Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
0.110 Biomarker disease BEFREE Heterozygous CBP-deficient mice, which had truncated CBP protein (residues 1-1084) containing the CREB-binding domain (residues 462-661), showed clinical features of RTS, such as growth retardation (100%), retarded osseous maturation (100%), hypoplastic maxilla with narrow palate (100%), cardiac anomalies (15%) and skeletal abnormalities (7%). 9949198 1999
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
0.110 Biomarker disease HPO