ODCs

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5 OMIM references -
5 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Hereditary persistence of fetal hemoglobin - beta-thalassemia

Rubinstein-Taybi syndrome due to CREBBP mutations


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KLF1	(0.8)	CREBBP

Citations in the biomedical literature:

Hereditary persistence of fetal hemoglobin - beta-thalassemia		Rubinstein-Taybi syndrome due to CREBBP mutations
	Synonym(s): - HPFH - beta-thalassemia		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: childhood Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Hereditary persistence of fetal hemoglobin - beta-thalassemia
	Very frequent - Anaemia - Hemoglobinosis / hemoglobinopathy - Pallor - Splenomegaly Frequent - Anomalies of bones / skeletal anomalies - Hepatomegaly / liver enlargement (excluding storage disease)
Rubinstein-Taybi syndrome due to CREBBP mutations
(no data available)