Disease #04214 (retinal disease)

Official abbreviation	-
Name	retinal disease
OMIM ID	-
Inheritance	-
Individuals reported having this disease	48178
Phenotype entries for this disease	45681
Associated with 13 genes	ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-02-27 19:48:07 +01:00 (CET)
Date last edited	2023-03-09 14:26:26 +01:00 (CET)

Individuals

Legend

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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.

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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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>=	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
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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48178 entries on 482 pages. Showing entries 1 - 100.

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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
00000101	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	retinal disease	diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization	ATP7B, ETFB, GLB1, NPHS1, SERPINA1	ATP7B, CYP4V2, ETFB, GLB1, IMPG1, MPL, NPHS1, RHO, SERPINA1, TIMP3, TMPPE	7	1	Global Variome, with Curator vacancy
00032862	-	PubMed: Chen 2010	also found in affected sister II.6, never both variants in unaffected family members suggesting autosmal recessive RP	F	-	China	-	-	-	-	-	retinal disease	non-syndromic	RP1	RP1	2	2	Christina Zeitz
00032870	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032902	-	-	-	-	-	-	-	-	-	-	-	retinal disease	simplex	RP1	RP1	1	1	Christina Zeitz
00032904	-	-	-	-	-	-	-	-	-	-	-	retinal disease	simplex	RP1	RP1	1	1	Christina Zeitz
00032948	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032956	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032957	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032958	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032962	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032963	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032969	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032972	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032973	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032974	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032976	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032977	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032981	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00032982	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Christina Zeitz
00033003	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033009	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033010	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033011	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033023	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033024	-	-	seen in 4 affecteds	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	4	Johan den Dunnen
00033025	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033026	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033027	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	109	Johan den Dunnen
00033028	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033029	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033030	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	128	Johan den Dunnen
00033031	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033032	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Johan den Dunnen
00033033	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	2	93	Johan den Dunnen
00033034	-	-	-	-	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	13	Johan den Dunnen
00033087	-	-	-	F	-	-	-	-	-	-	-	retinal disease	clumped pigmentary retinal degeneration	ABCA4, CA4, RP2	ABCA4, CA4, RP2	4	1	Kornelia Neveling
00033088	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	TOPORS	TOPORS	1	1	Kornelia Neveling
00033089	FamG	PubMed: Van Huet 2014, PubMed: Neveling 2012	2-generation family, 2 affected (F, M)	F;M	yes	-	-	-	-	-	-	retinal disease	-	ELOVL4, IMPG2	ELOVL4, IMPG2	4	2	Kornelia Neveling
00033090	-	-	-	M	-	-	-	-	-	-	-	retinal disease	hearing loss	CA4	CA4	1	1	Kornelia Neveling
00033091	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	CC2D2A, CRB1, RP2, SEMA4A, TOPORS	CC2D2A, CRB1, RP2, SEMA4A, TOPORS	6	1	Kornelia Neveling
00033092	-	-	-	M	-	-	-	-	-	-	-	retinal disease	hearing loss	CRB1, TOPORS	CRB1, TOPORS	2	1	Kornelia Neveling
00033093	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	ABCA4, CRB1, SEMA4A, TOPORS	ABCA4, CRB1, SEMA4A, TOPORS	5	1	Kornelia Neveling
00033094	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCA1B, RP2	GUCA1B, RP2	3	1	Kornelia Neveling
00033095	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	PDE6B, PRPH2, RGR, SNRNP200	PDE6B, PRPH2, RGR, SNRNP200	5	1	Kornelia Neveling
00033096	-	PubMed: Neveling 2012	-	M	no	-	-	-	-	-	-	retinal disease	-	AHI1, EYS, PDE6B	AHI1, EYS, PDE6B	6	1	Kornelia Neveling
00033097	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033098	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCY2D, RP1	GUCY2D, RP1	2	1	Kornelia Neveling
00033099	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	2	1	Kornelia Neveling
00033100	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	GUCA1A	GUCA1A	1	1	Kornelia Neveling
00033101	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	RP2	RP2	1	1	Kornelia Neveling
00033102	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Kornelia Neveling
00033103	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	RP1	RP1	1	1	Kornelia Neveling
00033104	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCY2D, RPGR	GUCY2D, RPGR	4	1	Kornelia Neveling
00033105	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200	CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200	6	1	Kornelia Neveling
00033106	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	CRB1, PDE6B, SEMA4A	CRB1, PDE6B, SEMA4A	3	1	Kornelia Neveling
00033107	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	CACNA1F, TOPORS	CACNA1F, TOPORS	3	1	Kornelia Neveling
00033108	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCA1B, RPE65	GUCA1B, RPE65	3	1	Kornelia Neveling
00033109	-	PubMed: Neveling 2012	-	F	no	-	-	-	-	-	-	retinal disease	-	CACNA1F, EYS, GUCA1B, PDE6B	CACNA1F, EYS, GUCA1B, PDE6B	4	1	Kornelia Neveling
00033110	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033111	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	TOPORS	TOPORS	1	1	Kornelia Neveling
00033112	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCA1B, PDE6B	GUCA1B, PDE6B	2	1	Kornelia Neveling
00033113	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	CACNA1F	CACNA1F	1	1	Kornelia Neveling
00033114	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	ELOVL4, RIMS1	ELOVL4, RIMS1	3	1	Kornelia Neveling
00033115	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	INVS, PDE6B	INVS, PDE6B	3	1	Kornelia Neveling
00033116	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	CACNA1F, PRPH2, SNRNP200	CACNA1F, PRPH2, SNRNP200	3	1	Kornelia Neveling
00033117	-	-	-	M	-	-	-	-	-	-	-	retinal disease	secundary photoreceptor damage due to uveÔtis ODS	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033118	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	CACNA1F, RPGR, SNRNP200	CACNA1F, RPGR, SNRNP200	3	1	Kornelia Neveling
00033119	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	CC2D2A, SNRNP200	CC2D2A, SNRNP200	3	1	Kornelia Neveling
00033120	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	RHO, RPGR	RHO, RPGR	2	1	Kornelia Neveling
00033121	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	SPATA7	SPATA7	2	1	Kornelia Neveling
00033122	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	PDE6B	PDE6B	3	1	Kornelia Neveling
00033123	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	GUCY2D, SNRNP200	GUCY2D, SNRNP200	3	1	Kornelia Neveling
00033124	-	-	-	F	-	-	-	-	-	-	-	retinal disease	dystrophy, macular, juvenile	ABCA4, GUCA1B, RP2	ABCA4, GUCA1B, RP2	4	1	Kornelia Neveling
00033125	-	-	-	F	-	-	-	-	-	-	-	retinal disease	early onset; mild intellectual disability, obesitas	C2orf71, SEMA4A, SNRNP200	C2orf71, SEMA4A, SNRNP200	4	1	Kornelia Neveling
00033126	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	CA4, PDE6B, TOPORS	CA4, PDE6B, TOPORS	3	1	Kornelia Neveling
00033127	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	CA4, GUCA1B, RGR	CA4, GUCA1B, RGR	3	1	Kornelia Neveling
00033128	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	PDE6B	PDE6B	2	1	Kornelia Neveling
00033129	-	-	-	M	-	-	-	-	-	-	-	retinal disease	onset childhood; retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; tinnitus: BAE normal	RPE65, TOPORS	RPE65, TOPORS	3	1	Kornelia Neveling
00033130	-	-	-	M	-	-	-	-	-	-	-	retinal disease	Wilm's tumor	ABCA4, GUCY2D, NPHP3, PDE6B, RP9	ABCA4, GUCY2D, NPHP3, PDE6B, RP9	7	1	Kornelia Neveling
00033131	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	PDE6B	PDE6B	2	1	Kornelia Neveling
00033132	-	PubMed: Neveling 2012	-	M	no	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD)	ABCA4, EYS, GUCY2D	ABCA4, EYS, GUCY2D	4	1	Kornelia Neveling
00033133	-	-	-	M	-	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD)	GUCA1A	GUCA1A	1	1	Kornelia Neveling
00033134	-	-	-	M	-	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability	CEP290, CRX, RIMS1	CEP290, CRX, RIMS1	4	1	Kornelia Neveling
00033135	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	CACNA1F, SEMA4A	CACNA1F, SEMA4A	2	1	Kornelia Neveling
00033136	-	-	-	M	-	-	-	-	-	-	-	retinal disease	congenital stationary night blindness	CACNA1F, PDE6B	CACNA1F, PDE6B	2	1	Kornelia Neveling
00033137	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	ABCA4	ABCA4	2	1	Kornelia Neveling
00033138	-	-	-	M	-	-	-	-	-	-	-	retinal disease	hypertension	GUCY2D, PDE6B, RP1, SEMA4A	GUCY2D, PDE6B, RP1, SEMA4A	7	1	Kornelia Neveling
00033139	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCY2D	GUCY2D	1	1	Kornelia Neveling
00033140	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	AIPL1, RHO	AIPL1, RHO	2	1	Kornelia Neveling
00033141	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCY2D, PROM1, RPGR, TOPORS	GUCY2D, PROM1, RPGR, TOPORS	4	1	Kornelia Neveling
00033142	-	-	-	M	-	-	-	-	-	-	-	retinal disease	age-related mild hearing loss, psoriasis	CACNA1F, PDE6B	CACNA1F, PDE6B	3	1	Kornelia Neveling
00033143	-	-	-	F	-	-	-	-	-	-	-	retinal disease	diabetes mellitus, hypertension, hearing loss	CEP290, SEMA4A	CEP290, SEMA4A	3	1	Kornelia Neveling
00033144	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	CRB1, PDE6B, SEMA4A	CRB1, PDE6B, SEMA4A	5	1	Kornelia Neveling
00033145	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCA1B, SNRNP200	GUCA1B, SNRNP200	2	1	Kornelia Neveling
00033146	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	C2orf71, CACNA2D4, CRB1, PDE6B	C2orf71, CACNA2D4, CRB1, PDE6B	5	1	Kornelia Neveling
00033147	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	PROM1, PRPF31	PROM1, PRPF31	2	1	Kornelia Neveling
00033148	-	-	-	M	-	-	-	-	-	-	-	retinal disease	Mantle cell lymphoma	RPGR, SEMA4A	RPGR, SEMA4A	2	1	Kornelia Neveling
00033149	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033150	-	-	-	F	-	-	-	-	-	-	-	retinal disease	malignant hypertension with renal failure, followed by transplant	GUCY2D	GUCY2D	1	1	Kornelia Neveling
00033151	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	GUCY2D	GUCY2D	1	1	Kornelia Neveling

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Global Variome shared LOVD

MYOD1 (myogenic differentiation 1)