Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 GeneticVariation BEFREE From a clinical standpoint, a differential diagnosis of patients with blepharophimosis should include ADNP mutations in addition to blepharophimosis ptosis epicanthus inversus syndrome, especially when intellectual disability is present. 28407407

2017

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO