Disease #05484 (DBA (anemia, Diamond-Blackfan (DBA)))

Official abbreviation	DBA
Name	anemia, Diamond-Blackfan (DBA)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	790
Phenotype entries for this disease	706
Associated with 9 genes	RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-10-23 16:08:11 +02:00 (CEST)
Date last edited	N/A

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

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.

790 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		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
00210727	30503522-PatDBA001	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	FAM69A, RPL5	1	1	Johan den Dunnen
00210728	30503522-PatDBA002	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210729	30503522-PatDBA003	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210730	30503522-PatDBA004	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	GATA1	GATA1	1	2	Johan den Dunnen
00210731	30503522-PatDBA005	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	GATA1	GATA1	1	2	Johan den Dunnen
00210732	30503522-PatDBA006	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210733	30503522-PatDBA007	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210734	30503522-PatDBA008	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210735	30503522-PatDBA009	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210736	30503522-PatDBA010	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210737	30503522-PatDBA011	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210738	30503522-PatDBA012	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS17	RPS17	1	1	Johan den Dunnen
00210739	30503522-PatDBA013	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210740	30503522-PatDBA014	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	2	Johan den Dunnen
00210741	30503522-PatDBA015	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	2	Johan den Dunnen
00210742	30503522-PatDBA016	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS10	RPS10, RPS10-NUDT3	1	1	Johan den Dunnen
00210743	30503522-PatDBA017	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210744	30503522-PatDBA018	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210745	30503522-PatDBA019	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210746	30503522-PatDBA020	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS17	RPS17	1	1	Johan den Dunnen
00210747	30503522-PatDBA021	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	SLC25A38	SLC25A38	1	1	Johan den Dunnen
00210748	30503522-PatDBA022	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210749	30503522-PatDBA023	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210750	30503522-PatDBA024	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210751	30503522-PatDBA025	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210752	30503522-PatDBA026	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210753	30503522-PatDBA027	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210754	30503522-PatDBA028	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210755	30503522-PatDBA029	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS24	RPS24	1	1	Johan den Dunnen
00210756	30503522-PatDBA030	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210757	30503522-PatDBA031	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210758	30503522-PatDBA032	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL34	RPL34	1	1	Johan den Dunnen
00210759	30503522-PatDBA033	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210760	30503522-PatDBA034	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS17	RPS17	1	1	Johan den Dunnen
00210761	30503522-PatDBA035	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210762	30503522-PatDBA036	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210763	30503522-PatDBA037	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210764	30503522-PatDBA038	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210765	30503522-PatDBA039	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210766	30503522-PatDBA040	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210767	30503522-PatDBA041	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210768	30503522-PatDBA042	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210769	30503522-PatDBA043	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210770	30503522-PatDBA044	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	2	Johan den Dunnen
00210771	30503522-PatDBA045	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	2	Johan den Dunnen
00210772	30503522-PatDBA046	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS10	RPS10, RPS10-NUDT3	1	1	Johan den Dunnen
00210773	30503522-PatDBA047	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210774	30503522-PatDBA048	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210775	30503522-PatDBA049	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210776	30503522-PatDBA050	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210777	30503522-PatDBA051	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210778	30503522-PatDBA052	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210779	30503522-PatDBA053	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210780	30503522-PatDBA054	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPL35, RPS19	RPL35, RPS19	2	2	Johan den Dunnen
00210781	30503522-PatDBA055	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPL35, RPS19	RPL35, RPS19	2	2	Johan den Dunnen
00210782	30503522-PatDBA056	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS24	RPS24	1	1	Johan den Dunnen
00210783	30503522-PatDBA057	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210784	30503522-PatDBA058	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210785	30503522-PatDBA059	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210786	30503522-PatDBA060	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS10	RPS10, RPS10-NUDT3	1	1	Johan den Dunnen
00210787	30503522-PatDBA061	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210788	30503522-PatDBA062	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS17	RPS17	1	1	Johan den Dunnen
00210789	30503522-PatDBA063	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS24	RPS24	1	1	Johan den Dunnen
00210790	30503522-PatDBA064	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210791	30503522-PatDBA065	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210792	30503522-PatDBA066	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	2	Johan den Dunnen
00210793	30503522-PatDBA067	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPL5, RPS19	RPL5, RPS19	2	2	Johan den Dunnen
00210794	30503522-PatDBA068	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210795	30503522-PatDBA069	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210796	30503522-PatDBA070	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210797	30503522-PatDBA071	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210798	30503522-PatDBA072	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210799	30503522-PatDBA073	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210800	30503522-PatDBA074	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210801	30503522-PatDBA075	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210802	30503522-PatDBA076	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210803	30503522-PatDBA077	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210804	30503522-PatDBA078	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	2	Johan den Dunnen
00210805	30503522-PatDBA079	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	2	Johan den Dunnen
00210806	30503522-PatDBA080	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL5	RPL5	1	1	Johan den Dunnen
00210807	30503522-PatDBA081	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS17	RPS17	1	1	Johan den Dunnen
00210808	30503522-PatDBA082	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210809	30503522-PatDBA083	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210810	30503522-PatDBA084	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210811	30503522-PatDBA085	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210812	30503522-PatDBA086	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210813	30503522-PatDBA087	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS17	RPS17	1	1	Johan den Dunnen
00210814	30503522-PatDBA088	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210815	30503522-PatDBA089	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210816	30503522-PatDBA090	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210817	30503522-PatDBA091	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210818	30503522-PatDBA092	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210819	30503522-PatDBA093	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL11	RPL11	1	1	Johan den Dunnen
00210820	30503522-PatDBA094	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210821	30503522-PatDBA095	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS26	RPS26	1	1	Johan den Dunnen
00210822	30503522-PatDBA096	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210823	30503522-PatDBA097	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210824	30503522-PatDBA098	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210825	30503522-PatDBA099	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPS19	RPS19	1	1	Johan den Dunnen
00210826	30503522-PatDBA100	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	RPL10A, RPL19	CHRNB1, RPL10A, RPL19	2	1	Johan den Dunnen

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

Global Variome shared LOVD