Disease #00414 (PD (Parkinson disease, susceptibility to), OMIM:168600)

Official abbreviation	PD
Name	Parkinson disease, susceptibility to
OMIM ID	168600
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive, Multifactorial
Individuals reported having this disease	76
Phenotype entries for this disease	55
Associated with 5 genes	ADH1C, ATXN2, GBA, MAPT, TBP
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-06-15 21:26:13 +02:00 (CEST)
Date last edited	2023-10-27 16:16:06 +02:00 (CEST)

Individuals

Legend

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

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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76 entries on 1 page. Showing entries 1 - 76.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00001237	-	PubMed: Quadri 2013	4-generation family, affected brother/sister	-	yes	Italy	Sicily	-	-	-	-	PD	early-onset atypical Parkinsonism, no history of neurological diseases in pre-vious generations	SYNJ1	SYNJ1	35	2	Marialuisa Quadri
00017890	-	-	-	?	?	Germany	-	-	-	-	-	PD	-	DCTN1	DCTN1	1	1	Johan den Dunnen
00018545	-	PubMed: Quadri 2014	-	-	-	Italy	Sardinians	-	-	-	-	PD	-	SCAPER	SCAPER	1	32	Marialuisa Quadri
00018546	-	PubMed: Quadri 2014	-	-	-	Italy	Sardinians	-	-	-	-	PD	-	HYDIN	HYDIN	1	9	Marialuisa Quadri
00018547	-	PubMed: Quadri 2014	-	-	-	Italy	Sardinians	-	-	-	-	PD	-	UBE2H	UBE2H	1	14	Marialuisa Quadri
00018548	-	PubMed: Quadri 2014	-	-	-	Italy	Sardinians	-	-	-	-	PD	-	EZR	EZR	1	20	Marialuisa Quadri
00018549	-	PubMed: Quadri 2014	-	-	-	Italy	Sardinians	-	-	-	-	PD	-	MMRN2	MMRN2	1	9	Marialuisa Quadri
00018550	-	PubMed: Quadri 2014	-	-	-	Italy	Sardinians	-	-	-	-	PD	-	OGFOD1	OGFOD1	1	14	Marialuisa Quadri
00054710	-	-	5-generation family, affected brother/sister, unaffected heterozygous carrier parents	-	yes	India	north india	-	-	-	-	PD	rest tremor, bradykinesia, rigidity, postural instability, drooling of saliva, intense dyskinesia and dystonia	SYNJ1	SYNJ1	1	2	Thelma BK
00057182	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	2	Zafar Iqbal
00057183	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057184	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057185	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057186	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057187	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057188	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057189	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057190	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057191	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	5	Zafar Iqbal
00057192	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057193	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	3	Zafar Iqbal
00057194	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057195	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	APP	APP	1	1	Zafar Iqbal
00057196	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	FUS	FUS	1	1	Zafar Iqbal
00057197	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	GRN	GRN	1	1	Zafar Iqbal
00057198	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	GRN	GRN	1	1	Zafar Iqbal
00057199	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	1	Zafar Iqbal
00057200	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	3	Zafar Iqbal
00057201	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PTPRF	PTPRF	1	3	Zafar Iqbal
00057202	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	3	Zafar Iqbal
00057203	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	2	Zafar Iqbal
00057204	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	1	Zafar Iqbal
00057205	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	1	Zafar Iqbal
00057206	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	5	Zafar Iqbal
00057207	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	MAPT	MAPT	1	1	Zafar Iqbal
00057208	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN1	PSEN1	1	1	Zafar Iqbal
00057209	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN1	PSEN1	1	12	Zafar Iqbal
00057210	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN1	PSEN1	1	1	Zafar Iqbal
00057211	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN1	PSEN1	1	1	Zafar Iqbal
00057212	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN2	PSEN2	1	2	Zafar Iqbal
00057213	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN2	PSEN2	1	1	Zafar Iqbal
00057214	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN2	PSEN2	1	1	Zafar Iqbal
00057215	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	PSEN2	PSEN2	1	1	Zafar Iqbal
00057216	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	TARDBP	TARDBP	1	1	Zafar Iqbal
00065163	26942284-FamA-PatV2	PubMed: Lesage 2016, Journal: Lesage 2016	6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Turkey	-	>54y	-	-	-	PD	depression (HP:0000716), asymmetric akinetic rigid syndrome, no dystonia (-HP:0007325), no dyskinesia (-HP:0100660), early mental deterioration (HP:0001268), spatial disorientation (HP:0001289), slurred speech (HP:0001350), hallucinations (HP:0000738), dysautonomia (HP:0002459), urinary incontinence (HP:0000020), loss of speech (HP:0002371), Apathy (HP:0000741), Dysphagia (HP:0002015), Cachexia (HP:0004326), hyperactive deep tendon reflexes (HP:0006801), no pyramidal syndrome (-HP:0002071), asymmetric atrophy in frontal, parietal and temporal areas at expense of left side (HP:0002283)	VPS13C	VPS13C	1	1	Pieter Klap
00065167	26942284-FamBPatII1	PubMed: Lesage 2016, Journal: Lesage 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs	M	no	France	-	49y	-	-	-	PD	asymetric akineto rigid syndrome, Resting tremor (HP:0002322), limb dystonia (HP:0002451), dyskinesia (HP:0100660), mental deterioration (HP:0001268), dysautonomia (HP:0002459), pyramidal syndrome (HP:0002071), limb atrophy (HP:0007126); death due to aspiration pneumonia (HP:0011951)	VPS13C	VPS13C	2	1	Pieter Klap
00065171	26942284 II-1- Family C	PubMed: Lesage 2016, Journal: Lesage 2016	2-generation family, 1 affected, unaffected non-carrier mother (father deceased)	F	no	France	-	>25y	-	-	-	PD	asymetric akineto rigid syndrome, limb dystonia (HP:0002451), no dyskinesia (HP:0100660), mental deterioration (HP:0001268), slurred speech (HP:0001350), spastic tetraplegia (HP:0002510), normal MRI	VPS13C	VPS13C	2	1	Pieter Klap
00104581	17568014-FamFPD-116	PubMed: Charles 2007	3-generation family, 2 affecteds (2M) and 1 possibly affeted (M)	M	no	France	-	-	-	-	-	PD	see paper; ...	ATXN2	ATXN2	1	2	Johan den Dunnen
00104582	17568014-FamSAL-755	PubMed: Charles 2007	4-generation family, 4 affecteds (3F, M)	F;M	no	France	-	-	-	-	-	PD	see paper; ...	ATXN2	ATXN2	1	4	Johan den Dunnen
00104583	17568014-FamSAL-722	PubMed: Charles 2007	3-generation family, 8 affecteds (3F, 5M)	F;M	no	France	-	-	-	-	-	PD	see paper; ...	ATXN2	ATXN2	1	8	Johan den Dunnen
00104584	10993999-FamPat3004	PubMed: Gwinn-Hardy 2000	5-generation family, 9 affecteds (2F, 7M)	M	no	Taiwan	Chinese	-	-	-	-	PD	see paper; ..., mixed from prominent parkinsonism (with or without dopamine responsiveness and with little or no cerebellar findings) to less predominate cerebellar findings, with less parkinsonism	ATXN2	ATXN2	2	9	Johan den Dunnen
00148839	-	PubMed: Miravalle L 2002 PubMed: Takao M 2002	-	-	-	Japan	Asian	48y	-	-	-	AD, PD	-	PSEN1	PSEN1	1	2	Marc Cruts
00148853	-	PubMed: Jimenez-Escrig A 2002 PubMed: Jimenez-Escrig A 2002	-	-	-	Spain	white	42y	-	-	-	AD, PD	Subcortical atrophy	PSEN1	PSEN1	1	4	Marc Cruts
00148909	-	-	-	-	-	Japan	Asian	53y06m	-	-	-	FTD, PD	-	MAPT	MAPT	1	2	Marc Cruts
00148915	-	-	-	-	-	Japan	Asian	-	-	-	-	FTD, PD	-	MAPT	MAPT	1	1	Marc Cruts
00148917	-	-	-	-	-	-	white	34y06m	-	-	-	FTD, PD	Epileptic Seizures	MAPT	MAPT	1	3	Marc Cruts
00148956	-	-	-	-	-	-	white	-	-	-	-	FTD, PD	-	MAPT	MAPT	1	2	Marc Cruts
00148962	-	-	-	-	-	-	-	-	-	-	-	FTD, PD	-	MAPT	MAPT	1	1	Marc Cruts
00148964	-	-	-	-	-	United Kingdom (Great Britain)	white	42y	-	-	-	FTD, PD	-	MAPT	MAPT	1	1	Marc Cruts
00148965	-	-	-	-	-	Japan	Asian	54y	-	-	-	FTD, PD	-	MAPT	MAPT	1	1	Marc Cruts
00148993	-	-	-	-	-	United States	-	-	-	-	-	FTD, PD	-	MAPT	MAPT	1	1	Marc Cruts
00149013	-	-	-	-	-	Australia	white	60y04m	-	-	-	FTD, PD	-	MAPT	MAPT	1	1	Marc Cruts
00149027	-	-	Reduced penetrance possible	-	-	-	-	60y	-	-	-	?, PD	-	MAPT	MAPT	1	3	Marc Cruts
00149047	-	-	-	-	-	France	white	-	-	-	-	PD	-	MAPT	MAPT	1	1	Marc Cruts
00149238	-	-	-	-	-	Italy	white	82y	-	-	-	AD, PD	-	PSEN2	PSEN2	1	3	Marc Cruts
00149437	-	-	-	-	-	France	white	71y10m	-	-	-	FTD, PD	-	GRN	GRN	1	2	Marc Cruts
00149439	-	-	-	-	-	-	white (Belgian)	-	-	-	-	PD	-	GRN	GRN	1	1	Marc Cruts
00149440	-	-	-	-	-	-	white	-	-	-	-	PD	-	GRN	GRN	1	1	Marc Cruts
00210052	PD821	PubMed: Vadgama 2019, Journal: Vadgama 2019	-	M	-	-	-	-	-	-	-	PD	-	-	HTR6, UNC5C	2	1	Nirmal Vadgama
00435155	-	PubMed: Sidransky 2009	-	-	-	-	Ashkenazi Jews	-	-	-	-	PD	-	GBA	GBA	5	779	Jimena Urbano
00435161	patient	PubMed: Moon 2022	-	M	?	Korea, South (Republic)	Korea	-	-	-	-	PD	-	GBA	GBA	1	1	Jimena Urbano
00435183	-	PubMed: Sidransky 2009	-	-	-	-	-	-	-	-	-	PD	-	GBA	GBA	5	1682	Jimena Urbano
00457276	-	-	-	-	-	-	-	-	-	-	-	PD	-	GBA	GBA	1	1	Giada Cuconato
00464459	Pat1	PubMed: Yamamoto 2025	patient	F	-	Japan	-	-	-	-	-	PD	see paper; ..., mid 50's Parkinson	SLC9A6	SLC9A6	1	1	Johan den Dunnen
00464460	Pat2	PubMed: Yamamoto 2025	patient	F	-	Japan	-	-	-	-	-	PD	see paper; ..., early 50's Parkinson	SLC9A6	SLC9A6	1	1	Johan den Dunnen
00464461	Pat3	PubMed: Yamamoto 2025	patient	F	-	Japan	-	-	-	-	-	PD	see paper; ..., mid 40's Parkinson	SLC9A6	SLC9A6	1	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

C19orf73 (chromosome 19 open reading frame 73)