Disease #01700 (CTX (xanthomatosis, cerebrotendinous), OMIM:213700)

Official abbreviation	CTX
Name	xanthomatosis, cerebrotendinous
OMIM ID	213700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	103
Phenotype entries for this disease	1
Associated with 1 gene	CYP27A1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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'

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103 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00286932	-	PubMed: Segev 1995	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286933	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286934	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	3	1	Jorge Amigo Lechuga
00286935	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	3	1	Jorge Amigo Lechuga
00286936	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286937	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286938	-	{PMID 22018287: Tian 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00286939	-	-	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Susan V Smalley
00286940	-	PubMed: Wang 2006	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286941	-	{PMID 21553098: Chen 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00286942	-	PubMed: Leitersdorf 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286943	-	PubMed: Leitersdorf 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286944	-	PubMed: Leitersdorf 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286945	-	PubMed: Leitersdorf 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286946	-	PubMed: Kato 2003	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286947	-	PubMed: Verrips 1999	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286948	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286949	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286950	-	PubMed: Watts 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286951	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286952	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286953	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286954	-	PubMed: Nakashima 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286955	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286956	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286957	-	{PMID 20558929: Nozue 2010}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00286958	-	PubMed: Federico 2010	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286959	-	PubMed: Lamon-Fava 2002	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	3	1	Jorge Amigo Lechuga
00286960	-	PubMed: Verrips 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286961	-	PubMed: Verrips 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286962	-	PubMed: Wakamatsu 1999	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286963	-	PubMed: Garuti 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286964	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286965	-	PubMed: Garuti 1997	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286966	-	PubMed: Garuti 1997	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286967	-	PubMed: Federico 2010	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286968	-	PubMed: Garuti 1997	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286969	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286970	-	PubMed: Federico 2010	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286971	-	PubMed: Federico 2010	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286972	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286973	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286974	-	PubMed: Ahmed 1997	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286975	-	PubMed: Leitersdorf 1993	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286976	-	PubMed: Leitersdorf 1993	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286977	-	PubMed: Verrips 1997	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286978	-	PubMed: Verrips 1999	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286979	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286980	-	PubMed: Leitersdorf 1993	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286981	-	PubMed: Meiner 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286982	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286983	-	PubMed: Federico 2010	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286984	-	PubMed: Reshef 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286985	-	PubMed: Verrips 1999	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286986	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286987	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00286988	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286989	-	PubMed: Verrips 1999	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286990	-	PubMed: Verrips 1999	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286991	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286992	-	PubMed: Guyant-Maréchal 2005	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00286993	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00286995	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00286996	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00286997	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Pablo Sierra
00286998	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Pablo Sierra
00286999	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287000	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287001	-	{PMID 21958693: Suh 2012}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287002	-	{PMID 21958693: Suh 2012}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287003	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287004	-	PubMed: Chen 1998	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287005	-	PubMed: Cali 1991	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287006	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287007	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287008	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287009	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287010	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287011	-	PubMed: Castelnovo 2003	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287012	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287013	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287014	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287015	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287016	-	{PMID 21645175: De la Fuente 2011}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287017	-	PubMed: Chen 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287018	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287019	-	PubMed: Garuti 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287020	-	PubMed: Mak 2004	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287021	-	PubMed: Okuyama 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287022	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287023	-	PubMed: Chen 1997	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287024	-	PubMed: von Bahr 2005	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287025	-	{PMID 22336472: Koyama 2012}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287026	-	PubMed: Garuti 1996	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287027	-	PubMed: Verrips 2000	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287028	-	PubMed: Garuti 1997	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287029	-	{PMID 20925952: Schneider 2010}	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Pablo Sierra
00287030	-	PubMed: Lee 2001	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	2	1	Jorge Amigo Lechuga
00287031	-	PubMed: Kim 1994	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga
00287032	-	PubMed: Wakamatsu 1999	-	-	-	-	-	-	-	-	-	CTX	-	CYP27A1	CYP27A1	1	1	Jorge Amigo Lechuga

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Global Variome shared LOVD

CPT1A (carnitine palmitoyltransferase 1A (liver))