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Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Infantile autosomal recessive medullary cystic kidney disease
4 associated genes
No signs/symptoms info
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Infantile autosomal recessive medullary cystic kidney disease

BICD2
(UniProt - OMIM)
 ANKS6
(UniProt - OMIM)
INVS
(UniProt - OMIM)
NEK8
(UniProt - OMIM)
TTC21B
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BICD2
(0.77)
NEK8


Citations in the biomedical literature:


Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
BICD2
Infantile autosomal recessive medullary cystic kidney disease
ANKS6 INVS NEK8 TTC21B



Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Infantile autosomal recessive medullary cystic kidney disease

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
- SMALED2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.