NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852692
rs137852692
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
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
dbSNP: rs137852692
rs137852692
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
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
dbSNP: rs137852692
rs137852692
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
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
dbSNP: rs137852692
rs137852692
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
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
dbSNP: rs137852692
rs137852692
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
0.800 GeneticVariation UNIPROT Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
dbSNP: rs137852692
rs137852692
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
A 0.800 CausalMutation CLINVAR
dbSNP: rs2076751
rs2076751
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1314691
Disease:
Age at menarche
C 0.700 GeneticVariation GWASCAT Elucidating the genetic architecture of reproductive ageing in the Japanese population. 29773799 2018
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
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
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Benign Hereditary Chorea: An Update. 26196025 2015
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders
G 0.700 CausalMutation CLINVAR Benign Hereditary Chorea: An Update. 26196025 2015
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders
A 0.700 CausalMutation CLINVAR Benign Hereditary Chorea: An Update. 26196025 2015
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
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
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
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
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. 23911641 2013
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders
G 0.700 CausalMutation CLINVAR NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. 23911641 2013
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders
A 0.700 CausalMutation CLINVAR NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. 23911641 2013
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
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
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
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