Disease #00389 (TOF (tetralogy of Fallot (TOF)), OMIM:187500)

Official abbreviation	TOF
Name	tetralogy of Fallot (TOF)
OMIM ID	187500
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	102
Phenotype entries for this disease	94
Associated with 7 genes	GATA4, GATA6, GDF1, JAG1, NKX2-5, TBX1, ZFPM2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-05-30 08:58:25 +02:00 (CEST)
Date last edited	2021-10-27 15:03:22 +02:00 (CEST)

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
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^	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'
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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
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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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102 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00034470	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034471	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034473	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034474	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034475	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034476	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034477	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034478	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034479	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034480	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034481	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034482	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034483	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034484	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034485	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034486	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034487	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034488	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034489	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034490	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034491	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034492	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034493	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034494	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034495	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034496	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00034497	-	-	-	-	-	-	-	-	-	-	-	TOF	Tetralogy of Fallot	-	-	1	1	Marta Sanchez Castro
00222788	-	-	-	-	yes	China	-	-	-	-	-	TOF	atrioventricular septal defect, patent ductus arteriosus, atrial fibrillation	GATA4	GATA4	1	1	Yi-Qing Yang
00222789	-	-	-	-	yes	China	-	-	-	-	-	TOF	atrial septal defect	GATA4	GATA4	1	1	Yi-Qing Yang
00222790	-	-	-	-	yes	China	-	-	-	-	-	TOF	-	GATA4	GATA4	1	1	Yi-Qing Yang
00239597	-	PubMed: Eldadah 2001	-	-	-	-	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239598	Pat6	PubMed: Bauer 2010	-	-	-	United States	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239599	Pat2	PubMed: Bauer 2010	-	-	-	United States	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239600	Pat1	PubMed: Bauer 2010	-	-	-	United States	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239601	TF4	PubMed: Guida 2011	-	-	-	Italy	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239602	-	PubMed: Glaeser 2006	-	-	-	-	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239603	-	PubMed: Glaeser 2006	-	-	-	-	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239604	-	PubMed: Kola 2011	-	-	-	India	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239605	-	PubMed: Kola 2011	-	-	-	India	-	-	-	-	-	TOF	see paper; …	JAG1	JAG1	1	1	Johan den Dunnen
00239618	-	PubMed: Kola 2011	-	-	-	India	-	-	-	-	-	TOF	see paper; ...	JAG1	JAG1	1	1	Johan den Dunnen
00239619	-	PubMed: Kola 2011	-	-	-	India	-	-	-	-	-	TOF	see paper; ...	JAG1	JAG1	1	1	Johan den Dunnen
00239620	-	PubMed: Rauch 2010	-	-	-	Switzerland	-	-	-	-	-	TOF	Alagille facies, mild mental retardation, RAA, singular origin of left subclavian artery, truncus bicaroticus	JAG1	JAG1	1	1	Johan den Dunnen
00239621	-	PubMed: Rauch 2010	-	-	-	Switzerland	-	-	-	-	-	TOF	Alagille facies, severe mental retardation, hypernasality, dysplastic ears, flat nasal bridge, wide-set nipples, extrahepatic biliary atresia, peripheral pulmonary stenosis	JAG1	JAG1	1	1	Johan den Dunnen
00266674	-	PubMed: Abou Hassan 2015	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266678	-	PubMed: Abou Hassan 2015	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266679	-	PubMed: Akçaboy 2008	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266682	-	PubMed: Beffagna 2013	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266685	-	PubMed: Belvís 2009	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266691	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD7, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266693	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266696	-	PubMed: Bjørnstad 2009	-	-	-	-	-	-	-	-	-	ASD7, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266714	-	PubMed: Costa 2013	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266718	-	PubMed: De Luca 2011	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266721	-	PubMed: Dentice 2006	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266734	-	PubMed: Elliott 2003	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266737	-	PubMed: Esposito 2009	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266738	-	PubMed: Freudenberg-Hua 2014	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266739	-	PubMed: Freudenberg-Hua 2014	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266741	-	PubMed: Gioli-Pereira 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266742	-	PubMed: Goldmuntz 2001	-	-	-	-	-	-	-	-	-	TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266743	-	PubMed: Goldmuntz 2001	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266744	-	PubMed: Goldmuntz 2001	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266745	-	PubMed: Goldmuntz 2001	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266752	-	PubMed: Gutierrez-Roelens 2002	-	-	-	-	-	-	-	-	-	ASD7, TOF, VSD	, pulmonic stenosis; PDA	NKX2-5	NKX2-5	1	1	Liliana Dain
00266776	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266778	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266786	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, TOF, VSD	, pulmonic stenosis; PDA	NKX2-5	NKX2-5	1	1	Liliana Dain
00266788	-	PubMed: Khatami 2017	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266792	-	PubMed: Khatami 2018	-	-	-	-	-	-	-	-	-	TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266795	-	PubMed: Kodo 2012	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266819	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266823	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266824	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266827	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266828	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266829	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266839	-	PubMed: Porto 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266844	-	PubMed: Pulignani 2018	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266845	-	PubMed: Pulignani 2018	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266850	-	PubMed: Rauch 2010	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266851	-	PubMed: Rauch 2010	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266852	-	PubMed: Rauch 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266873	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266902	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266921	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266941	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266953	-	PubMed: Salazar 2011	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266963	-	PubMed: Stallmeyer 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266972	-	PubMed: Uysal 2017	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266973	-	PubMed: van Engelen 2012	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266975	-	PubMed: Vega 2016	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266979	-	PubMed: Wang 2011	-	-	-	-	-	-	-	-	-	TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266999	-	PubMed: Yu 2014	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00307569	TF4	PubMed: Guida 2011	-	-	-	Italy	-	-	-	-	-	TOF	-	JAG1	JAG1	1	1	Johan den Dunnen
00307570	TF47	PubMed: Guida 2011	-	-	-	Italy	-	-	-	-	-	TOF	-	JAG1	JAG1	1	1	Johan den Dunnen
00307571	TF35	PubMed: Guida 2011	-	-	-	Italy	-	-	-	-	-	TOF	-	JAG1	JAG1	1	1	Johan den Dunnen
00307572	HD026	PubMed: Guida 2011	-	-	-	Italy	-	-	-	-	-	TOF	-	JAG1	JAG1	1	1	Johan den Dunnen
00307576	-	PubMed: Guegan 2012	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	TOF	-	JAG1	JAG1	1	1	Johan den Dunnen
00307577	-	PubMed: Guegan 2012	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	TOF	-	JAG1	JAG1	1	1	Johan den Dunnen
00307578	-	PubMed: Guegan 2012	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	TOF	-	JAG1	JAG1	1	1	Johan den Dunnen

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Global Variome shared LOVD

NDUFAF7 (NADH:ubiquinone oxidoreductase complex ass...)