Global Variome shared LOVD
MERTK (c-mer proto-oncogene tyrosine kinase)
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curators:
Isabelle Audo
and
Christina Zeitz
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All individuals with variants in gene MERTK
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.
310 entries on 4 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00001795
-
PubMed: Wang 2014a
-
-
-
(United States)
-
-
-
-
-
RP
-
1
1
Feng Wang
00001796
-
PubMed: Wang 2014a
-
-
-
(United States)
-
-
-
-
-
RP
-
1
1
Feng Wang
00088063
-
-
2 families, with three affecteds (two sibs and a cousin), unaffected heterozygous carriers parents and one unaffected heterozygous carrier
F
yes
India
South Indian
-
-
-
-
retinal disease
-
1
3
Soumittra Nagasamy
00100097
61173
PubMed: Li 2017
-
M
yes
Pakistan
Pakistani
-
-
-
-
retinal disease
-
1
1
James Hejtmancik
00105035
-
PubMed: de Castro-Miró 2014
-
F
?
Spain
-
-
-
-
-
retinal disease
-
1
1
Marta de Castro-Miró
00144249
-
PubMed: Eisenberger 2014
-
M
no
Austria
-
-
-
-
-
retinal disease
-
1
1
Rob W.J. Collin
00155496
-
Sharon, submitted
-
M
yes
Israel
Arab-Muslim
-
-
-
-
retinal disease
-
1
2
Dror Sharon
00173823
12015109
PubMed: Ellingford 2016
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Johan den Dunnen
00173824
CIC03112
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
-
-
-
-
-
-
CORD
-
1
1
Johan den Dunnen
00173825
?
PubMed: Mackay 2010
-
-
-
-
Middle East
-
-
-
-
RD
-
1
1
Johan den Dunnen
00173826
10DG1152
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Johan den Dunnen
00173827
11DG1924
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Johan den Dunnen
00173828
12DG0434
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Johan den Dunnen
00173829
12DG1797
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Johan den Dunnen
00173830
13DG0011
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
CORD
-
1
1
Johan den Dunnen
00173831
21
PubMed: Wang 2014b
-
F
-
United States
-
-
-
-
-
retinal disease
-
2
1
Johan den Dunnen
00173832
?
PubMed: Ostergaard 2011
-
-
-
Faroe Islands
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173833
?
PubMed: Jinda 2016
-
-
-
Thailand
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173834
?
PubMed: Tada 2006
-
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173835
?
PubMed: Tschernutter 2006
-
-
-
Pakistan
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173836
?
PubMed: Audo 2018
-
-
-
France
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173837
?
PubMed: Mackay 2010
-
M
no
-
white
-
-
-
-
RD
-
2
1
Isabelle Audo
00173838
20
PubMed: Wang 2014b
-
M
-
United States
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173840
K6484
PubMed: Oishi 2014
-
-
-
Japan
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173841
?
PubMed: Yang 2018
-
-
-
China
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173842
12DG0949
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173843
?
PubMed: Tada 2006
-
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173845
?
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
CORD
-
1
1
Isabelle Audo
00173846
?
PubMed: Mandal 2005
4-generation family, 2 affected brothers, unaffected heterozygous carrier parents
M
yes
United States
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173847
?
Khan 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
?
-
2
2
Isabelle Audo
00173848
?
PubMed: Li 2011
-
-
-
China
-
-
-
-
-
LCA
-
1
1
Isabelle Audo
00173849
?
PubMed: Audo 2018
-
-
-
France
-
-
-
-
-
CORD
-
2
1
Isabelle Audo
00173850
?
PubMed: Shahzadi 2010
-
-
-
Pakistan
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173851
Fam-arRP1
PubMed: Srilekha 2015
-
-
-
India
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173852
?
PubMed: Audo 2018
-
-
-
Russia
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173853
?
{PMID:Xu 2014) who considered it as less likely pathogenic with additional more pathogenic variant as a disease cause
-
-
-
China
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173854
?
PubMed: Evans 2017
-
-
-
Canada
Newfoundland
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173855
13000107
PubMed: Ellingford 2016
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173856
?
PubMed: Audo 2018
-
-
-
Italy
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173857
?
PubMed: Audo 2018
-
-
-
Madagascar
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173858
?
PubMed: Lukovic 2015
-
-
-
Spain
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173859
?
PubMed: Mackay 2010
-
-
-
-
Middle East
-
-
-
-
RD
-
1
1
Isabelle Audo
00173860
?
PubMed: Collin 2011
-
-
-
Netherlands
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173861
RP300
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173863
?
Mendez-Vidal 2014
-
-
-
Spain
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173864
?
PubMed: Audo 2018
-
-
-
-
North Africa
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173865
?
PubMed: Aldahmesh 2009
2-generation family, 2 affected brothers, unaffected parents
-
yes
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173866
RP207
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
retinal disease
-
1
2
Isabelle Audo
00173867
?
PubMed: Eisenberger 2013
-
-
-
Italy
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173868
?
PubMed: Eisenberger 2013
-
-
-
Germany
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173869
12DG2585
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173870
?
PubMed: Gal 2000
-
-
-
(Germany)
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173871
W78-1
PubMed: Huang 2015
-
M
-
China
-
-
-
-
-
retinal disease
best corrected visual acuity 0.3/0.4
1
1
Isabelle Audo
00173872
RP191
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173873
?
PubMed: Eisenberger 2013
-
-
-
Turkey
-
-
-
-
-
LCA
-
1
1
Isabelle Audo
00173874
?
PubMed: Eisenberger 2013
-
-
-
Germany
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173875
3HV+M.66
PubMed: Ge 2015
2-generation family, affected mother/daughter
F
-
United States
-
-
-
-
-
retinal disease
-
1
2
Isabelle Audo
00173876
13001452
PubMed: Ellingford 2016
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173877
?
PubMed: Coppieters 2012
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
LCA
-
1
1
Isabelle Audo
00173878
?
PubMed: Gal 2000
-
-
-
-
(Germany)
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173879
Fi15/20
PubMed: Riera 2017
4-generation family, affected brother/sister
F;M
-
Spain
-
-
-
-
-
retinal disease
-
1
2
Isabelle Audo
00173880
22128245-FamW09–0038
PubMed: Siemiatkowska 2011
2-generation family, affected sister/brother, unaffected parents
F;M
-
Indonesia
-
-
-
-
-
retinal disease
-
1
2
Isabelle Audo
00173881
?
PubMed: Gal 2000
-
-
-
-
(Germany)
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173882
?
PubMed: Audo 2018
-
-
-
Lebanon
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173883
?
PubMed: Audo 2018
-
-
-
France
-
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173884
?
PubMed: Audo 2018
-
-
-
Albania
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173885
?
PubMed: McHenry 2004
-
-
-
United States
-
-
-
-
-
CORD
-
3
1
Isabelle Audo
00173886
RP282
PubMed: Xu 2014
-
-
-
United States
-
-
-
-
-
retinal disease
-
3
1
Isabelle Audo
00173887
?
PubMed: Al-Khersan 2017
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother
-
no
United States
-
-
-
-
-
CORD
-
2
1
Isabelle Audo
00173888
Fam16
PubMed: Coppieters 2014
see paper
-
yes
Turkey
-
-
-
-
-
retinal disease
-
1
2
Isabelle Audo
00173889
?
PubMed: Ebermann 2007
-
-
-
Morocco
-
-
-
-
-
CORD
-
1
1
Isabelle Audo
00173890
?
PubMed: O'Sullivan 2012
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173891
?
PubMed: Tschernutter 2006
-
-
-
-
Middle East
-
-
-
-
retinal disease
RCD with early onset macular involvement
1
1
Isabelle Audo
00173892
31
PubMed: Wang 2014b
-
F
-
United States
-
-
-
-
-
CORD
-
2
1
Isabelle Audo
00173893
?
PubMed: Coppieters 2012
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
LCA
-
1
1
Isabelle Audo
00173894
13DG0999
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173895
5VR+W.92
PubMed: Ge 2015
simplex case
-
-
United States
America-N
-
-
-
-
retinal disease
-
2
1
Isabelle Audo
00173896
13005790
PubMed: Ellingford 2016
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173897
?
PubMed: Ksantini 2012
-
-
-
Morocco
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173898
OGI-294-638
PubMed: Consugar 2015
-
-
-
United States
-
-
-
-
-
CORD
-
1
1
Isabelle Audo
00173899
?
PubMed: Eisenberger 2013
-
-
-
Saudi Arabia
-
-
-
-
-
LCA
-
1
1
Isabelle Audo
00173900
?
PubMed: Siemiatkowska 2011
-
-
-
Indonesia
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173901
?
PubMed: Collin 2011
-
-
-
Netherlands
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173902
?
PubMed: Tada 2006
-
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Isabelle Audo
00173903
?
PubMed: Li 2011
-
-
-
China
-
-
-
-
-
LCA
-
1
1
Isabelle Audo
00232326
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232327
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232328
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
229
Yoshito Koyanagi
00232329
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232330
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232331
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232332
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
2
Yoshito Koyanagi
00232333
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
2
Yoshito Koyanagi
00232334
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232335
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232336
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
4
Yoshito Koyanagi
00232337
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232338
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
1
Yoshito Koyanagi
00232339
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
424
Yoshito Koyanagi
00232340
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
retinal disease
-
1
7
Yoshito Koyanagi
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