Cytoscape Web
Click node...

Hermansky-Pudlak syndrome type 7
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive myogenic arthrogryposis multiplex congenita
1 associated gene
No signs/symptoms info
Hermansky-Pudlak syndrome type 7
Autosomal recessive myogenic arthrogryposis multiplex congenita

DTNBP1
(UniProt - OMIM)
 SYNE1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DTNBP1
(0.63)
SYNE1


Citations in the biomedical literature:


Hermansky-Pudlak syndrome type 7
DTNBP1
Autosomal recessive myogenic arthrogryposis multiplex congenita
SYNE1



Hermansky-Pudlak syndrome type 7
Autosomal recessive myogenic arthrogryposis multiplex congenita

Synonym(s):
- HPS7
Synonym(s):
- Autosomal recessive myogenic AMC
- SYNE1-related AMC
- SYNE1-related arthrogryposis multiplex congenita
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.