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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Localized junctional epidermolysis bullosa, non-Herlitz type
Autosomal recessive systemic lupus erythematosus

COL17A1 DNASE1L3
ITGB4 PRKCD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITGB4
(0.55)
PRKCD



Citations in the biomedical literature:


Localized junctional epidermolysis bullosa, non-Herlitz type
COL17A1 ITGB4
Autosomal recessive systemic lupus erythematosus
DNASE1L3 PRKCD



Localized junctional epidermolysis bullosa, non-Herlitz type
Autosomal recessive systemic lupus erythematosus

Synonym(s):
- JEB-nH loc

Synonym(s):
- Autosomal recessive SLE
- Familial SLE
- Familial systemic lupus erythematosus

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease

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

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

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

No signs/symptoms info available.