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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
No signs/symptoms info
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Hereditary chronic pancreatitis

BCAP31 CFTR
CTRC
PRSS1
PRSS2
SPINK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BCAP31
(0.73)
CFTR



Citations in the biomedical literature:


Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
BCAP31
Hereditary chronic pancreatitis
CFTR CTRC PRSS1 PRSS2 SPINK1



Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Hereditary chronic pancreatitis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
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.