CABP2, calcium binding protein 2, 51475

N. diseases: 6; N. variants: 2
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 GeneticVariation phenotype BEFREE A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. 22981119 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO