Global Variome shared LOVD
PEX6 (peroxisomal biogenesis factor 6)
LOVD v.3.0 Build 27 [
Current LOVD status
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Curator:
Nancy Braverman
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View all diseases associated with gene PEX6
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All individuals with variants in gene PEX6
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.
176 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
« First
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00050127
-
article in revision at "Human Mutation"
-
-
yes
Egypt
-
-
0
-
-
PBD
-
1
2
Hanno Bolz
00051496
-
F131
-
F
yes
Turkey
-
-
0
-
-
PBD4B
PBD-4B (Moderate)
1
1
Claire Guissart
00051497
-
F131
-
M
yes
Turkey
-
-
0
-
-
PBD4B
PBD-4B (moderate)
1
1
Claire Guissart
00065273
Fam5PatII2
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents
F
no
United Kingdom (Great Britain)
-
>21y
0
-
-
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:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)
2
2
Jamie Zeegers
00065274
Fam5PatII3
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
-
F
no
United Kingdom (Great Britain)
-
>16y
0
-
-
HMLR1
Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), severe sensorineural hearing impairment (HP:0008625), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)
2
1
Jamie Zeegers
00065275
Fam6PatII1
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
2-generation family, twin sisters, unaffected heterozygous carrier parents
F
no
United Kingdom (Great Britain)
-
>21y
0
-
-
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), no macular dystrophy (HP:0007754)
2
2
Jamie Zeegers
00065276
Fam6PatII2
PubMed: Ratbi 2015
,
Journal: Ratbi 2015
-
F
no
United Kingdom (Great Britain)
-
>21y
0
-
-
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), no macular dystrophy (HP:0007754)
2
1
Jamie Zeegers
00080829
-
PubMed: Trujillano 2017
unaffected parents
-
-
-
-
-
0
-
-
PBD4A
Peroxisomebiogenesis disorder 4A (OMIM:614862)
1
1
Daniel Trujillano
00208599
Fam301
-
-
-
-
-
-
-
0
-
-
cancer, colon
-
1
3
Xiang Jiao
00282363
-
PubMed: Nobukuni 1996
,
PubMed: Lalwani 1998
,
PubMed: Xiong 2015
-
-
-
-
-
-
0
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00283299
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283301
-
PubMed: Xiong 2015
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283302
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283305
Pat713
PubMed: Yik 2009
-
-
-
United States
-
-
0
-
-
PBD
-
2
1
Global Variome, with Curator vacancy
00283306
Pat720
PubMed: Yik 2009
-
-
-
United States
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283307
Pat609
PubMed: Yik 2009
-
-
-
United States
-
-
0
-
-
PBD
-
2
1
Global Variome, with Curator vacancy
00283308
FamPatII1
PubMed: Raas-Rothschild 2002
2-generation family, 3 affected, parents and son; son
M
-
Israel
Algeria;Jewish-Ashkenazi;Jewish-Yemenite
-
0
-
-
PBD
see paper; ...
2
3
Nancy Braverman
00283309
-
PubMed: Xiong 2015
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283310
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283311
C-05
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
2
1
Nancy Braverman
00283312
C-14
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283313
PBD106
PubMed: Yahraus 1996
-
-
-
-
-
-
0
-
-
PBD
-
2
1
Global Variome, with Curator vacancy
00283314
PBD6-01
PubMed: Matsumoto 2001
-
-
-
Japan
-
-
0
-
-
PBD
-
3
1
Nancy Braverman
00283317
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283321
-
PubMed: Krause 2009
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Johan den Dunnen
00283323
PatII1m
PubMed: Raas-Rothschild 2002
mother
F
-
Israel
Algeria;Jewish-Ashkenazi
-
0
-
-
PBD
see paper; ...
3
1
Nancy Braverman
00283324
-
PubMed: Krause 2009
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Johan den Dunnen
00283332
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283334
-
PubMed: Grunert 2014
-
-
-
-
-
-
0
-
-
?
-
1
1
Global Variome, with Curator vacancy
00283335
PatII1f
PubMed: Raas-Rothschild 2002
father
M
-
Israel
Yemenite;Jewish
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00283338
C-03
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283339
-
PubMed: Najmabadi 2011
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283346
-
PubMed: Bean 2013
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283348
C-10
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283351
Pat2
PubMed: Fukuda 1996
-
F
-
Japan
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283352
-
PubMed: Ebberink 2010
,
PubMed: Xiong 2015
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283353
-
PubMed: Xiong 2015
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283354
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283355
Pat710
PubMed: Yik 2009
-
-
-
United States
-
-
0
-
-
PBD
-
3
1
Global Variome, with Curator vacancy
00283356
C-09
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283361
C-15
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283362
-
PubMed: Matsumoto 2001
,
PubMed: Levesque 2012
-
-
-
-
-
-
0
-
-
?
-
1
1
Global Variome, with Curator vacancy
00283363
C-07
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283364
-
-
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283365
-
PubMed: Bean 2013
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00283367
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283368
-
PubMed: Richards 2015
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00283372
-
PubMed: Al-Gazali 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283374
C-02
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283376
Pat1/GM04340
PubMed: Fukuda 1996
-
-
yes
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283377
-
PubMed: Grunert 2014
-
-
-
-
-
-
0
-
-
?
-
1
1
Global Variome, with Curator vacancy
00283378
C-12
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283379
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283380
controls
PubMed: Steinberg 2004
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00283381
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
2
1
Global Variome, with Curator vacancy
00283382
C-13
PubMed: Zhang 1999
-
-
-
Japan
-
-
0
-
-
PBD
-
2
1
Global Variome, with Curator vacancy
00283384
C-11
PubMed: Imamura 2000
-
-
-
Japan
-
-
0
-
-
PBD
-
1
1
Nancy Braverman
00283385
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
-
1
1
Global Variome, with Curator vacancy
00283386
controls
PubMed: Steinberg 2004
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00289433
-
-
-
F
-
-
-
-
0
-
-
?
Muscular hypotonia (HP:0001252); Multicystic kidney dysplasia (HP:0000003); Syndactyly (HP:0001159); Seizures (HP:0001250); Failure to thrive (HP:0001508); Retrognathia (HP:0000278); Low-set ears (HP:0000369); Hypertelorism (HP:0000316); Joint hypermobility (HP:0001382); Rocker bottom foot (HP:0001838)
1
1
IMGAG
00294108
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
138
Mohammed Faruq
00294109
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
1
Mohammed Faruq
00294110
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
10
Mohammed Faruq
00305102
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
2
Mohammed Faruq
00309298
-
PubMed: Sharon 2019
3 IRD families
-
-
Israel
-
-
0
-
-
retinal disease
-
1
3
Global Variome, with Curator vacancy
00310099
patient
PubMed: Konkolova 2015
2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
M
-
Slovakia (Slovak Republic)
white
-
0
-
-
PBD
see paper; ...
2
1
Johan den Dunnen
00310104
Pat1
PubMed: Falkenberg 2017
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
2
1
Johan den Dunnen
00310105
Pat2
PubMed: Falkenberg 2017
2-generation family, 1 affected, unaffected heterozygous carrier mother/half-brother
-
-
-
-
-
0
-
-
PBD
see paper; ...
2
2
Johan den Dunnen
00310106
Pat3
PubMed: Falkenberg 2017
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
2
1
Johan den Dunnen
00310107
Pat4
PubMed: Falkenberg 2017
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
2
1
Johan den Dunnen
00310108
Pat5
PubMed: Falkenberg 2017
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
2
1
Johan den Dunnen
00310109
Pat6
PubMed: Falkenberg 2017
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
2
1
Johan den Dunnen
00310110
Pat7
PubMed: Falkenberg 2017
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
2
1
Johan den Dunnen
00310111
Pat2m
PubMed: Falkenberg 2017
mother Pat2
F
-
-
-
-
0
-
-
Healthy/Control
-
4
1
Johan den Dunnen
00310113
-
PubMed: Krause 2009
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310114
-
PubMed: Krause 2009
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310115
-
PubMed: Krause 2009
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310116
-
PubMed: Krause 2009
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310117
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310118
-
-
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310120
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310121
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310122
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310123
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310124
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Nancy Braverman
00310127
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310129
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310130
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
2
1
Nancy Braverman
00310131
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310132
patient
-
-
-
-
-
-
-
0
-
-
PBD
see paper; ...
3
1
Nancy Braverman
00310133
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310134
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
2
1
Nancy Braverman
00310136
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310137
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
2
1
Nancy Braverman
00310138
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
2
1
Nancy Braverman
00310139
patient
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
3
1
Nancy Braverman
00310140
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
2
1
Nancy Braverman
00310141
-
-
-
-
-
United States
-
-
0
-
-
PBD
see paper; ...
1
1
Nancy Braverman
00310142
-
-
-
-
-
United States
-
-
0
-
-
Healthy/Control
-
1
1
Nancy Braverman
00310143
-
PubMed: Ebberink 2010
-
-
-
-
-
-
0
-
-
Healthy/Control
-
1
1
Nancy Braverman
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