Global Variome shared LOVD
RPGRIP1 (retinitis pigmentosa GTPase regulator inte...)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View RPGRIP1 gene homepage
View graphs about the RPGRIP1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene RPGRIP1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene RPGRIP1
View all variants in gene RPGRIP1
Full data view for gene RPGRIP1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene RPGRIP1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene RPGRIP1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene RPGRIP1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All individuals with variants in gene RPGRIP1
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.
478 entries on 5 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
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
00000223
UNC64
PubMed: Antony 2013
-
-
-
United States
-
-
-
-
-
CILD14
-
1
1
Hannah Mitchison
00016610
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
Christopher Watson
00033156
-
-
-
F
-
-
-
-
-
-
-
retinal disease
obesity, familial hypercholesterolemia, recurrent cystitis (5y), heart murmur
1
1
Kornelia Neveling
00033352
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
LCA
-
2
1
Leen Abu Safieh
00033353
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
?
Retinitis punctata albescens
2
1
Leen Abu Safieh
00033354
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
RD
-
2
1
Leen Abu Safieh
00033355
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
?
Rod Dystrophy
2
1
Leen Abu Safieh
00033356
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
LCA
-
2
1
Leen Abu Safieh
00033357
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
LCA
-
2
1
Leen Abu Safieh
00033361
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
CORD
-
2
1
Leen Abu Safieh
00033362
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
LCA
gliosis
2
1
Leen Abu Safieh
00033363
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
LCA
-
2
1
Leen Abu Safieh
00033588
-
-
family with 2 affecteds
-
yes
India
-
-
-
-
-
retinal disease
-
2
2
Chitra Kannabiran
00033605
Pat1bl
PubMed: Neveling 2013
-
-
-
-
-
-
-
-
-
CORD
Cone-rod dystrophy with nystagmus
2
1
Marcel Nelen
00033606
-
PubMed: Neveling 2013
confirmed in affected sib
-
-
-
-
-
-
-
-
retinal disease
-
2
1
Marcel Nelen
00033607
Pat8bl
PubMed: Neveling 2013
confirmed in affected sib
-
-
-
-
-
-
-
-
retinal disease
-
2
1
Marcel Nelen
00033722
-
-
-
M
yes
India
India, south
-
-
-
-
LCA
-
1
1
Soumittra Nagasamy
00033723
-
-
-
M
yes
India
India, south
-
-
-
-
LCA
-
1
1
Soumittra Nagasamy
00033724
-
-
-
F
yes
India
India, north
-
-
-
-
LCA
-
1
1
Soumittra Nagasamy
00033725
-
-
-
M
no
India
India, south
-
-
-
-
LCA
-
2
1
Soumittra Nagasamy
00038056
-
PubMed: Vallespin 2007
-
M
?
Spain
Spanish
-
-
-
-
LCA
?
1
2
Frans Cremers
00038058
-
PubMed: Vallespin 2007
-
M
?
Spain
Spanish
-
-
-
-
LCA
?
1
2
Frans Cremers
00038059
-
PubMed: Vallespin 2007
-
M
?
Spain
Spanish
-
-
-
-
LCA
?
1
2
Frans Cremers
00038076
-
PubMed: Vallespin 2007
-
?
?
Spain
Spanish
-
-
-
-
retinal disease
?
1
1
Frans Cremers
00100118
61312
PubMed: Li 2017
-
F
yes
Pakistan
Pakistani
-
-
-
-
LCA
-
1
1
James Hejtmancik
00105038
-
PubMed: de Castro-Miró 2014
-
M
no
Spain
-
-
-
-
-
LCA
-
2
1
Marta de Castro-Miró
00155548
-
Sharon, submitted
-
M
no
Israel
Jewish-Ashkenazi
-
-
-
-
LCA
-
1
2
Dror Sharon
00155549
-
Sharon, submitted
-
M
yes
Israel
Arab-Muslim
-
-
-
-
LCA
-
1
3
Dror Sharon
00155550
-
Sharon, submitted
-
M
yes
Israel
Arab-Muslim
-
-
-
-
retinal disease
-
1
1
Dror Sharon
00173892
31
PubMed: Wang 2014b
-
F
-
United States
-
-
-
-
-
CORD
-
1
1
Isabelle Audo
00240460
-
-
-
F
-
Mexico
-
-
-
-
-
RD
-
1
1
Juan Carlos Zenteno
00240461
-
-
-
F
-
Mexico
-
-
-
-
-
RD
-
1
1
Juan Carlos Zenteno
00269583
-
-
-
F
-
Korea
-
-
-
-
-
LCA
-
1
1
Jinu Han
00269584
-
-
-
M
-
Korea
-
-
-
-
-
LCA
-
2
1
Jinu Han
00269585
-
-
-
M
no
Korea
-
-
-
-
-
LCA
-
1
1
Jinu Han
00269592
-
-
-
M
no
Korea
-
-
-
-
-
LCA
-
2
1
Jinu Han
00290971
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
209
Mohammed Faruq
00290972
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
3
Mohammed Faruq
00290973
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
1
Mohammed Faruq
00290974
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
18
Mohammed Faruq
00304420
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
5
Mohammed Faruq
00304421
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
1
Mohammed Faruq
00308399
CIC06321
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00308560
-
PubMed: Holtan 2020
2 patients with variant in heterozygous or compound heterozygous form
-
-
Norway
-
-
-
-
-
retinal disease
-
1
2
Global Variome, with Curator vacancy
00308624
-
PubMed: Holtan 2020
1 homozygous patient
-
-
Norway
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00309408
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00309409
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00309410
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00309411
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00309412
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00325456
3275
PubMed: Zenteno 2020
single patient
-
-
Mexico
-
-
-
-
-
retinal disease
retinitis pigmentosa
1
1
Johan den Dunnen
00325458
3292
PubMed: Zenteno 2020
single patient
-
-
Mexico
-
-
-
-
-
retinal disease
syndromic retinal dystrophy
1
1
Johan den Dunnen
00325473
3483
PubMed: Zenteno 2020
-
-
-
Mexico
-
-
-
-
-
retinal disease
Leber congenital amaurosis
1
1
Johan den Dunnen
00325490
3592
PubMed: Zenteno 2020
-
-
-
Mexico
-
-
-
-
-
retinal disease
Leber congenital amaurosis
1
1
Johan den Dunnen
00327953
B240213
PubMed: Carss 2017
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
retinal disease
-
2
1
LOVD
00328173
G007341
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
retinal disease
-
1
1
LOVD
00328328
W000332
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Asia-South
-
-
-
-
retinal disease
-
1
1
LOVD
00328336
W000370
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
retinal disease
-
1
1
LOVD
00328496
15004859
PubMed: Taylor 2017
no family history retinal disease
M
-
United Kingdom (Great Britain)
-
-
-
-
-
retinal disease
retinal dystrophy (HP:0000556)
2
1
LOVD
00332200
JB307
PubMed: Bryant 2018
-
-
-
United States
-
-
-
-
-
retinal disease
-
1
1
LOVD
00332210
JB284
PubMed: Bryant 2018
-
-
-
United States
-
-
-
-
-
retinal disease
-
1
1
LOVD
00332216
JB285
PubMed: Bryant 2018
-
-
-
United States
-
-
-
-
-
retinal disease
-
2
1
LOVD
00332217
JB124
PubMed: Bryant 2018
-
-
-
United States
-
-
-
-
-
retinal disease
-
1
1
LOVD
00332353
Fam479
PubMed: Thompson 2017
family, 2 affected
-
-
Australia
-
-
-
-
-
retinal disease
see paper; ...
3
2
LOVD
00332354
Fam1642
PubMed: Thompson 2017
family, 2 affected
-
-
Australia
-
-
-
-
-
retinal disease
see paper; ...
2
2
LOVD
00332388
Pat9
PubMed: Rim 2017
-
M
-
Korea
-
-
-
-
-
retinal disease
horizontal jerk nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished
2
1
LOVD
00332389
Pat10
PubMed: Rim 2017
-
M
-
Korea
-
-
-
-
-
retinal disease
horizontal jerk nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished
1
1
LOVD
00332408
Pat8
PubMed: Han 2017
-
-
-
Korea
-
-
-
-
-
retinal disease
see paper; ...
1
1
Johan den Dunnen
00332409
Pat9
PubMed: Han 2017
-
-
-
Korea
-
-
-
-
-
retinal disease
see paper; ...
2
1
Johan den Dunnen
00332471
Pat41
PubMed: Di Iorio 2017
-
-
-
Italy
-
-
-
-
-
retinal disease
see paper; ...
2
1
LOVD
00333357
Pat6
PubMed: Costa 2017
-
M
-
Brazil
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00333366
Pat11
PubMed: Costa 2017
-
F
-
Brazil
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00333427
RD15–01
PubMed: Wang 2017
-
-
-
United States
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00333430
RD13–08
PubMed: Wang 2017
-
-
-
United States
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00333457
RKK_209
PubMed: Soens 2017
possible duplicate
-
-
-
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00333466
FBP_353
PubMed: Soens 2017
possible duplicate
-
-
-
-
-
-
-
-
retinal disease
see paper; ...
2
1
LOVD
00333478
DGB_032
PubMed: Soens 2017
possible duplicate
-
-
-
-
-
-
-
-
retinal disease
see paper; ...
2
1
LOVD
00333964
426
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
retinal disease
clinical category IA2b
1
1
LOVD
00333965
427
PubMed: Stone 2017
1 affected
F
-
(United States)
-
-
-
-
-
retinal disease
clinical category IA2b
2
1
LOVD
00335168
2533
PubMed: Haer-Wigman 2017
patient
-
no
Netherlands
-
-
-
-
-
?
0y-diagnosis visual impairment
2
1
LOVD
00335239
Fi15/12
PubMed: Riera 2017
patient
-
-
Spain
-
-
-
-
-
retinal disease
-
2
1
LOVD
00335342
Pat105
PubMed: Bravo-Gil 2017
-
-
-
Spain
-
-
-
-
-
retinal disease
see paper; ...
1
1
Nereida Bravo Gil
00335498
IRD002
PubMed: Bernardis 2016
-
-
Italy
-
-
-
-
-
retinal disease
see paper; ...
2
1
LOVD
00335593
-
PubMed: Booij 2005
unknown variant 2nd chromosome; not in 60 controls
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335594
-
PubMed: Booij 2005
unknown variant 2nd chromosome; not in 60 controls
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335614
-
PubMed: Dryja 2001
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335615
-
PubMed: Dryja 2001
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335616
-
PubMed: Dryja 2001
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335617
-
PubMed: Dryja 2001
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335618
-
PubMed: Dryja 2001
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335619
-
Miller 1988
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335620
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335621
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00335622
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Julia Lopez
00358913
Fam25
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents
-
-
China
Han
-
-
-
-
retinal disease
see paper; ...
2
1
LOVD
00358914
Fam26
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents/relatives
-
-
China
Han
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00358915
Fam27
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents/relatives
-
-
China
Han
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00358916
Fam28
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous mother
-
-
China
Han
-
-
-
-
retinal disease
see paper; ...
2
1
LOVD
00358930
Case27536
PubMed: Tiwari 2016
-
-
-
Turkey
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00358951
Case71927
PubMed: Tiwari 2016
see paper
F
-
Switzerland
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators