ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
Disease: Conductive hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.010 GeneticVariation disease BEFREE Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 20358596 2010