Disease #05288 (DIAR (diarrhea (DIAR)))

Official abbreviation	DIAR
Name	diarrhea (DIAR)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	91
Phenotype entries for this disease	91
Associated with 2 genes	ACSL5, WNT2B
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-06-23 13:12:10 +02:00 (CEST)
Date last edited	N/A

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'

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.

91 entries on 1 page. Showing entries 1 - 91.

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
00164236	P1	Sivagnanam 2008	-	M	no	-	Mexican-American	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164237	P2	Sivagnanam 2008	-	M	no	-	Mexican-American	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164238	-	Sivagnanam 2008	-	M	yes	Canada	Native Canadian	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164239	-	Sivagnanam 2008; Schnell 2013	-	M	no	Russia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164240	1	Al Mayouf 2009	-	M	yes	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164241	2	Al Mayouf 2009	-	M	yes	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164242	3	Al Mayouf 2009	-	F	yes	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164243	4	Al Mayouf 2009	-	F	yes	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164244	1	Sivagnanam 2010	-	F	yes	Pakistan	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164245	1,1	Ko 2010	-	F	no	Korea, South (Republic)	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	2	Mamata Sivagnanam
00164246	1,2	Ko 2010	-	M	no	Korea, South (Republic)	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164247	Family 1 II.1	Salomon 2011	-	M	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164248	Family 2 II.1	Salomon 2011	-	M	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164249	Family 2 II.2	Salomon 2011	-	F	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164250	Family 3 II.1	Salomon 2011	-	F	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164251	Family 4 II.1	Salomon 2011	-	F	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164252	Family 5 II.1	Salomon 2011	-	M	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164253	Family 5 II.3	Salomon 2011	-	M	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164254	Family 6 IV.3	Salomon 2011	-	F	yes	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164255	Family 6 IV.5	Salomon 2011	-	F	no	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164256	Family 7 II.1	Salomon 2011	-	M	yes	Qatar	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164257	Family 7 II.5	Salomon 2011	-	F	yes	Qatar	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164258	1	Shakhnovic 2014	-	M	no	-	white	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164259	1	Theoni 2014	-	F	yes	-	East Africa	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164260	1	Salomon 2014	-	F	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164261	2	Salomon 2014	-	F	-	Turkey	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164262	3	Salomon 2014	-	M	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164263	4	Salomon 2014	-	M	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164264	5	Salomon 2014	-	F	-	Sri Lanka	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164265	6	Salomon 2014	-	M	-	Mali	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164266	7,1	Salomon 2014	-	M	-	Morocco	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164267	7,2	Salomon 2014	-	M	-	Morocco	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164268	8	Salomon 2014	-	M	-	Algeria	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164269	9	Salomon 2014	-	F	-	Algeria	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164270	10	Salomon 2014	-	F	-	Egypt	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164271	11	Salomon 2014	-	M	-	France	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164272	12	Salomon 2014	-	M	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164273	13	Salomon 2014	-	F	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164274	14,1	Salomon 2014	-	F	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	2	Mamata Sivagnanam
00164275	14,2	Salomon 2014	-	M	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164276	15	Salomon 2014	-	F	-	France	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164277	16	Salomon 2014	-	F	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164278	17,1	Salomon 2014	-	M	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164279	17,2	Salomon 2014	-	F	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164280	18	Salomon 2014	-	F	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164281	19,1	Salomon 2014	-	M	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164282	19,2	Salomon 2014	-	M	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164283	20,1	Salomon 2014	-	F	-	Qatar	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164284	20,2	Salomon 2014	-	M	-	Qatar	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164285	21	Salomon 2014	-	M	-	Kuwait	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164286	22	Salomon 2014	-	M	-	Turkey	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164287	23	Salomon 2014	-	F	-	Turkey	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164288	24	Salomon 2014	-	F	-	Morocco	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164289	25	Salomon 2014	-	M	-	Morocco	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164290	26	Salomon 2014	-	F	-	Algeria	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164291	27	Salomon 2014	-	F	-	Algeria	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164292	28	Salomon 2014	-	M	-	Portugal	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164293	29	Salomon 2014	-	M	-	Morocco	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164294	30,1	Salomon 2014	-	F	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	2	Mamata Sivagnanam
00164295	30,2	Salomon 2014	-	M	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164296	31	Salomon 2014	-	M	-	Turkey	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164297	32	Salomon 2014	-	M	-	Turkey	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164298	33	Salomon 2014	-	F	-	Algeria	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164299	1	Pegas 2014	-	F	-	Brazil	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164300	1	d'Apolito 2016	-	M	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164301	2	d'Apolito 2016	-	M	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164302	3	d'Apolito 2016	-	F	-	Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164303	1	Tang 2016	-	F	no	China	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164304	1	AlMahamed 2017	-	M	yes	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164305	2	AlMahamed 2017	-	F	yes	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164306	3	AlMahamed 2017	-	M	no	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164307	4	AlMahamed 2017	-	M	yes	Saudi Arabia	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164308	1	Sivagnanam, submitted	-	M	-	-	white	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164309	2	Sivagnanam, submitted	-	F	-	Palestine	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164310	3	Sivagnanam, submitted	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164311	4	Sivagnanam, submitted	-	M	-	United Kingdom (Great Britain);Italy	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164312	5,1	Sivagnanam, submitted	-	M	-	Bangladesh	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	2	Mamata Sivagnanam
00164313	5,2	Sivagnanam, submitted	-	M	-	Bangladesh	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164314	6	Sivagnanam, submitted	-	M	-	-	Hispanic	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164315	7	Sivagnanam, submitted	-	-	-	Pakistan	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164316	8	Sivagnanam, submitted	-	F	-	Turkey	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164317	9,1	Sivagnanam, submitted	-	M	-	Israel	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	2	Mamata Sivagnanam
00164318	9,2	Sivagnanam, submitted	-	F	-	Israel	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164319	10	Sivagnanam, submitted	-	M	-	Iraq	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164320	11,1	Sivagnanam, submitted	-	M	-	-	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	2	Mamata Sivagnanam
00164321	11,2	Sivagnanam, submitted	-	M	-	-	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	2	1	Mamata Sivagnanam
00164322	12	Sivagnanam, submitted	-	F	-	-	Hispanic	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00164323	-	Sivagnanam, submitted	-	M	-	Turkey	-	-	-	-	-	DIAR	-	EPCAM	EPCAM	1	1	Mamata Sivagnanam
00314932	FamPat1	PubMed: O'Connell 2018, Journal: O'Connell 2018	2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives	M	-	Kuwait	-	-	-	-	-	DIAR	see paper; severe neonatal-onset osmotic diarrhea, ...	WNT2B	WNT2B	1	2	Johan den Dunnen
00314933	FamPat2	PubMed: O'Connell 2018, Journal: O'Connell 2018	sister	F	-	Kuwait	-	-	-	-	-	DIAR	see paper; severe neonatal-onset osmotic diarrhea, ...	WNT2B	WNT2B	1	1	Johan den Dunnen
00314934	Pat3	PubMed: O'Connell 2018, Journal: O'Connell 2018	-	M	-	Viet Nam	-	-	-	-	-	DIAR	see paper; severe neonatal-onset osmotic diarrhea, ...	WNT2B	WNT2B	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

SLC39A5 (solute carrier family 39 (metal ion trans...))