All individuals with variants in gene OAT

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.

160 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	Variants	Panel size	Owner
00050476	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected sibling(s)	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth	1	2	Johan den Dunnen
00059780	-	-	-	-	-	-	Turkey	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00059781	-	-	-	-	-	Italy	Southern Italy	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00059782	-	-	-	-	-	Italy	Southern Italy	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00059783	-	-	1 familie, 2 patients	-	-	Italy	Southern Italy	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00059784	-	-	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00059785	-	-	-	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00059786	-	-	-	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00059798	-	PubMed: Mitchell 1989	14 Finnish families	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	1	14	Anne Polvi
00059799	-	PubMed: Mitchell 1989	Families: Fin 6 and Fin 14	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059800	-	PubMed: Mitchell 1989	-	-	-	United States	American	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059801	-	PubMed: Ohkubo 2005	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059802	Pat5	PubMed: Mashima 1992	-	-	-	Japan	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059803	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Iraq;Jewish	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059804	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Lebanese Maronite	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059805	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059806	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Finnish/American	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059807	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	West African	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059808	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	India	East Indian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059809	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	German/American	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059810	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	English/German	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059811	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	France	French	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059812	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Portugal	Portugese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059813	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059814	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Turkey	Turkish (Shephardic)	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059815	-	PubMed: Ramesh 1988	-	-	-	United States	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059816	-	PubMed: Ramesh 1988	-	-	-	United States	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059817	-	PubMed: Kobayashi et al.1995	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059818	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059819	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059820	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059821	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059822	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059823	-	PubMed: Park 1992	-	-	-	Mexico	Mexican	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059824	-	PubMed: Mitchell 1991	-	-	-	Algeria	Algerian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059825	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059826	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059827	-	PubMed: Doimo 2012	-	-	-	Turkey	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059828	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059829	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059830	-	PubMed: Doimo 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059831	-	PubMed: Michaud 1995	-	-	-	Italy	Italian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059832	-	PubMed: Dietz 1993	-	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059833	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00059834	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060097	-	-	-	-	-	Greece	Greece	-	-	-	-	GACR;OATD	-	2	1	Eva Trevisson
00060098	-	-	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	GACR;OATD	-	3	1	Eva Trevisson
00060099	-	-	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	GACR;OATD	-	1	1	Eva Trevisson
00060100	-	-	-	-	-	-	white	-	-	-	-	GACR;OATD	-	2	1	Eva Trevisson
00060118	-	PubMed: Park 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060121	Pat3	PubMed: Mashima 1992	-	-	-	England;Germany	-	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060122	Pat4	PubMed: Mashima 1992	-	-	-	Ireland;Italy;Netherlands	European	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060123	-	PubMed: Michaud 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060124	-	PubMed: Michaud 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060125	patient;Pat2	PubMed: Akaki 1992, PubMed: Mashima 1992	2-generation family, 1 affected	-	-	England;France;Germany;Netherlands	Europe	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060126	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060127	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060128	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060129	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Spain	Spanish	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060130	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060131	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Finland	Finnish	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060132	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	German/Italian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060133	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Welsh	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060134	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	Portugal	Portugese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060135	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	German/Italian	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060136	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060137	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Jewish-Ashkenazi	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060138	-	PubMed: Brody 1992	1 familie, 1 patient	-	-	-	Hispanic (Nicaraguan)	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060139	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060140	-	PubMed: Mashima 1996	-	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060141	-	PubMed: Park 1992	-	-	-	-	-	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060142	-	PubMed: Mashima 1992	2-generation family, 2 affected sisters	F	-	United States	-	-	-	-	-	GACR;OATD	-	2	2	Anne Polvi
00060143	-	PubMed: McClatchey 1990	-	-	-	-	Danish/Swedish	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060144	-	PubMed: Renner et al.2012	-	-	-	Germany	German	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060145	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060146	-	PubMed: Doimo 2012	-	-	-	Italy	Southern Italian	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060147	-	PubMed: Doimo 2012	-	-	-	Greece	-	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060148	-	PubMed: Doimo 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	3	1	Anne Polvi
00060149	-	PubMed: Michaud 1995	-	-	-	Australia	Australian	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060150	-	PubMed: Dietz 1993	-	-	-	-	-	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060151	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00060152	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060153	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060154	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060155	-	PubMed: Sergouniotis 2012	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	GACR;OATD	-	2	1	Anne Polvi
00060156	-	PubMed: Inana 1989	1 familie, 1 patient	-	-	Japan	Japanese	-	-	-	-	GACR;OATD	-	1	1	Anne Polvi
00144157	-	PubMed: Katagiri 2014	index patient	M	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00289999	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290000	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	91	Mohammed Faruq
00304232	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00309268	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309269	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309270	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00328499	15017100	PubMed: Taylor 2017	no family history retinal disease	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	chorioretinal dystrophy (HP:0001135)	1	1	LOVD
00334277	944	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IIIA2	2	1	LOVD
00335226	Fi15/10	PubMed: Riera 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388562	OFTALMO.022	PubMed: Dineiro 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	Non‐syndrom	1	1	LOVD
00389317	601	PubMed: Weisschuh 2020	Filing key number: 217, unclassified / mixed, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00392259	4	PubMed: Bell 2021	-	F	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	Posterior subcapsular cataract, retinal dystrophy, exotropia	2	1	LOVD
00393474	-	PubMed: Liu-2020	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD

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Global Variome shared LOVD

OAT (ornithine aminotransferase)