NDDVD - Neurodegenerative Diseases Variation Database
MAPT (microtubule-associated protein tau)
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Curator:
Y Yang
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View MAPT gene homepage
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View all transcripts of gene MAPT
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View all variants affecting transcripts
View unique variants in gene MAPT
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View all individuals with variants in gene MAPT
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View all diseases associated with gene MAPT
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View available phenotype columns
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View all screenings for gene MAPT
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All individuals with variants in gene MAPT
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
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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.
111 entries on 2 pages. Showing entries 1 - 100.
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00001311
Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997)
-
-
FTLD
-
1
1
Y Yang
00001312
Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997)
-
-
FTLD
-
1
1
Y Yang
00001313
Reed LA1, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ.(1997)
-
-
FTLD
-
1
1
Y Yang
00001314
Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
-
-
FTLD
-
1
1
Y Yang
00001315
Rosso SM1, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC.(2002)
-
-
FTLD
-
1
1
Y Yang
00001316
Neumann M1, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.(2005)
-
-
FTLD
-
1
1
Y Yang
00001317
Giaccone G, Rossi G, Farina L, Marcon G, Di Fede G, Catania M, Morbin M, Sacco L, Bugiani O, Tagliavini F.(2005)
-
-
FTLD
-
1
1
Y Yang
00001318
Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL.(2007)
-
-
FTLD
-
1
1
Y Yang
00001319
Poorkaj P1, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD.(1998)
-
-
FTLD
-
1
1
Y Yang
00001320
"
Clark LN1, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Bird T.(1998)
-
-
FTLD
-
1
1
Y Yang
00001321
Iijima M1, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.(1999)
-
-
FTLD
-
1
1
Y Yang
00001322
Sperfeld AD1, Collatz MB, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph AC.(1999)
-
-
FTLD
-
1
1
Y Yang
00001323
Brown J1, Lantos PL, Roques P, Fidani L, Rossor MN.(1996)
-
-
FTLD
-
1
1
Y Yang
00001324
Lippa CF1, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM.(2000)
-
-
FTLD
-
1
1
Y Yang
00001325
Hayashi S1, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H.(2002)
-
-
FTLD
-
1
1
Y Yang
00001326
Kobayashi T1, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H.(2003)
-
-
FTLD
-
1
1
Y Yang
00001327
"
Zarranz JJ1, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O(2005)
-
-
FTLD
-
1
1
Y Yang
00001328
Rizzini C1, Goedert M, Hodges JR, Smith MJ, Jakes R, Hills R, Xuereb JH, Crowther RA, Spillantini MG.(2000)
-
-
FTLD
-
1
1
Y Yang
00001329
Iseki E1, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, Suzuki K, Sawada H, Arai T, Kosaka K.(2001)
-
-
FTLD
-
1
1
Y Yang
00001330
Neumann M1, Schulz-Schaeffer W, Crowther RA, Smith MJ, Spillantini MG, Goedert M, Kretzschmar HA.(2001)
-
-
FTLD
-
1
1
Y Yang
00001331
Pickering-Brown SM1, Baker M, Nonaka T, Ikeda K, Sharma S, Mackenzie J, Simpson SA, Moore JW, Snowden JS, de Silva R, Revesz T, Hasegawa M, Hutton M, Mann DM.(2004)
-
-
FTLD
-
1
1
Y Yang
00001332
Gallo M1, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.(2010)
-
-
FTLD
-
1
1
Y Yang
00001333
Momeni P1, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.(2010)
-
-
FTLD
-
1
1
Y Yang
00001334
Anfossi M1, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.(2011)
-
-
FTLD
-
1
1
Y Yang
00001335
"
Hutton M1, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies PJ(1998)
-
-
FTLD
-
1
1
Y Yang
00001336
"
Hutton M1, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies PJ(1998)
-
-
FTLD
-
1
1
Y Yang
00001337
"
Hutton M1, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies PJ(1998)
-
-
FTLD
-
1
1
Y Yang
00001338
Spillantini MG1, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B.(1998)
-
-
FTLD
-
1
1
Y Yang
00001339
"
Yasuda M1, Takamatsu J, D'Souza I, Crowther RA, Kawamata T, Hasegawa M, Hasegawa H, Spillantini MG, Tanimukai S, Poorkaj P, Varani L, Varani G, Iwatsubo T, Goedert M(2000)
-
-
FTLD
-
1
1
Y Yang
00001340
Tolnay M1, Grazia Spillantini M, Rizzini C, Eccles D, Lowe J, Ellison D.(2000)
-
-
FTLD
-
1
1
Y Yang
00001341
Miyamoto K1, Kowalska A, Hasegawa M, Tabira T, Takahashi K, Araki W, Akiguchi I, Ikemoto A.(2001)
-
-
FTLD
-
1
1
Y Yang
00001342
"
Anfossi M1, Vuono R, Maletta R, Virdee K, Mirabelli M, Colao R, Puccio G, Bernardi L, Frangipane F, Gallo M, Geracitano S, Tomaino C, Curcio SA, Zannino G, Lamenza F, Losso MA(2011)
-
-
FTLD
-
1
1
Y Yang
00001343
"
Anfossi M1, Vuono R, Maletta R, Virdee K, Mirabelli M, Colao R, Puccio G, Bernardi L, Frangipane F, Gallo M, Geracitano S, Tomaino C, Curcio SA, Zannino G, Lamenza F, Losso MA(2011)
-
-
FTLD
-
1
1
Y Yang
00001344
Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
-
-
FTLD
-
1
1
Y Yang
00001345
Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
-
-
FTLD
-
1
1
Y Yang
00001346
Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
-
-
FTLD
-
1
1
Y Yang
00001347
Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
-
-
FTLD
-
1
1
Y Yang
00001458
Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011)
-
-
FTLD
-
1
1
Y Yang
00001459
King A1, Al-Sarraj S, Troakes C, Smith BN, Maekawa S, Iovino M, Spillantini MG, Shaw CE.(2013)
-
-
FTLD
-
1
1
Y Yang
00001460
"
Di Fonzo A1, Ronchi D1, Gallia F1, Cribiù FM1, Trezzi I1, Vetro A1, Della Mina E1, Limongelli I1, Bellazzi R1, Ricca I1, Micieli G1, Fassone E1, Rizzuti M1, Bordoni A1(2014)
-
-
FTLD
-
1
1
Y Yang
00001461
Ishizuka T1, Nakamura M, Ichiba M, Sano A.(2011)
-
-
FTLD
-
1
1
Y Yang
00001471
Wierzba-Bobrowicz T1, Lewandowska E, Zaremba J, Berdyński M, ?ekanowski C, St?pień T, Felczak P, Tarka S.(2014)
Italian-Polish
-
FTLD
-
1
1
Y Yang
00003806
Petersen MS1, Guella I2, Bech S3, Gustavsson E4, Farrer MJ5.(2015)
Faroe Islands
-
PD
-
1
1
Y Yang
00003932
"
Bonifati V1, Joosse M, Nicholl DJ, Vanacore N, Bennett P, Rizzu P, Fabbrini G, Marconi R, Colosimo C, Locuratolo N, Stocchi F, Bonuccelli U, De Mari M, Wenning G, Vieregge P(1999)
-
-
PSP
-
1
1
Y Yang
00003933
Poorkaj P1, Muma NA, Zhukareva V, Cochran EJ, Shannon KM, Hurtig H, Koller WC, Bird TD, Trojanowski JQ, Lee VM, Schellenberg GD.(2002)
-
-
PSP
-
1
1
Y Yang
00003934
Higgins JJ1, Adler RL, Loveless JM.(1999)
-
-
PSP
-
1
1
Y Yang
00003935
Higgins JJ1, Adler RL, Loveless JM.(1999)
-
-
PSP
-
1
1
Y Yang
00003936
Ros R1, Thobois S, Streichenberger N, Kopp N, Sánchez MP, Pérez M, Hoenicka J, Avila J, Honnorat J, de Yébenes JG.(2005)
-
-
PSP
-
1
1
Y Yang
00003937
Donker Kaat L1, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.(2009)
-
-
PSP
-
1
1
Y Yang
00003938
Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011)
-
-
PSP
-
1
1
Y Yang
00003939
Pastor P1, Pastor E, Carnero C, Vela R, García T, Amer G, Tolosa E, Oliva R.(2001)
-
-
PSP
-
1
1
Y Yang
00003945
Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011)
-
-
PSP
-
1
1
Y Yang
00005102
Smith R et al. (2016)
-
Risk loci
AD
-
1
1
XY Liu
00005159
Barber IS et al. (2017)
-
associate
AD
-
1
1
XY Liu
00005168
Sala Frigerio C et al. (2015)
-
-
AD
-
1
1
XY Liu
00005169
Sala Frigerio C et al. (2015)
-
-
AD
-
1
1
XY Liu
00005555
Tacik P et al. (2016)
-
-
FTLD, PD
-
1
1
XY Liu
00005993
Kovacs GG et al.(2011)
-
A 63-year-old man
FTLD
-
1
1
XY Liu
00005994
Ikeuchi T et al. (2011)
-
with parkinsonism
FTLD
-
1
1
XY Liu
00005995
Bellucci A et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006001
Gauthier-Kemper A et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006002
Anfossi M et aL. (2011)
-
-
FTLD
-
1
1
XY Liu
00006014
Whitwell JL et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006015
Whitwell JL et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006016
Whitwell JL et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006017
Whitwell JL et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006018
Whitwell JL et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006019
Whitwell JL et al. (2011)
-
-
FTLD
-
1
1
XY Liu
00006032
Coppola G et al. (2012)
-
increasing the risk
AD, FTLD
-
1
1
XY Liu
00006038
Schulz KL et al. (2012)
-
-
FTLD
-
1
1
XY Liu
00006047
Sitek EJ et al. (2014)
-
parkinsonism
FTLD
-
1
1
XY Liu
00006050
Kimura T et al. (2013)
-
-
FTLD
-
1
1
XY Liu
00006051
Kimura T et al. (2013)
-
-
FTLD
-
1
1
XY Liu
00006053
Lee SE et aL. (2013)
-
-
AD, FTLD
-
1
1
XY Liu
00006059
Liang Y et al. (2014)
-
-
FTLD
-
1
1
XY Liu
00006061
Iyer A et al. (2013)
-
-
FTLD
-
1
1
XY Liu
00006071
Luo Y et al. (2014)
-
-
FTLD
-
1
1
XY Liu
00006074
Ishida C et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00006077
Behnam M et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00006079
Wren MC et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00006080
Pastor P et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006087
Domoto-Reilly K et al. (2017)
-
-
FTLD
-
1
1
XY Liu
00006091
Takada LT et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006092
Takada LT et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006093
Pir GJ et al. (2016)
-
a risk factor
FTLD, PSP
-
1
1
XY Liu
00006096
Rasmussen MA et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006097
Rasmussen MA et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006099
Nimsanor N et aL. (2016)
-
57-year-old female
FTLD
-
1
1
XY Liu
00006100
Nimsanor N et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006101
Sun L et al. (2017)
-
-
FTLD
-
1
1
XY Liu
00006102
Nimsanor N et al. (2016)
-
59-year-old female patient
FTLD
-
1
1
XY Liu
00006103
Nimsanor N et al. (2016)
-
28-year-old woman
FTLD
-
1
1
XY Liu
00006105
Spina S et al. (2017)
-
-
FTLD
-
1
1
XY Liu
00006106
Hallmann AL et al. (2017)
-
-
FTLD
-
1
1
XY Liu
00006109
Guven G et al. (2016)
Turkish
-
FTLD
-
1
1
XY Liu
00006110
Guven G et al. (2016)
Turkish
-
FTLD
-
1
1
XY Liu
00006111
Rademakers R et al. (2004)
-
-
FTLD
-
1
1
XY Liu
00006112
Grover A et al. (2003)
-
-
FTLD
-
1
1
XY Liu
00006113
van der Zee J et al. (2006)
-
-
FTLD
-
1
1
XY Liu
00006114
Cohn-Hokke PE et al. (2014)
-
-
FTLD
-
1
1
XY Liu
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