All individuals with variants in gene GAA

1356 entries on 14 pages. Showing entries 1 - 100.
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Age/Death     

VIP     

Data_av     

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Disease     

Phenotype details     

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Owner     
00000004 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 3 1 LOVD-team, but with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000083 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000084 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00100967 ? PubMed: Kostera-Pruszczyk 2006 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00100968 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Gabriel Torrealba Acosta
00100969 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Gabriel Torrealba Acosta
00100970 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - Healthy/Control - 1 1 Gabriel Torrealba Acosta
00100971 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100972 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100973 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100974 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100975 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100976 ? PubMed: Hermans 1994 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100977 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100978 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00100979 ? PubMed: Hermans 1991 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100980 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100981 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100982 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100983 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100984 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100985 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100986 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100987 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100988 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100989 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00100990 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100991 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100992 ? PubMed: Martiniuk 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100993 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100994 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100995 ? PubMed: Zhong 1991 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - GSD-2 severe 2 1 Arnold Reuser
00100996 ? PubMed: Hermans 1991, OMIM:var0003 2-generation family, 2 affecteds, unaffected heterozygous carrier parents - yes India - - 0 - - GSD-2 severe 1 2 Arnold Reuser
00100997 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100998 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00100999 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101000 ? PubMed: Tsujino 2000 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101001 ? PubMed: Shieh 1994 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101002 ? PubMed: Hermans 1993 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101003 ? PubMed: Hermans 1993 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101004 ? PubMed: Adams 1997 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101005 ? PubMed: Shieh 1998 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101006 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101007 ? PubMed: Hermans 1993 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - GSD-2 severe 2 1 Arnold Reuser
00101008 09521422-PatC PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe 5 1 Arnold Reuser
00101009 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101010 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101011 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101012 ? PubMed: Castro-Gago 1999 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101013 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101014 ? PubMed: Hermans 1993 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101015 ? PubMed: Becker 1998 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101016 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101017 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101018 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101019 ? PubMed: Hermans 1993 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101020 ? PubMed: Hermans 1994 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101021 ? PubMed: Kroos 1995 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101022 ? PubMed: Hirschhorn 1999 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101023 ? PubMed: Boerkoel 1995 - - - - - - 0 - - GSD-2 mild 1 1 Arnold Reuser
00101024 ? PubMed: Huie 1994b - - - - - - 0 - - GSD-2 mild 1 1 Arnold Reuser
00101025 ? PubMed: Kroos 1995 - - - - - - 0 - - GSD-2 mild 1 1 Arnold Reuser
00101026 ? PubMed: Stroppiano 2001 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101027 ? PubMed: Huie 1994b - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101028 ? PubMed: Huie 1994c - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101029 ? PubMed: Huie 1994 - - - - - - 0 - - GSD-2 intermediate 1 1 Arnold Reuser
00101030 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 intermediate 1 1 Arnold Reuser
00101031 ? PubMed: Hermans 1994 - - - - - - 0 - - GSD-2 intermediate 1 1 Arnold Reuser
00101032 ? PubMed: Huie 1994c - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101033 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101034 ? PubMed: Huie 1994c - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101035 ? PubMed: Huie 1998 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101036 ? PubMed: Huie 1994c - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101037 ? PubMed: Huie 1998 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101038 ? PubMed: Dagnino 2000 - - - Italy Sicilian - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101041 ? PubMed: Van der Kraan 1994 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101044 ? PubMed: Hirschhorn 1999 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101045 ? PubMed: Reuser 1995 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101046 ? PubMed: Hermans 1997 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101047 ? PubMed: Raben 1995 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101048 ? PubMed: Boerkoel 1995 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101049 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101050 ? PubMed: Boerkoel 1995 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101051 ? PubMed: Boerkoel 1995 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101052 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101053 ? PubMed: Reuser 1995 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101054 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101055 09521422-PatB PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe 2 1 Arnold Reuser
00101056 ? PubMed: Reuser 1995 - - - - - - 0 - - Healthy/Control - 1 1 Arnold Reuser
00101057 ? PubMed: Lin 1995 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101058 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe 1 1 Arnold Reuser
00101059 09521422-PatA PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe 2 1 Arnold Reuser
00101060 09521422-PatD PubMed: Reuser 1995, PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe 1 1 Arnold Reuser
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