Disease #01188 (ASD7 (septal defect, atrial, type 7 with/without atrioventricular conduction defects (ASD7)), OMIM:108900)

Official abbreviation	ASD7
Name	septal defect, atrial, type 7 with/without atrioventricular conduction defects (ASD7)
OMIM ID	108900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	74
Phenotype entries for this disease	74
Associated with 1 gene	NKX2-5
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-10-27 15:01:49 +02:00 (CEST)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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74 entries on 1 page. Showing entries 1 - 74.

Legend

How to query

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
00266675	-	PubMed: Abou Hassan 2015	-	-	-	-	-	-	-	-	-	ASD7	-	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
00266689	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD7, ATFB	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266690	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD7, Ebstein anomaly	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266691	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD7, 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
00266711	-	PubMed: Costa 2013	-	-	-	-	-	-	-	-	-	ASD7, CMD, LVNC	, tricuspid atresia	NKX2-5	NKX2-5	1	1	Liliana Dain
00266727	-	PubMed: El Malti 2016	-	-	-	-	-	-	-	-	-	ASD7, CMD, CPVT, SUD	-	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
00266751	-	PubMed: Gutierrez-Roelens 2002	-	-	-	-	-	-	-	-	-	ASD7, TAPVR	-	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
00266754	-	PubMed: Gutierrez-Roelens 2006	-	-	-	-	-	-	-	-	-	ASD7	MVP: mitral valve prolapse	NKX2-5	NKX2-5	1	1	Liliana Dain
00266755	-	PubMed: Hanley 2016	-	-	-	-	-	-	-	-	-	ASD7, CMD, LVNC	, tricuspid atresia	NKX2-5	NKX2-5	1	1	Liliana Dain
00266756	-	PubMed: Hanley 2016	-	-	-	-	-	-	-	-	-	ASD7, ATFB, CMD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266757	-	PubMed: Hatemi 2011	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266759	-	PubMed: Hirayama-Yamada 2005	-	-	-	-	-	-	-	-	-	ASD7	-	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
00266761	-	PubMed: Hirayama-Yamada 2005	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266762	-	PubMed: Hosoda 1999	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266767	-	PubMed: Ikeda 2002	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266769	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, CTHM, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266770	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266771	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266772	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, ATFB	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266773	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, Ebstein anomaly	, tricuspid valve abnormality	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
00266775	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266776	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, 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
00266781	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, ATFB	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266782	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, Ebstein anomaly	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266783	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, TAPVR	-	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
00266796	-	PubMed: König 2006	-	-	-	-	-	-	-	-	-	ASD7	-	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
00266805	-	PubMed: Liu 2011	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266806	-	PubMed: Liu 2011	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266807	-	PubMed: Liu 2011	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266809	-	PubMed: Matsuoka 2005	-	-	-	-	-	-	-	-	-	ASD7	-	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
00266811	-	PubMed: Matsuoka 2005	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266822	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266831	-	PubMed: Ouyang 2011	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266833	-	PubMed: Pabst 2008	-	-	-	-	-	-	-	-	-	ASD7, VSD	, pulmonic stenosis	NKX2-5	NKX2-5	1	1	Liliana Dain
00266834	-	PubMed: Palomino Doza 2018	-	-	-	-	-	-	-	-	-	ASD7, LVNC	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266838	-	PubMed: Perera 2014	-	-	-	-	-	-	-	-	-	ASD7, AVSD, coarctation, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266846	-	PubMed: Qu 2014	-	-	-	-	-	-	-	-	-	aortic stenosis, AOVD1, ASD7, ATFB	-	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
00266928	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266950	-	PubMed: Rifai 2007	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266955	-	PubMed: Sarkozy 2005	-	-	-	-	-	-	-	-	-	ASD7, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266956	-	PubMed: Sarkozy 2005	-	-	-	-	-	-	-	-	-	ASD7, LVNC, VSD	, MVP: mitral valve prolapse	NKX2-5	NKX2-5	1	1	Liliana Dain
00266957	-	PubMed: Sarkozy 2005	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266958	-	PubMed: Schott 1998	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266959	-	PubMed: Schott 1998	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266960	-	PubMed: Schott 1998	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266961	-	PubMed: Stallmeyer 2010	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266962	-	PubMed: Stallmeyer 2010	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266964	-	PubMed: Tang 2016	-	-	-	-	-	-	-	-	-	ASD7, LVNC	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266983	-	PubMed: Watanabe 2002	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266984	-	PubMed: Watanabe 2002	-	-	-	-	-	-	-	-	-	ASD7, ATFB, RAI	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266986	-	PubMed: Xie 2013	-	-	-	-	-	-	-	-	-	ASD7, ATFB	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266992	-	PubMed: Xu 2017	-	-	-	-	-	-	-	-	-	ASD7	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266993	-	PubMed: Xu 2017	-	-	-	-	-	-	-	-	-	ASD7, CMD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266994	-	PubMed: Xu 2017	-	-	-	-	-	-	-	-	-	ASD7, CMD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00267007	-	PubMed: Zhu 2000	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00267008	-	PubMed: Zhu 2000	-	-	-	-	-	-	-	-	-	ASD7, HLHS1, VSD	, SSS: sick sinus syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00267009	-	PubMed: Zhu 2000	-	-	-	-	-	-	-	-	-	ASD7, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain

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How to query

Global Variome shared LOVD

ERLIN1 (ER lipid raft associated 1)