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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 associated genes
No signs/symptoms info
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Single ventricular septal defect

CREBBP CITED2
GATA4
GATA5
NKX2-5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.73)
CITED2



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Single ventricular septal defect
CITED2 GATA4 GATA5 NKX2-5



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Single ventricular septal defect

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:
No OMIM references
No MeSH references

No signs/symptoms info available.