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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

CACNG2 EP300
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF4
CTNNB1
DYRK1A
(0.85)
(0.81)
(0.72)
EP300
EP300
EP300



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Autosomal dominant nonsyndromic intellectual deficit
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

No signs/symptoms info available.