Disease #00750 (ALGS1 (Alagille syndrome, type 1 (ALGS1)), OMIM:118450)

Official abbreviation	ALGS1
Name	Alagille syndrome, type 1 (ALGS1)
OMIM ID	118450
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	1004
Phenotype entries for this disease	384
Associated with 2 genes	JAG1, NOTCH2
Associated tissues	-
Disease features	autosomal dominant
Remarks	-
Date created	2014-09-25 23:29:40 +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.

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'

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1004 entries on 11 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11		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
00080970	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	ALGS1	Alagille syndrome (OMIM:118450)	JAG1	JAG1	1	1	Daniel Trujillano
00229452	-	-	mother and affected son	F	-	-	-	-	-	-	-	ALGS1	-	NOTCH2	NOTCH2	1	1	LOVD
00229453	-	-	mother and affected son	M	-	-	-	-	-	-	-	ALGS1	-	NOTCH2	NOTCH2	1	1	LOVD
00229454	-	-	grandmother, mother and daugther	F	-	-	-	-	-	-	-	ALGS1	-	NOTCH2	NOTCH2	1	1	LOVD
00229455	-	-	grandmother, mother and daugther	F	-	-	-	-	-	-	-	ALGS1	-	NOTCH2	NOTCH2	1	1	LOVD
00229456	-	-	grandmother, mother and daugther	F	-	-	-	-	-	-	-	ALGS1	-	NOTCH2	NOTCH2	1	1	LOVD
00239004	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239005	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239006	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239007	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239008	-	PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep.	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239009	-	-	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239010	-	PubMed: Warthen 2006	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239011	Pat1	PubMed: Lin 2012	-	-	-	Viet Nam	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239012	Pat5	PubMed: Bauer 2010	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239013	A59jf	484122	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239014	-	PubMed: Warthen 2006	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239016	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239050	A68r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239052	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239055	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239056	-	PubMed: Colliton 2001	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239058	-	PubMed: Colliton 2001	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239061	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239062	-	PubMed: Colliton 2001	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239065	-	-	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239071	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239072	-	PubMed: Colliton 2001	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239074	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239076	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239077	Pat2	PubMed: Lin 2012	-	-	-	Viet Nam	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239079	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239083	Pat19/ME	PubMed: Krantz 1998, PubMed: Krantz 1999	seen in a second proband in our cohort.	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239089	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239098	-	-	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239100	Pat3	PubMed: Lin 2012	-	-	-	Viet Nam	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239101	-	PubMed: Warthen 2006	-	-	-	-	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239102	-	PubMed: Gilbert 2019, Journal: Gilbert 2019	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239103	-	-	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Melissa Gilbert
00239241	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239242	FamG	PubMed: Oda 1997	-	-	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239243	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239244	FamB	PubMed: Oda 1997	-	-	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239245	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239246	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239247	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239248	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239249	Fam2	PubMed: Li 1997	-	M	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239250	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239251	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239252	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239253	-	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239254	-	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239255	-	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239256	-	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239257	-	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239258	Pat59	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239259	-	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239260	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239261	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239262	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239263	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239264	Pat61	PubMed: Ropke 2003	-	-	-	Germany	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239265	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239266	Pat6	PubMed: Liu 2007	-	-	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239267	-	PubMed: Krantz 1998	-	-	-	United States	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239268	Pat5	PubMed: Liu 2007	-	-	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239269	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239270	twins	PubMed: Kamath 2002	affected monozygotic twins	M	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	2	Johan den Dunnen
00239271	Pat7	PubMed: Liu 2007	-	-	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239272	-	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	-	JAG1	JAG1	1	1	Johan den Dunnen
00239273	Pat4	PubMed: Liu 2007	-	-	-	United States	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239274	patient	PubMed: Raas-Rothschild 2002	-	M	-	Israel	Arab Muslim	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239275	Pat15	PubMed: Pilia 1999	family	-	-	Italy	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	2	Johan den Dunnen
00239276	Pat8	PubMed: Onouchi 1999	-	-	-	Japan	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239277	FamA4	PubMed: Yuan 1998	-	-	-	Japan	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239278	FamN3	PubMed: Yuan 1998	2-generation family, affected father/daughter	F;M	-	Japan	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	2	Johan den Dunnen
00239279	FamY3	PubMed: Yuan 1998	2-generation family, affected mother/daughter	F	-	Japan	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	2	Johan den Dunnen
00239280	FamS5	PubMed: Yuan 1998	32-generation family, affected father and 2 daughters	F;M	-	Japan	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	3	Johan den Dunnen
00239281	FamO4	PubMed: Yuan 1998	2-generation family, affected father/twin brothers	M	-	Japan	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	3	Johan den Dunnen
00239282	A148	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239283	A125r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239284	A179	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239285	A13jf	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239286	A156	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239287	A131r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239288	A65r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239289	A180	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239290	A98v	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239291	A8r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239292	A177	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239293	A44n	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239294	A79v	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239295	A114r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239296	A89r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239297	A55n	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239298	A122v	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239299	A133r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239300	A78r	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239301	A145	PubMed: Crosnier 1999	-	-	-	France	-	-	-	-	-	ALGS1	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen

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Global Variome shared LOVD

MAP2K2 (mitogen-activated protein kinase kinase 2)