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Autosomal dominant Charcot-Marie-Tooth disease type 2A1
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Glycogen storage disease due to phosphoglucomutase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Glycogen storage disease due to phosphoglucomutase deficiency

KIF1B
(UniProt - OMIM)
 PGM1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIF1B
(0.63)
PGM1


Citations in the biomedical literature:


Autosomal dominant Charcot-Marie-Tooth disease type 2A1
KIF1B
Glycogen storage disease due to phosphoglucomutase deficiency
PGM1



Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Glycogen storage disease due to phosphoglucomutase deficiency

Synonym(s):
- CMT2A1
Synonym(s):
- GSD due to phosphoglucomutase deficiency
- GSD type 14
- GSDXIV
- Glycogen storage disease type 14
- Glycogenosis due to phosphoglucomutase deficiency
- Glycogenosis type 14
- Phosphoglucomutase 1 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.