TaoMedAI/RareMedData huggingface dataset:
Gene: GATA4
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: High forehead (HP:0000348)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Micrognathia (HP:0000347)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Dextrocardia (HP:0001651)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Gene: GATA4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Gene: GATA4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Gene: GATA4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Gene: GATA4
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Gene: GATA4
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Gene: GATA4
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA4
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Strabismus (HP:0000486)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Short neck (HP:0000470)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Microphallus (HP:0030260)
Associated disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Gene: GATA4
Phenotype: Pes planus (HP:0001763)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA4
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA4
Phenotype: Weight loss (HP:0001824)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA4
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Gene: GATA6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Seizure (HP:0001250)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Seizure (HP:0001250)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 (OMIM:614474)
Gene: GATA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 9 (OMIM:614475)
Gene: GATA6
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: ATRIAL SEPTAL DEFECT 9 (OMIM:614475)
Gene: GATA6
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Biliary atresia (HP:0005912)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Biliary atresia (HP:0005912)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Hypoplasia of right ventricle (HP:0004762)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 (OMIM:614474)
Gene: GATA6
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATRIAL SEPTAL DEFECT 9 (OMIM:614475)
Gene: GATA6
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Hernia (HP:0100790)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Anterior pituitary agenesis (HP:0010626)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Broad hallux (HP:0010055)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Glycosuria (HP:0003076)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Microcolon (HP:0004388)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 (OMIM:614474)
Gene: GATA6
Phenotype: Absent gallbladder (HP:0011467)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Aplasia/Hypoplasia of the gallbladder (HP:0011466)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Aplasia of the left hemidiaphragm (HP:0009112)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GATA6
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Cervical ribs (HP:0000891)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Cervical ribs (HP:0000891)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Prominent sternum (HP:0000884)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Double outlet left ventricle (HP:0011581)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Double outlet left ventricle (HP:0011581)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Hypoplastic tricuspid valve (HP:0011573)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Hypoplastic tricuspid valve (HP:0011573)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Aplasia/Hypoplasia of the diaphragm (HP:0010315)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: GATA6
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: GATA6
Phenotype: Total absence of the pericardium (HP:0011629)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Congenital defect of the pericardium (HP:0011628)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 (OMIM:614474)
Gene: GATA6
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Yorifuji-Okuno syndrome; PACHD; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic agenesis and congenital heart defects syndrome (ORPHA:2255)
Gene: GATA6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Gene: GATA6
Phenotype: ST segment depression (HP:0012250)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GATA6
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: GATA6
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GATA6
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)