NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress ×
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