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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
No signs/symptoms info
Congenital factor XII deficiency
Bernard-Soulier syndrome

F12 GP1BA
GP1BB
GP9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
F12
(0.85)
GP1BA



Citations in the biomedical literature:


Congenital factor XII deficiency
F12
Bernard-Soulier syndrome
GP1BA GP1BB GP9



Congenital factor XII deficiency
Bernard-Soulier syndrome

Synonym(s):
- Congenital Hageman factor deficiency

Synonym(s):
- Giant platelet syndrome
- Hemorrhagiparous thrombocytic dystrophy

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D001606

No signs/symptoms info available.