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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
11 OMIM references -
12 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

ACTA1 ACTN4
KLHL40 ADCK4
KLHL41 ARHGAP24
NEB CD2AP
INF2
MYO1E
NPHS1
NPHS2
PLCE1
PTPRO
TRPC6
WT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEB
(0.62)
ACTN4



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ACTN4 ADCK4 ARHGAP24 CD2AP INF2 MYO1E
NPHS1 NPHS2 PLCE1 PTPRO TRPC6 WT1



Severe congenital nemaline myopathy
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

Synonym(s):
(no synonyms)

Synonym(s):
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

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):
- Diseases of the genitourinary system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
11 OMIM references -
No MeSH references

No signs/symptoms info available.