All individuals with variants in gene IMPDH1

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.

208 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00033156	-	-	-	F	-	-	-	-	-	-	-	retinal disease	obesity, familial hypercholesterolemia, recurrent cystitis (5y), heart murmur	1	1	Kornelia Neveling
00050581	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum	1	1	Johan den Dunnen
00095921	61004	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	RPar	Progressive RP	1	1	James Hejtmancik
00207605	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	Marta de Castro-Miró
00232850	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00232851	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232852	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00232853	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232854	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232855	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232856	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232857	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232858	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232859	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00232860	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232861	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00232862	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	5	Yoshito Koyanagi
00232863	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232864	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232865	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00232866	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00299641	FamGC3626Pat2	PubMed: Arno 2017	2-generation family, 1 affeted	M	-	-	-	-	-	-	-	retinal disease	see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90	1	1	Johan den Dunnen
00308513	-	PubMed: Holtan 2020	2 patients with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308514	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308515	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309195	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00326685	-	PubMed: Ziviello 2005	-	-	-	Italy	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00332048	Pat186	PubMed: Birtel 2018	family	M	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG normal; photopic ERG normal	1	1	LOVD
00333345	RD11	PubMed: Villanueva 2018	4-generation family, 9 affected (5F, 4M)	F;M	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	9	LOVD
00333404	RD11–08	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333405	RD15–03	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333972	436	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2c	1	1	LOVD
00333973	437	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2c	1	1	LOVD
00334419	RP-121	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334573	374	PubMed: Vincent 2017	family, 2 affected, patient and mother	M	yes	New Zealand	Maori	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00335123	8748	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	50y-diagnosis visual impairment	1	1	LOVD
00335428	RP053	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335643	-	PubMed: Sullivan 2006	5 families	-	-	United States	-	-	-	-	-	retinal disease	-	1	20	Julia Lopez
00358779	BLM091	PubMed: Zhang 2016	family	M	-	United States	Hispanic	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359374	63	PubMed: Bravo-Gil 2016	see paper	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363419	-	PubMed: Coussa 2015	index patient	-	-	Canada	French-Canadian	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00368357	RP342	PubMed: Xu 2014	Olders sister affected as well	M	no	China	China	-	-	-	-	retinal disease	At the age of 19, the visual acuity was 0.1/0.1 (OD/OS). The fundus showed: attenuated retinal arteries; no foveal reflex;. ERG response of the rods was: not available and of the cones was not available.	1	1	Stéphanie Cornelis
00372629	RP042	PubMed: Xu 2014	family	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372646	RP339	PubMed: Xu 2014	family	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372651	RP382	PubMed: Xu 2014	patient	F	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372652	RP331	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372661	RP219	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372670	RP201	PubMed: Xu 2014	patient	F	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372708	RP200	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372733	RP092	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372736	RP224	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372746	RP329	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372751	RP388	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373474	RP0422	PubMed: Fernandez-San Jose 2015	family, 4 affected	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	4	LOVD
00373481	RP1903	PubMed: Fernandez-San Jose 2015	family, 3 affected	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	3	LOVD
00373838	Rp29	PubMed: Zhao 2015	simplex case	-	-	Northern Ireland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373931	OGI-274-582	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375451	Fam04	PubMed: Pan 2014	5-generation family, 10 affected (4F, 6M)	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	10	LOVD
00376175	-	PubMed: Jin 2008	-	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376764	26	PubMed: Wang 2014	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376768	30	PubMed: Wang 2014	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376770	34	PubMed: Wang 2014	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376772	36	PubMed: Wang 2014	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377203	283	Tracewska 2021, MolVis in press	proband	F	no	Poland	Slavic	-	-	yes	-	retinal disease	see paper	1	1	LOVD
00377214	310	Tracewska 2021, MolVis in press	proband	M	no	Poland	Slavic	-	-	yes	-	retinal disease	see paper	1	1	LOVD
00377274	477	Tracewska 2021, MolVis in press	proband	F	no	Poland	Slavic	-	-	yes	-	retinal disease	see paper	1	1	LOVD
00377376	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377377	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377378	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377379	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377380	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377381	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377530	EYE125	PubMed: Hosono2018	proband, family EYE125	M	no	Japan	Asian	-	-	-	-	retinal disease	see paper	1	1	LOVD
00379665	IR_GS_0050	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000006, HP:0000510	1	1	Jinu Han
00379842	2016102415	PubMed: Wang 2018	-	F	?	China	Han Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00379843	2016121222	PubMed: Wang 2018	-	M	?	China	Han Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00381036	-	PubMed: Chen-2013	-	M	-	China	Chinese	-	-	-	-	retinal disease	poor vision, nystagmus	1	1	LOVD
00381758	-	PubMed: Sullivan-2013	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382319	148	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382320	149	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382365	194	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382552	414	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382553	415	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383430	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384383	14114	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384419	14403	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385035	19522	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.1/0.07	1	1	LOVD
00386195	RPN-311	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386212	RPN-333	PubMed: Rodriguez-Munoz 2020	family fRPN-167, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386299	RP-677	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386548	001-088	PubMed: Zampaglione-2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386760	OGI2908_004493	PubMed: Zampaglione-2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387381	1	PubMed: Sun 2020	-	M	-	China	-	-	-	-	-	retinal disease	no lens opacity, no choroidal atrophy, negative family history, BCVA OD/OS: FC/FC, retinal detachment	1	1	LOVD
00388566	OFTALMO.047	PubMed: Dineiro 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	Non‐syndrom	1	1	LOVD
00389269	553	PubMed: Weisschuh 2020	Filing key number: 198, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389270	554	PubMed: Weisschuh 2020	Filing key number: 198, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389474	758	PubMed: Weisschuh 2020	Filing key number: 293, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389483	767	PubMed: Weisschuh 2020	Filing key number: 297, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389628	912	PubMed: Weisschuh 2020	Filing key number: 388, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD

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Global Variome shared LOVD

IMPDH1 (IMP (inosine 5'-monophosphate) dehydrogenase 1)