All individuals with variants in gene EYA1

178 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00003004 - - - - - - - - - - - ? progressive midfreq bilateral hearing loss 1 1 Marcel Nelen
00003007 - - - - - - - - - - - ? high frequency hearing loss 1 1 Marcel Nelen
00132979 29100090-FamDC1 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier father M - - - - 0 - - CAKUT CAKUT, renal hypoplasia bilateral; branchio-oto-renal syndrome features 1 2 Johan den Dunnen
00164339 - - - F no Argentina - - 0 - - BOR-1 Hearing loss, fistulae, cleft palate, renal agenesis/hypoplasia 1 5 Viviana Karina Dalamón
00283745 - PubMed: Rickard 2000 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283746 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283747 - PubMed: Sanggaard 2007 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283748 - PubMed: Matsunaga 2007 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283749 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283750 - PubMed: Rickard 2000, PubMed: Smith 1993, PubMed: Duzkale 2013 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283751 - PubMed: Wang 2012 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283752 - PubMed: Hwang 2014 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283753 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283754 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283755 - PubMed: Abdelhak 1997, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283756 - PubMed: Smith 1993, PubMed: Duzkale 2013 - - - - - - 0 - - ? branchiootorenal syndrome 1 1 1 LOVD-team, but with Curator vacancy
00283757 - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283758 - - - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283759 - PubMed: Kumar 1998, PubMed: Rowley 1969, PubMed: Smith 1993 3, - - - - - - 0 - - ? branchiootorenal syndrome 1 1 1 LOVD-team, but with Curator vacancy
00283760 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283761 - PubMed: Kumar 1998 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283762 - PubMed: Abdelhak 1997 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283763 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283764 - PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283765 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283766 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283767 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283768 - PubMed: Azuma 2000, PubMed: Buller 2001 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283769 - PubMed: Chang 2004 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283770 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283771 - PubMed: Kumar 1998 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283772 - PubMed: Okada 2006, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283773 - PubMed: Song 2013 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283774 - PubMed: Abdelhak 1997, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283775 - PubMed: Castiglione 2014 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283776 - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283777 - PubMed: Orten 2008, PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283778 - PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283779 - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283780 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283781 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283782 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283783 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283784 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283785 - PubMed: Smith 1993, PubMed: Abdelhak 1997, PubMed: Buller 2001 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283786 - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283787 - PubMed: Smith 1993, PubMed: Shimasaki 2004 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283788 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283789 - PubMed: Stockley 2009 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283790 - PubMed: Chang 2004 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283791 - PubMed: Orten 2008, PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283792 - - - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283793 - PubMed: Smith 1993, PubMed: Gigante 2013, PubMed: Duzkale 2013 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283794 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283795 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283796 - PubMed: Kim 2005 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283797 - PubMed: Abdelhak 1997, PubMed: Rickard 2000 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283798 - PubMed: Smith 1993, PubMed: Abdelhak 1997, PubMed: Buller 2001 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283799 - PubMed: Abdelhak 1997 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283800 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283801 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283802 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283803 - - - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283804 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283805 - PubMed: Smith 1993, PubMed: Duzkale 2013 - - - - - - 0 - - ? branchiootorenal syndrome 1 1 1 LOVD-team, but with Curator vacancy
00283806 - PubMed: Stockley 2009 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283807 - PubMed: Stockley 2009, PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283808 - PubMed: Abdelhak 1997, PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283809 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283810 - PubMed: Stockley 2009 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283811 - PubMed: Chang 2004, PubMed: Krug 2011, PubMed: Smith 1993, PubMed: Li 2010, PubMed: Orten 2008, PubMed: Duzkale 2013, PubMed: Kumar 1997-1998 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283812 - PubMed: Krug 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283813 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283814 - PubMed: Namba 2001, PubMed: Miyagawa 2013 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283815 - PubMed: Weber 2006 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283816 - PubMed: Azuma 2000, PubMed: Buller 2001 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283817 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283818 - PubMed: Stockley 2009 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283819 - PubMed: Okada 2006, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283820 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283821 - PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283822 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283823 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283824 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283825 - PubMed: Sanggaard 2007, PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283826 - PubMed: Chang 2004 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283827 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283828 - PubMed: Song 2013 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283829 - PubMed: Rickard 2000, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283830 - PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283831 - PubMed: Smith 1993, PubMed: Duzkale 2013 - - - - - - 0 - - ? branchiootorenal syndrome 1 1 1 LOVD-team, but with Curator vacancy
00283832 - PubMed: Orten 2008 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283833 - PubMed: Febbo 2011, PubMed: Hampel 2015, PubMed: Sturgeon 2008, PubMed: Carter 2013, PubMed: Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014, PubMed: Lindberg 2013 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283834 - PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283835 - PubMed: Azuma 2000, PubMed: Buller 2001, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283836 - PubMed: Smith 1993, PubMed: Spruijt 2006, PubMed: Olavarrieta 2008, PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283837 - PubMed: Okada 2006, PubMed: Fu 2011, PubMed: Grodecká 2014, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283838 - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283839 - PubMed: Okada 2006, PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283840 - PubMed: Orten 2008, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
Legend   « First ‹ Prev     1 2     Next › Last »