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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
8 OMIM references -
6 associated genes
12 signs/symptoms
Severe congenital nemaline myopathy
Familial melanoma

ACTA1 CDK4
KLHL40 CDKN2A
KLHL41 CDKN2B
NEB CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.63)
CDKN2A



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT



Severe congenital nemaline myopathy
Familial melanoma

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

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

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: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
8 OMIM references -
No MeSH references

Familial melanoma

Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Melanoma

Frequent
- Anomalies of the lymphatic system
- Dry / squaly skin / exfoliation
- Excessive freckling
- Hair and scalp anomalies

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrapyramidal syndrome
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Retinopathy


Severe congenital nemaline myopathy

(no data available)