CABP2, calcium binding protein 2, 51475

N. diseases: 6; N. variants: 2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93 ×
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