Mucinous Adenocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Kras(G12D) and Nkx2-1 haploinsufficiency induce mucinous adenocarcinoma of the lung.
|
23143308 |
2012 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Palatal Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an additional examination demonstrated an oncogenic KRAS mutation at codon 12 (p.G12D) in both palate tumor and in pleural effusion.
|
30634950 |
2019 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
The codon 12 G12D mutation was found; the same mutation was evident in the primary cancer of the colon and in its liver and lung metastasis.
|
20213843 |
2010 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Secondary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
The codon 12 G12D mutation was found; the same mutation was evident in the primary cancer of the colon and in its liver and lung metastasis.
|
20213843 |
2010 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Carcinogenesis
|
|
0.010 |
GeneticVariation |
BEFREE |
These data demonstrate that NKX2-1 functions in a context-dependent manner in lung tumorigenesis and inhibits Kras(G12D)-driven mucinous pulmonary adenocarcinoma.
|
23143308 |
2012 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kras(G12D), but not with oncogenic EGFR(L858R), caused pulmonary tumors in transgenic mice that were phenotypically similar to human mucinous adenocarcinomas.
|
23143308 |
2012 |
|
rs767808984
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Adenocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
These data demonstrate that NKX2-1 functions in a context-dependent manner in lung tumorigenesis and inhibits Kras(G12D)-driven mucinous pulmonary adenocarcinoma.
|
23143308 |
2012 |
|
rs863225300
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Impaired cognition
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment.
|
20544814 |
2010 |