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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
5 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Extraskeletal myxoid chondrosarcoma

PLEC EWSR1
NR4A3
TAF15
TCF12
TFG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
PLEC
(0.56)
(0.56)
EWSR1
TAF15



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC
Extraskeletal myxoid chondrosarcoma
EWSR1 NR4A3 TAF15 TCF12 TFG



Autosomal recessive limb-girdle muscular dystrophy type 2Q
Extraskeletal myxoid chondrosarcoma

Synonym(s):
- Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
- LGMD2Q

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

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

No signs/symptoms info available.