CABP2, calcium binding protein 2, 51475

N. diseases: 6; N. variants: 2
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 GeneticVariation disease BEFREE A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family. 31661684 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells. 28183797 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Expression and Localization of CaBP Ca2+ Binding Proteins in the Mouse Cochlea. 26809054 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. 22981119 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Ca2+-binding proteins tune Ca2+-feedback to Cav1.3 channels in mouse auditory hair cells. 17947313 2007