All individuals with variants in gene CDHR1

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.

263 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00001824	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00057782	-	-	-	F	yes	India	Indian	-	-	yes	-	RD	-	1	1	Srilekha Sundar
00087952	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	COD	-	1	1	Leen Abu Safieh
00100108	61220	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	RD	-	1	1	James Hejtmancik
00155403	-	Sharon, submitted	-	M	yes	Israel	Druze	-	-	-	-	retinal disease	-	1	2	Dror Sharon
00155404	MOL0056	PubMed: Sharon 2015, PubMed: Sharon 2019	family	F	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	3	Dror Sharon
00155405	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	2	Dror Sharon
00240425	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240426	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00290154	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00290155	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	72	Mohammed Faruq
00295117	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	82	Mohammed Faruq
00299641	FamGC3626Pat2	PubMed: Arno 2017	2-generation family, 1 affeted	M	-	-	-	-	-	-	-	retinal disease	see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90	1	1	Johan den Dunnen
00305324	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00308376	CIC04239	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308420	CIC07507	PubMed: Boulanger-Scemama 2015	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309021	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309022	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309023	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309024	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309025	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309026	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309680	MOL0056	PubMed: Lazar 2015	2-generation family, 3 affected (2F, M)	F;M	yes	Israel	Arab Muslim	-	-	-	-	retinal disease	see paper; ...	1	3	Global Variome, with Curator vacancy
00325430	1977	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	2	1	Johan den Dunnen
00328004	G001041	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328009	G001046	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328021	G001282	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328103	G005206	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328251	G008998	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328267	G009848	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00331291	Pat45	PubMed: Maeda 2018	patient, no family history	F	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00331957	Pat95	PubMed: Birtel 2018	patient	M	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline	2	1	LOVD
00331958	Pat96	PubMed: Birtel 2018	patient	M	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG not analyzable; photopic ERG not analyzable	1	1	LOVD
00331959	Pat97	PubMed: Birtel 2018	family	M	-	Germany	-	-	-	-	-	retinal disease	metamorphopsia; scotopic ERG normalreduced; photopic ERG borderline	1	1	LOVD
00331960	Pat98	PubMed: Birtel 2018	patient	M	-	Germany	-	-	-	-	-	retinal disease	metamorphopsia; scotopic ERG normal; photopic ERG borderline	1	1	LOVD
00331961	Pat99	PubMed: Birtel 2018	family	M	-	Germany	-	-	-	-	-	retinal disease	metamorphopsia; scotopic ERG normalreduced; photopic ERG borderline	1	1	LOVD
00331962	Pat100	PubMed: Birtel 2018	patient	M	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline	1	1	LOVD
00333354	Pat12	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333366	Pat11	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333811	7	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333893	260	PubMed: Stone 2017	family, 2 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiii	2	2	LOVD
00333894	261	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiii	1	1	LOVD
00333921	344	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1b	2	1	LOVD
00334892	61289	PubMed: Li 2017	-	-	-	Pakistan	-	-	-	-	-	retinal disease	progressive	1	1	LOVD
00335238	Fi15/19PatIII1/2	PubMed: Riera 2017	4-generation family, 3 affected (F, 2M)	F;M	-	Spain	-	-	-	-	-	retinal disease	-	2	3	LOVD
00335255	Fi15/19PatIII4	PubMed: Riera 2017	-	M	-	Spain	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00335410	RP096	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335963	-	PubMed: Sergouniotis 2016	analysis 486 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00358934	Case26007	PubMed: Tiwari 2016	-	-	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358939	Fam03	PubMed: Sundaramurthy 2016	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	India	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00358951	Case71927	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358974	Case71749	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358977	Case25939	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359151	13002976	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00362165	K6140	PubMed: Oishi 2016	2-generation family, 1 affected	F	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362225	Pat7	PubMed: Fadaie 2021	-	-	-	Ireland	-	-	-	-	-	retinal disease	-	1	1	Zeinab Fadaie
00362929	RCD69	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00363572	08DG-00234	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363577	09DG00052	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363608	09DG01650	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363855	MOL0835	PubMed: Sharon 2015, PubMed: Beryozkin 2015	family	-	-	Israel	Aarab, Muslim	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00363887	MOL1275	PubMed: Beryozkin 2015	family	-	-	Israel	Druze	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00374958	W152-1	PubMed: Huang 2015	-	M	yes	China	-	-	-	-	-	retinal disease	best corrected visual acuity 0.12/0.1	1	1	LOVD
00375435	RP#030	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376754	14	PubMed: Wang 2014	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376773	37	PubMed: Wang 2014	-	F	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376783	49	PubMed: Wang 2014	-	F	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377712	-	PubMed: Ostergaard 2010	-	M	yes	Faroe Islands	faroese	-	-	-	-	retinal disease	large inter-ocular differences in visual acuity were observed due to a large scar in the left macula, which was likely caused by a foetal toxoplasmosis infection.	1	1	LOVD
00377713	-	PubMed: Ostergaard 2010	-	F	yes	Faroe Islands	faroese	-	-	-	-	retinal disease	-	1	1	LOVD
00377714	-	PubMed: Ostergaard 2010	-	M	yes	Faroe Islands	faroese	-	-	-	-	retinal disease	The inter-ocular difference in visual acuity, was explained by a left-sided squint in childhood.	1	1	LOVD
00377715	-	PubMed: Ostergaard 2010	-	F	yes	Faroe Islands	faroese	-	-	-	-	retinal disease	oculocutaneous albinism, which caused nystagmus and reduced visual acuity from early infancy.	1	1	LOVD
00377716	-	PubMed: Ostergaard 2010	-	M	yes	Faroe Islands	faroese	-	-	-	-	retinal disease	denied visual difficulty in daylight when examined at the age of 15.	1	1	LOVD
00377717	-	PubMed: Ostergaard 2010	-	F	yes	Faroe Islands	faroese	-	-	-	-	retinal disease	oculocutaneous albinism, which caused nystagmus and reduced visual acuity from early infancy.	1	1	LOVD
00379817	2016101005	PubMed: Wang 2018	-	M	?	China	Han Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00380126	09DG01682	PubMed: Patel 2018	-	-	yes	Palestine	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380814	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	PGBM1	Cone-rod dystrophy; visual impairment (Ophthalmological)	1	1	LOVD
00381649	-	PubMed: Eisenberger-2013	-	F	?	Saudi Arabia	-	-	-	-	-	retinal disease	-	2	1	LOVD
00381688	-	PubMed: Eisenberger-2013	-	M	no	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381731	-	PubMed: Wang-2014	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381880	30	PubMed: Birtel 2018	-	M	-	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381954	23	PubMed: Weisschuh 2018	-	F	-	Germany	-	-	-	-	-	retinal disease	BCVA OD-OS:hand movement; strabismus ; renal insufficiency,hyper-parathyroidism,obesity	2	1	LOVD
00382246	75	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382511	373	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382512	374	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383797	RD18184095_B	PubMed: Gao 2019	-	?	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383987	RP-1393	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00385002	19182	PubMed: Xu 2020	-	?	yes	China	-	-	-	-	-	retinal disease	no nyctalopia/photophobia, no nystagmus, no oculodigital sign, best corrected visual acuity right/left eye: 0.2/0.3	1	1	LOVD
00386164	RPN-253	PubMed: Rodriguez-Munoz 2020	family fRPN-108, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386176	RPN-289	PubMed: Rodriguez-Munoz 2020	family fRPN-132, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386204	RPN-324	PubMed: Rodriguez-Munoz 2020	family fRPN-159, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386217	RPN-339	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386227	RPN-406	PubMed: Rodriguez-Munoz 2020	family fRPN-185, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386249	RPN-495	PubMed: Rodriguez-Munoz 2020	family fRPN-217, proband	F	-	Venezuela	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386250	RPN-496	PubMed: Rodriguez-Munoz 2020	family fRPN-217, family member	F	-	Venezuela	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386251	RPN-498	PubMed: Rodriguez-Munoz 2020	family fRPN-217, family member	F	-	Venezuela	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386577	003-065	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386689	OGI1048_002075	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386868	003-070	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387062	88	PubMed: Jauregui 2020	-	F	-	(United States)	Other	-	-	-	-	retinal disease	-	1	1	LOVD
00387628	13	PubMed: Zanolli 2020	individual ID not present in paper, consecutive numbers given	?	-	Chile	-	-	-	-	-	retinal disease	-	2	1	LOVD

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Global Variome shared LOVD

CDHR1 (cadherin-related family member 1)