Disease #04214

Official abbreviation	RP
Name	retinitis pigmentosa (RP)
OMIM ID	-
Individuals reported having this disease	1325
Phenotype entries for this disease	1310
Associated with 2 genes	MERTK, USH2A
Associated tissues	-
Disease features	-
Remarks	-

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:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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))
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. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age/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.

1325 entries on 14 pages. Showing entries 1 - 100.

	Legend	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age/Death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00032862	-	PubMed: Chen 2010	also found in affected sister II.6, never both variants in unaffected family members suggesting autosmal recessive RP	F	-	China	-	-	-	-	RP	non-syndromic	RP1	RP1	2	2	Christina Zeitz
00032870	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032902	-	-	-	-	-	-	-	-	-	-	RP	simplex	RP1	RP1	1	1	Christina Zeitz
00032904	-	-	-	-	-	-	-	-	-	-	RP	simplex	RP1	RP1	1	1	Christina Zeitz
00032948	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032956	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032957	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032958	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032962	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032963	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032969	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032972	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032973	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032974	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032976	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032977	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032981	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00032982	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Christina Zeitz
00033003	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033009	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033010	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033011	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033023	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033024	-	-	seen in 4 affecteds	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	4	Johan den Dunnen
00033025	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033026	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033027	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	109	Johan den Dunnen
00033028	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033029	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033030	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	128	Johan den Dunnen
00033031	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033032	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Johan den Dunnen
00033033	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	2	93	Johan den Dunnen
00033034	-	-	-	-	-	-	-	-	-	-	RP	-	RP1	RP1	1	13	Johan den Dunnen
00033087	-	-	-	F	-	-	-	-	-	-	RP	clumped pigmentary retinal degeneration	ABCA4, CA4, RP2	ABCA4, CA4, RP2	4	1	Kornelia Neveling
00033088	-	-	-	M	-	-	-	-	-	-	RP	-	TOPORS	TOPORS	1	1	Kornelia Neveling
00033089	-	-	-	F	-	-	-	-	-	-	RP	-	ELOVL4, IMPG2	ELOVL4, IMPG2	4	1	Kornelia Neveling
00033090	-	-	-	M	-	-	-	-	-	-	RP	hearing loss	CA4	CA4	1	1	Kornelia Neveling
00033091	-	-	-	M	-	-	-	-	-	-	RP	-	CC2D2A, CRB1, RP2, SEMA4A, TOPORS	CC2D2A, CRB1, RP2, SEMA4A, TOPORS	6	1	Kornelia Neveling
00033092	-	-	-	M	-	-	-	-	-	-	RP	hearing loss	CRB1, TOPORS	CRB1, TOPORS	2	1	Kornelia Neveling
00033093	-	-	-	M	-	-	-	-	-	-	RP	-	ABCA4, CRB1, SEMA4A, TOPORS	ABCA4, CRB1, SEMA4A, TOPORS	5	1	Kornelia Neveling
00033094	-	-	-	M	-	-	-	-	-	-	RP	-	GUCA1B, RP2	GUCA1B, RP2	3	1	Kornelia Neveling
00033095	-	-	-	M	-	-	-	-	-	-	RP	-	PDE6B, PRPH2, RGR, SNRNP200	PDE6B, PRPH2, RGR, SNRNP200	5	1	Kornelia Neveling
00033096	-	PubMed: Neveling 2012	-	M	no	-	-	-	-	-	RP	-	AHI1, EYS, PDE6B	AHI1, EYS, PDE6B	6	1	Kornelia Neveling
00033097	-	-	-	F	-	-	-	-	-	-	RP	-	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033098	-	-	-	M	-	-	-	-	-	-	RP	-	GUCY2D, RP1	GUCY2D, RP1	2	1	Kornelia Neveling
00033099	-	-	-	M	-	-	-	-	-	-	RP	-	RP1	RP1	2	1	Kornelia Neveling
00033100	-	-	-	F	-	-	-	-	-	-	RP	-	GUCA1A	GUCA1A	1	1	Kornelia Neveling
00033101	-	-	-	M	-	-	-	-	-	-	RP	-	RP2	RP2	1	1	Kornelia Neveling
00033102	-	-	-	M	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Kornelia Neveling
00033103	-	-	-	F	-	-	-	-	-	-	RP	-	RP1	RP1	1	1	Kornelia Neveling
00033104	-	-	-	M	-	-	-	-	-	-	RP	-	GUCY2D, RPGR	GUCY2D, RPGR	4	1	Kornelia Neveling
00033105	-	-	-	M	-	-	-	-	-	-	RP	-	CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200	CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200	6	1	Kornelia Neveling
00033106	-	-	-	M	-	-	-	-	-	-	RP	-	CRB1, PDE6B, SEMA4A	CRB1, PDE6B, SEMA4A	3	1	Kornelia Neveling
00033107	-	-	-	F	-	-	-	-	-	-	RP	-	CACNA1F, TOPORS	CACNA1F, TOPORS	3	1	Kornelia Neveling
00033108	-	-	-	M	-	-	-	-	-	-	RP	-	GUCA1B, RPE65	GUCA1B, RPE65	3	1	Kornelia Neveling
00033109	-	PubMed: Neveling 2012	-	F	no	-	-	-	-	-	RP	-	CACNA1F, EYS, GUCA1B, PDE6B	CACNA1F, EYS, GUCA1B, PDE6B	4	1	Kornelia Neveling
00033110	-	-	-	F	-	-	-	-	-	-	RP	-	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033111	-	-	-	M	-	-	-	-	-	-	RP	-	TOPORS	TOPORS	1	1	Kornelia Neveling
00033112	-	-	-	M	-	-	-	-	-	-	RP	-	GUCA1B, PDE6B	GUCA1B, PDE6B	2	1	Kornelia Neveling
00033113	-	-	-	F	-	-	-	-	-	-	RP	-	CACNA1F	CACNA1F	1	1	Kornelia Neveling
00033114	-	-	-	F	-	-	-	-	-	-	RP	-	ELOVL4, RIMS1	ELOVL4, RIMS1	3	1	Kornelia Neveling
00033115	-	-	-	M	-	-	-	-	-	-	RP	-	INVS, PDE6B	INVS, PDE6B	3	1	Kornelia Neveling
00033116	-	-	-	F	-	-	-	-	-	-	RP	-	CACNA1F, PRPH2, SNRNP200	CACNA1F, PRPH2, SNRNP200	3	1	Kornelia Neveling
00033117	-	-	-	M	-	-	-	-	-	-	RP	secundary photoreceptor damage due to uveÔtis ODS	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033118	-	-	-	F	-	-	-	-	-	-	RP	-	CACNA1F, RPGR, SNRNP200	CACNA1F, RPGR, SNRNP200	3	1	Kornelia Neveling
00033119	-	-	-	M	-	-	-	-	-	-	RP	-	CC2D2A, SNRNP200	CC2D2A, SNRNP200	3	1	Kornelia Neveling
00033120	-	-	-	F	-	-	-	-	-	-	RP	-	RHO, RPGR	RHO, RPGR	2	1	Kornelia Neveling
00033121	-	-	-	F	-	-	-	-	-	-	RP	-	SPATA7	SPATA7	2	1	Kornelia Neveling
00033122	-	-	-	M	-	-	-	-	-	-	RP	-	PDE6B	PDE6B	3	1	Kornelia Neveling
00033123	-	-	-	F	-	-	-	-	-	-	RP	-	GUCY2D, SNRNP200	GUCY2D, SNRNP200	3	1	Kornelia Neveling
00033124	-	-	-	F	-	-	-	-	-	-	RP	dystrophy, macular, juvenile	ABCA4, GUCA1B, RP2	ABCA4, GUCA1B, RP2	4	1	Kornelia Neveling
00033125	-	-	-	F	-	-	-	-	-	-	RP	early onset; mild intellectual disability, obesitas	C2orf71, SEMA4A, SNRNP200	C2orf71, SEMA4A, SNRNP200	4	1	Kornelia Neveling
00033126	-	-	-	F	-	-	-	-	-	-	RP	-	CA4, PDE6B, TOPORS	CA4, PDE6B, TOPORS	3	1	Kornelia Neveling
00033127	-	-	-	F	-	-	-	-	-	-	RP	-	CA4, GUCA1B, RGR	CA4, GUCA1B, RGR	3	1	Kornelia Neveling
00033128	-	-	-	M	-	-	-	-	-	-	RP	-	PDE6B	PDE6B	2	1	Kornelia Neveling
00033129	-	-	-	M	-	-	-	-	-	-	RP	onset childhood; retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; tinnitus: BAE normal	RPE65, TOPORS	RPE65, TOPORS	3	1	Kornelia Neveling
00033130	-	-	-	M	-	-	-	-	-	-	RP	Wilm's tumor	ABCA4, GUCY2D, NPHP3, PDE6B, RP9	ABCA4, GUCY2D, NPHP3, PDE6B, RP9	7	1	Kornelia Neveling
00033131	-	-	-	M	-	-	-	-	-	-	RP	-	PDE6B	PDE6B	2	1	Kornelia Neveling
00033132	-	PubMed: Neveling 2012	-	M	no	-	-	-	-	-	RP	retinal degeneration, severe, early onset (EOSRD)	ABCA4, EYS, GUCY2D	ABCA4, EYS, GUCY2D	4	1	Kornelia Neveling
00033133	-	-	-	M	-	-	-	-	-	-	RP	retinal degeneration, severe, early onset (EOSRD)	GUCA1A	GUCA1A	1	1	Kornelia Neveling
00033134	-	-	-	M	-	-	-	-	-	-	RP	retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability	CEP290, CRX, RIMS1	CEP290, CRX, RIMS1	4	1	Kornelia Neveling
00033135	-	-	-	F	-	-	-	-	-	-	RP	-	CACNA1F, SEMA4A	CACNA1F, SEMA4A	2	1	Kornelia Neveling
00033136	-	-	-	M	-	-	-	-	-	-	RP	congenital stationary night blindness	CACNA1F, PDE6B	CACNA1F, PDE6B	2	1	Kornelia Neveling
00033137	-	-	-	F	-	-	-	-	-	-	RP	-	ABCA4	ABCA4	2	1	Kornelia Neveling
00033138	-	-	-	M	-	-	-	-	-	-	RP	hypertension	GUCY2D, PDE6B, RP1, SEMA4A	GUCY2D, PDE6B, RP1, SEMA4A	7	1	Kornelia Neveling
00033139	-	-	-	M	-	-	-	-	-	-	RP	-	GUCY2D	GUCY2D	1	1	Kornelia Neveling
00033140	-	-	-	M	-	-	-	-	-	-	RP	-	AIPL1, RHO	AIPL1, RHO	2	1	Kornelia Neveling
00033141	-	-	-	M	-	-	-	-	-	-	RP	-	GUCY2D, PROM1, RPGR, TOPORS	GUCY2D, PROM1, RPGR, TOPORS	4	1	Kornelia Neveling
00033142	-	-	-	M	-	-	-	-	-	-	RP	age-related mild hearing loss, psoriasis	CACNA1F, PDE6B	CACNA1F, PDE6B	3	1	Kornelia Neveling
00033143	-	-	-	F	-	-	-	-	-	-	RP	diabetes mellitus, hypertension, hearing loss	CEP290, SEMA4A	CEP290, SEMA4A	3	1	Kornelia Neveling
00033144	-	-	-	M	-	-	-	-	-	-	RP	-	CRB1, PDE6B, SEMA4A	CRB1, PDE6B, SEMA4A	5	1	Kornelia Neveling
00033145	-	-	-	M	-	-	-	-	-	-	RP	-	GUCA1B, SNRNP200	GUCA1B, SNRNP200	2	1	Kornelia Neveling
00033146	-	-	-	M	-	-	-	-	-	-	RP	-	C2orf71, CACNA2D4, CRB1, PDE6B	C2orf71, CACNA2D4, CRB1, PDE6B	5	1	Kornelia Neveling
00033147	-	-	-	M	-	-	-	-	-	-	RP	-	PROM1, PRPF31	PROM1, PRPF31	2	1	Kornelia Neveling
00033148	-	-	-	M	-	-	-	-	-	-	RP	Mantle cell lymphoma	RPGR, SEMA4A	RPGR, SEMA4A	2	1	Kornelia Neveling
00033149	-	-	-	F	-	-	-	-	-	-	RP	-	SEMA4A	SEMA4A	1	1	Kornelia Neveling
00033150	-	-	-	F	-	-	-	-	-	-	RP	malignant hypertension with renal failure, followed by transplant	GUCY2D	GUCY2D	1	1	Kornelia Neveling
00033151	-	-	-	M	-	-	-	-	-	-	RP	-	GUCY2D	GUCY2D	1	1	Kornelia Neveling
00033152	-	-	-	M	-	-	-	-	-	-	RP	-	ABCA4, AIPL1, GUCY2D, NR2E3	ABCA4, AIPL1, GUCY2D, NR2E3	5	1	Kornelia Neveling

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