Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.900 Biomarker MGD Mice heterozygous for CREB binding protein are hypersensitive to γ-radiation and invariably develop myelodysplastic/myeloproliferative neoplasm. 22198154

2012

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.900 Biomarker MGD Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous mice. 11818964

2002

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.900 Biomarker MGD Gene dose-dependent control of hematopoiesis and hematologic tumor suppression by CBP. 10673499

2000

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.900 Biomarker MGD Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. 9949198

1999

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.900 Biomarker MGD Rubinstein-Taybi syndrome, which is an autosomal dominant syndrome characterized by abnormal pattern formation, has been shown to be associated with mutations in the Cbp gene. 9294190

1997