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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
17q11 microdeletion syndrome
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

NF1 GDAP1
RNF135
SUZ12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SUZ12
(0.63)
GDAP1



Citations in the biomedical literature:


17q11 microdeletion syndrome
NF1 RNF135 SUZ12
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
GDAP1



17q11 microdeletion syndrome
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Synonym(s):
- ARCMT2K
- Autosomal recessive axonal CMT4C4
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K

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):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.