Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.010 GeneticVariation BEFREE We suggest that this specific class of ADNP mutation is likely associated with a blepharophimosis syndrome phenotype. 28407407

2017