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17q11 microdeletion syndrome
1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
SSR4-CDG
1 associated gene
No signs/symptoms info
17q11 microdeletion syndrome
SSR4-CDG

NF1
(UniProt - OMIM)
 SSR4
(UniProt - OMIM)
RNF135
(UniProt - OMIM)
SUZ12
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SUZ12
(0.63)
SSR4


Citations in the biomedical literature:


17q11 microdeletion syndrome
NF1 RNF135 SUZ12
SSR4-CDG
SSR4



17q11 microdeletion syndrome
SSR4-CDG

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.