Disease #04205 (VSD (septal, ventricular defect (VSD)))

Official abbreviation	VSD
Name	septal, ventricular defect (VSD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	129
Phenotype entries for this disease	129
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-02-20 21:46:43 +01:00 (CET)
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
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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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!=""	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
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>=	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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129 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
00001480	-	-	-	F	?	-	-	-	-	-	-	ASD, IP, VSD	-	IKBKG	IKBKG	1	1	Francesca Fusco
00032405	-	PubMed: Wang 2013, Journal: Wang 2013	3-generation family, 1 affected	M	no	China	Chinese, Han	>01y	-	-	-	VSD	ventricular septal defect, double outlet right ventricle	PITX2	PITX2	1	1	Johan den Dunnen
00032406	-	PubMed: Wang 2013, Journal: Wang 2013	3-generation family, 4 affecteds (2F, 2M)	-	no	China	Chinese, Han	-	-	-	-	VSD	see paper; ventricular septal defect, atrial septal defect, ..	PITX2	PITX2	1	4	Johan den Dunnen
00228777	-	PubMed: Yokoyama 2018	3-generation family, 1 affected	F	-	Japan	-	-	-	-	-	VSD	see paper; ..., 4m-complete LBBB; 6m-VSD was closed spontaneously, LVNC and heart failure observed	DMD, HCN4	DMD, EMD, HCN4, SCN5A	4	1	Johan den Dunnen
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
00266687	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD7, CTHM, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266688	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD7, 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
00266709	-	PubMed: Chen 2010	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266712	-	PubMed: Costa 2013	-	-	-	-	-	-	-	-	-	AOVD1, ASD, CHNG5, coarctation, HLHS1, 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
00266717	-	PubMed: De Luca 2010	-	-	-	-	-	-	-	-	-	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
00266720	-	PubMed: Dentice 2006	-	-	-	-	-	-	-	-	-	AOVD1, ASD, CHNG5, coarctation, HLHS1, 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
00266731	-	PubMed: El-Bouchikhi 2017	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266732	-	PubMed: Ellesøe 2016	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266733	-	PubMed: Elliott 2003	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	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
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
00266744	-	PubMed: Goldmuntz 2001	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	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
00266756	-	PubMed: Hanley 2016	-	-	-	-	-	-	-	-	-	ASD7, ATFB, CMD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266760	-	PubMed: Hirayama-Yamada 2005	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266769	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, CTHM, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266771	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266774	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	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
00266779	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266780	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266784	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266785	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, VSD	, tricuspid valve abnormality	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
00266799	-	PubMed: Liu 2009	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266802	-	PubMed: Liu 2009	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266803	-	PubMed: Liu 2009	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266805	-	PubMed: Liu 2011	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266807	-	PubMed: Liu 2011	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266810	-	PubMed: Matsuoka 2005	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266816	-	PubMed: Mattapally 2018	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266823	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	TOF, VSD	-	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
00266833	-	PubMed: Pabst 2008	-	-	-	-	-	-	-	-	-	ASD7, VSD	, pulmonic stenosis	NKX2-5	NKX2-5	1	1	Liliana Dain
00266835	-	PubMed: Peng 2010	-	-	-	-	-	-	-	-	-	coarctation, VSD	, PDA	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
00266843	-	PubMed: Pulignani 2018	-	-	-	-	-	-	-	-	-	VSD	pulmonic stenosis	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
00266852	-	PubMed: Rauch 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266855	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266857	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266858	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266860	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266862	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266865	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266866	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266867	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266868	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266870	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266872	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266873	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266874	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266876	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266877	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266878	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266879	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266881	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266889	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266891	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266892	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266893	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266894	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266898	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266899	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266900	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266901	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	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
00266904	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266909	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266910	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266911	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266912	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266913	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266915	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266916	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266917	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266918	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266919	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266920	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266921	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266922	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain

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Global Variome shared LOVD

GNPAT (glyceronephosphate O-acyltransferase)