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: C3888085
Disease: PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS 		disease Disease or Syndrome 1 0.310 strong 1.000 4 2011 2017
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		disease Disease or Syndrome 1 10 0.700 None 1.000 3 10 2010 2017
CUI: C2931296
Disease: Yorifuji Okuno syndrome
Yorifuji Okuno syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 2 2011 2012
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		disease Disease or Syndrome; Congenital Abnormality 1 1 0.500 None 1.000 2 1 2010 2010
CUI: C0345140
Disease: Totally absent pericardium
Totally absent pericardium 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 1 0.100 None 1.000 1 1 2014 2014
CUI: C3280943
Disease: ATRIAL SEPTAL DEFECT 9
ATRIAL SEPTAL DEFECT 9 		disease Disease or Syndrome; Congenital Abnormality 1 1 0.600 None 1.000 1 1 2010 2010
CUI: C0265809
Disease: Double outlet left ventricle
Double outlet left ventricle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.100 None 0
CUI: C4023261
Disease: Congenital defect of the pericardium
Congenital defect of the pericardium 		disease Congenital Abnormality 1 0.100 None 0
CUI: C4023344
Disease: Aplasia/Hypoplasia of the gallbladder
Aplasia/Hypoplasia of the gallbladder 		phenotype Finding 1 0.100 None 0
CUI: C0265837
Disease: Congenital hypoplasia of tricuspid valve
Congenital hypoplasia of tricuspid valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 1 0.100 None 0
CUI: C4023910
Disease: Aplasia/Hypoplasia of the diaphragm
Aplasia/Hypoplasia of the diaphragm 		phenotype Finding 2 0.100 None 0
CUI: C3808410
Disease: Gastrointestinal malrotation
Gastrointestinal malrotation 		phenotype Finding 3 2 0.100 None 1.000 1 1 2014 2014
CUI: C4749284
Disease: Familial bicuspid aortic valve
Familial bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		phenotype Finding 3 3 0.100 None 0 1
CUI: C4021967
Disease: Pancreatic aplasia
Pancreatic aplasia 		phenotype Finding 3 0.100 None 0
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 4 15 0.010 None 1.000 1 2019 2019
CUI: C0265857
Disease: Uhl anomaly
Uhl anomaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 0.100 None 0
CUI: C4023290
Disease: Partial defect of atrioventricular canal
Partial defect of atrioventricular canal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 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: C0268855
Disease: Hypertrophy of bladder
Hypertrophy of bladder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.010 None 1.000 1 2013 2013
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 2 0.010 None 1.000 1 2014 2014
CUI: C0266251
Disease: Gallbladder, Agenesis Of
Gallbladder, Agenesis Of 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.010 None 1.000 1 2015 2015
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2013 2013
CUI: C0021313
Disease: Infection of kidney
Infection of kidney 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019