All individuals with variants in gene PEX1

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:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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.

357 entries on 4 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00065231	26387595-Fam1PatII3	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F	-	Morocco	-	>16y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754)	1	2	Jamie Zeegers
00065261	26387595-Fam1PatII4	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	M	-	Morocco	-	>12y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754)	1	1	Jamie Zeegers
00065263	26387595-Fam2Pat1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	no	United States	-	>31y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), macular dystrophy (HP:0007754)	2	2	Jamie Zeegers
00065265	26387595-Fam2PatII2	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	F	no	United States	-	>29y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), macular dystrophy (HP:0007754)	2	1	Jamie Zeegers
00065270	26387595-Fam3PatII1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Ireland	-	>19y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597)	2	1	Jamie Zeegers
00065272	26387595-Fam4PatII1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	>24y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)	2	1	Jamie Zeegers
00072281	-	-	Parent of Heimler Syndrome patient	F	?	Morocco	-	-	-	-	Healthy/Control	Unaffected	1	5	Glenda Beaman
00072283	-	-	Parent of Heimler Syndrome patient	M	?	Morocco	-	-	-	-	Healthy/Control	Unaffected parent of Heimler Syndrome patient	1	1	Glenda Beaman
00072284	-	-	-	F	yes	Morocco	-	-	-	-	Healthy/Control	Unaffected sibling of Heimler Syndrome patient	1	1	Glenda Beaman
00072285	-	-	-	M	yes	Morocco	-	-	-	-	Healthy/Control	Unaffected sibling of Heimler Syndrome patient	1	1	Glenda Beaman
00072286	-	-	-	F	yes	Morocco	-	-	-	-	HMLR1	Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597)	1	1	Glenda Beaman
00081019	-	Trujillano et al., submitted	unaffected parents	-	-	-	-	-	-	-	PBD1A	Peroxisome biogenesis disorder 1A (Zellweger) (OMIM:214100)	1	1	Daniel Trujillano
00269115	-	-	-	F	-	-	-	-	-	-	?	Large fontanelles (HP:0000239); Low-set ears (HP:0000369); Deviation of finger (HP:0004097); Depressed nasal bridge (HP:0005280); Abnormality of the face (HP:0000271); Hypertelorism (HP:0000316); Abnormality of the hand (HP:0001155); Talipes equinovarus (HP:0001762); Wide cranial sutures (HP:0010537); Muscular hypotonia (HP:0001252)	1	1	Andreas Laner
00269902	-	-	-	?	-	-	-	-	-	-	?	Neonatal death (HP:0003811)	1	1	IMGAG
00283619	Pat719	PubMed: Yik 2009	-	-	-	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283620	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283621	Pat627	PubMed: Yik 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283622	-	PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011,	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283623	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283624	-	, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283625	-	PubMed: Rosewich 2005, PubMed: Steinberg 1993	-	-	-	-	-	-	-	-	PBD	zellweger syndrome	1	1	Global Variome, with Curator vacancy
00283626	-	PubMed: Rosewich 2005, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283627	-	PubMed: Rosewich 2005, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283628	-	PubMed: Reuber 1997, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283630	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283631	-	PubMed: Rosewich 2005	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283632	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283633	-	PubMed: Mohebbi 2012	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283634	Pat616	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283636	-	PubMed: Maxwell 2002, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283637	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283639	-	PubMed: Steinberg 1993, PubMed: Walter 2001, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283640	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283641	-	PubMed: Steinberg 1993, PubMed: Portsteffen 1997, PubMed: Ebberink 2011, PubMed: Steinberg 2004, PubMed: Reuber 1997, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283642	-	PubMed: Rosewich 2005, , PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Steinberg 2004, PubMed: Maxwell 2002, PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283643	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283646	Pat604	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283648	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283649	-	PubMed: Steinberg 1993, PubMed: Walter 2001	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283653	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283654	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283656	-	PubMed: Rosewich 2005, PubMed: Gärtner 1999, PubMed: Waterham 2012, PubMed: Weleber 1993, PubMed: Walter 2001 1997, PubMed: Bean 2013 1998, PubMed: Portsteffen 1997, PubMed: Reuber 1997, PubMed: Steinberg 1993, PubMed: Steinberg 2006 2001, 2005,	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283657	-	PubMed: Reuber 1997	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283659	-	PubMed: Maxwell 2005, PubMed: Steinberg 1993	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283660	-	PubMed: Rosewich 2005	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283661	-	PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Collins 1999, PubMed: Ebberink 2011, PubMed: Crane 2005, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283662	-	PubMed: Maxwell 2002, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283664	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283665	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283666	-	PubMed: Ebberink 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283667	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283669	-	PubMed: Steinberg 1993, PubMed: Bean 2013, PubMed: Reuber 1997, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006, PubMed: Collins 1999, PubMed: Ratbi 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283671	-	PubMed: Rosewich 2005	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283672	-	PubMed: Walter 2001, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283673	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283675	-	PubMed: Steinberg 1993, PubMed: Tamura 1998, PubMed: Tamura 2001	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283676	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283677	-	PubMed: Reuber 1997	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283678	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283679	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283680	-	, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283681	-	PubMed: Tamura 2001, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283682	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283683	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283684	-	PubMed: Rosewich 2005	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283685	Pat716	PubMed: Yik 2009	-	-	-	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283686	-	PubMed: Walter 2001, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283687	-	, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283689	-	PubMed: Steinberg 1993, PubMed: Ebberink 2011,	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283694	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283696	-	PubMed: Steinberg 1993, PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283697	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283698	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283699	-	PubMed: Ebberink 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283700	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283702	-	, PubMed: Ratbi 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283704	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283706	-	PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283709	-	PubMed: Sun 2013, PubMed: Steinberg 1993,	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283710	-	PubMed: Tamura 2001, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283711	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283712	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283713	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283714	-	PubMed: Rosewich 2005, PubMed: Steinberg 1993,	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283715	-	PubMed: Ebberink 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283716	-	PubMed: Ebberink 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283717	-	, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283718	-	PubMed: Sun 2013	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283719	-	, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283721	-	PubMed: Fromer 2014	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283723	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283724	-	PubMed: Rosewich 2005	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283725	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283726	-	PubMed: Ebberink 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283727	Pat707	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283728	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283729	-	PubMed: Ebberink 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283730	-	PubMed: Thoms 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283733	-	PubMed: Steinberg 1993, PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00289016	Fam23P27	PubMed: Karali 2019, Journal: Karali 2019	-	F	no	Italy	-	-	-	-	retinal disease	RP, night blindness, pericentral field loss	2	1	Sandro Banfi

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

Global Variome shared LOVD

PEX1 (peroxisomal biogenesis factor 1)