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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Distal hereditary motor neuropathy type 7
2 OMIM references -
2 associated genes
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Distal hereditary motor neuropathy type 7

STAT1
(UniProt - OMIM)
 DCTN1
(UniProt - OMIM)
SLC5A7
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STAT1
(0.63)
DCTN1


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1
Distal hereditary motor neuropathy type 7
DCTN1 SLC5A7



Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Distal hereditary motor neuropathy type 7

Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Synonym(s):
- Distal spinal muscular atrophy with vocal cord paralysis
- dHMN7
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.