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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Intellectual deficit, Birk-Barel type
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Intellectual deficit, Birk-Barel type

YWHAE
(UniProt - OMIM)
 KCNK9
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.65)
KCNK9


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Intellectual deficit, Birk-Barel type
KCNK9



Distal 17p13.3 microdeletion syndrome
Intellectual deficit, Birk-Barel type

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- Intellectual deficit - hypotonia - facial dysmorphism
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.