NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Tetralogy of Fallot ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease ORPHANET Genetic Origins of Tetralogy of Fallot. 29045289 2018
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 Biomarker disease MGD Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. 28352650 2017
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 PosttranslationalModification disease BEFREE Aberrant methylation statuses of the NKX2-5 gene body and HAND1 promoter regions are associated with the regulation of gene transcription in TOF patients and may play an important role in the pathogenesis of TOF. 24182332 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 AlteredExpression disease BEFREE Higher methylation levels of NKX2-5 and HAND1 and lower methylation levels of TBX20 were also observed in patients with TOF than in controls. 22672592 2012
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease BEFREE Numerous mutations in NKX2-5 gene have been reported in CHD patients, including atrial septal defect, ventricular septal defect (VSD) and tetrology of Fallot. 22824467 2012
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease BEFREE Our study shows no evidence of somatic NKX2-5, GATA4 and HAND1 mutations playing a role in the pathogenesis of TOF. 21519287 2011
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease BEFREE They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot. 17891434 2008
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454 2003
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease BEFREE Mutations in NKX2-5 have been found in families showing secundum ASD and atrioventricular (AV) conduction block and in some individuals with tetralogy of Fallot. 12798584 2003
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651 2001
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 GeneticVariation disease UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520 1999
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 Biomarker disease CTD_human
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 Biomarker disease GENOMICS_ENGLAND
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 Biomarker disease GENOMICS_ENGLAND