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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 3
Atrial septal defect, ostium secundum type
8 OMIM references -
8 associated genes
No signs/symptoms info
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Atrial septal defect, ostium secundum type

EP300
(UniProt - OMIM)
 ACTC1
(UniProt - OMIM)
CITED2
(UniProt - OMIM)
GATA4
(UniProt - OMIM)
GATA6
(UniProt - OMIM)
MYH6
(UniProt - OMIM)
NKX2-5
(UniProt - OMIM)
TBX20
(UniProt - OMIM)
TLL1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EP300
EP300
EP300
(0.97)
(0.82)
(0.73)
CITED2
GATA4
GATA6


Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300
Atrial septal defect, ostium secundum type
ACTC1 CITED2 GATA4 GATA6 MYH6 NKX2-5
TBX20 TLL1



Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Atrial septal defect, ostium secundum type

Synonym(s):
(no synonyms)

Synonym(s):
- ASD, ostium secundum type
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 (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac 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:
1 OMIM reference -
No MeSH references
External references:
8 OMIM references -
No MeSH references
No signs/symptoms info available.