All individuals with variants in gene NR2E3

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.

424 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00032723	-	PubMed: Haider 2000	-	-	-	-	Syrian/Lebanese	-	-	-	-	ESCS	-	1	4	Pascal Escher
00032724	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	1	2	Pascal Escher
00032725	-	PubMed: Wright 2004	2 families, 2 cases	-	-	Germany	-	-	-	-	-	ESCS	-	1	2	Pascal Escher
00032726	-	PubMed: Wright 2004	-	-	-	Cuba	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032727	-	PubMed: Khan 2007	-	-	-	Saudi Arabia	Saudi Arabian	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032728	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032729	-	PubMed: Bandah 2009	4 families, 8 cases	-	-	Palestine	Palestinian	-	-	-	-	ESCS	-	1	8	Pascal Escher
00032730	-	PubMed: Bonilha 2009	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	1	1	Pascal Escher
00032731	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	CORD	-	1	1	Pascal Escher
00032732	-	PubMed: Bernal 2008	-	-	-	Spain	Spanish	-	-	-	-	CORD	-	1	2	Pascal Escher
00032733	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032734	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032735	-	PubMed: Haider 2000	2 families, 2 cases	-	-	-	-	-	-	-	-	ESCS	-	1	2	Pascal Escher
00032736	-	PubMed: Haider 2000	-	-	-	-	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032737	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032738	-	PubMed: Haider 2000	-	-	-	United Kingdom (Great Britain)	British	-	-	-	-	ESCS	-	1	3	Pascal Escher
00032739	-	PubMed: Vaclavik 2008	-	-	-	-	-	-	-	-	-	ESCS	-	1	3	Pascal Escher
00032740	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	1	2	Pascal Escher
00032741	-	Galantuomo 2008	-	-	-	Italy	Italian	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032742	-	PubMed: Wright 2004	5 families, 6 cases	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	1	6	Pascal Escher
00032743	-	PubMed: Nakamura 2002	-	-	-	Japan	Japanese	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032744	-	PubMed: Khan 2007	-	-	-	Saudi Arabia	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032745	-	PubMed: Bernal 2008	-	-	-	Spain	Spanish	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032746	-	PubMed: Iannaccone et al.2009	-	-	-	Italy	Italy;Jewish	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032747	-	PubMed: Chavala 2005	-	-	-	-	Arab Emirates	-	-	-	-	ESCS	Goldmann-Favre syndrome	1	2	Pascal Escher
00032748	-	PubMed: Bernal 2008	-	-	-	Spain	Spanish	-	-	-	-	ESCS	Goldmann-Favre syndrome	1	1	Pascal Escher
00032749	-	PubMed: Pachydaki 2009	2 families, 3 cases	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	1	3	Pascal Escher
00032750	-	PubMed: Sharon 2003	2 families, 2 cases	-	-	-	-	-	-	-	-	CORD	-	1	2	Pascal Escher
00032751	-	PubMed: Gerber 2000	-	-	-	-	Iberi;Jewish-Crypto	-	-	-	-	RPad	-	1	27	Pascal Escher
00032752	-	PubMed: Bandah 2009	-	-	-	Morocco	Jewish	-	-	-	-	RPad	-	1	1	Pascal Escher
00032753	-	PubMed: Bandah 2009	-	-	-	Palestine	Palestinian	-	-	-	-	RPad	-	1	5	Pascal Escher
00032754	-	PubMed: Bernal 2008	-	-	-	Spain	Spanish	-	-	-	-	RPad	-	1	3	Pascal Escher
00032755	-	PubMed: Nakamura 2004	-	-	-	Japan	Japanese	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032756	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032757	-	PubMed: Haider 2000	-	-	-	-	Spanish-Italian	-	-	-	-	ESCS	-	1	2	Pascal Escher
00032758	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032759	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	2	1	Pascal Escher
00032760	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	2	2	Pascal Escher
00032761	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032762	-	PubMed: Wright 2004	-	-	-	United Kingdom (Great Britain)	British/American	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032763	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032764	-	PubMed: Wright 2004	-	-	-	United Kingdom (Great Britain)	British/Amerindian	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032765	-	PubMed: Sharon 2003	2 families, 3 cases	-	-	-	-	-	-	-	-	CORD	-	2	3	Pascal Escher
00032766	-	PubMed: Lam 2007	-	-	-	-	-	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032767	-	PubMed: Wright 2004	-	-	-	-	British/Italian	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032768	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	CORD	-	2	1	Pascal Escher
00032769	-	PubMed: Wright 2004	-	-	-	-	Europe, west	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032770	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032771	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032772	-	PubMed: Sharon 2003	2 families, 2 cases	-	-	-	-	-	-	-	-	CORD	-	2	2	Pascal Escher
00032773	-	PubMed: Wright 2004	-	-	-	United Kingdom (Great Britain)	British	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032774	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032775	-	PubMed: Coppieters 2007	3 families, 45 cases	-	-	-	Belgian/French	-	-	-	-	RPad	-	1	45	Pascal Escher
00032776	-	PubMed: Gire 2007	3 families, 22 cases	-	-	-	white	-	-	-	-	RPad	-	1	22	Pascal Escher
00032777	-	PubMed: Escher 2009	-	-	-	Switzerland	Swiss	-	-	-	-	RPad	-	1	11	Pascal Escher
00032778	-	PubMed: Escher 2009	-	-	-	United States	Jewish-American	-	-	-	-	RPad	-	1	3	Pascal Escher
00032779	-	PubMed: Escher 2009	-	-	-	United States	Jewish-American	-	-	-	-	ESCS	-	2	2	Pascal Escher
00032780	-	PubMed: Bandah 2009	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032781	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032782	-	PubMed: Pachydaki 2009	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	2	1	Pascal Escher
00032783	-	PubMed: Hayashi 2005	-	-	-	Japan	Japanese	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032784	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032785	-	PubMed: Wright 2004	-	-	-	-	British/German	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032786	-	PubMed: Bandah 2009	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032787	-	PubMed: Wright 2004	-	-	-	Italy	Italian	-	-	-	-	ESCS	-	2	1	Pascal Escher
00032788	-	PubMed: Pachydaki 2009	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	2	1	Pascal Escher
00032789	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	1	1	Pascal Escher
00032790	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032791	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Pascal Escher
00032792	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032793	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032794	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032795	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032796	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032797	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032798	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032799	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032800	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032801	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032802	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032803	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032804	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032805	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032806	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032807	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032808	-	PubMed: Schorderet and Escher 2009	-	-	-	Switzerland	Swiss	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032809	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032810	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032811	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032812	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032813	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032814	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032815	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032816	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032832	-	-	-	-	-	-	Chinese	-	-	-	-	Healthy/Control	-	1	9	Pascal Escher
00032833	-	-	-	-	-	-	Chinese	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher
00032834	-	PubMed: Collin 2011	-	-	-	Netherlands	-	-	-	-	-	RPad	-	1	1	Pascal Escher
00032835	-	PubMed: Khan 2010	3 families, 1 case	-	-	Saudi Arabia	Saudi Arabian	-	-	-	-	ESCS	helicoid subretinal fibrosis	1	3	Pascal Escher
00032836	-	PubMed: Yang 2010	2 families, 2 cases	-	-	-	Chinese	-	-	-	-	RPad	-	1	2	Pascal Escher
00032837	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Pascal Escher

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Global Variome shared LOVD

NR2E3 (nuclear receptor subfamily 2, group E, member 3)