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 |
|
|
|
rs863225300
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
|
18788921 |
2008 |
rs137852693
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555349218
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1566615444
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776707
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
GCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776708
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776709
|
NKX2-1;SFTA3;NKX2-1-AS1
|
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|