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Hermansky-Pudlak syndrome type 7
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant Emery-Dreifuss muscular dystrophy
4 OMIM references -
4 associated genes
No signs/symptoms info
Hermansky-Pudlak syndrome type 7
Autosomal dominant Emery-Dreifuss muscular dystrophy

DTNBP1
(UniProt - OMIM)
 LMNA
(UniProt - OMIM)
SYNE1
(UniProt - OMIM)
SYNE2
(UniProt - OMIM)
TMEM43
(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 dominant Emery-Dreifuss muscular dystrophy
LMNA SYNE1 SYNE2 TMEM43



Hermansky-Pudlak syndrome type 7
Autosomal dominant Emery-Dreifuss muscular dystrophy

Synonym(s):
- HPS7
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare skin disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.