Global Variome shared LOVD
SLC25A13 (solute carrier family 25 (aspartate/glut...))
LOVD v.3.0 Build 30b [
Current LOVD status
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View all variants in gene SLC25A13
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View all individuals with variants in gene SLC25A13
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View all diseases associated with gene SLC25A13
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All individuals with variants in gene SLC25A13
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.
178 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
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1
2
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Last »
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00112519
-
PubMed: Mitchell 2009
-
-
-
United States
-
-
-
-
-
?
-
1
8
Johan den Dunnen
00112520
-
PubMed: Mitchell 2009
-
-
-
United States
-
-
-
-
-
?
-
1
57
Johan den Dunnen
00112521
-
PubMed: Mitchell 2009
-
-
-
United States
-
-
-
-
-
?
-
1
5
Johan den Dunnen
00112522
-
PubMed: Kobayashi 1999
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00112523
-
PubMed: Tazawa 2001
-
-
-
-
-
-
-
-
-
NICCD
-
2
1
Johan den Dunnen
00112524
-
PubMed: Kobayashi 1999
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00112525
-
PubMed: Kobayashi 1999
,
OMIM:var0001
-
-
-
-
-
-
-
-
-
CTLN2
-
2
9
Johan den Dunnen
00112526
-
PubMed: Kobayashi 1999
,
OMIM:var0001
-
-
-
-
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00112527
-
PubMed: Ohura 2001
,
OMIM:var0001
-
-
-
Japan
-
-
-
-
-
NICCD
favorable clinical course, all biochemical abnormalities normalized at 12m
2
1
Johan den Dunnen
00112528
-
PubMed: Tamamori 2002
,
OMIM:var0001
-
-
-
Japan
-
-
-
-
-
NICCD
progressive, liver transplant at 10m
2
1
Johan den Dunnen
00112529
-
-
-
F
-
China
-
-
-
-
-
CTLN2
-
2
1
Chao Liu
00112530
-
PubMed: Mitchell 2009
-
-
-
United States
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00112531
11153906-Pat
PubMed: Yasuda 2000
2 patients
M
-
Japan
-
-
-
-
-
CTLN2
-
2
2
Johan den Dunnen
00112532
-
PubMed: Kobayashi 1999
,
OMIM:var0002
-
-
-
-
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00112533
-
PubMed: Tamamori 2002
,
OMIM:var0002
-
-
-
Japan
-
-
-
-
-
NICCD
-
2
1
Johan den Dunnen
00112534
-
PubMed: Tomamosa 2001
,
OMIM:var0002
-
-
-
Japan
-
-
-
-
-
NICCD
-
2
2
Johan den Dunnen
00112535
-
PubMed: Mitchell 2009
-
-
-
United States
-
-
-
-
-
?
-
1
40
Johan den Dunnen
00112536
-
PubMed: Kobayashi 1999
,
OMIM:var0003
-
-
-
-
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00112537
-
PubMed: Mitchell 2009
-
-
-
United States
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00112538
-
PubMed: Fiermonte 2008
,
OMIM:var0007
-
-
no
Pakistan
-
-
-
-
-
CTLN2
episodic confusion, elevated plasma ammonia/arginine levels; fatal hyperammonemic encephalopathy
2
1
Johan den Dunnen
00112539
-
PubMed: Fiermonte 2008
,
OMIM:var0007
-
-
no
Pakistan
-
-
-
-
-
?
asymptomatic
2
2
Johan den Dunnen
00132621
patient
PubMed: Takahashi 2006
-
M
-
Japan
-
-
-
-
-
CTLN2
see paper
2
1
Johan den Dunnen
00132622
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Canada
French-Canadian
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132623
Pat758
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
NICCD
-
2
1
Johan den Dunnen
00132625
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
China
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132626
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
11
Johan den Dunnen
00132627
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
11
Johan den Dunnen
00132628
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Korea
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132629
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Taiwan
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132630
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Canada
French-Canadian
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132631
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132632
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
49
Johan den Dunnen
00132633
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
34
Johan den Dunnen
00132634
Pat919
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00132635
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
3
Johan den Dunnen
00132636
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132637
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Korea
-
-
-
-
-
CTLN2
-
1
2
Johan den Dunnen
00132638
?
PubMed: Woo 2014
,
Journal: Woo 2014
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132639
Pat702
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00132640
PatP474
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00132642
Pat557
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
F
no
Japan
-
-
-
-
partial liver transplantation from mother
CTLN2
diagnosed as CTLN2 by clinical and biochemical studies
3
1
Johan den Dunnen
00132643
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
2
Johan den Dunnen
00132645
con
PubMed: Tabata 2008
,
Journal: Tabata 2008
unaffected heterozygous carrier
-
-
Japan
-
-
-
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00132646
Pat857
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00132647
Pat709
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Israel
Jewish-Ashkenazi
-
-
-
-
NICCD
-
2
1
Johan den Dunnen
00132648
Pat730
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
NICCD
-
2
1
Johan den Dunnen
00132649
Pat1037
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Czech Republic
-
-
-
-
-
NICCD
-
2
1
Johan den Dunnen
00132650
Pat549
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
no
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00132651
Pat456
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00132652
Pat1221
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
United Kingdom (Great Britain)
Pakistan
-
-
-
-
NICCD
-
1
1
Johan den Dunnen
00132740
16737877-Pat1
PubMed: Yeh 2006
-
-
-
Taiwan
-
-
-
-
-
NICCD
increased Citr, Met, Orn
2
1
Johan den Dunnen
00132741
16737877-Pat2
PubMed: Yeh 2006
-
-
-
Taiwan
-
-
-
-
-
NICCD
increased level Met, Tyr, Pro
1
1
Johan den Dunnen
00132742
16737877-Pat3
PubMed: Yeh 2006
-
-
-
Taiwan
-
-
-
-
-
NICCD
normal amino acid levels
1
1
Johan den Dunnen
00132743
16737877-Pat11
PubMed: Yeh 2006
-
-
-
Taiwan
-
-
-
-
-
NICCD
increased level Citr, Met, Thr, Tyr, Phe, Lys, Arg
1
1
Johan den Dunnen
00132744
16737877-Pat4
PubMed: Yeh 2006
-
-
-
Taiwan
-
-
-
-
-
NICCD
increased level Met, Tyr
1
1
Johan den Dunnen
00132745
16737877-Pat5
PubMed: Yeh 2006
-
-
-
Taiwan
-
-
-
-
-
NICCD
increased level Citr
1
1
Johan den Dunnen
00132746
17982687-Pat1
PubMed: Ko 2007
-
M
-
Korea
-
-
-
-
-
NICCD
hyperammonemia, hypercitrullinemia, galactosemia
2
1
Johan den Dunnen
00132747
17982687-Pat2
PubMed: Ko 2007
-
F
-
Korea
-
-
-
-
-
NICCD
Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia
2
1
Johan den Dunnen
00132748
17982687-Pat3
PubMed: Ko 2007
-
M
-
Korea
-
-
-
-
-
NICCD
Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia
2
1
Johan den Dunnen
00132749
17982687-Pat4
PubMed: Ko 2007
-
F
-
Korea
-
-
-
-
-
NICCD
Hyperammonemia, hypercitrullinemia
2
1
Johan den Dunnen
00132750
17982687-Pat5
PubMed: Ko 2007
-
M
-
Korea
-
-
-
-
-
CTLN2
hyperammonemia, hypercitrullinemia
2
1
Johan den Dunnen
00132751
17982687-Pat6
PubMed: Ko 2007
-
M
-
Korea
-
-
-
-
-
CTLN2
hyperammonemia, hypercitrullinemia
2
1
Johan den Dunnen
00132753
Pat
Journal: Hutchin 2006 P-4-23
-
M
no
United Kingdom (Great Britain)
-
-
-
-
-
NICCD
see paper; ...
2
1
Johan den Dunnen
00132754
Pat
Journal: Sheng 2006 P-18-24
-
M
-
Taiwan
-
-
-
-
-
NICCD
see paper; ...
2
1
Johan den Dunnen
00132755
Pat1
Journal: Luder 2006 O-17-2
-
M
-
Israel
moslem
-
-
-
-
NICCD
severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 4y-healthy with no treatment
1
1
Johan den Dunnen
00132756
Pat2
Journal: Luder 2006 O-17-2
-
-
no
Israel
mixed Moslem/Circassian
-
-
-
-
NICCD
severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 2y-healthy with no treatment
1
1
Johan den Dunnen
00132757
16311094-Pat
PubMed: Takaya 2005
-
M
-
Japan
-
-
-
-
-
NICCD
see paper; ...
2
1
Johan den Dunnen
00132758
16311094-Pat2
PubMed: Takaya 2005
-
F
-
Japan
-
-
-
-
-
NICCD
see paper; ...
1
1
Johan den Dunnen
00132759
12409267-Pat
PubMed: Ben-Shalom 2002
-
M
yes
Israel
Moslem
-
-
-
-
NICCD
see paper; ..., prolonged icterus, hepatocellular dysfunction, increased citrulline and dibasic amino acids in plasma and urine
1
1
Johan den Dunnen
00132760
16059747-Pat1
PubMed: Lu 2005
-
-
-
Japan
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132761
16059747-Pat
PubMed: Lu 2005
-
-
no
Japan
-
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00132762
15542392-Pat8
PubMed: Tazawa 2004
-
F
no
Japan
-
-
-
-
-
NICCD
see paper; ...
2
1
Johan den Dunnen
00132763
11793471-Pat2
PubMed: Yamaguchi 2002
-
-
-
Japan
-
-
-
-
-
NICCD
-
2
1
Johan den Dunnen
00132764
11153906-Pat
PubMed: Yasuda 2000
-
F
-
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00132766
11153906-Pat
PubMed: Yasuda 2000
-
M
-
Japan
-
-
-
-
-
CTLN2
-
2
1
Johan den Dunnen
00294520
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
2
Mohammed Faruq
00307650
NCU14
PubMed: Togawa 2016
-
M
-
Japan
-
-
-
-
-
?
see paper; ...
2
1
Johan den Dunnen
00307651
NCU15
PubMed: Togawa 2016
-
M
-
Japan
-
-
-
-
-
?
see paper; ...
2
1
Johan den Dunnen
00307652
NCU16
PubMed: Togawa 2016
-
M
-
Japan
-
-
-
-
-
?
see paper; ...
2
1
Johan den Dunnen
00307653
NCU17
PubMed: Togawa 2016
-
F
-
Japan
-
-
-
-
-
?
see paper; ...
2
1
Johan den Dunnen
00307661
NCU28
PubMed: Togawa 2016
-
F
-
Japan
-
-
-
-
-
?
see paper; ...
2
1
Johan den Dunnen
00308715
-
PubMed: Le 2019
analysis 305 unrelated individuals
-
-
Viet Nam
-
-
-
-
-
Healthy/Control
-
1
1
Global Variome, with Curator vacancy
00431010
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
1
247
Johan den Dunnen
00431011
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
1
2
Johan den Dunnen
00431012
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
4
Johan den Dunnen
00431013
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
8
Johan den Dunnen
00431014
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
17
Johan den Dunnen
00431015
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
4
Johan den Dunnen
00431016
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
1
Johan den Dunnen
00431017
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
3
Johan den Dunnen
00431018
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
3
Johan den Dunnen
00431019
-
PubMed: Nguyen 2023
analysis 292 unrelated CD patients
-
no
Viet Nam
-
-
-
-
-
?
-
2
1
Johan den Dunnen
00431020
WBCT170102
PubMed: Nguyen 2023
analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
F
no
Viet Nam
-
-
-
-
-
?
see paper
3
1
Johan den Dunnen
00431021
WBCT210304
PubMed: Nguyen 2023
analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
M
no
Viet Nam
-
-
-
-
-
?
see paper
2
1
Johan den Dunnen
00431024
patient
PubMed: Ben-Shalom 2002
-
M
yes
Israel
Moslem
-
-
-
-
?
see paper
1
1
Johan den Dunnen
00431025
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
China
Asia-E
-
-
-
-
CTLN2
-
1
2
Johan den Dunnen
00431026
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
China
Asia-E
-
-
-
-
NICCD
-
1
15
Johan den Dunnen
00431027
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
China
Asia-E
-
-
-
-
CTLN2
-
1
1
Johan den Dunnen
00431028
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
China
Asia-E
-
-
-
-
NICCD
-
1
23
Johan den Dunnen
00431029
patients
PubMed: Tabata 2008
,
Journal: Tabata 2008
-
-
-
Japan
Asia-E
-
-
-
-
CTLN2
-
1
44
Johan den Dunnen
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