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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary persistence of fetal hemoglobin - sickle cell disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

HBB EP300
HBG1
HBG2
KLF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KLF1
(0.56)
EP300



Citations in the biomedical literature:


Hereditary persistence of fetal hemoglobin - sickle cell disease
HBB HBG1 HBG2 KLF1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Hereditary persistence of fetal hemoglobin - sickle cell disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- HPFH - sickle cell disease

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic 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 blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

No signs/symptoms info available.