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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
Hyperinsulinism due to HNF1A deficiency

CACNG2 HNF1A
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.63)
HNF1A



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Hyperinsulinism due to HNF1A deficiency
HNF1A



Autosomal dominant nonsyndromic intellectual deficit
Hyperinsulinism due to HNF1A deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Hyperinsulinemic hypoglycemia due to HNF1A deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
13 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.