rs104893904, NKX2-5

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
0.700 GeneticVariation UNIPROT Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
0.700 GeneticVariation UNIPROT Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. 15342699 2004
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454 2003
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454 2003
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651 2001
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520 1999
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520 1999
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
0.700 GeneticVariation UNIPROT Congenital heart disease caused by mutations in the transcription factor NKX2-5. 9651244 1998
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.010 GeneticVariation BEFREE Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). 25524324 2015
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). 25524324 2015
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). 25524324 2015
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.010 GeneticVariation BEFREE As a result, two heterozygous NKX2-5 mutations, including a previously reported p.E21Q and a novel p.T180A mutation, were identified in two families with AF transmitted in an autosomal dominant pattern. 24782644 2014