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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2013 2013
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.010 None 1.000 1 1 2007 2007
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2008 2008
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2019 2019
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 80 6 0.010 None 1.000 1 2012 2012
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.010 None 1.000 1 2014 2014
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: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		disease Neoplasms Neoplastic Process 68 2 0.010 None 1.000 1 2008 2008
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.010 None 1.000 1 2004 2004
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2017 2017
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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.010 None 1.000 1 2019 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2018 2018
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 1999 1999
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 34 16 0.010 None < 0.001 1 2006 2006
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2012 2012
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.010 None 1.000 1 2008 2008
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2018 2018
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		disease Digestive System Diseases Congenital Abnormality 26 306 0.010 None 1.000 1 2012 2012
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2017 2017
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 34 11 0.010 None 1.000 1 2017 2017
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.010 None 1.000 1 2001 2001
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2011 2011
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 28 0.010 None 1.000 1 2019 2019