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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Congenital intrinsic factor deficiency

CBL GIF


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
(0.56)
GIF



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Congenital intrinsic factor deficiency
GIF



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Congenital intrinsic factor deficiency

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Synonym(s):
- Congenital pernicious anemia
- Gastric intrinsic factor deficiency
- Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency
- IFD
- Intrinsic factor deficiency

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.