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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
10 associated genes
No signs/symptoms info
Pseudohypoaldosteronism type 2C
Early infantile epileptic encephalopathy

WNK1 ARX
CACNA2D2
GNAO1
KCNQ2
PLCB1
SCN2A
SCN8A
SLC25A22
SPTAN1
STXBP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WNK1
(0.63)
GNAO1



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2C
WNK1
Early infantile epileptic encephalopathy
ARX CACNA2D2 GNAO1 KCNQ2 PLCB1 SCN2A
SCN8A SLC25A22 SPTAN1 STXBP1



Pseudohypoaldosteronism type 2C
Early infantile epileptic encephalopathy

Synonym(s):
- PHA2C

Synonym(s):
- EIEE
- Early infantile epileptic encephalopathy with suppression-bursts
- Ohtahara syndrome

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -

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: autosomal dominant

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

No signs/symptoms info available.