GATA6, GATA binding protein 6, 2627

N. diseases: 168; N. variants: 13
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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 124 37 0.730 1.000 4 3 2011 2013
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 36 7 0.620 1.000 2 1 2009 2015
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 10 0.600 5 10 1994 2015
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch
disease Congenital Abnormality 16 7 0.600 1 1 2009 2009
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 27 11 0.600 1 1 2009 2009
CUI: C3280943
Disease: ATRIAL SEPTAL DEFECT 9
ATRIAL SEPTAL DEFECT 9
disease Congenital Abnormality; Disease or Syndrome 1 1 0.600 1 1 2011 2011
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
disease Disease or Syndrome 1 5 0.500 1 5 2012 2012
CONOTRUNCAL HEART MALFORMATIONS (disorder)
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 11 16 0.500 1 1 2009 2009
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
disease Disease or Syndrome 1 5 0.500 1 5 2012 2012
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 23 7 0.500 1 1 2009 2009
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 10 0.410 1.000 1 3 2014 2014
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5
disease Congenital Abnormality; Disease or Syndrome 1 1 0.400 1 1 2011 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 moderate 0
Ostium secundum atrial septal defect
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 3 0.400 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
phenotype Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 25 2 0.400 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 24 2 0.400 0
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.310 1.000 2 2005 2006
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 63 2 0.300 1 2008 2008
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1176 23 0.300 1 2006 2006
CUI: C2931296
Disease: Yorifuji Okuno syndrome
Yorifuji Okuno syndrome
disease Behavior and Behavior Mechanisms; Cardiovascular Diseases; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 0
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 8 0.300 0
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 21 1 0.300 0
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 150 2 0.200 1 2009 2009
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.150 1.000 5 2013 2017
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital Abnormality 4 0.140 1.000 4 2013 2017