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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Ovarioleukodystrophy
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

EIF2B1 CREBBP
EIF2B2
EIF2B3
EIF2B4
EIF2B5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EIF2B1
(0.72)
CREBBP



Citations in the biomedical literature:


Ovarioleukodystrophy
EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Ovarioleukodystrophy
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

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):
- Endocrine, nutritional and metabolic diseases -
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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.