All individuals with variants in gene GBA

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.

247 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
00000012	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000023	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000048	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000058	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000059	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000060	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00080851	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	GD, perinatal lethal	Gaucher disease, perinatal lethal (OMIM:608013)	1	1	Daniel Trujillano
00218928	28195318-FamPat11/12	PubMed: Helbig 2017	2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives	F;M	no	United States	Jewish-Ashkenazi;Yemen	-	-	-	-	MRT	see paper; ...	1	1	Johan den Dunnen
00289528	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	13	Mohammed Faruq
00289529	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289530	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295439	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00295468	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00334906	PME26	PubMed: Courage 2021, Journal: Courage 2021	-	M	yes	Turkey	-	-	-	-	-	Gaucher, atypical	Onset age 8 of myoclonus. Associated with ataxia, horizontal gaze palsy, mild splenomegaly and mild intellectual disability. Progressive course, death age 19.	1	1	Carolina Courage
00414706	NA03575	PubMed: Bell 2011	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00427056	-	PubMed: Reiner 2022	carrier screening 73,755 controls	-	-	United States	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00427057	-	PubMed: Reiner 2022	carrier screening 73,755 controls	-	-	United States	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00427058	-	PubMed: Reiner 2022	carrier screening 73,755 controls	-	-	United States	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00435155	-	PubMed: Sidransky 2009	-	-	-	-	Ashkenazi Jews	-	-	-	-	PD	-	5	779	Jimena Urbano
00435156	patient	PubMed: Bossù 2023	-	F	?	Italy	-	-	-	-	ERT with intravenous imiglucerase (Cerezyme)	GD	massive splenomegaly, hepatic Gaucheroma; persistent abdominal distension during the previous 18 months; blood exams show anemia, thrombocytopenia, adequate hepato-renal function, normal hemoglobin chain analysis; physical examination, significant abdominal distension underlying massive splenomegaly (the splenic pole reached the low hypogastric region) and hepatomegaly was noted without any other significant symptom: general clinical conditions and neurological examination were in order; development and growth also appeared adequate	1	1	Jimena Urbano
00435161	patient	PubMed: Moon 2022	-	M	?	Korea, South (Republic)	Korea	-	-	-	-	PD	-	1	1	Jimena Urbano
00435163	PatII.1	PubMed: Cormand 1998	-	?	-	Spain	-	00y08m15d	-	-	-	GD2	died at 8.5m; splenomegaly, hepatomegaly, thrombocytopenia, anemia, seizures, head retroflection, hyperreflexia	1	1	Jimena Urbano
00435164	-	PubMed: Cormand 1998	Ages 27, 68, 4, 56, 58, 82	-	-	Spain	-	-	-	-	-	GD1	Splenomegaly, three asymptomatic; most very mild	1	6	Jimena Urbano
00435165	-	PubMed: Cormand 1998	Ages 32, 33, 29, 25, 19, 48, 31, 5, 24, 23, 60 and 3	?	-	Spain	-	-	-	-	-	GD1	All splenomegaly, 6 patients also hepatomegaly, 7 patients with pancytopenia, 4with bone disease, one (I.39) asymptomatic at present age of 05y	2	12	Jimena Urbano
00435166	-	PubMed: Cormand 1998	Ages 28, 42 and 13	?	-	Spain	-	-	-	-	-	GD1	I.13: splenomegaly, hepatomegaly, thrombocytopenia, cystalgia. I.30: splenomegaly, thrombocytopenia, leukopenia, chronic diarrhea, skin pigmentation. I.31:splenomegaly, hepatomegaly, thrombocytopenia, thrombocytopenia, leukopenia, stature and pubertal developmentdelayed, portal hypertension, irregularity of right humerus	4	3	Jimena Urbano
00435167	PatI.14	PubMed: Sarria 1999	-	-	-	Spain	-	-	-	-	-	GD1	-	1	1	Jimena Urbano
00435183	-	PubMed: Sidransky 2009	-	-	-	-	-	-	-	-	-	PD	-	5	1682	Jimena Urbano
00435184	-	PubMed: Cormand 1998	Ages 31 and 27	-	-	Spain	-	-	-	-	-	GD1	Both: splenomegaly, hepatomegaly, epistaxis. I.8: pancytopenia, femur deformity. I.24: thrombocytopenia	2	2	Jimena Urbano
00435185	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly	1	1	Jimena Urbano
00435186	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, macrocephaly	1	1	Jimena Urbano
00435187	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, thrombocytopenia, anemia, bone pain	2	1	Jimena Urbano
00435188	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, thrombocytopenia	2	1	Jimena Urbano
00435189	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, leukopenia, splenectomy at 9 yr	2	1	Jimena Urbano
00435190	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, epistaxis, easy bruising, femur deformity, conjunctival pingueculae	2	1	Jimena Urbano
00435191	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, femur infarcts	2	1	Jimena Urbano
00435193	-	PubMed: Cormand 1998	Affected brother (46y) with splenomegaly, hepatomegaly, thrombocytopenia, and pingueculae.	-	-	Spain	-	-	-	-	-	GD1	Atypical parkinson	2	1	Jimena Urbano
00435194	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, digestive hemorrhagia, ulcus gastroduodenal, hepatopathy, skin pigmentation, bone deformities	2	1	Jimena Urbano
00435195	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, mild pancytopenia, epistaxis, bone crisis, femur deformity, skin pigmentation	2	1	Jimena Urbano
00435196	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, anemia, bone disease	2	1	Jimena Urbano
00435197	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, pancytopenia, bone deformity, aseptic necrosis	2	1	Jimena Urbano
00435198	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	-	2	1	Jimena Urbano
00435199	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, anemia, thrombocytopenia, stature development delayed, jaundice, skin pigmentation	2	1	Jimena Urbano
00435200	-	PubMed: Cormand 1998	Affected sibling (23 y) with same symptoms plus bone disease.	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, thrombocytopenia, familial factor IX deficiency	2	1	Jimena Urbano
00435204	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, pancytopenia	2	1	Jimena Urbano
00435205	-	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly, epistaxis, pancytopenia	2	1	Jimena Urbano
00435206	PatI.22	PubMed: Cormand 1998	-	-	-	Spain	-	-	-	-	-	GD1	splenomegaly, hepatomegaly	2	1	Jimena Urbano
00440091	MSM45	PubMed: Latham 1991	-	-	-	United States	Hispanic	-	-	-	-	GD1	see paper; ..., 5y-deceased (pulmonary complication); severe visceral involvement	1	1	Johan den Dunnen
00440092	MSM48	PubMed: Latham 1991	-	-	-	United States	Italy;Ireland	-	-	-	-	GD1	see paper; ..., moderate splenomegaly	2	1	Johan den Dunnen
00440093	MSM49	PubMed: Latham 1991	-	-	-	United States	Italy	-	-	-	-	GD1	see paper; ..., severe bone disease	2	1	Johan den Dunnen
00440094	MSM50	PubMed: Latham 1991	-	-	-	United States	Greece	-	-	-	-	GD1	see paper; ..., mild splenomegaly	2	1	Johan den Dunnen
00440095	MSM53	PubMed: Latham 1991	-	-	-	United States	jew-Sephardic;jew-Ashkenazi	-	-	-	-	GD1	see paper; ..., severe splenomegaly	2	1	Johan den Dunnen
00440096	MSM82	PubMed: Latham 1991	-	-	-	United States	white	-	-	-	-	GD2	see paper; ..., classic type 2	2	1	Johan den Dunnen
00440097	MSM61	PubMed: Latham 1991	-	-	-	United States	white	-	-	-	-	GD3	see paper; ..., oculomotor apraxia	2	1	Johan den Dunnen
00440098	patient	PubMed: Uchiyama 1994	-	F	-	Japan	-	00y00m01d	-	-	-	GD2	see paper; ..., 37w-birth Caesarean section due to fetal distress; 9h-deceased; severe asphyxia, respiration did not become voluntary; autopsy hepatomegaly, no activity of glucocerebrosidase	2	1	Johan den Dunnen
00440099	Pat1	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 5	1	1	Johan den Dunnen
00440100	Pat2	PubMed: Beutler 1993	-	-	-	United States	native American	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 12	1	1	Johan den Dunnen
00440101	Pat3	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 7	2	1	Johan den Dunnen
00440102	Pat4	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 15	2	1	Johan den Dunnen
00440103	Pat5	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 9	2	1	Johan den Dunnen
00440104	Pat6	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 20	2	1	Johan den Dunnen
00440105	Pat7	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 9	2	1	Johan den Dunnen
00440106	Pat8	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 4	2	1	Johan den Dunnen
00440107	Pat9	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 12	2	1	Johan den Dunnen
00440110	PatDW	PubMed: Zimran 1990	-	F	-	United States	-	-	-	-	-	GD1	see paper; ..., 9y-splenectomy; 10y-episodic bone pain, no fractures; 21y-massive hepatomegal, mild abnormalities function tests	2	1	Johan den Dunnen
00440111	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (54 cases with genotype)	-	-	United States	jew	-	-	-	-	GD	-	1	54	Johan den Dunnen
00440112	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (25 cases with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	25	Johan den Dunnen
00440113	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (5 cases with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	5	Johan den Dunnen
00440114	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (4 cases with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	4	Johan den Dunnen
00440115	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (3 cases with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	3	Johan den Dunnen
00440116	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	1	Johan den Dunnen
00440117	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	1	Johan den Dunnen
00440118	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	1	Johan den Dunnen
00440119	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)	-	-	United States	jew	-	-	-	-	GD	-	2	1	Johan den Dunnen
00440120	-	PubMed: Beutler 1991, PubMed: Beutler 1992	analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (2 cases with genotype)	-	-	United States	jew	-	-	-	-	GD	-	1	2	Johan den Dunnen
00440121	Pat1	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ..., hepatosplenomegaly	2	1	Johan den Dunnen
00440122	Pat2	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ...,massive hepatosplenomegaly, bony involvement	2	1	Johan den Dunnen
00440123	Pat3	PubMed: Kim 1996	-	F	-	Korea	-	-	-	-	-	GD	see paper; ...,hepatosplenomegaly	1	1	Johan den Dunnen
00440124	Pat4	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ...,splenomegaly	2	1	Johan den Dunnen
00440125	Pat5	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ...,asymptomatic, mild hepatosplenomegaly	1	1	Johan den Dunnen
00440126	PatYC	PubMed: Kim 1996	family, 2 affected sibs	F	-	Taiwan	China	-	-	-	-	GD	see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease	2	2	Johan den Dunnen
00440127	PatCC	PubMed: Kim 1996	relative	M	-	Taiwan	China	-	-	-	-	GD	see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease	2	1	Johan den Dunnen
00440128	Pat1	PubMed: Beutler 1995	-	-	-	-	jew-Ashkenazi	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 7	2	1	Johan den Dunnen
00440129	Pat2	PubMed: Beutler 1995	-	-	-	-	Arab;Bedouin	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 13	2	1	Johan den Dunnen
00440130	Pat3	PubMed: Beutler 1995	-	-	-	-	Scotland;Wales	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 6	2	1	Johan den Dunnen
00440131	Pat4	PubMed: Beutler 1995	-	-	-	-	Scotland;Wales	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 14	2	1	Johan den Dunnen
00440132	Pat5	PubMed: Beutler 1995	-	-	-	-	jew-Ashkenazi	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 6	2	1	Johan den Dunnen
00440133	Pat6	PubMed: Beutler 1995	-	-	-	-	Afro-American	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 4	1	1	Johan den Dunnen
00440134	PatII2	PubMed: Eyal 1991	3-generation family, 2 affected	M	-	Israel	-	-	-	-	-	GD	see paper; ...	3	2	Johan den Dunnen
00440135	Pat14;PatBD	PubMed: Choy 1991, PubMed: Choy 1995	-	-	-	Canada	African-Amereican	-	-	-	-	GD	see paper; ...	2	1	Johan den Dunnen
00440136	Pat1	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., no splenectomy, no bone involvement, severity score 7	2	1	Johan den Dunnen
00440137	Pat2	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., no splenectomy, no bone involvement, severity score 7	2	1	Johan den Dunnen
00440138	Pat3	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., deceased, splenectomy, bone involvement	1	1	Johan den Dunnen
00440139	Pat4	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., deceased, splenectomy, bone involvement	2	1	Johan den Dunnen
00440140	Pat5	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., no splenectomy, bone involvement, severity score 11	1	1	Johan den Dunnen
00440141	Pat6	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., splenectomy, no bone involvement, severity score 15	2	1	Johan den Dunnen
00440142	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	1	37	Johan den Dunnen
00440143	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	1	14	Johan den Dunnen
00440144	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	1	5	Johan den Dunnen
00440145	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	1	3	Johan den Dunnen
00440146	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	1	3	Johan den Dunnen

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Global Variome shared LOVD

GBA (glucosidase, beta, acid)