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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Short stature due to growth hormone qualitative anomaly
Autosomal dominant limb-girdle muscular dystrophy type 1D

GH1 DNAJB6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GH1
(0.63)
DNAJB6



Citations in the biomedical literature:


Short stature due to growth hormone qualitative anomaly
GH1
Autosomal dominant limb-girdle muscular dystrophy type 1D
DNAJB6



Short stature due to growth hormone qualitative anomaly
Autosomal dominant limb-girdle muscular dystrophy type 1D

Synonym(s):
- Kowarski syndrome

Synonym(s):
- LGMD1D

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: no data available
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.