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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
1 associated gene
2 signs/symptoms
Severe congenital nemaline myopathy
Hereditary gingival fibromatosis

ACTA1 SOS1
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEB
(0.79)
SOS1



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Hereditary gingival fibromatosis
SOS1



Severe congenital nemaline myopathy
Hereditary gingival fibromatosis

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal dominant gingival fibromatosis
- Autosomal dominant gingival hyperplasia
- Hereditary gingival hyperplasia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare odontologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
4 OMIM references -
No MeSH references

Hereditary gingival fibromatosis

Very frequent
- Autosomal dominant inheritance
- Thickened / hypertrophic / fibromatous gingivae



Severe congenital nemaline myopathy

(no data available)