NDDVD - Neurodegenerative Diseases Variation Database
ALS2 (amyotrophic lateral sclerosis 2 (juvenile))
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Curator:
Y Yang
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All individuals with variants in gene ALS2
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
25 entries on 1 page. Showing entries 1 - 25.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00000607
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000608
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000609
-
-
-
ALS
-
1
1
Y Yang
00000610
Eymard-Pierre E1, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O.(2002)
-
-
ALS
-
1
1
Y Yang
00000611
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000613
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000614
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000615
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000616
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000617
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000618
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000619
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000621
-
-
-
ALS
-
1
1
Y Yang
00000622
Eymard-Pierre E1, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O.(2002)
-
-
ALS
-
1
1
Y Yang
00000623
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000624
"
Hadano S1, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J(2001)
-
-
ALS
-
1
1
Y Yang
00000625
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000626
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000627
Kress JA1, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U, Sperfeld AD.(2005)
juvenile
-
ALS
-
1
1
Y Yang
00000628
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000629
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000630
Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
-
-
ALS
-
1
1
Y Yang
00000631
"
Yang Y1, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F(2001)
-
-
ALS
-
1
1
Y Yang
00006260
Hiroyuki Tomiyama, Yasumasa Kokubo, Ryogen Sasaki, et al.
Japanese
-
ALS
-
1
1
XY Liu
00006638
Yousef Daneshmandpour, et al. (2023)
Iranian Kurdish
-
ALS
-
1
1
XY Liu
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