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Hermansky-Pudlak syndrome type 7
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
6 associated genes
No signs/symptoms info
Hermansky-Pudlak syndrome type 7
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

DTNBP1
(UniProt - OMIM)
 MAGEL2
(UniProt - OMIM)
NDN
(UniProt - OMIM)
OCA2
(UniProt - OMIM)
SNORD115@
(OMIM)
SNORD116@
(OMIM)
SNRPN
(UniProt - OMIM)

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


Citations in the biomedical literature:


Hermansky-Pudlak syndrome type 7
DTNBP1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
MAGEL2 NDN OCA2 SNORD115@ SNORD116@ SNRPN



Hermansky-Pudlak syndrome type 7
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

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 developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- 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.