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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Lissencephaly due to LIS1 mutation
Distal hereditary motor neuropathy type 7

PAFAH1B1 DCTN1
SLC5A7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAFAH1B1
(0.84)
DCTN1



Citations in the biomedical literature:


Lissencephaly due to LIS1 mutation
PAFAH1B1
Distal hereditary motor neuropathy type 7
DCTN1 SLC5A7



Lissencephaly due to LIS1 mutation
Distal hereditary motor neuropathy type 7

Synonym(s):
- PAFAH1B1-associated lissencephaly

Synonym(s):
- Distal spinal muscular atrophy with vocal cord paralysis
- dHMN7

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.