CABP2, calcium binding protein 2, 51475

N. diseases: 6; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888355
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93
DEAFNESS, AUTOSOMAL RECESSIVE 93 		0.800 Biomarker disease MGD Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells. 28183797 2017
CUI: C3888355
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93
DEAFNESS, AUTOSOMAL RECESSIVE 93 		0.800 Biomarker disease GENOMICS_ENGLAND A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. 22981119 2012
CUI: C3888355
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93
DEAFNESS, AUTOSOMAL RECESSIVE 93 		0.800 CausalMutation disease CLINVAR
CUI: C3888355
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93
DEAFNESS, AUTOSOMAL RECESSIVE 93 		0.800 Biomarker disease CTD_human
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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.200 Biomarker disease MGD Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells. 28183797 2017
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
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		0.010 GeneticVariation disease BEFREE We show that genetic defects in CABP2 cause moderate-to-severe sensorineural hearing impairment. 22981119 2012