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.
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis
phenotype Finding 8 0.100 None 0
CUI: C0039070
Disease: Syncope
Syncope
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
Small for gestational age (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C1846433
Disease: Prominent sternum
Prominent sternum
phenotype Finding 8 0.100 None 0
Perimembranous ventricular septal defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 3 0.100 None 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
phenotype Finding 12 5 0.100 None 0
CUI: C0392482
Disease: Common atrium
Common atrium
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 11 1 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0 1
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 0
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 0.100 None 0
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue
phenotype Finding 18 3 0.100 None 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 28 5 0.100 None 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis
disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 0.100 None 0
Partial thromboplastin time increased (finding)
phenotype Finding 18 1 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
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