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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00292644 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
191 |
Mohammed Faruq |
00292645 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
00292646 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
40 |
Mohammed Faruq |
00292647 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
8 |
Mohammed Faruq |
00304801 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
19 |
Mohammed Faruq |
00304802 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
4 |
Mohammed Faruq |
00306850 |
P19 |
PubMed: Trabelsi 2021, Journal: Trabelsi 2021 |
- |
M |
- |
Tunisia |
- |
- |
- |
- |
- |
Crigler-Najjar I |
severe unconjugated hyperbilirubinemia, nuclear kernicterus |
2 |
1 |
Nawel Trabelsi |
00306851 |
P13 |
PubMed: Trabelsi 2021, Journal: Trabelsi 2021 |
- |
M |
no |
Tunisia |
- |
- |
- |
- |
- |
anemia, Gilbert syndrome |
Anemia, unconjugated hyperbilirubinemia, kernicterus |
1 |
1 |
Nawel Trabelsi |
00306852 |
P16 |
PubMed: Trabelsi 2021, Journal: Trabelsi 2021 |
- |
F |
yes |
Tunisia |
- |
- |
- |
- |
- |
Gilbert syndrome |
Kernicterus, anemia, unconjugated hyperbilirubinemia |
1 |
1 |
Nawel Trabelsi |
00307432 |
Fam8PatLP7 |
PubMed: Stalke 2018 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
Crigler-Najjar |
unconjugated hyperbilirubinemia but additionally biliary liver cirrhosis |
1 |
1 |
Johan den Dunnen |
00307433 |
Fam8PatLP27 |
PubMed: Stalke 2018 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
Crigler-Najjar |
unconjugated hyperbilirubinemia but additionally elevated liver enzymes |
1 |
1 |
Johan den Dunnen |
00307434 |
Fam8PatLP28 |
PubMed: Stalke 2018 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
Crigler-Najjar |
unconjugated hyperbilirubinemia but additionally elevated liver enzymes |
1 |
1 |
Johan den Dunnen |
00307435 |
Fam8PatLP49 |
PubMed: Stalke 2018 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
Crigler-Najjar |
unconjugated hyperbilirubinemia but additionally elevated liver enzymes |
1 |
1 |
Johan den Dunnen |
00307436 |
Fam9PatLP74 |
PubMed: Stalke 2018 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
Crigler-Najjar |
unconjugated hyperbilirubinemia but additionally elevated liver enzymes |
1 |
1 |
Johan den Dunnen |
00307460 |
Fam34PatLP164 |
PubMed: Stalke 2018 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
cholestatic liver disease (low gamma-glutamyltransferase) with unconjugated and conjugated hyperbilirubinemia |
2 |
1 |
Johan den Dunnen |
00308698 |
- |
PubMed: Le 2019 |
analysis 305 unrelated individuals |
- |
- |
Viet Nam |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00310611 |
patient |
PubMed: Haddad 2017 |
- |
M |
- |
Tunisia |
- |
- |
- |
- |
- |
thal |
see paper; ..., 38y-mild b-thalassemia intermedia, mild anemia, never required blood transfusion or hydroxyurea (HU) therapy |
1 |
1 |
Johan den Dunnen |
00326805 |
Fam3P18 |
PubMed: Trabelsi 2021, Journal: Trabelsi 2021 |
- |
M |
- |
Tunisia |
- |
- |
- |
- |
- |
anemia |
- |
6 |
1 |
Nawel Trabelsi |
00410939 |
patient |
Journal: Appak 2022 |
analysis 56 Gilbert syndrome cases |
- |
- |
Turkey |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00410940 |
patient |
Journal: Appak 2022 |
analysis 56 Gilbert syndrome cases |
- |
- |
Turkey |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00410941 |
patient |
Journal: Appak 2022 |
analysis 56 Gilbert syndrome cases |
- |
- |
Turkey |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00410942 |
patients |
Journal: Appak 2022 |
analysis 56 Gilbert syndrome cases |
- |
- |
Turkey |
- |
- |
- |
- |
- |
Gilbert syndrome |
mildly elevated bilirubin levels |
1 |
11 |
Johan den Dunnen |
00410943 |
patients |
Journal: Appak 2022 |
analysis 56 Gilbert syndrome cases |
- |
- |
Turkey |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
37 |
Johan den Dunnen |
00410944 |
patients |
Journal: Appak 2022 |
analysis 56 Gilbert syndrome cases |
- |
- |
Turkey |
- |
- |
- |
- |
- |
Gilbert syndrome |
no complaints and hyperbilirubinemia |
2 |
1 |
Johan den Dunnen |
00428676 |
FamPat395 |
PubMed: Maruo 2003 |
4-generation family, 4 affected (2F, 2M) |
F |
- |
China |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper; ... |
1 |
4 |
Johan den Dunnen |
00428677 |
FamPat23/26/47 |
PubMed: Maruo 2003 |
affected sister/brother/father |
F;M |
- |
China |
- |
- |
- |
- |
- |
Gilbert syndrome |
see paper; ... |
3 |
3 |
Johan den Dunnen |
00428681 |
PatCR |
PubMed: Rosatelli 1997 |
- |
- |
- |
Italy |
Sardinia |
- |
- |
- |
- |
Crigler-Najjar |
see paper; ... |
1 |
1 |
Johan den Dunnen |
00428682 |
PatPL |
PubMed: Rosatelli 1997 |
- |
- |
- |
Italy |
Sardinia |
- |
- |
- |
- |
Crigler-Najjar |
see paper; ... |
1 |
1 |
Johan den Dunnen |
00428683 |
PatPE/PA |
PubMed: Rosatelli 1997 |
2-generation family, 2 affected sibs |
- |
- |
Italy |
Sardinia |
- |
- |
- |
- |
Crigler-Najjar |
see paper; ... |
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; ... |
1 |
3 |
Johan den Dunnen |
00428685 |
FamPEdPatIII6/7 |
nephew/niece |
PubMed: Rosatelli 1997 |
F;M |
- |
Italy |
Sardinia |
- |
- |
- |
- |
Gilbert syndrome |
see paper; ... |
2 |
2 |
Johan den Dunnen |
00428686 |
PatHS |
PubMed: Koiwai 1995 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00428687 |
PatSY |
PubMed: Koiwai 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00428688 |
PatMN |
PubMed: Koiwai 1995 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00428689 |
PatYT |
PubMed: Koiwai 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00428690 |
PatYK |
PubMed: Koiwai 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00428691 |
PatXS |
PubMed: Koiwai 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
- |
1 |
1 |
Johan den Dunnen |
00428692 |
Pat2 |
PubMed: Yamamoto 1998 |
2-generation family, 3 affected sisters |
F |
yes |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
- |
3 |
3 |
Johan den Dunnen |
00428693 |
FamPat3 |
PubMed: Yamamoto 1998 |
sister |
F |
yes |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
- |
3 |
1 |
Johan den Dunnen |
00428694 |
FamPat4 |
PubMed: Yamamoto 1998 |
sister |
F |
yes |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
- |
3 |
1 |
Johan den Dunnen |
00428695 |
Pat5 |
PubMed: Yamamoto 1998 |
- |
F |
yes |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
- |
3 |
1 |
Johan den Dunnen |
00428696 |
Pat6 |
PubMed: Yamamoto 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
- |
3 |
1 |
Johan den Dunnen |
00428697 |
Pat7 |
PubMed: Yamamoto 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
- |
2 |
1 |
Johan den Dunnen |
00428698 |
Pat1 |
PubMed: Yamamoto 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
- |
2 |
1 |
Johan den Dunnen |
00428701 |
PatA |
PubMed: Gantla 1998 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428702 |
PatB |
PubMed: Gantla 1998 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
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 |
2 |
3 |
Johan den Dunnen |
00428704 |
family |
PubMed: Huang 2001 |
brother |
M |
- |
Taiwan |
- |
- |
- |
- |
- |
? |
serum bilirubin concentration slightly elevated |
2 |
1 |
Johan den Dunnen |
00428705 |
family |
PubMed: Huang 2001 |
father |
M |
- |
Taiwan |
- |
- |
- |
- |
- |
Healthy/Control |
- |
2 |
1 |
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 |
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 |
1 |
1 |
Johan den Dunnen |
00428708 |
PatII |
PubMed: Labrune 1994 |
2-generation family, 1 affected, unaffected parents |
F |
- |
Portugal |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
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) |
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 |
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 |
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 |
1 |
2 |
Johan den Dunnen |
00428713 |
PatVII |
PubMed: Labrune 1994 |
2-generation family, 1 affected, unaffected parents |
M |
yes |
France |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428714 |
PatVIII |
PubMed: Labrune 1994 |
2-generation family, 1 affected, unaffected parents |
M |
yes |
France |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428715 |
PatIX |
PubMed: Labrune 1994 |
2-generation family, 1 affected, unaffected parents |
M |
- |
France |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
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) |
2 |
1 |
Johan den Dunnen |
00428717 |
PatXI |
PubMed: Labrune 1994 |
2-generation family, 1 affected, unaffected parents |
M |
- |
France |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
2 |
1 |
Johan den Dunnen |
00428718 |
PatXII |
PubMed: Labrune 1994 |
2-generation family, 1 affected, unaffected parents |
F |
- |
France |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
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 |
2 |
1 |
Johan den Dunnen |
00428720 |
PatCN |
PubMed: Aono 1994 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428721 |
PatA |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428722 |
PatB |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
2 |
1 |
Johan den Dunnen |
00428723 |
PatC |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428725 |
PatD |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428726 |
PatE |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428727 |
PatF |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428728 |
PatG |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428729 |
PatH |
PubMed: Seppen 1994 |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
2 |
1 |
Johan den Dunnen |
00428730 |
Pat1 |
PubMed: Aono 1995 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
see paper |
1 |
1 |
Johan den Dunnen |
00428731 |
Pat2 |
PubMed: Aono 1995 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
see paper |
1 |
1 |
Johan den Dunnen |
00428732 |
Pat3 |
PubMed: Aono 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
see paper |
1 |
1 |
Johan den Dunnen |
00428733 |
Pat4 |
PubMed: Aono 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
see paper |
1 |
1 |
Johan den Dunnen |
00428734 |
Pat5 |
PubMed: Aono 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
see paper |
1 |
1 |
Johan den Dunnen |
00428735 |
Pat6 |
PubMed: Aono 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
Gilbert syndrome |
see paper |
1 |
1 |
Johan den Dunnen |
00428736 |
PatA |
PubMed: Seppen 1996 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428737 |
PatB |
PubMed: Seppen 1996 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
Crigler-Najjar |
see paper |
1 |
1 |
Johan den Dunnen |
00428744 |
PatBG |
PubMed: Ciotti 1997 |
- |
- |
- |
El Salvador |
- |
- |
- |
- |
- |
Crigler-Najjar, Crigler-Najjar I |
see paper |
1 |
1 |
Johan den Dunnen |
00428745 |
PatGD |
PubMed: Ciotti 1997 |
- |
- |
- |
United States |
African-American |
- |
- |
- |
- |
Crigler-Najjar, Crigler-Najjar I |
see paper |
2 |
1 |
Johan den Dunnen |
00428746 |
PatYA |
PubMed: Ciotti 1997 |
- |
M |
- |
Turkey |
- |
- |
- |
- |
- |
Crigler-Najjar, Crigler-Najjar I |
see paper |
1 |
1 |
Johan den Dunnen |
00428747 |
PatSS |
PubMed: Ciotti 1995 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
Crigler-Najjar, Crigler-Najjar I |
see paper |
1 |
1 |
Johan den Dunnen |
00428748 |
PatCF |
PubMed: Ciotti 1998 |
- |
F |
- |
Italy |
- |
- |
- |
- |
- |
Crigler-Najjar, Crigler-Najjar I |
see paper |
2 |
1 |
Johan den Dunnen |
00428749 |
PatSM |
PubMed: Ciotti 1998 |
- |
- |
- |
Italy |
- |
- |
- |
- |
- |
Crigler-Najjar, Crigler-Najjar II |
see paper |
2 |
1 |
Johan den Dunnen |
00428750 |
PatTS |
PubMed: Ciotti 1999 |
- |
- |
- |
United States |
African-American |
- |
- |
- |
- |
Crigler-Najjar, Crigler-Najjar II |
see paper |
2 |
1 |
Johan den Dunnen |
00428751 |
controls |
PubMed: Beutler 1998 |
analysis 71 control individuals |
- |
- |
- |
Europe |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
24 |
Johan den Dunnen |
00428752 |
controls |
PubMed: Beutler 1998 |
analysis 71 control individuals |
- |
- |
- |
Europe |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
39 |
Johan den Dunnen |
00428753 |
controls |
PubMed: Beutler 1998 |
analysis 71 control individuals |
- |
- |
- |
Europe |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
8 |
Johan den Dunnen |
00428754 |
controls |
PubMed: Beutler 1998 |
analysis 47 control individuals |
- |
- |
- |
Asia |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
33 |
Johan den Dunnen |
00428755 |
controls |
PubMed: Beutler 1998 |
analysis 47 control individuals |
- |
- |
- |
Asia |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
13 |
Johan den Dunnen |
00428756 |
controls |
PubMed: Beutler 1998 |
analysis 47 control individuals |
- |
- |
- |
Asia |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Johan den Dunnen |
00428757 |
controls |
PubMed: Beutler 1998 |
analysis 101 control individuals |
- |
- |
- |
Africa |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
26 |
Johan den Dunnen |
00428758 |
controls |
PubMed: Beutler 1998 |
analysis 101 control individuals |
- |
- |
- |
Africa |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
37 |
Johan den Dunnen |
00428759 |
controls |
PubMed: Beutler 1998 |
analysis 101 control individuals |
- |
- |
- |
Africa |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
19 |
Johan den Dunnen |
00428760 |
controls |
PubMed: Beutler 1998 |
analysis 101 control individuals |
- |
- |
- |
Africa |
- |
- |
- |
- |
Healthy/Control |
- |
2 |
6 |
Johan den Dunnen |
00428761 |
controls |
PubMed: Beutler 1998 |
analysis 101 control individuals |
- |
- |
- |
Africa |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
2 |
Johan den Dunnen |
00428762 |
controls |
PubMed: Beutler 1998 |
analysis 101 control individuals |
- |
- |
- |
Africa |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
4 |
Johan den Dunnen |
00428763 |
controls |
PubMed: Beutler 1998 |
analysis 101 control individuals |
- |
- |
- |
Africa |
- |
- |
- |
- |
Healthy/Control |
- |
3 |
5 |
Johan den Dunnen |