All individuals with variants in gene SMAD9

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.

55 entries on 1 page. Showing entries 1 - 55.

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
00081427	-	-	-	-	-	China	Han	-	-	-	-	OPLL	thoracic ossification of the ligamentum flavum, long regional at the thoracic spine	1	1	Xiaochen Qu
00290925	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	14	Mohammed Faruq
00290926	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	231	Mohammed Faruq
00290927	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00304408	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00386957	Pat14	PubMed: Shintani 2009	3-generation family, 1 affected, unaffected heterozygous carrier father	M	no	Japan	Unknown	-	-	-	epoprostenol, continuous intravenous prostacyclin	PPH2	heart murmur (HP:0030148), pneumonia (HP:0002090)	1	1	Litika Vermani
00387364	HPAH-3	PubMed: Drake 2011	-	F	?	United States	-	?	-	-	-	PPH2	-	1	1	Litika Vermani
00387685	Case 4	PubMed: Nasim 2011	-	F	-	Japan	Japan	-	-	-	intravenous epoprostenol Lung transplantation	PPH2	-	1	1	Litika Vermani
00387686	FamPatIII.1	PubMed: Gregson 2020	3-generation family, 3 affected (3F)	F	-	United Kingdom (Great Britain)	white	-	-	-	-	OPTA	Bone pain (HP:0002653), No Bone fracture (HP:0020110), Myopia (HP:0000545), Mandibular prognathia (HP:0000303), Torus palatinus (HP:0100789)	1	3	Litika Vermani
00388539	P5	PubMed: Gelinas 2020	family, 3 heterozygous carriers members (proband, mother, maternal grandfather)	F	no	Netherlands;United Kingdom (Great Britain)	White	05y	-	-	-	hypertension	carrier mother also suffered from pulmonary arterial hypertension; maternal grandfather obligate carrier	1	1	Litika Vermani
00397666	Pat285	PubMed: Xi 2016	-	?	?	China	Chinese Han	-	-	-	-	PPH2	-	1	1	Litika Vermani
00398661	UK case	PubMed: Gregson 2020	-	F	no	United Kingdom (Great Britain)	White	-	-	-	-	osteoporosis	Bone pain (HP:0002653), Myopia (HP:0000545), Polycystic Ovary Syndrome 1 (OMIM:184700), Bipolar affective disorder (HP:0007302), Psoriasiform dermatitis (HP:0003765), Long foot (HP:0001833), Mandibular prognathia (HP:0000303)	1	1	Litika Vermani
00398662	patient	PubMed: Walcott 2018	-	F	?	(United Kingdom (Great Britain))	White	-	-	-	surgery	BAVM	cerebral hemorrhage (HP:0001342), recurrent brain arteriovenous malformations	1	1	Litika Vermani
00408465	3684TE	PubMed: Ngeow 2015	-	M	no	United States	White	38y	-	-	-	JPS	Diarrhea (HP:0002014), Weight loss (HP:0001824), Hamartomatous polyposis (HP:0004390)	1	1	Litika Vermani
00412280	TCGA-G4-6295-01	PubMed: Cancer Genome Atlas Network 2012	-	F	?	-	-	-	-	-	-	cancer, colon	-	1	1	Litika Vermani
00412302	TCGA-B6-A0WV-01	-	-	F	?	-	-	-	-	-	-	cancer, breast	-	1	1	Litika Vermani
00412303	TCGA-EI-6917-01	PubMed: Cancer Genome Atlas Network 2012	-	M	?	-	-	-	-	-	-	cancer, rectal	-	1	1	Litika Vermani
00412304	TCGA-HF-7132-01	-	-	M	?	-	-	-	-	-	-	cancer, gastric	-	1	1	Litika Vermani
00412305	tumor_4169012	-	ICGC(MALY-DE) : Malignant Lymphoma (DKFZ,DE)	F	-	-	-	-	-	-	-	ALL	-	1	1	Litika Vermani
00412306	TCGA-A3-3346-01	-	COSMIC sample ID COSS1779783	M	-	-	-	-	-	-	-	cancer, kidney	-	1	1	Litika Vermani
00412307	TCGA-AA-3662-01	PubMed: Cancer Genome Atlas Network 2012	-	F	?	-	-	-	-	-	-	cancer, colon	-	1	1	Litika Vermani
00412308	TCGA-EL-A3ZQ-01	-	-	F	-	-	-	-	-	-	-	NMTC	-	1	1	Litika Vermani
00412309	NKI_OSCC_12	PubMed: Vossen 2018	-	?	-	-	-	-	-	-	-	HNSCC	-	1	1	Litika Vermani
00412310	TCGA-EE-A29D-06	-	-	M	?	-	-	-	-	-	-	melanoma	-	1	1	Litika Vermani
00412311	TCGA-FP-A4BE-01	-	-	M	-	-	-	-	-	-	-	cancer, gastric	-	1	1	Litika Vermani
00412312	SJERG028_D	-	-	M	-	-	-	-	-	-	-	ALL	-	1	1	Litika Vermani
00412314	TCGA-AA-3663-01	-	-	M	-	-	-	-	-	-	-	cancer, colon	-	1	1	Litika Vermani
00412496	ESO-169	PubMed: Dulak 2013	-	M	-	-	-	-	-	-	-	cancer, gastric	-	1	1	Litika Vermani
00412497	TCGA-G2-AA3C-01	-	-	M	-	-	-	-	-	-	-	cancer, bladder	-	1	1	Litika Vermani
00412498	TCGA-B5-A0JY-01	-	-	F	-	-	-	-	-	-	-	cancer, endometrial	-	1	1	Litika Vermani
00412499	TCGA-D1-A103-01	-	-	F	-	-	-	-	-	-	-	cancer, endometrial	-	1	1	Litika Vermani
00412501	TCGA-D3-A5GU-06	-	-	M	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412502	TCGA-BR-6457-01	-	-	M	-	-	-	-	-	-	-	cancer, gastric	-	1	1	Litika Vermani
00412503	TCGA-EE-A2M5-06	-	-	M	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412504	I2L-P7-Tumor-Organoid	PubMed: van de Wetering 2015	-	F	-	-	-	-	-	-	-	cancer, colon	-	1	1	Litika Vermani
00412505	TCGA-G5-6235-01	-	-	M	-	-	-	-	-	-	-	cancer, rectal	-	1	1	Litika Vermani
00412506	TCGA-78-7148-01	-	-	M	-	-	-	-	-	-	-	cancer, lung	-	1	1	Litika Vermani
00412507	PD37592c	PubMed: Rabbie 2021	-	M	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412508	PD42103a	PubMed: Rabbie 2021	-	M	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412509	TCGA-AG-3892-01	PubMed: Cancer Genome Atlas Network 2012	-	F	-	-	-	-	-	-	-	cancer, rectal	-	1	1	Litika Vermani
00412526	TCGA-EB-A41A-01	-	-	M	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412535	TCGA-AN-A0AK-01	-	-	F	-	-	-	-	-	-	-	cancer, breast	-	1	1	Litika Vermani
00412538	TCGA-DA-A1HV-06	-	-	F	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412539	TCGA-AP-A059-01	-	-	F	-	-	-	-	-	-	-	cancer, endometrial	-	1	1	Litika Vermani
00412540	TCGA-B5-A0JY-01	-	-	F	-	-	-	-	-	-	-	cancer, endometrial	-	1	1	Litika Vermani
00412541	TCGA-G4-6320-01	PubMed: Cancer Genome Atlas Network 2012	-	M	-	-	-	-	-	-	-	cancer, colon	-	1	1	Litika Vermani
00412554	TCGA-D1-A16X-01	-	-	F	-	-	-	-	-	-	-	cancer, endometrial	-	1	1	Litika Vermani
00412555	PT50	PubMed: Sharpe 2015	-	-	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412557	TCGA-EE-A29D-06	-	-	M	-	-	-	-	-	-	-	cancer, skin	-	1	1	Litika Vermani
00412558	TCGA-TM-A7CF-01	-	-	F	-	-	-	-	-	-	-	cancer, brain	-	1	1	Litika Vermani
00412559	TCGA-BR-8591-01	-	-	M	-	-	-	-	-	-	-	cancer, gastric	-	1	1	Litika Vermani
00412560	TCGA-E2-A1BC-01	-	-	F	-	-	-	-	-	-	-	cancer, breast	-	1	1	Litika Vermani
00412561	TCGA-DB-5281-01	-	-	M	-	-	-	-	-	-	-	cancer, brain	-	1	1	Litika Vermani
00412562	TCGA-G2-A2ES-01ca	-	-	M	-	-	-	-	-	-	-	cancer, bladder	-	1	1	Litika Vermani
00412563	TCGA-AP-A056-01	-	-	F	-	-	-	-	-	-	-	cancer, endometrial	-	1	1	Litika Vermani

Legend

How to query

Global Variome shared LOVD

SMAD9 (SMAD family member 9)