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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Complete atrioventricular canal - ventricle hypoplasia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

CRELD1 EP300
GATA4
GATA6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
GATA6
(0.82)
(0.73)
EP300
EP300



Citations in the biomedical literature:


Complete atrioventricular canal - ventricle hypoplasia
CRELD1 GATA4 GATA6
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Complete atrioventricular canal - ventricle hypoplasia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- CAVC - ventricle hypoplasia
- CAVC type B
- Complete atrioventricular canal type B

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.