All individuals with variants in gene COCH

37 entries on 1 page. Showing entries 1 - 37.
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AscendingIndividual ID     
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VIP     
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Treatment     
Disease     
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Variants     
Panel size     
Owner     
00043836 - - DFNA9 M - Korea, South (Republic) Asian - - 52 - DFNA1 DFNA9 1 1 Han Sang Kim
00043837 - - DFNA9 M - Korea, South (Republic) Asian - - 48 - DFNA1 DFNA9 1 1 Han Sang Kim
00059030 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Jewish-Ashkenazi - - - - DFNA9 Late onset (18-30y), progressive high-tone hearing loss 1 3 Zippi Brownstein
00100385 - - - - - Netherlands - - - - - DFNA9 - 1 1 Margit Schraders
00285036 SH20-47 PubMed: Choi 2013 family, 5 affected - - Korea - - - - - HL - 1 5 Global Variome, with Curator vacancy
00285037 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00285038 - PubMed: Bischoff 2005, PubMed: Robertson 2006, PubMed: Fransen 2001, PubMed: Shearer 1993, PubMed: Duzkale 2013, PubMed: Fransen 1999, PubMed: de Kok 1999, PubMed: Hildebrand 2009 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285039 - PubMed: Manolis 1996, PubMed: Robertson 1998, PubMed: Shearer 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285040 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00285041 - PubMed: Collin 2006 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285042 - PubMed: Yang 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285043 - PubMed: Shearer 1993, PubMed: Robertson 1998, PubMed: Tsukada 2015 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285044 - PubMed: Robertson 1998, PubMed: Duzkale 2013, PubMed: Yao 2010 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00285045 - PubMed: Dodson 2012 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00285046 - PubMed: Nagy 2004 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285047 - PubMed: Shearer 1993, PubMed: Grabski 2003, PubMed: Kamarinos 2001 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285048 - PubMed: Pauw 2007 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285049 SB50-94 PubMed: Choi 2013 family, 3 affected - - Korea - - - - - HL - 1 3 Global Variome, with Curator vacancy
00285050 - PubMed: Shearer 1993, PubMed: Robertson 1998 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285051 - PubMed: Shearer 1993, PubMed: Usami 2003 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285052 - PubMed: Hildebrand 2010 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285053 - PubMed: Gao 2013 - - - - - - - - - HL progressive sensorineural 1 1 Global Variome, with Curator vacancy
00285054 - PubMed: Tsukada 2015 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00285055 - PubMed: Gallant 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285056 - PubMed: Ji 2014 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285057 - - - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285058 - PubMed: Ji 2014 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285059 - PubMed: Shearer 1993, PubMed: Yuan 2008 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285060 - PubMed: Cho 2012 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285061 - PubMed: Tsukada 2015 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00285062 - PubMed: Street 2005, PubMed: Shearer 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00285063 - PubMed: Shearer 1993, PubMed: Yuan 2008 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00291029 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00408949 XIV PubMed: Lerat-2019 - F - France French - - - - retinal disease balance disorders, cochlear implantation, severe to profound auditory neuropathy hearing loss 1 1 LOVD
00433194 family PubMed: Danial-Farran 2021 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab;Christian - - - - HL see paper; ..., high-tone hearing loss, ranging from mild-moderate in low frequencies to severe in high frequencies 1 3 Johan den Dunnen
00433195 FamAI PubMed: Janssens de Varebeke 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - Belgium Morocco - - - - HL see paper; ..., prelingual congenital moderate sensorineural hearing loss 1 2 Johan den Dunnen
00441510 B00APG2 PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
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