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Mutation data in current KMearDB

  Affected Tissue/Organ Chromosome Gene Product Gene Symbol # of Mutation Entry Disease Name Curator

 

 cochlea 1 gap junction protein, beta 3, 31kDa (connexin 31) GJB3 8 Deafness, autosomal dominant 2 Keio Univ. DMB.

 

           Deafness, autosomal recessive  

 

           Erythrokeratodermia variabilis  

 

 cochlea 2 Otoferlin OTOF 1 DFNB9, Deafness, non-syndromic, autosomal recessive Keio Univ. DMB.

 

 cochlea 3 microphthalmia-associated transcription factor MITF 18 Waardenburg syndrome 2, 2A Keio Univ. DMB.

 

 cochlea 5 Diaphanous (Drosophila homologue) 1 DIAPH1/DFNA1 1 Deafness, non-syndromic, autosomal dominant 1 Keio Univ. DMB.

 

 cochlea 5 POU domain, class 4, transcription factor 3 POU4F3 1 Deafness, non-syndromic, autosomal dominant Keio Univ. DMB.

 

 cochlea 11 Tectorin alpha TECTA 5 Deafness, autosomal dominant 8, 12, autosomal recessive 21 Keio Univ. DMB.

 

 cochlea 14 Coagulation factor C (Limulus polyphemus) homology COCH 5 Deafness, non-syndromic, autosomal dominant Keio Univ. DMB.

 

 cochlea 21 cardiac potassium-channel protein minK KCNE1 8 long QT syndrome Keio Univ. DMB.

 

           Jervell and Lange-Nielsen syndrome