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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
No signs/symptoms info
Encephalopathy due to GLUT1 deficiency
Myelofibrosis with myeloid metaplasia

SLC2A1 CALR
JAK2
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC2A1
(0.78)
CALR



Citations in the biomedical literature:


Encephalopathy due to GLUT1 deficiency
SLC2A1
Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2



Encephalopathy due to GLUT1 deficiency
Myelofibrosis with myeloid metaplasia

Synonym(s):
- De Vivo disease
- Glucose transporter type 1 deficiency
- Glut-1 deficiency Syndrome
- Glut1-DS

Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
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.