rs137852692
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
|
0.800 |
GeneticVariation |
UNIPROT |
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
|
24714694 |
2014 |
rs137852692
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
|
15955952 |
2005 |
rs137852692
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
|
0.800 |
GeneticVariation |
UNIPROT |
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
|
15289765 |
2004 |
rs137852692
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
|
0.800 |
GeneticVariation |
UNIPROT |
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
|
11854318 |
2002 |
rs137852692
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
|
0.800 |
GeneticVariation |
UNIPROT |
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
|
11854319 |
2002 |
rs137852692
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs2076751
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Age at menarche
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Elucidating the genetic architecture of reproductive ageing in the Japanese population.
|
29773799 |
2018 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
G |
0.700 |
CausalMutation |
CLINVAR |
Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.
|
28677170 |
2017 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.
|
28677170 |
2017 |
rs1555349214
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.
|
28677170 |
2017 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Benign Hereditary Chorea: An Update.
|
26196025 |
2015 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
G |
0.700 |
CausalMutation |
CLINVAR |
Benign Hereditary Chorea: An Update.
|
26196025 |
2015 |
rs1555349214
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Benign Hereditary Chorea: An Update.
|
26196025 |
2015 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
G |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
|
24714694 |
2014 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
|
24714694 |
2014 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
|
24930029 |
2014 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
|
24930029 |
2014 |
rs1555349214
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
|
24930029 |
2014 |
rs1555349214
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
|
24714694 |
2014 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
|
23911641 |
2013 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
G |
0.700 |
CausalMutation |
CLINVAR |
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
|
23911641 |
2013 |
rs1555349214
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
|
23911641 |
2013 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
G |
0.700 |
CausalMutation |
CLINVAR |
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
|
22832740 |
2012 |
rs1555349184
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
|
22832740 |
2012 |
rs1555349214
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
|
22832740 |
2012 |