All individuals with variants in gene APP

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.

74 entries on 1 page. Showing entries 1 - 74.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00000092	Peacock ML1, Murman DL, Sima AA, Warren JT Jr, Roses AD, Fink JK.(1994)	-	-	AD	-	1	1	Y Yang
00000093	Mullan M1, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L.(1992)	-	-	AD	-	1	1	Y Yang
00000094	Mullan M1, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L.(1992)	-	-	AD	-	1	1	Y Yang
00000095	Wakutani Y1, Watanabe K, Adachi Y, Wada-Isoe K, Urakami K, Ninomiya H, Saido TC, Hashimoto T, Iwatsubo T, Nakashima K.(2004)	-	-	AD	-	1	1	Y Yang
00000096	Hendriks L1, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, Warren A, McInnis MG, Antonarakis SE, Martin JJ, et al.(1992)	-	-	AD	-	1	1	Y Yang
00000097	Kamino K1, Orr HT, Payami H, Wijsman EM, Alonso ME, Pulst SM, Anderson L, O'dahl S, Nemens E, White JA, et al.(1992)	-	-	AD	-	1	1	Y Yang
00000098	Balbín M1, Abrahamson M, Gustafson L, Nilsson K, Brun A, Grubb A.(1992)	-	-	AD	-	1	1	Y Yang
00000099	Rossi G1, Giaccone G, Maletta R, Morbin M, Capobianco R, Mangieri M, Giovagnoli AR, Bizzi A, Tomaino C, Perri M, Di Natale M, Tagliavini F, Bugiani O, Bruni AC.(2004)	-	-	AD	-	1	1	Y Yang
00000100	Pasalar P1, Najmabadi H, Noorian AR, Moghimi B, Jannati A, Soltanzadeh A, Krefft T, Crook R, Hardy J.(2002)	-	-	AD	-	1	1	Y Yang
00000101	"Kumar-Singh S1, De Jonghe C, Cruts M, Kleinert R, Wang R, Mercken M, De Strooper B, Vanderstichele H, L?fgren A, Vanderhoeven I, Backhovens H, Vanmechelen E, Kroisel PM(2000)	-	-	AD	-	1	1	Y Yang
00000102	Ancolio K1, Dumanchin C, Barelli H, Warter JM, Brice A, Campion D, Frébourg T, Checler F.(1999)	-	-	AD	-	1	1	Y Yang
00000103	Eckman CB1, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J.(1997)	-	-	AD	-	1	1	Y Yang
00000104	Murrell J1, Farlow M, Ghetti B, Benson MD.(1991)	-	-	AD	-	1	1	Y Yang
00000105	Chartier-Harlin MC1, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al.(1991)	-	-	AD	-	1	1	Y Yang
00000106	Goate A1, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, et al.(1991)	-	-	AD	-	1	1	Y Yang
00000107	Murrell JR1, Hake AM, Quaid KA, Farlow MR, Ghetti B.(2000)	-	-	AD	-	1	1	Y Yang
00000108	Kwok JB1, Li QX, Hallupp M, Whyte S, Ames D, Beyreuther K, Masters CL, Schofield PR.(2000)	-	-	AD	-	1	1	Y Yang
00000206	Hooli BV1, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L.(2012)	-	-	AD	-	1	1	Y Yang
00000207	Di Fede G1, Catania M, Morbin M, Giaccone G, Moro ML, Ghidoni R, Colombo L, Messa M, Cagnotto A, Romeo M, Stravalaci M, Diomede L, Gobbi M, Salmona M, Tagliavini F.(2012)	-	-	AD	-	1	1	Y Yang
00000208	Luedecke D1, Becktepe JS1, Lehmbeck JT1, Finckh U2, Yamamoto R2, Jahn H1, Boelmans K3.(2014)	-	-	AD	-	1	1	Y Yang
00000209	Luedecke D1, Becktepe JS1, Lehmbeck JT1, Finckh U2, Yamamoto R2, Jahn H1, Boelmans K3.(2014)	-	-	AD	-	1	1	Y Yang
00000210	Luedecke D1, Becktepe JS1, Lehmbeck JT1, Finckh U2, Yamamoto R2, Jahn H1, Boelmans K3.(2014)	-	-	AD	-	1	1	Y Yang
00000249	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
00000250	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
00000251	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
00000252	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
00000253	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
00000254	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
00000255	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
00000256	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
00004769	Conidi ME et al. (2015)	-	-	AD	-	1	1	XY Liu
00004770	Di Fede G et al. (2009)	-	-	AD	-	1	1	XY Liu
00004775	Lee JH et al. (2014)	-	-	AD	-	1	1	XY Liu
00004776	Lee JH et al. (2014)	-	-	AD	-	1	1	XY Liu
00004777	Lee JH et al. (2014)	-	-	AD	-	1	1	XY Liu
00004784	Schütz AK et al. (2015)	-	-	AD	-	1	1	XY Liu
00004787	Kutoku Y et al. (2015)	-	-	AD	-	1	1	XY Liu
00004792	Bugiani O et al. (2010)	Italian	-	AD	-	1	1	XY Liu
00004793	Grabowski TJ et al. (2001)	Iowa	-	AD	-	1	1	XY Liu
00004794	Levy E et al. (1990)	Dutch	-	AD	-	1	1	XY Liu
00004809	Wang Q et al. (2015)	-	-	AD	-	1	1	XY Liu
00004810	Ryan NS et al. (2015)	-	-	AD	-	1	1	XY Liu
00004811	Ryan NS et al. (2015)	-	-	AD	-	1	1	XY Liu
00004812	Ryan NS et al. (2015)	-	-	AD	-	1	1	XY Liu
00004813	Ryan NS et al. (2015)	-	-	AD	-	1	1	XY Liu
00004814	Ryan NS et al. (2015)	-	-	AD	-	1	1	XY Liu
00004815	Ryan NS et al. (2015)	-	-	AD	-	1	1	XY Liu
00004839	Yagi-Utsumi M et al. (2015)	-	-	AD	-	1	1	XY Liu
00004846	Blauwendraat C et al.(2016)	-	-	AD	-	1	1	XY Liu
00004848	Kokawa A et al. (2015)	-	-	AD	-	1	1	XY Liu
00004851	Cimini S et al. (2016)	-	-	AD	-	1	1	XY Liu
00004878	Kalimo H et al. (2013)	-	-	AD	-	1	1	XY Liu
00004879	Sieczkowski E et al. (2015)	-	-	AD	-	1	1	XY Liu
00004892	Jakobsen JE et al. (2016)	-	-	AD	-	1	1	XY Liu
00004896	Ryan NS et al. (2016)	-	-	AD	-	1	1	XY Liu
00004897	Ryan NS et al. (2016)	-	-	AD	-	1	1	XY Liu
00004898	Ryan NS et al. (2016)	-	-	AD	-	1	1	XY Liu
00004899	Ryan NS et al. (2016)	-	-	AD	-	1	1	XY Liu
00004900	Ryan NS et al. (2016)	-	-	AD	-	1	1	XY Liu
00004901	Ryan NS et al. (2016)	-	-	AD	-	1	1	XY Liu
00004942	Bagyinszky E et al. (2016)	Korean	-	AD	-	1	1	XY Liu
00004954	Bagyinszky E et al. (2016)	Chinese	-	AD	-	1	1	XY Liu
00004955	Bagyinszky E et al. (2016)	Chinese	-	AD	-	1	1	XY Liu
00004956	Bagyinszky E et al. (2016)	Chinese	-	AD	-	1	1	XY Liu
00004957	Bagyinszky E et al. (2016)	Chinese	-	AD	-	1	1	XY Liu
00004971	Bagyinszky E et al. (2016)	Japanese	-	AD	-	1	1	XY Liu
00004972	Bagyinszky E et al. (2016)	Japanese	-	AD	-	1	1	XY Liu
00004973	Bagyinszky E et al. (2016)	Japanese	-	AD	-	1	1	XY Liu
00005003	Bagyinszky E et al. (2016)	Iranian	-	AD	-	1	1	XY Liu
00005004	Bagyinszky E et al. (2016)	Thai	-	AD	-	1	1	XY Liu
00005011	Zhang G et al. (2017)	Chinese Han	-	AD	-	1	1	XY Liu
00005012	Sellal F et al. (2017)	French	-	AD	-	1	1	XY Liu
00005013	Sellal F et al. (2017)	French	-	AD	-	1	1	XY Liu
00005014	Sellal F et al. (2017)	French	-	AD	-	1	1	XY Liu

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

APP (amyloid beta (A4) precursor protein)