Disease #04249 (macular dystrophy (dystrophy, macular))

Official abbreviation	macular dystrophy
Name	dystrophy, macular
OMIM ID	-
Inheritance	-
Individuals reported having this disease	893
Phenotype entries for this disease	565
Associated with 4 genes	AP5B1, AP5M1, AP5Z1, SAMD7
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-05-04 22:10:58 +02:00 (CEST)
Date last edited	2024-02-15 21:18:39 +01:00 (CET)

Individuals

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

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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'

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893 entries on 9 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00038313	-	PubMed: Tsang 2014	2 generation family, 2 affected	F	no	United States	Irish	-	-	-	-	macular dystrophy	Macular dystrophy	CRB1	CRB1	2	2	Frans Cremers
00038314	-	PubMed: Tsang 2014	2 generation family, 2 affected	M	no	United States	Irish	-	-	-	-	macular dystrophy	Macular dystrophy	CRB1	CRB1	2	2	Frans Cremers
00077324	-	PubMed: Downes 2012	-	?	?	-	?	-	-	-	-	macular dystrophy	macular dystrophy	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00078084	-	PubMed: Bauwens 2014	-	?	?	Germany	?	-	-	-	-	macular dystrophy	macular dystrophy	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00078085	-	PubMed: Bauwens 2014	-	?	?	Germany	?	-	-	-	-	macular dystrophy	macular dystrophy	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00078086	-	PubMed: Bauwens 2014	-	?	?	Germany	?	-	-	-	-	macular dystrophy	macular dystrophy	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00078087	-	PubMed: Bauwens 2014	-	?	?	Germany	?	-	-	-	-	macular dystrophy	macular dystrophy	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00078088	-	PubMed: Bauwens 2014	-	?	?	Germany	?	-	-	-	-	macular dystrophy	macular dystrophy	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00078089	-	PubMed: Bauwens 2014	-	?	?	Germany	?	-	-	-	-	macular dystrophy	macular dystrophy	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00087599	-	PubMed: Stanga 2001	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	macular dystrophy	-	RS1	RS1	1	1	Johan den Dunnen
00087969	-	PubMed: Hotta 2003	2 affected	M	yes	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	1	1	Raheel Qamar
00087970	-	PubMed: Hotta 2003	2 affected	F	yes	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	1	1	Raheel Qamar
00087994	-	PubMed: Niwa 2005	?	M	?	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	2	1	Raheel Qamar
00088004	-	PubMed: Gonzalez-Fernandez 1999	2 affected	M	no	United States	German	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; light yellow discrete lesions	RDH5	RDH5	2	1	Raheel Qamar
00088005	-	PubMed: Gonzalez-Fernandez 1999	2 affected	F	no	United States	German	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; light yellow discrete lesions	RDH5	RDH5	2	1	Raheel Qamar
00088010	-	PubMed: Nakamura 2002	No Family Member had Eye Disease	M	?	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; yellow white dots, foveal atrophy	RDH5	RDH5	2	1	Raheel Qamar
00088011	-	PubMed: Niwa 2005	?	M	?	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	2	1	Raheel Qamar
00144269	-	PubMed: Haer-Wigman 2017	-	?	no	Netherlands	Dutch	-	-	-	-	macular dystrophy	Age diagnosis 32	EYS	EYS	2	1	Rob W.J. Collin
00144281	-	PubMed: Messchaert 2018, Journal: Messchaert 2018	-	M	-	Netherlands	Dutch	-	-	-	-	macular dystrophy	-	EYS	EYS	2	1	Rob W.J. Collin
00377567	-	-	-	-	-	China	-	-	-	-	-	macular dystrophy	bilateral yellowish yolk-like lesions in the macula	CCNC	CCNC	1	3	Ruifang Sui
00377571	FamA	PubMed: Small 2016	8-generation family, 51 affected	F;M	-	United States	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	51	Johan den Dunnen
00377572	FamB	PubMed: Small 2016	5-generation family, 13 affected (5F, 8M)	F;M	-	United States	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	13	Johan den Dunnen
00377573	FamC	PubMed: Small 2016	6-generation family, 18 affected (12F, 3M)	F;M	-	United States	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	18	Johan den Dunnen
00377574	FamD	PubMed: Small 2016	3-generation family, 7 affected (2F, 5M)	F;M	-	United States	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	7	Johan den Dunnen
00377575	FamE	PubMed: Small 2016	3-generation family, 4 affected (2F, 2M)	F;M	-	United States	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	4	Johan den Dunnen
00377576	FamF	PubMed: Small 2016	4-generation family, 8 affected (3F, 5M)	F;M	-	-	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	8	Johan den Dunnen
00377577	FamG	PubMed: Small 2016	5-generation family, 15 affected (8F, 7M)	F;M	-	France	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	15	Johan den Dunnen
00377578	FamH	PubMed: Small 2016	3-generation family, 5 affected (3F, 2M)	F;M	-	-	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	5	Johan den Dunnen
00377579	FamI	PubMed: Small 2016	5-generation family, 14 affected (4F, 10M)	F;M	-	-	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	14	Johan den Dunnen
00377580	FamJ	PubMed: Small 2016	3-generation family, 11 affected (3F)	F	-	-	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	3	Johan den Dunnen
00377581	FamK	PubMed: Small 2016	5-generation family, 17 affected (11F, 6M)	F;M	-	Belize	-	-	-	-	-	macular dystrophy	see paper; ...	-	PRDM13	1	17	Johan den Dunnen
00377582	FamL	PubMed: Small 2016	3-generation family, 11 affected (3F, 8M)	F;M	-	Denmark	-	-	-	-	-	macular dystrophy	see paper; ...	-	IRX1	1	11	Johan den Dunnen
00377584	FamGC4059	PubMed: Silva 2019	4-generation family, 15 affected (8F, 7M)	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	macular dystrophy	see paper; ...	-	-	1	15	Johan den Dunnen
00377585	FamGC21086	PubMed: Silva 2019	4-generation family, 5 affected (2F, 3M)	F;M	-	France	-	-	-	-	-	macular dystrophy	see paper; ...	-	-	1	5	Johan den Dunnen
00377586	FamGC20008	PubMed: Silva 2019	2-generation family, affected mother/son	F;M	-	-	Asia-Eas;white	-	-	-	-	macular dystrophy	see paper; ...	-	-	1	2	Johan den Dunnen
00377587	MOL1154	PubMed: Namburi 2020	4-generation family, 6 affected (6F)	F	-	Georgia	Jewish	-	-	-	-	macular dystrophy	see paper; ...	-	CFH, PRDM13	2	6	Johan den Dunnen
00378062	IR_SH_0041	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	macular dystrophy	HP:0000662, HP:0000613, HP:0001129, HP:0000007, HP:0007754	-	RP1	2	1	Jinu Han
00379541	IR_SH_0066	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	macular dystrophy	HP:0000662, HP:0000613, HP:0001129, HP:0003745, HP:0007754, HP:0032037	-	RP1	1	1	Jinu Han
00379654	IR_GS_0037	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	macular dystrophy	HP:0030515, HP:0001129, HP:0000551, HP:0003745, HP:0007754	-	RP1	2	1	Jinu Han
00380151	IR_GS_0191	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	macular dystrophy	HP:0001141, HP:0000662, HP:0000613, HP:0001123, HP:0000551, HP:0007754	-	RP1	2	1	Jinu Han
00450522	066782	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450523	067130	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450524	070843	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450525	070882	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	1	1	Rebekkah Hitti-Malin
00450526	071546	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450527	071575	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450528	071829	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450529	071932	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450530	071933	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450531	072059	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450532	072770	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450533	072778	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450534	072783	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450535	072786	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450536	072788	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450537	072789	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	1	1	Rebekkah Hitti-Malin
00450538	072791	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450539	072795	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450540	072796	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450541	072797	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450542	072798	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	4	1	Rebekkah Hitti-Malin
00450543	072799	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450544	072800	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450545	072802	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450546	072803	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450547	072804	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450548	072806	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450549	072807	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450550	072809	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450551	072811	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450552	072812	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450553	072813	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450554	072815	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450555	073303	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450556	073304	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450557	073308	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450558	073309	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450559	073310	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450560	073312	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450561	073314	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450562	073315	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450563	073316	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450564	073317	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450565	073318	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450566	073319	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450567	073320	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450568	073321	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	4	1	Rebekkah Hitti-Malin
00450569	073322	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450570	073323	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450571	073324	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450572	073327	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450573	073328	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450574	073329	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450575	073330	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450576	073337	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	3	1	Rebekkah Hitti-Malin
00450577	073338	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	1	1	Rebekkah Hitti-Malin
00450578	073340	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450579	073342	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450580	073345	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin
00450581	073391	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	-	ABCA4	2	1	Rebekkah Hitti-Malin

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Global Variome shared LOVD

SLC25A26 (solute carrier family 25 member 26)