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Tubular aggregate myopathy
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to ORAI1 deficiency
Familial benign chronic pemphigus
Acatalasemia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
STIM1 Q13586605921
No signs/symptoms info available.