All individuals with variants in gene SOX17

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

69 entries on 1 page. Showing entries 1 - 69.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00314958	-	-	-	-	-	-	-	-	-	-	-	ASD	pulmonary arterial hypertension (HP:0002092)	1	1	Yi-Qing Yang
00316094	K127	PubMed: Heidet 2017	affected patient and 1st degree relative	-	-	France	-	-	-	-	-	CAKUT	unilateral multicystic dysplasia; unilateral kidney agenesis	1	2	Johan den Dunnen
00330866	-	-	-	-	-	China	-	-	-	-	-	CHD	patent ductus arteriosus (PDA), pulmonary stenosis (PS), and atrial septal defect (ASD).	1	1	Yi-Qing Yang
00471136	HTP1301-Pat1	PubMed: Gallego-Zazo 2023	patient, no family history	M	-	Spain	-	-	-	-	-	PPH	choledochal cyst, patent foramen ovale, small patent ductus arteriosus	1	1	Lucía Miranda-Alcaraz
00471137	HTP973-Pat2	PubMed: Gallego-Zazo 2023	patient, no family history	M	-	Spain	-	-	-	-	-	PPH	patent foramen ovale, positive antinuclear antibodies)	1	1	Lucía Miranda-Alcaraz
00471138	HTP1089-Pat3	PubMed: Gallego-Zazo 2023	patient, no family history	M	-	Spain	-	-	-	-	-	PPH	left isomerism, inferior vena cava draining through hemiazygos vein to coronary sinus, right atrium atrial septal defect	1	1	Lucía Miranda-Alcaraz
00471139	HTP964-Pat4	PubMed: Gallego-Zazo 2023	patient, no family history	F	-	Spain	-	-	-	-	-	PPH	juvenile rheumatoid arthritis, T-cell large granular lymphocyte leukemia, hypothyroidism	1	1	Lucía Miranda-Alcaraz
00471140	HTP1010-Pat5	PubMed: Gallego-Zazo 2023	patient, no family history	F	-	Spain	-	-	-	-	-	PPH	big atrial septal defect, patent ductus arteriosus in Eisenmenger, autism	1	1	Lucía Miranda-Alcaraz
00471141	HTP379-Pat6	PubMed: Gallego-Zazo 2023	patient, no family history	M	-	Spain	-	-	-	-	-	PPH	67y-severeleft ventricle systolic dysfunction, atrial tachycardia	1	1	Lucía Miranda-Alcaraz
00471142	SPO-Pat7	PubMed: Gallego-Zazo 2023	patient, no family history	M	-	Spain	-	-	-	-	-	PPH	patent foramen ovale, hypercoagulability, obstructive sleep apnea	1	1	Lucía Miranda-Alcaraz
00471143	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471144	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471145	-	PubMed: Zhu 2019	patient	F	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471146	-	PubMed: Zhu 2018	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471147	-	PubMed: Zhu 2019	patient	M	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471148	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471149	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471150	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471151	-	PubMed: Hiraide 2018	patient	F	-	Japan	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471152	-	PubMed: Hiraide 2018	patient	M	-	Japan	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471153	-	PubMed: Zhu 2018	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471154	-	PubMed: Zhu 2019	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471155	-	PubMed: Zhu 2019	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, portopulmonar	1	1	Johan den Dunnen
00471156	-	PubMed: Zhu 2018	patient	M	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471157	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471158	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471159	-	PubMed: Zhu 2018	patient	F	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471160	-	PubMed: Hiraide 2018	patient	F	-	Japan	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471161	-	PubMed: Zhu 2018	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471162	-	Wang 2019 acc. Gallego-Zazo-37895315	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471163	-	PubMed: Zhu 2019	patient	F	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471164	-	PubMed: Wang 2021	patient	F	-	China	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471165	-	PubMed: Zhu 2018	patient	M	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471166	-	PubMed: Zhu 2019	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471167	-	PubMed: Zhu 2018	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471168	-	PubMed: Zhu 2019	patient	F	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471169	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471170	-	PubMed: Montani 2022	patient	M	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471171	-	PubMed: Hiraide 2018	patient	F	-	Japan	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471172	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471173	-	PubMed: Zhu 2018	patient	M	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471174	-	Wang 2019 acc. Gallego-Zazo-37895315	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471175	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471176	-	PubMed: Montani 2022	patient	M	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471177	-	PubMed: Montani 2022	patient	M	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471178	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471179	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471180	-	PubMed: Montani 2022	patient	M	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471181	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471182	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471183	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471184	-	PubMed: Montani 2022	patient	M	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471185	-	PubMed: Zhu 2018	patient	M	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471186	-	PubMed: Graf 2018	patient	F	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471187	-	PubMed: Montani 2022	patient	M	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471188	-	PubMed: Zhu 2018	patient	F	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471189	-	PubMed: Zhu 2018	patient	F	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471190	-	PubMed: Zhu 2019	patient	F	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471191	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471192	-	PubMed: Zhu 2018	patient	-	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471193	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471194	-	PubMed: Zhu 2018	patient	M	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, congenital heart disease	1	1	Johan den Dunnen
00471195	-	Wang 2019 acc. Gallego-Zazo-37895315	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471196	-	PubMed: Montani 2022	patient	M	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471197	-	PubMed: Zhu 2018	patient	M	-	United States	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471198	-	PubMed: Zhu 2019	patient	M	-	United States	-	-	-	-	-	PPH	pulmonary arterial hypertension, drug and toxins exposure	1	1	Johan den Dunnen
00471199	-	PubMed: Montani 2022	patient	F	-	France	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471200	-	PubMed: Graf 2018	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen
00471201	-	Wang 2019 acc. Gallego-Zazo-37895315	patient	-	-	-	-	-	-	-	-	PPH	idiopathic pulmonary arterial hypertension, heritable	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

SOX17 (SRY (sex determining region Y)-box 17)