Cytoscape Web
Click node...

Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Primary ciliary dyskinesia - retinitis pigmentosa
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Primary ciliary dyskinesia - retinitis pigmentosa

YWHAE
(UniProt - OMIM)
 RPGR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.52)
RPGR


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Primary ciliary dyskinesia - retinitis pigmentosa
RPGR



Distal 17p13.3 microdeletion syndrome
Primary ciliary dyskinesia - retinitis pigmentosa

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.