Cytoscape Web
Click node...

Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Von Willebrand disease, platelet type
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Von Willebrand disease, platelet type

YWHAE
(UniProt - OMIM)
 GP1BA
(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
Von Willebrand disease, platelet type
GP1BA



Distal 17p13.3 microdeletion syndrome
Von Willebrand disease, platelet type

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- PT-VWD
- Pseudo-Von Willebrand disease
- Pseudo-Von Willebrand disease type 2B
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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.