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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Bernard-Soulier syndrome
2 OMIM references -
3 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Bernard-Soulier syndrome

YWHAE
(UniProt - OMIM)
 GP1BA
(UniProt - OMIM)
GP1BB
(UniProt - OMIM)
GP9
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.63)
GP1BA


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Bernard-Soulier syndrome
GP1BA GP1BB GP9



Distal 17p13.3 microdeletion syndrome
Bernard-Soulier syndrome

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- Giant platelet syndrome
- Hemorrhagiparous thrombocytic dystrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- 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: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D001606
No signs/symptoms info available.