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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Posterior polymorphous corneal dystrophy
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

COL8A2 EP300
VSX1
ZEB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ZEB1
(0.52)
EP300



Citations in the biomedical literature:


Posterior polymorphous corneal dystrophy
COL8A2 VSX1 ZEB1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Posterior polymorphous corneal dystrophy
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- PPCD
- Posterior polymorphous dystrophy
- Schlichting dystrophy

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

No signs/symptoms info available.