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5 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Periventricular nodular heterotopia
Localized junctional epidermolysis bullosa, non-Herlitz type

ARFGEF2 COL17A1
ERMARD ITGB4
FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.56)
ITGB4



Citations in the biomedical literature:


Periventricular nodular heterotopia
ARFGEF2 ERMARD FLNA
Localized junctional epidermolysis bullosa, non-Herlitz type
COL17A1 ITGB4



Periventricular nodular heterotopia
Localized junctional epidermolysis bullosa, non-Herlitz type

Synonym(s):
(no synonyms)

Synonym(s):
- JEB-nH loc

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: neonatal/infancy
Average age of death: normal
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.