NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		disease Disease or Syndrome 1 31 0.800 None 1.000 7 31 1998 2017
CUI: C3502353
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects
Atrial Septal Defect with Atrioventricular Conduction Defects 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 1 0.700 strong 1.000 3 1 2008 2017
CUI: C3280785
Disease: VENTRICULAR SEPTAL DEFECT 3
VENTRICULAR SEPTAL DEFECT 3 		disease Disease or Syndrome; Congenital Abnormality 1 2 0.500 moderate 1.000 2 2 2010 2011
CUI: C0238415
Disease: SCLERODERMA, PULMONARY
SCLERODERMA, PULMONARY 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 3 0.600 None 1.000 1 3 2006 2006
CUI: C0265843
Disease: Congenital atresia of aortic valve
Congenital atresia of aortic valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.100 None 0
CUI: C2931574
Disease: Chromosome 5, monosomy 5q35
Chromosome 5, monosomy 5q35 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 2 0.300 None 1.000 1 2007 2007
CUI: C2910126
Disease: Patent or persistent ostium secundum defect (type II)
Patent or persistent ostium secundum defect (type II) 		disease Disease or Syndrome 4 0.200 None 1.000 1 2017 2017
CUI: C2910127
Disease: Patent or persistent sinus venosus defect
Patent or persistent sinus venosus defect 		disease Disease or Syndrome 4 0.200 None 1.000 1 2017 2017
CUI: C0265881
Disease: Congenital hypoplasia of aortic arch
Congenital hypoplasia of aortic arch 		disease Cardiovascular Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C1969292
Disease: Thoracic aorta calcification
Thoracic aorta calcification 		phenotype Finding 4 0.100 None 0
CUI: C0521533
Disease: Atrial septal aneurysm
Atrial septal aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2009 2009
CUI: C1409792
Disease: Coronary sinus defect
Coronary sinus defect 		disease Congenital Abnormality 5 0.200 None 1.000 1 2017 2017
CUI: C0600125
Disease: Prolonged PR interval
Prolonged PR interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 5 0.100 None 0
CUI: C4025670
Disease: Abnormality of chromosome segregation
Abnormality of chromosome segregation 		phenotype Finding 5 0.100 None 0
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 6 25 0.300 None 1.000 1 2014 2014
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		disease Disease or Syndrome 7 1 0.020 None 1.000 2 2004 2004
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 16 0.300 None 1.000 1 2011 2011
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		disease Disease or Syndrome 8 11 0.500 None 1.000 2 1 2003 2005
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		phenotype Disease or Syndrome 8 1 0.400 None 1.000 1 2006 2006
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 2 0.100 None 0
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2008 2008
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 4 0.010 None 1.000 1 2014 2014
CUI: C4324548
Disease: Non-compaction cardiomyopathy
Non-compaction cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0013481
Disease: Ebstein Anomaly
Ebstein Anomaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 10 3 0.020 None 1.000 2 2002 2006