Disease #00011 (GSS (Gerstmann-Straussler-Scheinker Disease), OMIM:137440)

Official abbreviation	GSS
Name	Gerstmann-Straussler-Scheinker Disease
OMIM ID	137440
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	37
Phenotype entries for this disease	-
Associated with 1 gene	PRNP
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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37 entries on 1 page. Showing entries 1 - 37.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00001473	Hsiao K1, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB.(1989)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001474	Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001475	Tranchant C1, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter JM.(1991)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001476	Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001477	Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001478	Yamada M1, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.(1993)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001479	Panegyres PK1, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.(2001)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001480	Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001481	Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001482	Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001483	Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J.(1991)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001484	Kitamoto T1, Iizuka R, Tateishi J.(1993)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001485	Tanaka Y1, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H.(1997)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001486	Bratosiewicz J1, Barcikowska M, Cervenakowa L, Brown P, Gajdusek DC, Liberski PP.(2000)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001487	"Alzualde A1, Indakoetxea B, Ferrer I, Moreno F, Barandiaran M, Gorostidi A, Estanga A, Ruiz I, Calero M, van Leeuwen FW, Atares B, Juste R, Rodriguez-Martínez AB(2010)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001488	Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001489	Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001490	Collins S1, McLean CA, Masters CL.(2001)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001491	Jansen C1, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ.(2011)	Dutch	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001492	Kojovi? M, Glava? D, O?ek B, Zupan A, Popovi? M.(2011)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001493	Monaco S1, Fiorini M, Farinazzo A, Ferrari S, Gelati M, Piccardo P, Zanusso G, Ghetti B.(2012)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001494	Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00001495	Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013)	-	-	GSS	-	PRNP	PRNP	1	1	Y Yang
00005558	Riudavets MA et al. (2014)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005559	Cheng CJ et al. (2014)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005560	Cheng CJ et al. (2014)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005561	Jones M et al. (2014)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005562	Ando R et al. (2016)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005563	Pirisinu L et al. (2016)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005564	Pirisinu L et al. (2016)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005565	Pirisinu L et al. (2016)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005566	Mano KK et al. (2016)	-	-	GSS, PD	-	PRNP	PRNP	1	1	XY Liu
00005567	Deters KD et al. (2016)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005568	Deters KD et al. (2016)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005569	Sugiyama A et al. (2017)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005570	Long L et al. (2017)	southern China	-	GSS	-	PRNP	PRNP	1	1	XY Liu
00005571	Matamoros-Angles A et al. (2017)	-	-	GSS	-	PRNP	PRNP	1	1	XY Liu

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