Disease #00019 (DLB (Lewy Body Dementia), OMIM:127750)

Official abbreviation	DLB
Name	Lewy Body Dementia
OMIM ID	127750
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	33
Phenotype entries for this disease	-
Associated with 9 genes	CYP2D6, DNAJC13, GBA, LRRK2, PRNP, PSEN1, PSEN2, SNCA, SNCB
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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'

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33 entries on 1 page. Showing entries 1 - 33.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00002207	"Zarranz JJ1, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atarés B, Llorens V, Gomez Tortosa E, del Ser T, Mu?oz DG(2004)	-	-	DLB	-	SNCA	SNCA	1	1	Y Yang
00002208	Yamaguchi K1, Cochran EJ, Murrell JR, Polymeropoulos MH, Shannon KM, Crowther RA, Goedert M, Ghetti B.(2005)	-	-	DLB	-	SNCA	SNCA	1	1	Y Yang
00002209	"Ohtake H1, Limprasert P, Fan Y, Onodera O, Kakita A, Takahashi H, Bonner LT, Tsuang DW, Murray IV, Lee VM, Trojanowski JQ, Ishikawa A, Idezuka J, Murata M, Toda T, Bird TD(2004)	-	-	DLB	-	SNCB	SNCB	1	1	Y Yang
00002210	"Ohtake H1, Limprasert P, Fan Y, Onodera O, Kakita A, Takahashi H, Bonner LT, Tsuang DW, Murray IV, Lee VM, Trojanowski JQ, Ishikawa A, Idezuka J, Murata M, Toda T, Bird TD(2004)	-	-	DLB	-	SNCB	SNCB	1	1	Y Yang
00002211	Chen X1, Xia Y, Alford M, DeTeresa R, Hansen L, Klauber MR, Katzman R, Thal L, Masliah E, Saitoh T.(1995)	-	-	DLB	-	CYP2D6	CYP2D6	1	1	Y Yang
00002212	Koide T1, Ohtake H, Nakajima T, Furukawa H, Sakai K, Kamei H, Makifuchi T, Fukuhara N.(2002)	-	-	DLB	-	PRNP	PRNP	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	-	PSEN2	PSEN2	1	1	Y Yang
00002214	Ishikawa A1, Piao YS, Miyashita A, Kuwano R, Onodera O, Ohtake H, Suzuki M, Nishizawa M, Takahashi H.(2005)	-	-	DLB	-	PSEN1	PSEN1	1	1	Y Yang
00002215	Mata IF1, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP.(2008)	-	-	DLB	-	GBA	GBA	1	1	Y Yang
00002216	Mata IF1, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP.(2008)	-	-	DLB	-	GBA	GBA	1	1	Y Yang
00002217	Farrer MJ1, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW.(2009)	-	-	DLB	-	GBA	GBA	1	1	Y Yang
00002218	Farrer MJ1, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW.(2009)	-	-	DLB	-	GBA	GBA	1	1	Y Yang
00002219	Farrer MJ1, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW.(2009)	-	-	DLB	-	GBA	GBA	1	1	Y Yang
00002220	D?chsel JC1, Ross OA, Mata IF, Kachergus J, Toft M, Cannon A, Baker M, Adamson J, Hutton M, Dickson DW, Farrer MJ.(2007)	-	-	DLB	-	LRRK2	LRRK2	1	1	Y Yang
00005660	Lorenzo-Betancor O et al. (2015)	-	-	DLB, PD	-	DNAJC13	DNAJC13	1	1	XY Liu
00005661	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005662	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005663	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005664	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005665	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005666	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005667	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005668	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005669	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005670	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005671	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005672	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005673	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005674	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005675	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005676	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005677	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu
00005678	Heckman MG et al. (2016)	-	-	DLB	-	LRRK2	LRRK2	1	1	XY Liu

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How to query

NDDVD - Neurodegenerative Diseases Variation Database

C10orf2 (chromosome 10 open reading frame 2)