Disease #07013 (GD (Gaucher disease))

Official abbreviation	GD
Name	Gaucher disease
OMIM ID	-
Inheritance	-
Individuals reported having this disease	192
Phenotype entries for this disease	190
Associated with 1 gene	GBA
Associated tissues	-
Disease features	-
Remarks	-
Date created	2023-06-13 22:25:23 +02:00 (CEST)
Date last edited	N/A

Individuals

Legend

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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.

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

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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
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	GBA	GBA	1	1	Jimena Urbano
00440099	Pat1	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 5	GBA	GBA	1	1	Johan den Dunnen
00440100	Pat2	PubMed: Beutler 1993	-	-	-	United States	native American	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 12	GBA	GBA	1	1	Johan den Dunnen
00440101	Pat3	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 7	GBA	GBA	2	1	Johan den Dunnen
00440102	Pat4	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 15	GBA	GBA	2	1	Johan den Dunnen
00440103	Pat5	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 9	GBA	GBA	2	1	Johan den Dunnen
00440104	Pat6	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 20	GBA	GBA	2	1	Johan den Dunnen
00440105	Pat7	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 9	GBA	GBA	2	1	Johan den Dunnen
00440106	Pat8	PubMed: Beutler 1993	-	-	-	United States	jew	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 4	GBA	GBA	2	1	Johan den Dunnen
00440107	Pat9	PubMed: Beutler 1993	-	-	-	United States	white;Europe	-	-	-	-	GD	see paper; ..., no neurologic findings, severity score 12	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	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	-	GBA	GBA	1	2	Johan den Dunnen
00440121	Pat1	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ..., hepatosplenomegaly	GBA	GBA	2	1	Johan den Dunnen
00440122	Pat2	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ...,massive hepatosplenomegaly, bony involvement	GBA	GBA	2	1	Johan den Dunnen
00440123	Pat3	PubMed: Kim 1996	-	F	-	Korea	-	-	-	-	-	GD	see paper; ...,hepatosplenomegaly	GBA	GBA	1	1	Johan den Dunnen
00440124	Pat4	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ...,splenomegaly	GBA	GBA	2	1	Johan den Dunnen
00440125	Pat5	PubMed: Kim 1996	-	M	-	Korea	-	-	-	-	-	GD	see paper; ...,asymptomatic, mild hepatosplenomegaly	GBA	GBA	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	GBA	GBA	2	2	Johan den Dunnen
00440127	PatCC	PubMed: Kim 1996	relative	M	-	Taiwan	China	-	-	-	-	GD	see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease	GBA	GBA	2	1	Johan den Dunnen
00440128	Pat1	PubMed: Beutler 1995	-	-	-	-	jew-Ashkenazi	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 7	GBA	GBA	2	1	Johan den Dunnen
00440129	Pat2	PubMed: Beutler 1995	-	-	-	-	Arab;Bedouin	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 13	GBA	GBA	2	1	Johan den Dunnen
00440130	Pat3	PubMed: Beutler 1995	-	-	-	-	Scotland;Wales	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 6	GBA	GBA	2	1	Johan den Dunnen
00440131	Pat4	PubMed: Beutler 1995	-	-	-	-	Scotland;Wales	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 14	GBA	GBA	2	1	Johan den Dunnen
00440132	Pat5	PubMed: Beutler 1995	-	-	-	-	jew-Ashkenazi	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 6	GBA	GBA	2	1	Johan den Dunnen
00440133	Pat6	PubMed: Beutler 1995	-	-	-	-	Afro-American	-	-	-	-	GD	see paper; ..., no neurologic signs, severity score 4	GBA	GBA	1	1	Johan den Dunnen
00440134	PatII2	PubMed: Eyal 1991	3-generation family, 2 affected	M	-	Israel	-	-	-	-	-	GD	see paper; ...	GBA	GBA	3	2	Johan den Dunnen
00440135	Pat14;PatBD	PubMed: Choy 1991, PubMed: Choy 1995	-	-	-	Canada	African-Amereican	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440136	Pat1	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., no splenectomy, no bone involvement, severity score 7	GBA	GBA	2	1	Johan den Dunnen
00440137	Pat2	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., no splenectomy, no bone involvement, severity score 7	GBA	GBA	2	1	Johan den Dunnen
00440138	Pat3	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., deceased, splenectomy, bone involvement	GBA	GBA	1	1	Johan den Dunnen
00440139	Pat4	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., deceased, splenectomy, bone involvement	GBA	GBA	2	1	Johan den Dunnen
00440140	Pat5	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., no splenectomy, bone involvement, severity score 11	GBA	GBA	1	1	Johan den Dunnen
00440141	Pat6	PubMed: Ida 1997	-	-	-	Japan	-	-	-	-	-	GD	see paper; ..., splenectomy, no bone involvement, severity score 15	GBA	GBA	2	1	Johan den Dunnen
00440142	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	37	Johan den Dunnen
00440143	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	14	Johan den Dunnen
00440144	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	5	Johan den Dunnen
00440145	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	3	Johan den Dunnen
00440146	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	3	Johan den Dunnen
00440147	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440148	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440149	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440150	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440151	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440152	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440153	-	PubMed: Ida 1997	analysis 47 cases Gaucher disease	-	-	Japan	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440154	patient	PubMed: Kawame 1991	-	F	-	Japan	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440155	patient	PubMed: Beutler 1990	-	-	-	United States	-	-	-	-	-	GD	see paper; ...	GBA	GBA	1	1	Johan den Dunnen
00440156	Pat1	PubMed: Walley 1995	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440157	Pat2	PubMed: Walley 1995	-	M	-	United Kingdom (Great Britain)	Jew-Ashkenazi	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440158	Pat3	PubMed: Walley 1995	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440159	PatTH	PubMed: He 1992	2-generation family, affected brother/sister, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	2	Johan den Dunnen
00440160	PatAP	PubMed: He 1992	2-generation family, 1 affected, unaffected parents	F	-	United States	England;Germany	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440161	GM2627	PubMed: Eyal 1990	-	-	-	Israel	-	-	-	-	-	GD	-	GBA	GBA	2	1	Johan den Dunnen
00440162	GM4394	PubMed: Eyal 1990, PubMed: Hong 1990	-	-	-	Israel	-	-	-	-	-	GD	-	GBA	GBA	4	1	Johan den Dunnen
00440163	GM1607	PubMed: Eyal 1990	-	-	-	Israel	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440164	IS52	PubMed: Eyal 1990	-	-	-	Israel	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440165	Pat1	PubMed: Beutler 1994	-	-	-	United States	-	-	-	-	-	GD	see paper; ... severe GD1	GBA	GBA	2	1	Johan den Dunnen
00440166	Pat2	PubMed: Beutler 1994	-	-	-	United States	jew	-	-	-	-	GD	see paper; ... severe GD1	GBA	GBA	2	1	Johan den Dunnen
00440167	Pat3	PubMed: Beutler 1994	-	-	-	United States	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440168	Pat4	PubMed: Beutler 1994	aborted fetus	-	-	United States	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440169	Pat16	PubMed: Kawame 1992	-	-	-	Japan	-	-	-	-	-	GD	see paper; ...	GBA	GBA	1	1	Johan den Dunnen
00440170	patient	PubMed: Tsuji 1988	2-generation family, 2 affected brothers, unaffected heterozygous parents/relatives	M	-	United States	jew	-	-	-	-	GD	see paper; ...	GBA	GBA	1	2	Johan den Dunnen
00440171	PatSB	PubMed: Laubscher 1994	-	-	-	United States	-	-	-	-	-	GD	see pper; ...	GBA	GBA	2	1	Johan den Dunnen
00440172	family	PubMed: Walley 1993	2-generation family, affected twins and terminated pregnancy, unaffected heterozygous parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	GD	see paper; affected twins deceased 2d/5m	GBA	GBA	2	3	Johan den Dunnen
00440173	Pat52	PubMed: Theophilus 1989	-	-	-	United States	jew-Ashkenazi	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440174	Pat41	PubMed: Theophilus 1989	-	-	-	United States	Greece	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440175	Pat44	PubMed: Theophilus 1989	-	-	-	United States	SouthAfrican	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440176	Pat61	PubMed: Theophilus 1989	-	-	-	United States	white	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440177	Pat74	PubMed: Theophilus 1989, PubMed: Latham 1990	-	-	-	United States	jew-Ashkenazi;Ireland	-	-	-	-	GD	see paper; ...	GBA	GBA	5	1	Johan den Dunnen
00440178	Pat1	PubMed: Amaral 1996	-	F	-	Portugal	-	-	-	-	-	GD	see paper; ..., mild hepatosplenomegaly, cytopenia, bone involvement	GBA	GBA	2	1	Johan den Dunnen
00440179	Pat2	PubMed: Amaral 1996	-	M	-	Portugal	-	-	-	-	-	GD	see paper; ..., mild hepatomegaly, cytopenia; 40y-splenectomy	GBA	GBA	1	1	Johan den Dunnen
00440180	Pat3	PubMed: Amaral 1996	-	M	-	Portugal	-	-	-	-	-	GD	see paper; ..., 8y-splenectomy; 41y-severe bone involvement, chronic bone pain,massive hepatomegaly	GBA	GBA	1	1	Johan den Dunnen
00440181	patient	PubMed: Seeman 1996	2-generation family, 1 affected, unaffected heterozygous parents	M	-	Germany	-	-	-	-	-	GD	see paper; ..., neuronopathic; hepatosplenomegaly, thrombocytopenia, leukopenia, abdominal pain over area spleen, fatigue, myoclonic epilepsy, and intellectual deterioration since childhood	GBA	GBA	2	1	Johan den Dunnen
00440182	GM1260	PubMed: Wigderson 1989	-	-	-	-	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440183	patient	PubMed: Choy 1994	-	F	-	Cambodia	France;Finland;Ukraine	-	-	-	-	GD	see paper; ..., 6y6m-splenomegaly, no bone pain, no neurological symptoms; 13y-6m-hypersplenism, left flank pain, spleen large and hard, filling whole left abdomen, splenectomy	GBA	GBA	4	1	Johan den Dunnen
00440184	patient	PubMed: Tuteja 1994	-	-	-	Italy	Sardinia	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440185	PatMJ	PubMed: Beutler 1992	-	F	-	United States	-	-	-	-	-	GD	see paper; ..., moderately severe	GBA	GBA	13	1	Johan den Dunnen
00440186	FamPatIII1	PubMed: Tsuji 1987	2-generation family, 1 affected, unaffected heterozygous parents/relatives	M	-	United States	-	-	-	-	-	GD	see paper; ..., acute neuronopathic	GBA	GBA	1	1	Johan den Dunnen
00440187	patient	PubMed: Tsuji 1987	-	-	-	United States	-	-	-	-	-	GD	see paper; ..., acute neuronopathic	GBA	GBA	1	1	Johan den Dunnen
00440188	patient	PubMed: Tsuji 1987	7 unrelated GD cases	-	-	United States	-	-	-	-	-	GD	see paper; ..., chronic neuronopathic	GBA	GBA	1	7	Johan den Dunnen
00440189	patient	PubMed: Tsuji 1987	4 unrelated GD cases	-	-	United States	-	-	-	-	-	GD	see paper; ..., chronic neuronopathic	GBA	GBA	1	4	Johan den Dunnen
00440190	-	PubMed: Tsuji 1987	2 unrelated GD cases	-	-	United States	-	-	-	-	-	GD	see paper; ..., acute neuronopathic	GBA	GBA	1	2	Johan den Dunnen
00440191	-	PubMed: Tsuji 1987	4 unrelated GD cases	-	-	United States	-	-	-	-	-	GD	see paper; ..., non-neuronopathic	GBA	GBA	1	4	Johan den Dunnen
00440192	PatPE	PubMed: Hong 1990	-	-	-	United States	-	-	-	-	-	GD	-	GBA	GBA	1	1	Johan den Dunnen
00440193	patient	PubMed: Ohshima 1993	-	-	-	Japan	-	-	-	-	-	GD	see paper; ...	GBA	GBA	2	1	Johan den Dunnen
00440195	twins	PubMed: Beutler 1994	2-generation family, affected twin sisters, unaffected heterozygous parents	F	-	United States	-	-	-	-	-	GD	see paper; ..., moderately severe Gaucher disease	GBA	GBA	2	1	Johan den Dunnen
00440196	MSM79	PubMed: Latham 1990	-	-	-	United States	Sweden	-	-	-	-	GD	see paper; ..., 10y-visceral involvement, seizures and/or mental retardation	GBA	GBA	1	1	Johan den Dunnen
00440197	MSM80	PubMed: Latham 1990	-	-	-	United States	Sweden	-	-	-	-	GD	see pape; ... 25y-visceral involvement, seizures and/or mental retardation	GBA	GBA	1	1	Johan den Dunnen
00440198	GM877	PubMed: Latham 1990	-	-	-	United States	-	-	-	-	-	GD	see paper; ...	GBA	GBA	4	1	Johan den Dunnen
00440200	Pat1	PubMed: Pomponio 2005	-	-	-	Colombia	Hispanic	-	-	-	-	GD	splenectomy, severe bone disease	GBA	GBA	2	1	Johan den Dunnen
00440201	Pat2	PubMed: Pomponio 2005	-	-	-	Colombia	Hispanic	-	-	-	-	GD	splenomegaly, hepatomegaly, mild bone disease	GBA	GBA	2	1	Johan den Dunnen
00440202	Pat3	PubMed: Pomponio 2005	-	-	-	Colombia	Europe;Mestizo	-	-	-	-	GD	splenectomy, severe bone disease, avascular necrosis, bone crises	GBA	GBA	2	1	Johan den Dunnen

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Global Variome shared LOVD

R3HCC1 (R3H domain and coiled-coil containing 1)