SIX2, SIX homeobox 2, 10736

N. diseases: 79; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker disease BEFREE SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans. 27383657 2016
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker disease HPO