Disease #00204 (AD (Alzheimer disease (AD)), OMIM:104300)

Official abbreviation	AD
Name	Alzheimer disease (AD)
OMIM ID	104300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	697
Phenotype entries for this disease	164
Associated with 12 genes	A2M, ACE, APBB2, APP, BLMH, HFE, MPO, NOS3, PAXIP1, PLAU, PRNP, SORL1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-09-24 20:52:38 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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.

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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!=""	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
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>=	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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697 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		Next ›	Last »

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
00004194	-	-	-	?	?	United States	-	-	-	-	-	AD	-	PRNP	PRNP	2	3	Johan den Dunnen
00024122	-	Journal: Masao 2012	large family, 9 affecteds	M	no	(Japan)	-	>53y	-	-	-	AD	age at onset 47y, mini-mental score 20/3, (RCPM) score 30/36, generalized cerebral atrophy, myoclonus and pyramidal signs	APP	APP	1	9	Silvia García
00034570	-	-	-	M	no	France	-	-	-	-	-	AD	Typical amnestic AD Positive family history of AD inpaternal grand father, censoring effect in father	PSEN1	PSEN1	1	1	Gael Nicolas
00034571	-	-	-	M	no	France	-	-	-	-	-	AD	Memory decline associated with progressive behavioral changes Paternal aunt: Alzheimer disease (AOO ~65 years)	PSEN1	PSEN1	1	1	Gael Nicolas
00034572	-	-	-	F	no	France	-	-	-	-	-	AD	typical AD with amnestic presentation	PSEN1	PSEN1	1	1	Gael Nicolas
00034573	-	-	-	M	no	France	-	-	-	-	-	AD	memory decline and biparietal posterior variant of AD; sporadic case (censoring effect, father)	PSEN2	PSEN2	1	1	Gael Nicolas
00046908	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases	-	-	-	-	-	-	-	-	AD	Early-onset Alzheimer disease	PLD3	PLD3	1	8	Rita Cacace
00046909	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	1	Rita Cacace
00046910	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	2	Rita Cacace
00046911	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	2	Rita Cacace
00046912	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	1	Rita Cacace
00046913	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	1	Rita Cacace
00046914	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	1	Rita Cacace
00046918	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	6	Rita Cacace
00046921	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	1	Rita Cacace
00046939	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	4	Rita Cacace
00046940	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	1	Rita Cacace
00046942	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	8	Rita Cacace
00046945	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	Alzheimer disease	PLD3	PLD3	1	1	Rita Cacace
00046946	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases and 3056 controls	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	2	Rita Cacace
00046949	-	PubMed: Cacace 2015, Journal: Cacace 2015	analysis 2464 AD cases	-	-	-	European	-	-	-	-	AD	-	PLD3	PLD3	1	31	Rita Cacace
00058829	-	-	-	F	no	-	-	-	-	-	-	AD	-	-	CCM2	1	1	Janneke Weiss
00103259	22472873-PatALZ426	PubMed: Pottier 2012, Journal: Pottier 2012	-	-	-	France	-	-	-	-	-	AD	autosomal dominant early-onset Alzheimer disease (ADEOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103260	22472873-PatEXT049	PubMed: Pottier 2012, Journal: Pottier 2012	-	-	-	France	-	-	-	-	-	AD	autosomal dominant early-onset Alzheimer disease (ADEOAD), familial	SORL1	SORL1	1	1	Johan den Dunnen
00103261	22472873-PatEXT181	PubMed: Pottier 2012, Journal: Pottier 2012	-	-	-	France	-	-	-	-	-	AD	autosomal dominant early-onset Alzheimer disease (ADEOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103262	22472873-PatEXT077	PubMed: Pottier 2012, Journal: Pottier 2012	-	-	-	France	-	-	-	-	-	AD	autosomal dominant early-onset Alzheimer disease (ADEOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103263	22472873-PatEXT050	PubMed: Pottier 2012, Journal: Pottier 2012	-	-	-	France	-	-	-	-	-	AD	autosomal dominant early-onset Alzheimer disease (ADEOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103264	22472873-PatALZ244	PubMed: Pottier 2012, Journal: Pottier 2012	-	-	-	France	-	-	-	-	-	AD	autosomal dominant early-onset Alzheimer disease (ADEOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103265	22472873-PatEXT017	PubMed: Pottier 2012, Journal: Pottier 2012	-	-	-	France	-	-	-	-	-	AD	autosomal dominant early-onset Alzheimer disease (ADEOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103328	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103329	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103330	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103331	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1280	Johan den Dunnen
00103332	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	50	Johan den Dunnen
00103333	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103334	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	2	Johan den Dunnen
00103335	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	F	-	Spain	European	-	-	-	-	AD	early onset (EOAD), disease durations >2y	SORL1	SORL1	1	1	Johan den Dunnen
00103336	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	6	Johan den Dunnen
00103337	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	F	-	Sweden	European	-	-	-	-	AD	earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103338	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	M	-	Belgium	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD), disease duration 16y	SORL1	SORL1	1	1	Johan den Dunnen
00103339	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103340	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103341	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103342	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	150	Johan den Dunnen
00103343	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103344	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	2	Johan den Dunnen
00103345	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	F	-	Spain	European	-	-	-	-	AD	earlyonset (EOAD), disease duaration >3y	SORL1	SORL1	1	1	Johan den Dunnen
00103346	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	3	Johan den Dunnen
00103347	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	6	Johan den Dunnen
00103348	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	F	-	Italy	European	-	-	-	-	AD	early onset (EOAD), disease duration >1y	SORL1	SORL1	1	1	Johan den Dunnen
00103349	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103350	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103351	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103352	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	176	Johan den Dunnen
00103353	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103354	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103355	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103356	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103357	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	50	Johan den Dunnen
00103358	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	F	-	Spain	European	-	-	-	-	AD	early onset (EOAD), disease duration >5y	SORL1	SORL1	1	1	Johan den Dunnen
00103359	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103360	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	25	Johan den Dunnen
00103361	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103362	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	577	Johan den Dunnen
00103363	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	828	Johan den Dunnen
00103364	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103365	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103366	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103367	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103368	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	50	Johan den Dunnen
00103369	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103370	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	3	Johan den Dunnen
00103371	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	F	-	Portugal	European	-	-	-	-	AD	early onset (EOAD), disease duration 6y	SORL1	SORL1	1	1	Johan den Dunnen
00103372	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103373	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103374	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	2	Johan den Dunnen
00103375	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103376	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103377	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103378	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103379	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	3	Johan den Dunnen
00103380	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	778	Johan den Dunnen
00103381	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103382	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103383	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	2	Johan den Dunnen
00103384	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103385	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	F	-	Belgium	European	-	-	-	-	AD	early onset (EOAD), disease duration >6y	SORL1	SORL1	1	1	Johan den Dunnen
00103386	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	5	Johan den Dunnen
00103387	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103388	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	24	Johan den Dunnen
00103389	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	2	Johan den Dunnen
00103390	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	75	Johan den Dunnen
00103391	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103392	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103393	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103394	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103395	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	12	Johan den Dunnen
00103396	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103397	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen
00103398	27026413-cases	PubMed: Verheijen 2016, Journal: Verheijen 2016	1255 EOAD cases	-	-	-	European	-	-	-	-	AD	autosomal dominant earlyonset (EOAD)	SORL1	SORL1	1	1	Johan den Dunnen

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Global Variome shared LOVD

CDKN2A (cyclin-dependent kinase inhibitor 2A)