Disease #05349 (CGD (granulomatous disease, chronic))

Official abbreviation	CGD
Name	granulomatous disease, chronic
OMIM ID	-
Inheritance	-
Individuals reported having this disease	1322
Phenotype entries for this disease	1305
Associated with 6 genes	C17orf62, CYBA, CYBB, NCF1, NCF2, NCF4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-11-24 16:14:58 +01:00 (CET)
Date last edited	2023-02-13 16:42:42 +01:00 (CET)

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.

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'

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1322 entries on 14 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
00138540	-	PubMed: Brown	-	M	-	-	-	-	-	-	-	CGD, DMD, MCLDS	-	DMD	DMD	1	1	Johan den Dunnen
00138541	-	PubMed: Brown	-	M	-	-	-	-	-	-	-	CGD, DMD, MCLDS	-	DMD	DMD	1	1	Johan den Dunnen
00143801	22383943-Pat1	PubMed: Arai 2012	carrier mother	M	-	Japan	-	-	-	-	-	CGD	-	CYBB	CYBB	1	1	Johan den Dunnen
00143802	22383943-Pat2	PubMed: Arai 2012	carrier mother	M	-	Japan	-	-	-	-	-	CGD	-	CYBB, DYNLT3	CYBB, DYNLT3	1	1	Johan den Dunnen
00143803	22383943-Pat3	PubMed: Arai 2012	carrier mother	M	-	Japan	-	-	-	-	-	CGD	reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK	CYBB	CYBB, DYNLT3, XK	1	1	Johan den Dunnen
00143804	22383943-Pat4	PubMed: Arai 2012	mother not a carrier	M	-	Japan	-	-	-	-	-	CGD	reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK	CYBB	CYBB, DYNLT3, XK	1	1	Johan den Dunnen
00143805	22383943-Pat5	PubMed: Arai 2012	carrier mother	F	-	Japan	-	-	-	-	-	CGD	history of increased susceptibility to infection at the clinical diagnosis CGD; 11y-increased susceptibility to infection, marked reduction in ROS productivity (0.05)	CYBB	CYBB, DMD, DYNLT3, XK	1	1	Johan den Dunnen
00415357	FamPatA/B	PubMed: Arnadottir 2018	2 generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Iceland	-	-	-	-	-	CGD	see paper; ...,	-	C17orf62, GCGR	2	2	Johan den Dunnen
00415358	PatC	PubMed: Arnadottir 2018	-	M	-	Iceland	-	-	-	-	-	CGD	see paper; ...,	C17orf62	C17orf62	1	1	Johan den Dunnen
00415359	PatD	PubMed: Arnadottir 2018	-	F	-	Iceland	-	-	-	-	-	CGD	see paper; ...,	C17orf62	C17orf62	1	1	Johan den Dunnen
00415360	PatE	PubMed: Arnadottir 2018	-	M	-	Iceland	-	-	-	-	-	CGD	see paper; ...,	C17orf62	C17orf62	1	1	Johan den Dunnen
00415361	PatF	PubMed: Arnadottir 2018	-	M	-	Iceland	-	-	-	-	-	CGD	see paper; ...,	C17orf62	C17orf62	1	1	Johan den Dunnen
00415362	PatG	PubMed: Arnadottir 2018	-	F	-	Iceland	-	-	-	-	-	CGD	see paper; ...,	C17orf62	C17orf62	1	1	Johan den Dunnen
00415363	PatH	PubMed: Arnadottir 2018	-	M	-	Iceland	-	-	-	-	-	CGD	see paper; ...,	C17orf62	C17orf62	1	1	Johan den Dunnen
00415365	patient	PubMed: Matute 2009	2 generation family, 1 affected, unaffected heterozygous carrier parents	M	no	United States	-	-	-	-	-	CGD	-	NCF4	NCF4	2	1	Johan den Dunnen
00415366	FamA	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	1	Johan den Dunnen
00415367	FamB	PubMed: van de Geer 2018	2 generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	7	Johan den Dunnen
00415368	FamC	PubMed: van de Geer 2018	2 generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives	F;M	-	Portugal	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	2	Johan den Dunnen
00415369	FamD	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Australia	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	2	1	Johan den Dunnen
00415370	FamE	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	1	Johan den Dunnen
00415371	FamF	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	1	Johan den Dunnen
00415372	FamG	PubMed: van de Geer 2018	2 generation family, 1 affected/3 unaffected homozygous, unaffected heterozygous carrier parents/relatives	M	-	Colombia	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	1	Johan den Dunnen
00415373	FamH	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Argentina	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	1	Johan den Dunnen
00415374	FamI	PubMed: van de Geer 2018	3 generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives	F	yes	Kuwait	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	2	Johan den Dunnen
00415375	FamJ	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	Portugal	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	2	1	Johan den Dunnen
00415376	FamK	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Russia	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	1	Johan den Dunnen
00415377	FamL	PubMed: van de Geer 2018	2 generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Chile	-	-	-	-	-	CGD	see paper; ...,	-	NCF4	1	1	Johan den Dunnen
00415378	patient	PubMed: Wright 2019	-	M	-	United States	-	-	-	-	-	CGD	see paper; ..., early onset granulomatous colitis	-	NCF4	1	1	Johan den Dunnen
00415426	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415427	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415428	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415429	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415430	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415431	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415432	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415433	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415434	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415435	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415436	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415437	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415438	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415439	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415440	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415441	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415442	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415443	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415444	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415445	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415446	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415447	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415448	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415449	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415450	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415451	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415452	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415453	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415454	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415455	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415456	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415457	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415458	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415459	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415460	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415461	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415462	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415463	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415464	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415465	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415466	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415467	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415468	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415469	-	PubMed: Noack 2001, Journal: Noack 2001	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415470	Pat1	PubMed: Noack 2001, Journal: Noack 2001	-	F	-	United States	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415471	Pat2	PubMed: Noack 2001, Journal: Noack 2001	-	F	-	United States	Europe	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415472	Pat3	PubMed: Noack 2001, Journal: Noack 2001	-	M	-	United States	-	02y	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	2	Johan den Dunnen
00415473	Pat4	PubMed: Noack 2001, Journal: Noack 2001	-	M	-	United States	Hispanic	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415474	Pat5	PubMed: Noack 2001, Journal: Noack 2001	-	M	-	United States	Hispanic	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415475	Pat6	PubMed: Noack 2001, Journal: Noack 2001	-	M	-	United States	Pakistan	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415477	Fam1	PubMed: Roos 2006, Journal: Roos 2006	-	-	-	-	white	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415478	Fam2	PubMed: Roos 2006, Journal: Roos 2006	-	-	-	-	white	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415479	Fam3	PubMed: Roos 2006, Journal: Roos 2006	-	-	-	-	white	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415480	Fam4	PubMed: Roos 2006, Journal: Roos 2006	-	-	-	Turkey	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415481	Fam5	PubMed: Roos 2006, Journal: Roos 2006	-	-	-	-	white	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415482	Fam6	PubMed: Roos 2006, Journal: Roos 2006	-	-	-	-	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415483	Fam7	PubMed: Roos 2006, Journal: Roos 2006	-	-	yes	Turkey	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415484	Fam8	PubMed: Roos 2006, Journal: Roos 2006	-	-	yes	Turkey	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415485	Fam9	PubMed: Roos 2006, Journal: Roos 2006	-	-	yes	Israel	Dagestan	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	2	1	Johan den Dunnen
00415486	FamF	PubMed: de Boer 2002, Journal: de Boer 2002	2 generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	CGD	see paper; ...,	NCF1	NCF1	1	1	Johan den Dunnen
00415487	FamO	PubMed: de Boer 2002, Journal: de Boer 2002	2 generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Turkey	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415488	PatSR	PubMed: Volpp 1993, Journal: Volpp 1993	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	2	1	Johan den Dunnen
00415489	PatKS	PubMed: Volpp 1993, Journal: Volpp 1993	-	-	-	United States	-	-	-	-	-	CGD	-	NCF1	NCF1	1	1	Johan den Dunnen
00415490	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415491	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415492	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415493	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415494	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415495	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415496	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415497	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen
00415498	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	NCF1	NCF1	1	1	Johan den Dunnen

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Global Variome shared LOVD

JKAMP (JNK1/MAPK8-associated membrane protein)