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3 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Sarcoidosis
Distal 17p13.3 microdeletion syndrome

BTNL2 YWHAE
HLA-DRB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HLA-DRB1
(0.63)
YWHAE



Citations in the biomedical literature:


Sarcoidosis
BTNL2 HLA-DRB1
Distal 17p13.3 microdeletion syndrome
YWHAE



Sarcoidosis
Distal 17p13.3 microdeletion syndrome

Synonym(s):
- Besnier-Boeck-Schaumann disease
- Boeck sarcoid
- Boeck's sarcoid

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare eye disease
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
(no data available)

External references:
3 OMIM references -
1 MeSH reference: D012507
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.