Cytoscape Web
Click node...

Autosomal dominant macrothrombocytopenia
3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant macrothrombocytopenia
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation

ACTN1
(UniProt - OMIM)
 GRIN2A
(UniProt - OMIM)
ITGA2B
(UniProt - OMIM)
ITGB3
(UniProt - OMIM)
TUBB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTN1
(0.62)
GRIN2A


Citations in the biomedical literature:


Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
GRIN2A



Autosomal dominant macrothrombocytopenia
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.