NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Benign Hereditary Chorea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 Biomarker disease BEFREE A highly selective chemosensor BHC ((E)-N-benzhydryl-2-((2-hydroxynaphthalen-1-yl)methylene)hydrazine-1-carbothioamide) for detecting indium(III) was synthesized. 30251064 2018
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE We report on a three-generation Italian family, with 6 subjects presenting BHC and harboring a genomic deletion adjacent to NKX2-1 and including the gene MBIP, recently proposed to be relevant for the pathogenesis of brain-lung-thyroid syndrome. 29621620 2018
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE A genetic analysis revealed an interstitial deletion that included two enhancer regions of NKX2-1, providing genetic confirmation of BHC. 29289388 2018
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease UNIPROT Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. 26723978 2016
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. 26723978 2016
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. 26085604 2015
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE A heterozygous mutation of the TITF1/NKX2-1 gene (14q13) was detected in both patients, allowing the diagnosis of benign hereditary chorea (BHC). 25412988 2015
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease UNIPROT A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome. 24453141 2014
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. 21982616 2012
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 Biomarker disease BEFREE Microdeletions of movement disorder genes including epsilon-sarcoglycan (SGCE) and thyroid transcription factor-1 (TITF1) have been described in patients with myoclonus dystonia and benign hereditary chorea respectively. 22515636 2012
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE We analysed clinical, genetic findings and follow-up data in 28 NKX2-1 mutated BHC patients from 13 families. 22832740 2012
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 Biomarker disease BEFREE In 2002, a candidate gene, thyroid transcription factor (TITF-1), was identified to cause at least some cases of BHC. 21496579 2011
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE Defects of the NKX2-1 gene, encoding thyroid transcription factor-1, cause brain-thyroid-lung syndrome (MIM 610978), characterised by benign hereditary chorea, congenital hypothyroidism and respiratory disease. 20584796 2011
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE Mutations in the thyroid transcription factor-1 (TITF-1) gene have been identified in some BHC families. 18661567 2008
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE Thus, we have identified a new mutation in the TTF-1 coding gene in a patient with benign hereditary chorea. 17765926 2008
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 Biomarker disease BEFREE Since 2002, mutations in the thyroid transcription factor (TITF-1) gene have been identified as resulting in some cases of BHC. 17702033 2007
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea. 16830318 2006
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. 17044090 2006
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease UNIPROT A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 15955952 2005
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family. 16220345 2005
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GermlineCausalMutation disease ORPHANET A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family. 16220345 2005
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GeneticVariation disease BEFREE A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 15955952 2005
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 Biomarker disease BEFREE There was a loss of most TITF-1-mediated striatal interneurons in the BHC specimen compared to four matched control brains. 15986422 2005
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 Biomarker disease GENOMICS_ENGLAND Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765 2004
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.800 GermlineCausalMutation disease ORPHANET Benign hereditary chorea: clinical, genetic, and pathological findings. 12891678 2003