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 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 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 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 		A 0.800 CausalMutation CLINVAR
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 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
dbSNP: rs137852693
rs137852693
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 0.700 CausalMutation CLINVAR
dbSNP: rs137852693
rs137852693
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0393584
Disease:
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
dbSNP: rs137852694
rs137852694
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0393584
Disease:
Benign Hereditary Chorea 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1474322770
rs1474322770
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1837218
Disease:
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
dbSNP: rs1474322770
rs1474322770
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0008925
Disease:
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
dbSNP: rs1474322770
rs1474322770
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0749420
Disease:
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
dbSNP: rs1474322770
rs1474322770
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0008297
Disease:
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
dbSNP: rs1474322770
rs1474322770
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C2981150
Disease:
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
dbSNP: rs1555349146
rs1555349146
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0393584
Disease:
Benign Hereditary Chorea 		G 0.700 CausalMutation CLINVAR
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 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 19336474 2009
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. 21292530 2011
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 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
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 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765 2004
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 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: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1. 7635972 1995
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: clinical, genetic, and pathological findings. 12891678 2003
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. 21292530 2011
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