All individuals with variants in gene SMAD4

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.

520 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00003295	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00037150	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Morbus Osler	1	1	Andreas Laner
00037151	-	-	-	-	-	Germany	-	-	-	-	-	JPS	Juvenile Polyposis	1	1	Andreas Laner
00037152	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Morbus Osler	1	1	Andreas Laner
00037153	-	-	-	-	-	Germany	-	-	-	-	-	JPS	suspected juvenile polyposis	1	1	Andreas Laner
00049794	-	PubMed: Howe 1998, Journal: Howe 1998	5-generation family, 13 affected, 4 unaffected at-risk carriers	-	no	United States	white, Iowa	-	-	-	-	JPS	hamartomatous polyps, gastrointestinal cancer	1	13	Johan den Dunnen
00049801	-	PubMed: Howe 1998, Journal: Howe 1998	family	-	no	United States	white, Mississipi	-	-	-	-	JPS	-	1	13	Johan den Dunnen
00049802	-	PubMed: Howe 1998, Journal: Howe 1998	family	-	no	Finland	white	-	-	-	-	JPS	-	1	13	Johan den Dunnen
00049803	-	PubMed: Howe 1998, Journal: Howe 1998	sporadic patient	-	-	United States	-	-	-	-	-	JPS	colonic/gastric JP; father gastrointestinal symptoms	1	13	Johan den Dunnen
00049804	-	PubMed: Howe 1998, Journal: Howe 1998	2-generation family, 1 affected, unaffected parents/4 sibs	-	-	United States	-	-	-	-	-	JPS	6y 30-40 colonic juvenile polyps	1	13	Johan den Dunnen
00049805	-	PubMed: Shikata 2005, Journal: Shikata 2005	-	F	?	Japan	-	-	-	-	-	JPS	-	1	1	Johan den Dunnen
00049924	-	PubMed: Houlston 1998, Journal: Houlston 1998	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049925	103984370-FJP-15/12136244-JUV-15	PubMed: Friedl 1999, PubMed: Friedl 2002	-	F	-	Germany	-	-	-	-	-	JPS	12y-50 juvenile polyps; 28y-polyposis of the stomach	1	1	Global Variome, with Curator vacancy
00049926	-	PubMed: Roth 1999	-	-	-	(Finland)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049927	-	PubMed: Roth 1999	-	-	-	Finland	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049928	-	PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000	-	F	-	-	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049929	-	PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000	-	M	-	-	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049930	-	PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000	-	M	-	-	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049931	-	PubMed: Kim 2000	-	M	-	Korea	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049932	-	PubMed: Kim 2000	-	F	-	Korea	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049933	-	PubMed: Kim 2000	-	F	-	Korea	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049934	-	PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001	-	-	-	-	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049935	-	PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001	-	-	-	-	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049937	12136244-JUV-29	PubMed: Friedl 2002	adopted	-	-	Germany	-	-	-	-	-	JPS	no extracolonic features, gastric polyposis not examined	1	1	Global Variome, with Curator vacancy
00049938	12136244-JUV-36	PubMed: Friedl 2002	-	-	-	Germany	-	-	-	-	-	JPS	gastric polyposis,giant gastric folds; 40y-gastrectomy	1	1	Global Variome, with Curator vacancy
00049939	12136244-JUV-37	PubMed: Friedl 2002	-	-	-	Germany	-	-	-	-	-	JPS	36y-gastric polyposis; 40y-gastrectomy; mother, sister, maternal aunt gastric polyposis and partial or total gastrectomy at 47y, 47y, 42y resp.	1	1	Global Variome, with Curator vacancy
00049940	JP2	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	United States	-	-	-	-	-	JPS	-	1	1	Johan den Dunnen
00049941	JP3	PubMed: Sayed 2002	-	-	-	United States	-	-	-	-	-	JPS	-	1	1	Johan den Dunnen
00049942	-	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	-	-	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00049943	-	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	-	-	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00049944	-	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049945	15031030-Fam230	PubMed: Gallione 2004	-	-	-	-	-	-	-	-	-	JPHT	see paper; ...	1	1	Global Variome, with Curator vacancy
00049946	15031030-Fam211	PubMed: Gallione 2004	3-generation family, 4 affected heterozygous carriers	-	-	-	-	-	-	-	-	JPHT	see paper; ...	1	4	Global Variome, with Curator vacancy
00049947	15031030-Ind2616	PubMed: Gallione 2004	-	-	-	-	-	-	-	-	-	JPHT	see paper; ...	1	1	Global Variome, with Curator vacancy
00049948	15031030-Fam236	PubMed: Gallione 2004	-	-	-	-	-	-	-	-	-	JPHT	see paper; ...	1	1	Global Variome, with Curator vacancy
00049949	15031030-Fam25	PubMed: Gallione 2004	2-generation family, 2 affected heterozygous carriers	-	-	-	-	-	-	-	-	JPHT	see paper; ...	1	2	Global Variome, with Curator vacancy
00049950	-	Journal: Howe 2004, Journal: Howe 2004	-	-	-	(United States)	-	-	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00049951	-	Journal: Howe 2004, Journal: Howe 2004	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049952	-	PubMed: Lamireau 2005, Journal: Lamireau 2005	-	F	-	(France)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049953	-	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049954	-	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049955	-	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049956	-	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049957	-	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049958	-	PubMed: Sweet 2005, Journal: Sweet 2005	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049959	-	PubMed: Sweet 2005, Journal: Sweet 2005	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049960	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049961	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049962	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049963	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049964	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JP-HHT	1	1	Global Variome, with Curator vacancy
00049965	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049966	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JP-HHT	1	1	Global Variome, with Curator vacancy
00049967	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049968	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049969	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049970	-	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049971	16613914-UP015	PubMed: Gallione 2006	-	-	-	United States	-	-	-	-	-	JPHT	see paper; telangiectases, epistaxis, AVMs lung and gastrointestinal tract, colonic polyps discoverd during endoscopy, ...	1	1	Global Variome, with Curator vacancy
00049972	17873119-Pat51	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00049973	17873119-Pat44	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00049974	17873119-Pat71	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00049975	17873119-Pat78	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00049976	17873119-Pat57	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	-	JPS	see paper	1	1	Global Variome, with Curator vacancy
00049977	-	PubMed: van Hattem 2008, Journal: van Hattem 2007	-	-	-	(Netherlands)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049978	-	PubMed: van Hattem 2008, Journal: van Hattem 2007	-	-	-	(Netherlands)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049979	-	PubMed: van Hattem 2008, Journal: van Hattem 2007	-	-	-	(Netherlands)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049980	-	PubMed: van Hattem 2008, Journal: van Hattem 2007	-	-	-	(Netherlands)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049981	-	PubMed: Pintiliciuc 2008, Journal: Pintiliciuc 2008	-	F	-	(France)	-	-	-	-	-	JPS	GJP	1	1	Global Variome, with Curator vacancy
00049982	-	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049983	-	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	-	-	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00049984	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JP-HHT	1	1	Global Variome, with Curator vacancy
00049985	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JPS	1	1	Global Variome, with Curator vacancy
00049986	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JP-HHT	1	1	Global Variome, with Curator vacancy
00049987	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JP-HHT	1	1	Global Variome, with Curator vacancy
00049988	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JPS	1	1	Global Variome, with Curator vacancy
00049989	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JP-HHT	1	1	Global Variome, with Curator vacancy
00049990	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JP-HHT	1	1	Global Variome, with Curator vacancy
00049991	-	PubMed: Gallione 2010, Journal: Gallione 2010	-	-	-	(United States)	-	-	-	-	-	JPHT	JP-HHT	1	1	Global Variome, with Curator vacancy
00049992	20685751-Pat	PubMed: Iyer 2010	-	M	-	United States	-	-	-	-	-	JPHT	see paper; ...	1	1	Global Variome, with Curator vacancy
00049993	-	PubMed: Tram 2011, Journal: Tram 2011	-	-	-	(Canada)	-	-	-	-	-	?	breast cancer	1	1	Global Variome, with Curator vacancy
00049994	-	PubMed: Nasim 2011, Journal: Nasim 2011	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00049995	-	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	-	-	-	-	-	JPS	FJP	1	1	SIB - Livia Famiglietti
00049996	-	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	-	-	-	-	-	JPS	FJP	1	1	SIB - Livia Famiglietti
00049997	15031030-Fam153	PubMed: Gallione 2004	3-generation family, 3 affected heterozygous carriers	-	-	-	-	-	-	-	-	JPHT	see paper; ...	1	3	SIB - Livia Famiglietti
00049998	-	PubMed: Houlston 1998, Journal: Houlston 1998	-	-	-	-	-	-	-	-	-	JPS	JPHT	1	1	SIB - Livia Famiglietti
00049999	15031030-Fam234	PubMed: Gallione 2004	2-generation family, 2 affected heterozygous carriers	-	-	-	-	-	-	-	-	JPHT	see paper; ...	1	2	SIB - Livia Famiglietti
00050000	-	PubMed: Caputo 2012, Journal: Caputo 2012	-	M	-	(Italy)	-	-	-	-	-	MYHRS	MYHRS	1	1	SIB - Livia Famiglietti
00050001	-	PubMed: Le Goff 2011	-	-	-	-	-	-	-	-	-	MYHRS	-	1	1	SIB - Livia Famiglietti
00050002	-	PubMed: Caputo 2012, Journal: Caputo 2012	-	F	-	(Italy)	-	-	-	-	-	MYHRS	MYHRS	1	1	SIB - Livia Famiglietti
00050003	-	PubMed: Le Goff 2011	-	-	-	-	-	-	-	-	-	MYHRS	-	1	1	SIB - Livia Famiglietti
00050004	-	PubMed: Le Goff 2011	-	-	-	-	-	-	-	-	-	MYHRS	-	1	1	SIB - Livia Famiglietti
00050395	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	cognitive impairment, short stature	1	1	Johan den Dunnen
00050538	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure	1	1	Johan den Dunnen
00090779	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090780	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090781	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090782	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090783	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090784	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090785	-	-	gene panel study on controls	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	Healthy/Control	-	1	2	Melissa DeRycke

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Global Variome shared LOVD

SMAD4 (SMAD family member 4)