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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
No signs/symptoms info
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Hypokalemic periodic paralysis

SLC34A1 CACNA1S
SLC9A3R1 KCNE3
SCN4A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC9A3R1
(0.63)
SCN4A



Citations in the biomedical literature:


Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SLC34A1 SLC9A3R1
Hypokalemic periodic paralysis
CACNA1S KCNE3 SCN4A



Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Hypokalemic periodic paralysis

Synonym(s):
(no synonyms)

Synonym(s):
- Westphall disease

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D020514

No signs/symptoms info available.