Disease #06973 (CAGI (calcification, arterial, generalized, infancy))

Official abbreviation	CAGI
Name	calcification, arterial, generalized, infancy
OMIM ID	-
Inheritance	-
Individuals reported having this disease	94
Phenotype entries for this disease	94
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2022-10-23 14:37:57 +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.

94 entries on 1 page. Showing entries 1 - 94.

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
00419745	-	PubMed: Ramjan 2009, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	Australia	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	3	1	Johan den Dunnen
00419746	Fam3	PubMed: Rutsch 2003, PubMed: Ramjan 2009, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	Australia	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	3	1	Johan den Dunnen
00419747	Fam6	PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419748	-	PubMed: Bellah 1992, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	-	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419749	Fam3PatA	PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	Italy	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	2	Johan den Dunnen
00419750	Fam3PatB	PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	Italy	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419751	Fam1	PubMed: Ruf 2005	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419752	Pat1;Pat13;Pat6	PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021	-	F	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419753	-	PubMed: Meng 2017	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419754	-	PubMed: Rutsch 2003, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	-	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419755	Fam8	PubMed: Ruf 2005	-	-	-	Germany	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419756	Fam2	PubMed: Rutsch 2003, PubMed: Rutsch 2008	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419759	Fam4PatIII2	PubMed: Lorenz-Depiereux 2010	son	M	-	Turkey	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419760	Fam5PatA	PubMed: Cheng 2005, PubMed: Ruf 2005, PubMed: Rutsch 2008	-	-	-	Taiwan	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	2	Johan den Dunnen
00419761	Fam5PatB	PubMed: Cheng 2005, PubMed: Ruf 2005, PubMed: Rutsch 2008	-	-	-	Taiwan	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419762	patient;Pat5;Pat11;Pat2	PubMed: Ferreira 2016, PubMed: Thumbigere-Math 018, PubMed: Ferreira2021, PubMed: Ferreira2021	-	M	-	United States	-	-	-	-	-	CAGI	infantile onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419763	patient;Pat2;Pat7;Pat12	PubMed: Schumacher 2012, PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021	-	F	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419764	Fam9PatB	PubMed: Ruf 2005	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	3	1	Johan den Dunnen
00419768	Fam6	PubMed: Rutsch 2003, PubMed: Rutsch 2008	-	-	-	Canada	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419769	-	PubMed: Rutsch 2008	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419770	family;;Fam10PatA	PubMed: Dlamini 2009, PubMed: Rutsch 2008, PubMed: Nitschke 2012, PubMed: Ruf 2005	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	2	Johan den Dunnen
00419771	family;;Fam10PatB	PubMed: Dlamini 2009, PubMed: Rutsch 2008, PubMed: Ruf 2005	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419772	-	PubMed: Tran 2006, PubMed: Rutsch 2008	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419773	Fam7	PubMed: Rutsch 2003, PubMed: Rutsch 2008	-	-	-	Canada	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419774	Fam7PatA	PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	Pakistan	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	2	Johan den Dunnen
00419775	Fam7PatB	PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016	-	-	-	Pakistan	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419776	Fam1	PubMed: Rutsch 2003, PubMed: Rutsch 2008	-	-	-	Turkey	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419777	-	PubMed: Rutsch 2008	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419778	Fam2	PubMed: Ruf 2005	-	-	-	Morocco	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419779	Fam5	PubMed: Rutsch 2003, PubMed: Rutsch 2008	-	-	-	Italy	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419780	-	PubMed: Rutsch 2008	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419781	-	PubMed: Rutsch 2008	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419783	-	PubMed: Yapicioglu-Yildzdas 2016	-	-	-	Turkey	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419784	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419785	-	PubMed: Yapicioglu-Yildzdas 2016	-	-	-	Turkey	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419788	FamAPatII1	PubMed: Staretz-Chacham 2019	2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents	M	-	Israel	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	3	Johan den Dunnen
00419789	FamAPatII2	PubMed: Staretz-Chacham 2019	sister	F	-	Israel	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419790	FamAPatII3	PubMed: Staretz-Chacham 2019	brother	M	-	Israel	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419791	FamBPatII2	PubMed: Staretz-Chacham 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Israel	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419792	-	PubMed: Numakura 2006	-	-	-	Japan	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419793	patient	PubMed: Reitter 2009	-	-	-	Turkey	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419794	-	PubMed: Brunod 2018	-	-	-	France	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419800	Pat3;FamPat3;Pat4	PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	2	Johan den Dunnen
00419801	FamPat4;Pat5	PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419802	patient	PubMed: Galetti 2011	-	-	-	Italy	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419803	patient	PubMed: Otero 2013	-	-	-	United States	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419807	Pat1	PubMed: Agarwal 2020	-	-	-	India	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419808	FamPat1;Pat8	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	infantile onset	ENPP1	ENPP1	2	2	Johan den Dunnen
00419809	FamPat2;Pat9	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	childhood onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419810	Pat5;Pat3	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419811	Pat6;Pat1	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419812	Pat7;Pat14	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419813	Pat10	PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419814	Pat12;Pat13	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419815	Pat14;Pat11	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419816	Pat15;Pat7	PubMed: Ferreira2021, PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419817	Pat16	PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	childhood onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419819	Pat16	PubMed: Ferreira2021	-	-	-	United States	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419821	patient	PubMed: Bulfamante 2021	-	M	-	Italy	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419823	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419824	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419825	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419826	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419827	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419828	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	infantile onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419829	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419830	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419831	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	1	1	Johan den Dunnen
00419832	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419833	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	3	1	Johan den Dunnen
00419834	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	infantile onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419835	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	infantile onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419836	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419837	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419838	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419839	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419840	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419844	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419845	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419846	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	infantile onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419847	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419848	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419849	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419850	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419851	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419852	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419853	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419854	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419855	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	infantile onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419856	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	2	1	Johan den Dunnen
00419859	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	neonatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419861	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	-	ENPP1	ENPP1	2	1	Johan den Dunnen
00419863	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen
00419864	-	PubMed: Mercurio 2022, Journal: Mercurio 2022	-	-	-	-	-	-	-	-	-	CAGI	antenatal onset	ENPP1	ENPP1	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

COL12A1 (collagen, type XII, alpha 1)