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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Rubinstein-Taybi syndrome due to CREBBP mutations
Autosomal dominant primary hypomagnesemia with hypocalciuria

CREBBP FXYD2
HNF1B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.55)
HNF1B



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Autosomal dominant primary hypomagnesemia with hypocalciuria
FXYD2 HNF1B



Rubinstein-Taybi syndrome due to CREBBP mutations
Autosomal dominant primary hypomagnesemia with hypocalciuria

Synonym(s):
(no synonyms)

Synonym(s):
- HOMG2
- Isolated autosomal dominant hypomagnesemia
- Isolated renal magnesium wasting
- Renal hypomagnesemia type 2

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.