Global Variome shared LOVD
NTRK1 (neurotrophic tyrosine kinase, receptor, type 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curators:
Global Variome, with Curator vacancy
and
Johan den Dunnen
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View all diseases associated with gene NTRK1
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All individuals with variants in gene NTRK1
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.
165 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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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
00000009
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000026
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000063
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00036403
-
-
-
-
-
Germany
-
-
-
-
-
?
azoospermia
1
1
Andreas Laner
00036404
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036405
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036406
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036407
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036408
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036409
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036410
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036411
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036412
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036413
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036414
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036415
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036416
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036417
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00036418
-
-
-
-
-
Germany
-
-
-
-
-
-
-
1
1
Andreas Laner
00079675
-
-
-
M
no
Cambodia
white
-
-
-
-
CIPA
-
1
1
Samiha Shaikh
00079676
-
-
-
F
no
-
white
-
-
-
-
CIPA
-
2
1
Samiha Shaikh
00079677
-
-
Sib pair female and male
F;M
yes
-
Pakistani
-
-
-
-
CIPA
-
1
1
Samiha Shaikh
00079678
-
-
-
M
no
-
Pakistani
-
-
-
-
CIPA
-
1
1
Samiha Shaikh
00079679
-
-
-
M
yes
-
Turkish
-
-
-
-
CIPA
-
1
1
Samiha Shaikh
00079712
-
-
-
M
yes
-
Indian
-
-
-
-
CIPA
-
1
1
Samiha Shaikh
00079713
-
-
-
M
yes
-
Indian
-
-
-
-
CIPA
-
1
1
Samiha Shaikh
00081022
-
PubMed: Trujillano 2017
unaffected parents
-
-
-
-
-
-
-
-
CIPA
Insensitivity to pain, congenital, with anhidrosis (OMIM:256800)
1
1
Daniel Trujillano
00217168
11310631-PatV2
PubMed: Houlden 2001
5-generation family, 1 affected, unaffected carriers
M
yes
Pakistan
-
-
-
-
-
CIPA
-
4
1
Johan den Dunnen
00217169
18657423-Pat
PubMed: Wieczorek 2008
-
-
no
Sweden
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217170
19618435-Pat2
PubMed: Lee 2009
-
-
-
Korea
-
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217171
11668614-KI113
PubMed: Indo 2001
-
M
-
Italy
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217172
11668614-KI111
PubMed: Indo 2001
-
F
-
Kuwait
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217173
-
PubMed: Ohto 2004
-
F
-
Japan
-
-
-
-
-
CIPA
frequent bone fractures, absent sweating
2
1
Johan den Dunnen
00217174
12949319-Pat
PubMed: Bonkowsky 2001
-
M
-
United States
white
-
-
-
-
CIPA
ooth loss, palmarhperkeratosis
2
1
Peikuan Cong
00217175
08696348-KI01
PubMed: Indo 1996
2-generation family, 1 affected
F
-
Japan
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217176
18077166-ER21691
PubMed: Huehne 2008
3-generation family, 1 affected
-
no
France
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217177
18077166-ER16407
PubMed: Huehne 2008
4-generation family, 3 affecteds
-
yes
Turkey
-
-
-
-
-
CIPA
-
1
3
Johan den Dunnen
00217178
08696348-KI02
PubMed: Indo 1996
2-generation family, 1 affected
F
-
Japan
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217179
10233776-Pat
PubMed: Yotsumoto 1999
5-generation family, 2 affecteds
-
yes
Japan
-
-
-
-
-
CIPA
-
1
2
Johan den Dunnen
00217180
19651702-CMT841.01
PubMed: Rotthier 2009
patient and affected sibling
-
-
Netherlands
Moroccan
-
-
-
-
CIPA
-
1
2
Johan den Dunnen
00217182
10330344-KI107
PubMed: Mardy 1999
-
-
no
Italy
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217183
11139246-Pat
PubMed: Bodzioch 2000
3-generation family, 1 affected
M
-
Poland
-
-
-
-
-
CIPA
-
5
1
Peikuan Cong
00217185
08696348-PatX
PubMed: Indo 1996
2nd patient
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217186
10861667-Fam
PubMed: Shatzky 2000
8 different families
-
-
Israel
Bedouin
-
-
-
-
CIPA
-
1
8
Peikuan Cong
00217187
16373086-PN1192.3
PubMed: Verpoorten 2005
,
PubMed: Rotthier 2009
-
F
yes
Netherlands
Moroccan
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217188
10330344-KI104
PubMed: Mardy 1999
2-generation family, 1 affected, unaffected carrier parents
M
yes
Spain
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217189
10330344-KI103
PubMed: Mardy 1999
2-generation family, 2 affecteds, unaffected carrier parents/2 brothers
F
yes
Kuwait
-
-
-
-
-
CIPA
-
1
2
Peikuan Cong
00217191
20647579-Pat
PubMed: Lin 2010
2-generation family, 1 affected, unaffected parents
-
-
Taiwan
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217192
10330344-KI105
PubMed: Mardy 1999
2-generation family, 2 affected sisters, unaffected carrier parents/sister
F
yes
Kuwait
-
-
-
-
-
CIPA
-
1
2
Peikuan Cong
00217193
18162686-Pat
PubMed: Shalimar 2007
3-generation family, 3 affecteds
-
-
Malaysia
-
-
-
-
-
CIPA
-
4
3
Peikuan Cong
00217194
11668614-KI25
PubMed: Indo 2001
-
F
-
Japan
-
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217195
18077166-ER16901
PubMed: Huehne 2008
2-generation family, 1 affected
-
no
Germany
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217196
18077166-ER21357
PubMed: Huehne 2008
2-generation family, 2 affecteds, unaffected carrier parents/2 brothers
-
yes
Turkey
-
-
-
-
-
CIPA
-
1
2
Peikuan Cong
00217197
19618435-Pat1
PubMed: Lee 2009
-
-
-
Korea
-
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217198
11668614-KI114
PubMed: Indo 2001
-
F
-
Italy
-
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217199
11668614-KI116
PubMed: Indo 2001
-
F
-
Netherlands
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217201
18322713-NG46
PubMed: Tuysuz 2008
3-generation family, 1 affected
-
yes
Turkey
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217202
10090906-Pat1
PubMed: Greco 1999
2-generation family, 1 affected
M
-
Italy
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217203
18322713-NG72
PubMed: Tuysuz 2008
4-generation family, 1 affected
-
yes
Turkey
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217204
10330344-KI102
PubMed: Mardy 1999
2-generation family, 1 affected, unaffected carrier parents
M
yes
United Arab Emirates
-
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217205
10330344-KI106
PubMed: Mardy 1999
2-generation family, 1 affected, unaffected carrier parents
F
yes
Italy
-
-
-
-
-
CIPA
-
3
1
Peikuan Cong
00217206
19618435-Pat3
PubMed: Lee 2009
-
-
-
Korea
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217207
18322713-NG48
PubMed: Tuysuz 2008
3-generation family, 1 affected
-
yes
Turkey
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217208
18322713-NG51
PubMed: Tuysuz 2008
3-generation family, 1 affected
-
yes
Turkey
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217209
11668614-KI109
PubMed: Indo 2001
-
M
-
Kuwait
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217210
16373086-CMT179.1
PubMed: Verpoorten 2005
,
PubMed: Rotthier 2009
-
M
-
Belgium
-
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217211
10330344-KI108
PubMed: Mardy 1999
-
-
no
Canada
Czech;UK-German
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217212
18077166-ER20374
PubMed: Huehne 2008
-
-
no
Germany
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217214
08696348-GM08382
PubMed: Indo 1996
2-generation family, 2 affected brothers (GM08382, GM08383)
M
-
Ecuador
-
-
-
-
-
CIPA
-
1
2
Johan den Dunnen
00217217
10861667-Pat
PubMed: Shatzky 2000
8 different patients
-
-
Israel
Bedouin
-
-
-
-
CIPA
-
1
8
Peikuan Cong
00217218
10861667-con
PubMed: Shatzky 2000
-
-
-
Israel
Bedouin
-
-
-
-
?
-
1
1
Peikuan Cong
00217219
10861667-con
PubMed: Shatzky 2000
-
-
-
Israel
Bedouin
-
-
-
-
?
-
1
1
Peikuan Cong
00217220
10861667-FamNor
PubMed: Shatzky 2000
-
-
-
Israel
Bedouin
-
-
-
-
CIPA
-
1
1
Peikuan Cong
00217221
10861667-con
PubMed: Shatzky 2000
-
-
-
Israel
Bedouin
-
-
-
-
?
-
1
1
Peikuan Cong
00217222
10982191-KI03
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217223
10982191-KI04
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217224
10982191-KI05
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217225
10982191-KI06
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217226
10982191-KI07
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217227
10982191-KI08
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217228
10982191-KI09
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217229
10982191-KI10
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217230
10982191-KI11
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217231
10982191-KI12
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Peikuan Cong
00217232
10982191-KI13
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217233
10982191-KI14
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217234
10982191-KI15
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217235
10982191-KI16
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217236
10982191-KI17
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217237
10982191-KI18
PubMed: Miura 2000
,
OMIM:var0007
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217238
10982191-KI19
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217239
10982191-KI20
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217240
10982191-KI21
PubMed: Miura 2000
2-generation family, 1 affected
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217241
10982191-KI22
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
1
1
Johan den Dunnen
00217242
10982191-KI23
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
CIPA
-
2
1
Johan den Dunnen
00217243
10982191-con
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
?
-
1
5
Johan den Dunnen
00217244
10982191-con
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
?
-
1
2
Johan den Dunnen
00217245
10982191-con
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
?
-
1
97
Johan den Dunnen
00217246
10982191-con
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
?
-
1
55
Johan den Dunnen
00217247
10982191-con
PubMed: Miura 2000
-
-
-
Japan
-
-
-
-
-
?
-
1
42
Johan den Dunnen
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