Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0033377
Disease: Ptosis
Ptosis
0.110 GeneticVariation BEFREE Individuals with variants between bp 5,595 and 5,614 of CREBBP show a specific phenotype (ptosis, telecanthi, short and upslanted palpebral fissures, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum). 29460469

2018

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0033377
Disease: Ptosis
Ptosis
0.110 Biomarker HPO