All individuals with variants in gene ITGB3

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.

147 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00291771	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304588	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00358957	Case71918	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358972	Case70559	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00451682	Pat1	PubMed: Li 2024, Journal: Li 2024	older brother	F	no	China	Asian	05y	-	-	-	GT2;BDPLT23	see paper; ..., died 5y-oral cavity/nasal hemorrhage	1	1	Zhenjiang Li
00451684	Pat2	PubMed: Li 2024, Journal: Li 2024	5-generation family, 2 affected (1F, 1M), unaffected heterozygous carrier parents/relatives	F;M	yes	China	Asia	05y	-	-	-	GT2;BDPLT23	Easy bleeding (HP:0011889), Subcutaneous hemorrhage (HP:0001933), Epistaxis (HP:0000421), Gingival bleeding(HP:0000225), Oral cavity bleeding (HP:0030140), Menorrhagia (HP:0000132); brother died 5y-oral cavity/nasal hemorrhage	1	2	Zhenjiang Li
00470752	PatET	PubMed: Bajt 1992	-	-	-	United States	-	-	-	-	-	GT2;BDPLT23	see paper; ...	1	1	Johan den Dunnen
00470754	PatMS	PubMed: Lanza 1992	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	France	-	-	-	-	-	GT2;BDPLT23	see paper; ...	1	1	Johan den Dunnen
00470755	family	PubMed: Loftus 1990	family, 2 affected sibs	-	-	United States	-	-	-	-	-	GT2;BDPLT23	see paper; ...	1	2	Johan den Dunnen
00470756	PatP	PubMed: Chen 1992	-	-	-	United States	-	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long bleeding tendency, failure of platelets to aggregate and bind fibrinogen in response to agonists such as ADP, collagen, or thrombin	1	1	Johan den Dunnen
00470757	Pen(b)	PubMed: Wang 1992	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00470760	Pl(A2)	PubMed: Newman 1989	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00470761	Sra	PubMed: Kuipers 1993, PubMed: Kroll 1990	-	-	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00470762	patient	PubMed: Simsek 1993	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Netherlands	-	-	-	-	-	GT2;BDPLT23	see paper; ..., childhood severe hemorrhagic diathesis, epistaxis, gingival bleeding, menorrhagia, (regular transfusions whole blood and/or platelets	2	1	Johan den Dunnen
00470763	FamPatIII2	PubMed: McFarland 1993, PubMed: Wang 1993	3-generation family, 1 affected, unaffectedheterozygous carrier father	M	-	Canada	Fillipines	-	-	-	-	FMAIT	see paper; ..., neonatal alloimmune thrombocytopenia	1	1	Johan den Dunnen
00470764	control	PubMed: Wang 1993	-	-	-	Canada	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00470765	TU-PatC	PubMed: Wang 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00470766	TU-PatD	PubMed: Wang 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00470767	control	PubMed: Wang 1993	-	-	-	-	jew;Kurdistan	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00470768	patient	PubMed: Grimaldi 1996	-	F	yes	China	-	-	-	-	-	GT2;BDPLT23	see paper; ..., lifelong epistaxis, gum bleeding, petechias, purpura; severe monorrhagia, anemia, need for whole-blood transfusion; normal coagulation assays; prolonged bleeding time; absent clot retraction; decreased glass bead retention; absent platelet aggregation in response to adenine diphosphate/pinephrine/collagen; normal initial slope of platelet aggregation in response to ristocetin, but with a diminished maximal extent.	1	1	Johan den Dunnen
00470769	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470770	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470771	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470772	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470773	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470774	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470778	FamPatII2	PubMed: Rosenberg 1997	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	1	1	Johan den Dunnen
00470779	family	PubMed: Rosenberg 1997	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	1	1	Johan den Dunnen
00470780	family	PubMed: Rosenberg 1997	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	1	1	Johan den Dunnen
00470781	PatRM	PubMed: Wang 1997	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	United States	African-American	-	-	-	-	GT2;BDPLT23	see paper; ..., normal platelet counts, severe bleeding since birth	2	1	Johan den Dunnen
00470782	patient	PubMed: Ferrer 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Spain	white	-	-	-	-	GT2;BDPLT23	see paper; ..., from birth mucocutaneous bleeding episodes, unprovoked bruising, copious menstrual hemorrhages	1	1	Johan den Dunnen
00470796	GT03	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470797	GT04	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	2	1	Johan den Dunnen
00470798	GT07	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470799	GT08	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470800	GT09	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	2	1	Johan den Dunnen
00470801	GT11	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470802	GT16	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470803	GT17	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470804	GT20	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	2	1	Johan den Dunnen
00470805	GT21	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470806	GT25	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470807	GT32	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470808	GT33	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470809	GT34	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470810	GT39	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470811	GT40	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470812	GT42	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470813	GT48	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470814	GT50	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470815	GT53	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470816	GT55	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470817	GT60-1	PubMed: Peretz 2006	family, 2 affected sibs	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	2	Johan den Dunnen
00470818	GT60-2	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470819	GT64	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	1	1	Johan den Dunnen
00470820	MR	PubMed: D'Andrea 2002	patient	M	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	1	1	Johan den Dunnen
00470821	SM	PubMed: D'Andrea 2002	patient	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., mild	2	1	Johan den Dunnen
00470822	LPR	PubMed: D'Andrea 2002	patient	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	2	1	Johan den Dunnen
00470823	GI	PubMed: D'Andrea 2002	patient	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., mild	1	1	Johan den Dunnen
00470824	DOM	PubMed: D'Andrea 2002	patient	M	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., mild	1	1	Johan den Dunnen
00470825	CI	PubMed: D'Andrea 2002	family, 3 affected	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	1	3	Johan den Dunnen
00470826	CD	PubMed: D'Andrea 2002	twin brother	M	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	1	1	Johan den Dunnen
00470827	CG	PubMed: D'Andrea 2002	sib	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., severe	1	1	Johan den Dunnen
00470846	RS	PubMed: Jin 1996	2-generation family, 1 affected, unaffected mother	F	-	United States	African-American	-	-	-	-	GT2;BDPLT23	see paper; ..., lifelong bleeding history, primarily nasal/gingival mucosa, menses	1	1	Johan den Dunnen
00470847	control	PubMed: Zimrin 1990	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00470848	control	PubMed: Zimrin 1990	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00470849	control	PubMed: Zimrin 1990	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00470868	CabGT-19	PubMed: Jallu 2010	patient	-	-	France	-	-	-	-	-	GT	-	1	1	Johan den Dunnen
00470869	CabGT-20	PubMed: Jallu 2010	patient	-	-	France	Africa-N	-	-	-	-	GT	-	1	1	Johan den Dunnen
00470870	CabGT-21	PubMed: Jallu 2010	patient	-	-	France	-	-	-	-	-	GT	-	1	1	Johan den Dunnen
00470871	CabGT-22	PubMed: Jallu 2010	patient	-	-	South Africa	-	-	-	-	-	GT	-	1	1	Johan den Dunnen
00470872	CabGT-23	PubMed: Jallu 2010	patient	-	-	France	-	-	-	-	-	GT	-	1	1	Johan den Dunnen
00470873	CabGT-24	PubMed: Jallu 2010	patient	-	-	France	Africa-N	-	-	-	-	GT	-	2	1	Johan den Dunnen
00470874	CabGT-25	PubMed: Jallu 2010	patient	-	-	France	-	-	-	-	-	GT	-	1	1	Johan den Dunnen
00470875	CabGT-26	PubMed: Jallu 2010	patient	-	-	France	Africa-N	-	-	-	-	GT	-	2	1	Johan den Dunnen
00470876	RM;GT9	PubMed: Nurden 2002, PubMed: Nurden 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	France	-	-	-	-	-	GT	see paper; ..., lifelong mucocutaneous bleeding history	2	1	Johan den Dunnen
00470878	Fam1	PubMed: Vinciguerra 1995, PubMed: Negrier 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	France	-	-	-	-	-	GT	see paper; ...	1	1	Johan den Dunnen
00470880	Pat3	PubMed: Negrier 1998	2-generation family, 2 affected, unaffected parents	-	-	France	-	-	-	-	-	GT	see paper; ..., bleeding	1	2	Johan den Dunnen
00470902	family	PubMed: Ghevaert 2008	4-generation family, 5 affected (5F)	F	-	United Kingdom (Great Britain)	-	-	-	-	-	BDPLT	see paper; ..., mild thrombocytopenia, platelet anisocytosis, giant platelets	1	5	Johan den Dunnen
00470903	FamA	PubMed: Gresele 2009	5-generation family, 18 affected (12F, 6M)	F	-	Italy	-	-	-	-	-	BDPLT	see paper; ..., moderate thrombocytopenia, large platelets, defective platelet function, moderate-severe mucocutaneous bleeding	1	18	Johan den Dunnen
00470904	Fam2	PubMed: Gresele 2009	2-generation family, affected mother/daughter	F	-	Italy	-	-	-	-	-	BDPLT	see paper; ..., moderate thrombocytopenia, large platelets, defective platelet function, moderate-severe mucocutaneous bleeding	1	2	Johan den Dunnen
00470905	patient	PubMed: Jayo 2010	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Spain	-	-	-	-	-	BDPLT	see paper; ..., severe bleeding phenotype, defective platelet aggregation/adhesion	2	1	Johan den Dunnen
00470906	family	PubMed: Kobayashi 2013	4-generation family, 10 affected (6F, 4M)	F;M	-	Japan	-	-	-	-	-	BDPLT	see paper; ..., thrombocytopenia, anisocytosis	1	10	Johan den Dunnen
00470910	PatIII1	PubMed: Sachs 2012	3-generation family, 1 affected, unaffected heterozygous carrier father	M	-	Germany	-	-	-	-	-	FMAIT	see paper; ..., birth-39w, facial petechiae, cephalic haematoma, no intracranial bleeding; pregnancy dalteparin treatment (previous miscarriages 10w, 21w)	1	1	Johan den Dunnen
00470911	Pat1(Sta)	PubMed: Peterson 2010	2-generation family, 1 affected, unaffected heterozygous carrier father	-	-	United States	-	-	-	-	-	FMAIT	see paper; ..., birth-36w ceasarean section (fetal distress during labor), scattered petechial hemorrhages	1	1	Johan den Dunnen
00470912	Pat3(Nos)	PubMed: Peterson 2010	2-generation family, 1 affected, unaffected heterozygous carrier father	-	-	United States	-	-	-	-	-	FMAIT	see paper; ..., birth scattered petechial hemorrhages, PLT count 14×10+9/L	1	1	Johan den Dunnen
00470914	patient	PubMed: Sullivan 2017	-	-	-	United States	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470915	patient	PubMed: Holzwarth 2020	-	F	-	Germany	-	-	-	-	-	FMAIT	see paper; ...	1	1	Johan den Dunnen
00470916	patient	PubMed: Simsek 1994	3-generation family, 1 affected, unaffected heterozygous carrier father	M	-	Netherlands	-	-	-	-	-	FMAIT	see paper; ...	3	1	Johan den Dunnen
00470917	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470918	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470919	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470920	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470921	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470922	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470923	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	1	1	Johan den Dunnen
00470944	GT1	PubMed: Nurden 2015	patient, no affected relatives	M	yes	France	Africa	-	-	-	-	GT	significant bruising, persistant bleeding after surgery, major episodes of epistaxis, gingivorragia, tonsillar haemorrhage; absent platelet aggregation; WHO4 bleeding score 3	1	1	Johan den Dunnen
00470945	GT3	PubMed: Nurden 2015	patient, no affected relatives	F	-	France	-	-	-	-	-	GT	sometimes severe with hospitalisation. epistaxis, ecchymoses, purpura since birth, gastrointestinal bleeding, excessive menstrual bleeding; absent platelet aggregation; WHO4 bleeding score 4	3	1	Johan den Dunnen
00470947	GT5	PubMed: Nurden 2015	2-generation family, 2 affected brothers	M	no	France	-	-	-	-	-	GT	epistaxis, easy bruising, post-traumatic bleeding, subarachnoid hemorrhage; absent platelet aggregation; WHO4 bleeding score 2	2	2	Johan den Dunnen
00470948	GT6	PubMed: Nurden 2015	patient, no affected relatives	F	yes	France;Algeria	-	-	-	-	-	GT	easy bruising, gingivorragia. severe bleeding syndrome; absent platelet aggregation; WHO4 bleeding score 4	1	1	Johan den Dunnen

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Global Variome shared LOVD

ITGB3 (integrin, beta 3 (platelet glycoprotein III...))