Disease #02115 (USH1 (Usher syndrome, type I (USH-1)))

Official abbreviation	USH1
Name	Usher syndrome, type I (USH-1)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	644
Phenotype entries for this disease	645
Associated with 5 genes	CDH23, MYO7A, PCDH15, USH1C, USH1G
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-11 13:56:28 +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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644 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		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
00080830	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	USH1	Usher syndrome, type 1B (OMIM:276900)	MYO7A	MYO7A	1	1	Daniel Trujillano
00080904	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	USH1	Usher syndrome, type 1B (OMIM:276900)	MYO7A	MYO7A	1	1	Daniel Trujillano
00155406	-	Sharon, submitted	-	F	yes	Israel	Iran;Jewish	-	-	-	-	USH1	-	CEP250	CEP250	1	6	Dror Sharon
00155497	-	Sharon, submitted	-	F	yes	Israel	Morocco;Jewish	-	-	-	-	USH1	-	MYO7A	MYO7A	1	1	Dror Sharon
00155498	-	Sharon, submitted	-	M	no	Israel	Morocco;Jewish	-	-	-	-	USH1	-	MYO7A	MYO7A	2	1	Dror Sharon
00155499	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	USH1	-	MYO7A	MYO7A	1	3	Dror Sharon
00155500	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	USH1	-	MYO7A	MYO7A	1	1	Dror Sharon
00155501	-	Sharon, submitted	-	F	no	Israel	Arab-Muslim	-	-	-	-	USH1	-	MYO7A	MYO7A	1	2	Dror Sharon
00155502	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	USH1	-	MYO7A	MYO7A	1	3	Dror Sharon
00155503	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	USH1	-	MYO7A	MYO7A	1	3	Dror Sharon
00155504	-	Sharon, submitted	-	F	yes	Israel	Samaritans	-	-	-	-	USH1	-	MYO7A	MYO7A	1	1	Dror Sharon
00155505	-	Sharon, submitted	-	F	yes	Israel	African-N;Jewish	-	-	-	-	USH1	-	MYO7A	MYO7A	1	2	Dror Sharon
00155516	-	Sharon, submitted	-	F	no	Israel	Jewish-Ashkenazi	-	-	-	-	USH1	-	PCDH15	PCDH15	1	1	Dror Sharon
00155562	-	Sharon, submitted	-	F	yes	Israel	Druze	-	-	-	-	USH1	-	USH2A	USH2A	1	3	Dror Sharon
00155563	-	Sharon, submitted	-	M	yes	Israel	Jewish-Oriental	-	-	-	-	USH1	-	USH2A	USH2A	1	1	Dror Sharon
00155565	-	Sharon, submitted	-	F	no	Israel	Jewish-Oriental	-	-	-	-	USH1	-	USH2A	USH2A	2	3	Dror Sharon
00155573	-	Sharon, submitted	-	F	no	Israel	Jewish-Oriental	-	-	-	-	USH1	-	USH2A	USH2A	2	2	Dror Sharon
00155574	-	Sharon, submitted	-	F	yes	Israel	African-N;Jewish	-	-	-	-	USH1	-	USH2A	USH2A	1	4	Dror Sharon
00155577	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	USH1	-	USH2A	USH2A	1	4	Dror Sharon
00155579	-	Sharon, submitted	-	M	yes	Israel	Arab Christian	-	-	-	-	USH1	-	USH2A	USH2A	1	1	Dror Sharon
00155581	-	Sharon, submitted	-	M	no	Israel	Jewish	-	-	-	-	USH1	-	USH2A	USH2A	2	1	Dror Sharon
00155582	-	Sharon, submitted	-	F	yes	Israel	Yemenite;Jewish	-	-	-	-	USH1	-	USH2A	USH2A	2	2	Dror Sharon
00155583	-	Sharon, submitted	-	M	no	Israel	African-N;Jewish	-	-	-	-	USH1	-	USH2A	USH2A	1	1	Dror Sharon
00155585	-	Sharon, submitted	-	F	yes	Israel	Jewish-Oriental	-	-	-	-	USH1	-	USH2A	USH2A	1	2	Dror Sharon
00155587	-	Sharon, submitted	-	F	no	Israel	Morocco;Jewish	-	-	-	-	USH1	-	USH2A	USH2A	1	4	Dror Sharon
00155588	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	USH1	-	USH2A	USH2A	1	3	Dror Sharon
00155589	-	Sharon, submitted	-	F	yes	Israel	Jewish-Oriental	-	-	-	-	USH1	-	USH2A	USH2A	1	2	Dror Sharon
00163040	-	PubMed: Rong et al., 2014	Proband	F	-	China	-	-	-	-	-	USH1	-	PDZD7	PDZD7	1	1	Anne-Françoise Roux
00163041	-	PubMed: Rong et al., 2014	Proband	M	-	China	-	-	-	-	-	USH1	-	PDZD7	PDZD7	1	1	Anne-Françoise Roux
00163042	-	PubMed: Besnard, Garcia-Garcia et al., 2014	Proband	F	-	France	-	-	-	-	-	USH1	-	PDZD7	PDZD7	1	1	Anne-Françoise Roux
00163043	-	PubMed: Besnard, Garcia-Garcia et al., 2014	Proband	F	-	France	-	-	-	-	-	USH1	-	PDZD7	PDZD7	1	1	Anne-Françoise Roux
00163126	-	PubMed: Bonnet et al., 2016	-	M	-	Italy	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Crystel Bonnet
00163127	-	PubMed: Yoshimura et al., 2014	proband	-	-	Japan	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163128	-	PubMed: Bonnet et al., 2011	proband	-	-	-	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163131	-	PubMed: Bonnet et al., 2011	proband	-	-	-	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163132	-	PubMed: Ouyang et al., 2005	proband	-	-	United States	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163133	-	PubMed: Ouyang et al., 2005	proband	-	-	United States	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163134	-	PubMed: Bonnet et al., 2011	proband	-	-	-	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163135	-	PubMed: Bujakowska et al., 2014	proband	M	-	United States	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163136	-	PubMed: Bujakowska et al., 2014	relative	M	-	United States	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163137	-	PubMed: Bujakowska et al., 2014	relative	F	-	United States	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163138	-	PubMed: Bonnet et al., 2016	-	M	-	France	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Crystel Bonnet
00163139	-	PubMed: Weil et al., 2003	proband	M	-	Germany	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Anne-Françoise Roux
00163140	-	PubMed: Weil et al., 2003	relative	M	-	Germany	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Anne-Françoise Roux
00163141	-	PubMed: Krawitz et al., 2014	proband	F	-	Germany	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Peter Krawitz
00163148	-	PubMed: Rizel et al., 2012	proband	M	-	Israel	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163150	-	PubMed: Bonnet et al., 2016	-	M	-	Germany	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Crystel Bonnet
00163151	-	PubMed: Jaijo et al., 2010	proband	-	-	Spain	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Jose Maria Millan
00163152	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Maria Bitner-Glindzicz
00163153	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163154	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163155	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163156	-	PubMed: Weil et al., 2003	relative	M	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163157	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163158	-	PubMed: Weil et al., 2003	proband	M	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163159	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163160	-	PubMed: Weil et al., 2003	relative	M	-	Tunisia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163161	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Maria Bitner-Glindzicz
00163165	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Maria Bitner-Glindzicz
00163167	-	PubMed: Imtiaz et al., 2012	proband	F	-	Saudi Arabia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163168	-	PubMed: Imtiaz et al., 2012	relative	M	-	Saudi Arabia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163169	-	PubMed: Imtiaz et al., 2012	relative	F	-	Saudi Arabia	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163170	-	PubMed: Bonnet et al., 2016	-	-	-	France	-	-	-	-	-	USH1	-	USH1G	USH1G	2	1	Crystel Bonnet
00163172	-	PubMed: Aparisi et al., 2014	proband	-	-	Spain	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163173	-	PubMed: Weil et al., 2003	proband	-	-	Jordan	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163174	-	PubMed: Weil et al., 2003	relative	-	-	Jordan	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163175	-	PubMed: Weil et al., 2003	relative	-	-	Jordan	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163177	-	PubMed: Abdi 2016	proband	F	-	Algeria	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Crystel Bonnet
00163179	-	PubMed: Lenarduzzi et al., 2015	proband	-	-	Italy	-	-	-	-	-	USH1	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163280	-	PubMed: Rong et al., 2014	proband	M	-	China	-	-	-	-	-	USH1	-	DFNB31	DFNB31	5	1	Anne-Françoise Roux
00163286	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Maria Bitner-Glindzicz
00163287	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Maria Bitner-Glindzicz
00163289	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	DFNB31	DFNB31	2	1	Maria Bitner-Glindzicz
00163290	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Maria Bitner-Glindzicz
00163298	-	PubMed: Bujakowska et al., 2014	proband	-	-	United States	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Anne-Françoise Roux
00163304	-	PubMed: Bujakowska et al., 2014	proband	-	-	United States	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Anne-Françoise Roux
00163312	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Maria Bitner-Glindzicz
00163326	-	PubMed: Rong et al., 2014	proband	F	-	China	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Anne-Françoise Roux
00163336	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Maria Bitner-Glindzicz
00163337	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Maria Bitner-Glindzicz
00163343	-	PubMed: Glöcke et al., 2013	proband	-	-	-	-	-	-	-	-	USH1	-	DFNB31	DFNB31	1	1	Anne-Françoise Roux
00163527	-	PubMed: Besnard, Garcia-Garcia et al., 2014	proband	F	-	France	-	-	-	-	-	USH1	-	MYO15A	MYO15A	2	1	Anne-Françoise Roux
00163533	-	PubMed: Besnard, Garcia-Garcia et al., 2014	proband	M	-	-	-	-	-	-	-	USH1	-	MYO15A	MYO15A	2	1	Anne-Françoise Roux
00163645	-	-	proband	F	-	France	-	-	-	-	-	USH1	-	MYO15A	MYO15A	1	1	Anne-Françoise Roux
00165703	-	PubMed: Aparisi 2014	Proband	M	-	Spain	-	-	-	-	-	USH1	-	-	CDH23, MYO7A	13	1	Jose Maria Millan
00165704	-	-	Proband	M	-	France	-	-	-	-	-	USH1	-	-	CDH23	1	1	Anne-Françoise Roux
00165707	-	PubMed: Bolz 2001	Proband	M	-	Cuba	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165708	-	PubMed: Bolz 2001	Relative	F	-	Cuba	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165709	-	PubMed: Bolz 2001	Proband	M	-	Cuba	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165710	-	PubMed: Bolz 2001	Relative	M	-	Cuba	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165711	-	PubMed: Bolz 2001	Relative	F	-	Cuba	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165712	-	PubMed: Bolz 2001	Proband	M	-	Germany	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165713	-	PubMed: von Brederlow 2002	Proband	M	-	-	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165714	-	PubMed: von Brederlow 2002	Relative	M	-	-	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165715	-	PubMed: von Brederlow 2002	Relative	M	-	-	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165716	-	PubMed: von Brederlow 2002	Proband	M	-	-	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165717	-	PubMed: von Brederlow 2002	Relative	M	-	-	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165718	-	PubMed: von Brederlow 2002	Proband	F	-	-	-	-	-	-	-	USH1	-	-	CDH23	2	1	Anne-Françoise Roux
00165719	-	PubMed: von Brederlow 2002	Proband	F	-	-	-	-	-	-	-	USH1	-	-	CDH23	1	1	Anne-Françoise Roux
00165720	-	PubMed: von Brederlow 2002	Proband	-	-	-	-	-	-	-	-	USH1	-	-	CDH23	1	1	Anne-Françoise Roux

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Global Variome shared LOVD

PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase,...)