CLDN14, claudin 14, 23562

N. diseases: 36; N. variants: 17
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 GeneticVariation disease CLINVAR A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. 27838790 2017
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 GeneticVariation disease CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 GeneticVariation disease UNIPROT Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. 23235333 2013
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 GeneticVariation disease UNIPROT Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. 22246673 2012
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 Biomarker disease GENOMICS_ENGLAND Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. 22246673 2012
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 Biomarker disease MGD Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. 12913076 2003
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 GeneticVariation disease UNIPROT Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. 11163249 2001
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 CausalMutation disease CLINVAR
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.900 Biomarker disease CTD_human