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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Xeroderma pigmentosum complementation group E
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

DDB2 EP300


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DDB2
(0.73)
EP300



Citations in the biomedical literature:


Xeroderma pigmentosum complementation group E
DDB2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Xeroderma pigmentosum complementation group E
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- XPE

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

No signs/symptoms info available.