Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas. 28677170

2017
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Benign Hereditary Chorea: An Update. 26196025

2015
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 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
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. 24714694

2014
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. 23911641

2013
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 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
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Benign hereditary chorea: an update. 21292530

2011
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 19336474

2009
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765

2004
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Benign hereditary chorea: clinical, genetic, and pathological findings. 12891678

2003
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319

2002
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1. 7635972

1995