GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
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: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2014 2014
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.410 None 1.000 1 2017 2017
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis
disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.100 None 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
disease Anatomical Abnormality 34 0.100 None 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology
disease Anatomical Abnormality 11 1 0.100 None 0
CUI: C4082954
Disease: Hypoplasia of right ventricle
Hypoplasia of right ventricle
phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4531220
Disease: Coronary sinus enlargement
Coronary sinus enlargement
phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.100 None 1.000 13 2013 2019
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.070 None 1.000 7 2010 2019
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.140 None 1.000 5 1 2011 2014
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.730 None 1.000 5 4 2010 2014
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.050 None 1.000 5 2010 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 1.000 4 2010 2019
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.140 None 1.000 4 2013 2017
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.030 None 1.000 3 2013 2019
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.430 None 1.000 3 3 2014 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.110 None 1.000 2 2 2010 2014
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 76 4 0.120 None 1.000 2 1 2009 2015
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.120 None 1.000 2 1 2018 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.020 None 1.000 2 2016 2018
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
disease Congenital Abnormality 51 45 0.020 None 1.000 2 2014 2018
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.110 None 1.000 1 2018 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.100 None 1.000 1 1 2014 2014
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 77 12 0.010 None 1.000 1 2011 2011