NDDVD - Neurodegenerative Diseases Variation Database
PSEN2 (presenilin 2)
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Curator:
Y Yang
View all genes
View PSEN2 gene homepage
View graphs about the PSEN2 gene database
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View all transcripts of gene PSEN2
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View all variants
View all variants affecting transcripts
View unique variants in gene PSEN2
View all variants in gene PSEN2
Full data view for gene PSEN2
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View active genomic custom columns
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View all individuals with variants in gene PSEN2
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View all diseases
View all diseases associated with gene PSEN2
Create a new disease information entry
View available phenotype columns
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View all screenings for gene PSEN2
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View active custom columns
Enable more custom columns
Submit new data
All individuals with variants in gene PSEN2
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.
38 entries on 1 page. Showing entries 1 - 38.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00000199
Cruts M1, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C.(1998)
-
-
AD
-
1
1
Y Yang
00000200
Piscopo P1, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.(2008)
-
-
AD
-
1
1
Y Yang
00000201
Finckh U1, Müller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A.(2000)
-
-
AD
-
1
1
Y Yang
00000202
Tedde A1, Nacmias B, Ciantelli M, Forleo P, Cellini E, Bagnoli S, Piccini C, Caffarra P, Ghidoni E, Paganini M, Bracco L, Sorbi S.(2003)
-
-
AD
-
1
1
Y Yang
00000203
Levy-Lahad E1, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al.(1995)
-
-
AD
-
1
1
Y Yang
00000204
Lao JI1, Beyer K, Fernández-Novoa L, Cacabelos R.(1998)
-
-
AD
-
1
1
Y Yang
00000205
Rogaev EI1, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al.(1995)
-
-
AD
-
1
1
Y Yang
00000244
Youn YC, Bagyinszky E, Kim H, Choi BO, An SS1, Kim S.(2014)
-
-
AD
-
1
1
Y Yang
00000245
Müller U, Winter P, Graeber MB.(2011)
German
-
AD
-
1
1
Y Yang
00000246
"
Wallon D1, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B(2012)
-
-
AD
-
1
1
Y Yang
00000247
"
Wallon D1, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B(2012)
-
-
AD
-
1
1
Y Yang
00000248
"
Wallon D1, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B(2012)
-
-
AD
-
1
1
Y Yang
00000322
Ryman DC1, Acosta-Baena N2, Aisen PS2, Bird T2, Danek A2, Fox NC2, Goate A2, Frommelt P2, Ghetti B2, Langbaum JB2, Lopera F2, Martins R2, Masters CL2, Mayeux RP2, McDade E2(2014)
-
-
AD
-
1
1
Y Yang
00000323
Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014)
-
-
AD
-
1
1
Y Yang
00000324
Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014)
-
-
AD
-
1
1
Y Yang
00000325
Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014)
-
-
AD
-
1
1
Y Yang
00002213
Piscopo P1, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.(2008)
-
-
DLB
-
1
1
Y Yang
00004772
Shi Z et al. (2015)
-
-
AD
-
1
1
XY Liu
00004773
Shi Z et al. (2015)
-
-
AD
-
1
1
XY Liu
00004774
Shi Z et al. (2015)
-
-
AD
-
1
1
XY Liu
00004780
Lee JH et al. (2014)
-
-
AD
-
1
1
XY Liu
00004781
Lee JH et al. (2014)
-
-
AD
-
1
1
XY Liu
00004782
Lee JH et al. (2014)
-
-
AD
-
1
1
XY Liu
00004791
Muchnik C et al. (2015)
-
-
AD
-
1
1
XY Liu
00004838
Xia M et al. (2015)
Chinese Han
-
AD
-
1
1
XY Liu
00004843
Blauwendraat C et al.(2016)
-
-
AD
-
1
1
XY Liu
00004844
Blauwendraat C et al.(2016)
-
-
AD
-
1
1
XY Liu
00004845
Blauwendraat C et al.(2016)
-
-
AD
-
1
1
XY Liu
00004883
Marín-Muñoz J et al. (2016)
-
-
AD
-
1
1
XY Liu
00004952
Bagyinszky E et al. (2016)
Korean
-
AD
-
1
1
XY Liu
00004953
Bagyinszky E et al. (2016)
Korean
-
AD
-
1
1
XY Liu
00004966
Bagyinszky E et al. (2016)
Chinese
-
AD
-
1
1
XY Liu
00004967
Bagyinszky E et al. (2016)
Chinese
-
AD
-
1
1
XY Liu
00004968
Bagyinszky E et al. (2016)
Chinese
-
AD
-
1
1
XY Liu
00004969
Bagyinszky E et al. (2016)
Chinese
-
AD
-
1
1
XY Liu
00004970
Bagyinszky E et al. (2016)
Chinese
-
AD
-
1
1
XY Liu
00005018
An SS et al. (2016)
Korean
-
AD
-
1
1
XY Liu
00005019
An SS et al. (2016)
Korean
-
AD
-
1
1
XY Liu
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How to query
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