Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 0.960 None 0.909 1 0 1999 2018
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		disease 0.810 None 1.000 3 0 2003 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C3502353
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects
Atrial Septal Defect with Atrioventricular Conduction Defects 		disease 0.700 strong 1.000 2 0 2008 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease 0.430 None 1.000 2 0 2003 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.420 None 1.000 1 0 2006 2016
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		disease 0.400 None 1.000 1 0 2006 2006
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease 0.400 None 1.000 1 0 2014 2014
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		phenotype 0.400 None 1.000 1 0 2006 2006
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0685889
Disease: Splenic Hypoplasia
Splenic Hypoplasia 		disease 0.310 None 1.000 1 0 2012 2012
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease 0.300 None 1.000 2 0 2012 2013
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C2931574
Disease: Chromosome 5, monosomy 5q35
Chromosome 5, monosomy 5q35 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		disease 0.300 None 1.000 1 0 2014 2014