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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Isolated ATP synthase deficiency
3 OMIM references -
4 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Isolated ATP synthase deficiency

YWHAE
(UniProt - OMIM)
 ATP5A1
(UniProt - OMIM)
ATP5E
(UniProt - OMIM)
ATPAF1
(UniProt - OMIM)
ATPAF2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.63)
ATP5A1


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Isolated ATP synthase deficiency
ATP5A1 ATP5E ATPAF1 ATPAF2



Distal 17p13.3 microdeletion syndrome
Isolated ATP synthase deficiency

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- Isolated mitochondrial respiratory chain complex V deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic 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:
3 OMIM references -
No MeSH references
No signs/symptoms info available.