All individuals with variants in gene GLA

700 entries on 7 pages. Showing entries 1 - 100.
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Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00016148 - - - ? ? Netherlands Caucasian - 0 - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00088159 - PubMed: Sabourdy 2009, Journal: Sabourdy 2009 3-generation family, 3 affecteds (F, 2M) mother and 2 sons F;M - Greece - - 0 - - Danon;GSD-2B see paper; ... 1 3 Johan den Dunnen
00106871 - PubMed: Eng 1993 - - ? - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106872 19377233-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX X-linked mental retardation 1 2 Lucy Raymond
00106873 - Cooper 2000, HGOL - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106874 - - - F no Italy Caucasian - 0 - - Fabry Renal involvement; hypertension 1 1 Amelia Morrone
00106875 - - - M no Italy Caucasian - 0 - - Fabry Fever pain crisis, cardiomyopathy, valve disese, hypertension, renal involvement, renal transplantation at 27 years 1 1 Amelia Morrone
00106876 - - - M no Italy Caucasian - 0 - - Fabry Angiokeratoma, cornea verticillata, acroparesthesias, fever pain crisis, cardiovascular and renal manifestations 1 1 Amelia Morrone
00106877 - - - F - Netherlands - - 0 - - Fabry acroparesthesias, cardiac and renal involvement 1 1 Amelia Morrone
00106878 - - - - no Italy - - 0 - - Fabry Abdominal pain, tinnitus, acroparesthesias, fever pain crisis, cardiac and renal involvement 1 1 Amelia Morrone
00106879 - - - M - Italy Caucasian - 0 - - Fabry Abdominal pain, fever pain crisis 1 1 Amelia Morrone
00106880 - PubMed: Lorenz 2003 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106881 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106882 - PubMed: Shabbeer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106883 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106884 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106885 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106886 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106887 - PubMed: Okumiya 1995 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106888 - PubMed: Koskenvuo 2009 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106889 - PubMed: Nakao 1995 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106890 - PubMed: Ashton-Prolla 2000 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106891 - Cooper 2000, HGOL - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106892 - PubMed: Shabbeer 2006 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106893 - PubMed: Shabbeer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106894 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106895 - PubMed: Shabbeer 2002 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106896 - PubMed: Zhang 2007 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106897 - PubMed: Wang 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106898 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106899 - PubMed: Sadick 2007 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106900 - PubMed: Spada 2006 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106901 - PubMed: Kimura 2002 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106902 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106903 - PubMed: Topaloglu 1999 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106904 - PubMed: Schafer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106905 - PubMed: Okumiya 1995 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106906 - PubMed: Ashley 2001 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106907 - PubMed: Yasuda 2003 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106908 - PubMed: Ashton-Prolla 2000 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106909 - PubMed: Schafer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106910 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106911 - PubMed: Ploos van Amstel 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106912 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106913 - PubMed: Germain 1999 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106914 - PubMed: Shabbeer 2002 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106915 - PubMed: Shabbeer 2002 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106916 - PubMed: Blanch 1996 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106917 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106918 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106919 - PubMed: Eng 1993 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106920 - PubMed: Davies 1996 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106921 - PubMed: Schafer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106922 - PubMed: Blaydon 2001 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106923 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106924 - PubMed: Ashley 2001 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106925 - PubMed: Vedder 2007 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106926 - PubMed: Dobrovolny 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106927 - PubMed: Rakoczi 2007 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106928 - PubMed: Davies 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106929 - PubMed: Rodriguez-Mari 2003 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106930 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106931 - PubMed: Park 2009 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106932 - PubMed: Redonnet-Vernhet 1996 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106933 - PubMed: Shimotori 2008 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106934 - PubMed: Shabbeer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106935 - PubMed: Shabbeer 2002 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106936 - PubMed: Topaloglu 1999 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106937 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106938 - PubMed: Eng 1993 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106939 - PubMed: Shabbeer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106940 - PubMed: Germain 2002 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106941 - PubMed: Ashton-Prolla 2000 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106942 - PubMed: Lee 2000 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106943 - PubMed: Eng 1993 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106944 - PubMed: Erdos 2008 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106945 - PubMed: Vedder 2007 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106946 - Kwan 2007, abstract - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106947 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106948 - PubMed: Davies 1996 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106949 - PubMed: Ashley 2001 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106950 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106951 - PubMed: Burlina 2008 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106952 - PubMed: Davies 1996 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106953 - PubMed: Shabbeer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106954 - PubMed: Shabbeer 2006 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106955 - PubMed: Schafer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106956 - PubMed: Shabbeer 2002 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106957 - PubMed: Rodriguez-Mari 2003 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106958 - PubMed: Eng 1994 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106959 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106960 - PubMed: Spada 2006 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106961 - PubMed: Schafer 2005 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106962 - PubMed: Ishii 1992 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106963 - PubMed: Eng 1997 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106964 - PubMed: Blaydon 2001 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106965 - Cooper 2000, HGOL - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106966 - PubMed: Auray-Blais 2008 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106967 - PubMed: Kawano 2007 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
00106968 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - - - - - 0 - - Fabry - 1 1 LOVD-team, but with Curator vacancy
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