Disease #05811 (Crigler-Najjar (Crigler-Najjar syndrome))

Official abbreviation	Crigler-Najjar
Name	Crigler-Najjar syndrome
OMIM ID	-
Inheritance	Autosomal recessive
Individuals reported having this disease	175
Phenotype entries for this disease	173
Associated with 1 gene	UGT1A1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2020-08-13 15:57:11 +02:00 (CEST)
Date last edited	2022-05-30 21:30:16 +02:00 (CEST)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

175 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00307432	Fam8PatLP7	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	Crigler-Najjar	unconjugated hyperbilirubinemia but additionally biliary liver cirrhosis	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00307433	Fam8PatLP27	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	Crigler-Najjar	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00307434	Fam8PatLP28	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	Crigler-Najjar	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00307435	Fam8PatLP49	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	Crigler-Najjar	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00307436	Fam9PatLP74	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	Crigler-Najjar	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428676	FamPat395	PubMed: Maruo 2003	4-generation family, 4 affected (2F, 2M)	F	-	China	-	-	-	-	-	Crigler-Najjar	see paper; ...	UGT1A1	UGT1A1	1	4	Johan den Dunnen
00428681	PatCR	PubMed: Rosatelli 1997	-	-	-	Italy	Sardinia	-	-	-	-	Crigler-Najjar	see paper; ...	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428682	PatPL	PubMed: Rosatelli 1997	-	-	-	Italy	Sardinia	-	-	-	-	Crigler-Najjar	see paper; ...	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428683	PatPE/PA	PubMed: Rosatelli 1997	2-generation family, 2 affected sibs	-	-	Italy	Sardinia	-	-	-	-	Crigler-Najjar	see paper; ...	UGT1A1	UGT1A1	2	2	Johan den Dunnen
00428684	FamPEdPatIII10	PubMed: Rosatelli 1997	3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	M	-	Italy	Sardinia	-	-	-	-	Crigler-Najjar	see paper; ...	UGT1A1	UGT1A1	1	3	Johan den Dunnen
00428692	Pat2	PubMed: Yamamoto 1998	2-generation family, 3 affected sisters	F	yes	Japan	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	3	Johan den Dunnen
00428693	FamPat3	PubMed: Yamamoto 1998	sister	F	yes	Japan	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00428694	FamPat4	PubMed: Yamamoto 1998	sister	F	yes	Japan	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00428695	Pat5	PubMed: Yamamoto 1998	-	F	yes	Japan	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00428696	Pat6	PubMed: Yamamoto 1998	-	M	-	Japan	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00428697	Pat7	PubMed: Yamamoto 1998	-	M	-	Japan	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428698	Pat1	PubMed: Yamamoto 1998	-	M	-	Japan	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428701	PatA	PubMed: Gantla 1998	-	-	-	United States	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428702	PatB	PubMed: Gantla 1998	-	-	-	United States	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428703	family	PubMed: Huang 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Taiwan	-	-	-	-	-	Crigler-Najjar	see paper; ..., deep hyperbilirubinemia	UGT1A1	UGT1A1	2	3	Johan den Dunnen
00428706	FamPat5	PubMed: Bosma 1993, PubMed: Bosma 1995	4-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents/relatives	M	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper; ..., jaundice since birth	UGT1A1	UGT1A1	1	15	Johan den Dunnen
00428707	PatI	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	F	-	Portugal	-	-	-	-	-	Crigler-Najjar	see paper; ..., cerebellar symptoms, intellectual disability (IQ 80); successful liver transplant	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428708	PatII	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	F	-	Portugal	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428709	PatIII	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	F	yes	Tunisia	-	-	-	-	-	Crigler-Najjar	see paper; ..., cerebellar symptoms, intellectual disability (IQ 80)	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428710	PatIV	PubMed: Labrune 1994	2-generation family, 2 affected sisters, unaffected parents	F	yes	Tunisia	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	2	Johan den Dunnen
00428711	PatV	PubMed: Labrune 1994	2-generation family, 3 affected brothers, unaffected parents	M	yes	Turkey	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	3	Johan den Dunnen
00428712	PatVIa	PubMed: Labrune 1994	2-generation family, 2 affected (sister/brother)	F	yes	Italy	-	-	-	-	-	Crigler-Najjar	see paper; ..., dysarthria, seizures	UGT1A1	UGT1A1	1	2	Johan den Dunnen
00428713	PatVII	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	M	yes	France	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428714	PatVIII	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	M	yes	France	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428715	PatIX	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	M	-	France	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428716	PatX	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	M	-	France	-	-	-	-	-	Crigler-Najjar	see paper; ..., cerebellar symptoms, intellectual disability (IQ 80)	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428717	PatXI	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	M	-	France	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428718	PatXII	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	F	-	France	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428719	PatXIII	PubMed: Labrune 1994	2-generation family, 1 affected, unaffected parents	F	-	France	-	-	-	-	-	Crigler-Najjar	see paper; ..., died, kernicterus	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428720	PatCN	PubMed: Aono 1994	-	M	-	Japan	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428721	PatA	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428722	PatB	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428723	PatC	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428725	PatD	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428726	PatE	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428727	PatF	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428728	PatG	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428729	PatH	PubMed: Seppen 1994	-	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428736	PatA	PubMed: Seppen 1996	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428737	PatB	PubMed: Seppen 1996	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Netherlands	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428744	PatBG	PubMed: Ciotti 1997	-	-	-	El Salvador	-	-	-	-	-	Crigler-Najjar, Crigler-Najjar I	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428745	PatGD	PubMed: Ciotti 1997	-	-	-	United States	African-American	-	-	-	-	Crigler-Najjar, Crigler-Najjar I	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428746	PatYA	PubMed: Ciotti 1997	-	M	-	Turkey	-	-	-	-	-	Crigler-Najjar, Crigler-Najjar I	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428747	PatSS	PubMed: Ciotti 1995	-	-	-	United States	-	-	-	-	-	Crigler-Najjar, Crigler-Najjar I	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428748	PatCF	PubMed: Ciotti 1998	-	F	-	Italy	-	-	-	-	-	Crigler-Najjar, Crigler-Najjar I	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428749	PatSM	PubMed: Ciotti 1998	-	-	-	Italy	-	-	-	-	-	Crigler-Najjar, Crigler-Najjar II	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428750	PatTS	PubMed: Ciotti 1999	-	-	-	United States	African-American	-	-	-	-	Crigler-Najjar, Crigler-Najjar II	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428765	patient;Pat12	PubMed: Labrune 2002, PubMed: Petit 2006	-	F	-	Morocco	-	-	-	-	-	Crigler-Najjar, Crigler-Najjar II	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428766	patient	PubMed: Chalasani 1997	-	M	-	United States	white	-	-	-	-	Crigler-Najjar, Crigler-Najjar II	see paper	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428776	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428777	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428778	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428779	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428780	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00428781	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428782	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428783	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428784	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428785	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428786	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428787	-	PubMed: Kadakol 2000	-	-	-	-	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00428799	patient	PubMed: Sappal 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	Crigler-Najjar, Crigler-Najjar I	see paper	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430157	-	PubMed: Costa 2006	-	-	-	Portugal	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430230	PatGR	PubMed: Ritter 1993	-	-	-	United States	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430231	patient	PubMed: Iolascon 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Italy	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430232	FamPatJB	PubMed: Ritter 1992	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	yes	United States	-	-	-	-	-	Crigler-Najjar	see paper	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430233	PatCN1-1	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430234	PatCN1-2	PubMed: Servedio 2005	-	-	yes	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430235	PatCN1-3	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430236	PatCN1-4	PubMed: Servedio 2005	-	-	yes	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430237	PatCN1-5	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430238	PatCN1-6	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430239	PatCN1-7	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430240	PatCN1-8	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430241	PatCN1-9	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430242	PatCN1-10	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430243	PatCN1-11	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430244	PatCN1-12	PubMed: Servedio 2005	-	-	yes	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430245	PatCN1-13	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430246	PatCN1-14	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430247	PatCN1-15	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430248	PatCN2-1	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430249	PatCN2-2	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430250	PatCN2-3	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430251	PatCN2-4	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430252	PatCN2-5	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430253	PatCN2-6	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430254	PatCN2-7	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430255	PatCN2-8	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430256	PatCN2-9	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	1	1	Johan den Dunnen
00430257	PatCN2-10	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430258	PatCN2-11	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430259	PatCN2-12	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen
00430260	PatCN2-13	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	3	1	Johan den Dunnen
00430261	PatCN2-14	PubMed: Servedio 2005	-	-	no	Italy	-	-	-	-	-	Crigler-Najjar	-	UGT1A1	UGT1A1	2	1	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

TLR2 (toll-like receptor 2)