Cytoscape Web
Click node...


5 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Periventricular nodular heterotopia
Neutral lipid storage myopathy

ARFGEF2 PNPLA2
ERMARD
FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ARFGEF2
(0.72)
PNPLA2



Citations in the biomedical literature:


Periventricular nodular heterotopia
ARFGEF2 ERMARD FLNA
Neutral lipid storage myopathy
PNPLA2



Periventricular nodular heterotopia
Neutral lipid storage myopathy

Synonym(s):
(no synonyms)

Synonym(s):
- NLSDM
- Neutral lipid storage disease with myopathy without ichthyosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
1 MeSH reference: D054091
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.