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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 4
1 OMIM reference -
1 associated gene
No signs/symptoms info
MODY syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

ABCC8 EP300
BLK
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HNF1A
NEUROD1
KLF11
HNF4A
(0.88)
(0.75)
(0.63)
(0.49)
EP300
EP300
EP300
EP300



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



MODY syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
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 (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

No signs/symptoms info available.