All individuals with variants in gene ASPA

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.

80 entries on 1 page. Showing entries 1 - 80.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00000804	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000805	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000806	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000807	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000808	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000809	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000810	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000811	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000812	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000813	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000814	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000815	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000816	Rady PL1, Penzien JM, Vargas T, Tyring SK, Matalon R.(2000)	-	-	CD	-	1	1	Y Yang
00000817	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000818	Kaul R1, Gao GP, Balamurugan K, Matalon R.(1993)	-	-	CD	-	1	1	Y Yang
00000819	Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994)	-	-	CD	-	1	1	Y Yang
00000820	Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994)	-	-	CD	-	1	1	Y Yang
00000821	Kaul R1, Gao GP, Michals K, Whelan DT, Levin S, Matalon R.(1995)	-	-	CD	-	1	1	Y Yang
00000822	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000823	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000824	Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995)	-	-	CD	-	1	1	Y Yang
00000825	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000826	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000827	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000828	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000829	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000830	Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996)	-	-	CD	-	1	1	Y Yang
00000831	Kobayashi K1, Tsujino S, Ezoe T, Hamaguchi H, Nihei K, Sakuragawa N.(1998)	-	-	CD	-	1	1	Y Yang
00000832	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000833	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000834	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000835	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000836	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000837	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000838	Elpeleg ON1, Shaag A.(1999)	-	-	CD	-	1	1	Y Yang
00000839	Rady PL, Vargas T, Tyring SK, Matalon R, Langenbeck U.(1999)	-	-	CD	-	1	1	Y Yang
00000840	Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000)	-	-	CD	-	1	1	Y Yang
00000841	Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000)	-	-	CD	-	1	1	Y Yang
00000842	Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000)	-	-	CD	-	1	1	Y Yang
00000843	Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000)	-	-	CD	-	1	1	Y Yang
00000844	Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002)	-	-	CD	-	1	1	Y Yang
00000845	Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002)	-	-	CD	-	1	1	Y Yang
00000846	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000847	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000848	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000849	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000850	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000851	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000852	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000853	Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)	-	-	CD	-	1	1	Y Yang
00000854	Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005)	-	-	CD	-	1	1	Y Yang
00000855	Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005)	-	-	CD	-	1	1	Y Yang
00000856	Di Pietro V1, Gambacurta A, Amorini AM, Finocchiaro A, D'Urso S, Ceccarelli L, Tavazzi B, Giardina B, Lazzarino G.(2008)	-	-	CD	-	1	1	Y Yang
00000857	Zhang H1, Liu X, Gu X.(2010)	-	-	CD	-	1	1	Y Yang
00000858	Zhang H1, Liu X, Gu X.(2010)	-	-	CD	-	1	1	Y Yang
00000859	Di Pietro V1, Cavallari U, Amorini AM, Lazzarino G, Longo S, Poggiani C, Cavalli P, Tavazzi B.(2013)	-	-	CD	-	1	1	Y Yang
00000860	Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013)	-	-	CD	-	1	1	Y Yang
00000861	Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013)	Indian	-	CD	-	1	1	Y Yang
00000862	Eke GH1, Iscan A, Cece H, Calik M.(2012)	Turkish	-	CD	-	1	1	Y Yang
00000863	Hussain R1, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.(2012)	Pakistani	-	CD	-	1	1	Y Yang
00000864	Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011)	non-Jewish	-	CD	-	1	1	Y Yang
00000865	Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011)	-	-	CD	-	1	1	Y Yang
00000866	Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015)	-	-	CD	-	1	1	Y Yang
00000867	Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015)	-	-	CD	-	1	1	Y Yang
00005408	Dotan K et al. (2010)	-	-	CD	-	1	1	XY Liu
00005409	Zayed H (2015)	Ashkenazi Jewish	-	CD	-	1	1	XY Liu
00005410	Zayed H (2015)	Ashkenazi Jewish	-	CD	-	1	1	XY Liu
00005411	Zayed H (2015)	Greek, Turkish	-	CD	-	1	1	XY Liu
00005412	Zayed H (2015)	Greek	-	CD	-	1	1	XY Liu
00005413	Zayed H (2015)	Turkish	-	CD	-	1	1	XY Liu
00005414	Zayed H (2015)	Ecuador/Non-Jewish	-	CD	-	1	1	XY Liu
00005415	Zayed H (2015)	Non-Jewish (pan-European)	-	CD	-	1	1	XY Liu
00005416	Zayed H (2015)	British	-	CD	-	1	1	XY Liu
00005417	Zaki OK et al. (2016)	-	-	CD	-	1	1	XY Liu
00005418	Ashrafi M et al. (2015)	Iranian	-	CD	-	1	1	XY Liu
00005419	Gowda VK et al. (2016)	-	-	CD	-	1	1	XY Liu
00005420	Zaki OK et al. (2017)	-	-	CD	-	6	1	XY Liu
00005421	Zaki OK et al. (2017)	-	-	CD	-	2	1	XY Liu
00005422	Kocak A et al. (2017)	-	-	CD	-	1	1	XY Liu
00005423	Kocak A et al. (2017)	-	-	CD	-	1	1	XY Liu

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

ASPA (aspartoacylase)