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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00000208 |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
0 |
- |
- |
CHTE |
central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) |
1 |
1 |
Yu Sun |
00002998 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
low frequency hearing loss |
1 |
1 |
Marcel Nelen |
00037405 |
- |
- |
- |
- |
- |
Germany |
- |
- |
0 |
- |
- |
WFSL |
- |
1 |
1 |
Andreas Laner |
00037406 |
- |
- |
- |
- |
- |
Germany |
- |
- |
0 |
- |
- |
OPA |
Optikusatrophie bilateral, inner ear hearing loss bilateral |
1 |
1 |
Andreas Laner |
00037407 |
- |
- |
- |
- |
- |
Germany |
- |
- |
0 |
- |
- |
OPA |
suspected hereditary Optikusatrophie, family history positive |
1 |
1 |
Andreas Laner |
00037408 |
- |
- |
- |
- |
- |
Germany |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00059150 |
- |
PubMed: Sommen 2016, Journal: Sommen 2016 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
DFNB;ARNSHL |
- |
1 |
1 |
Manou Sommen |
00060255 |
- |
PubMed: Brownstein 2011, Journal: Brownstein 2011 |
3-generation family, 3 affecteds (2F, 3M) |
F;M |
no |
Israel |
Jewish-Ashkenazi |
- |
0 |
- |
- |
DFNA1 |
DFNA-6/14/38; congenital NSHL, low-tone, U-shaped audiogram |
1 |
5 |
Zippi Brownstein |
00079998 |
- |
PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deafness |
- |
1 |
1 |
Mieke Wesdorp |
00080014 |
- |
PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deafness |
- |
1 |
1 |
Mieke Wesdorp |
00080040 |
- |
PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deafness |
- |
1 |
1 |
Mieke Wesdorp |
00080141 |
- |
PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
deafness |
- |
1 |
1 |
Mieke Wesdorp |
00144156 |
- |
PubMed: Katagiri 2014 |
index patient |
F |
no |
Japan |
Japanese |
- |
0 |
- |
- |
retinal disease |
- |
1 |
1 |
Rob W.J. Collin |
00164351 |
Jansen et al. Patient 13 |
Jansen, submitted |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ID |
hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750) |
1 |
1 |
Lisenka Vissers |
00210168 |
- |
- |
- |
F |
- |
Germany |
- |
- |
0 |
- |
- |
- |
HP:0012372 (Abnormal eye morphology); HP:0012373 (Abnormal eye physiology); HP:0000505 (Visual impairment); HP:0000648 (Optic atrophy) |
1 |
1 |
Andreas Laner |
00282473 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282474 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282475 |
- |
PubMed: Tranebjærg 1993, PubMed: Franks 2008, PubMed: Sandhu 2007, PubMed: Ohata 1998, PubMed: Duzkale 2013, PubMed: Fawcett 2010 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282476 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282477 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282478 |
- |
PubMed: Gómez-Zaera 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282479 |
- |
PubMed: Chaussenot 2011, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282480 |
- |
PubMed: Rigoli 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282481 |
- |
PubMed: Zalloua 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282482 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282483 |
- |
PubMed: Giuliano 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282484 |
- |
PubMed: Khanim 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282485 |
- |
PubMed: Smith 2004, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282486 |
- |
PubMed: Khanim 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282487 |
- |
PubMed: Hardy 1999, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282488 |
- |
PubMed: Gómez-Zaera 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282489 |
- |
PubMed: Marshall 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282490 |
- |
PubMed: Strom 1998 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282491 |
- |
PubMed: Chaussenot 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282492 |
- |
PubMed: Gasparin 2009 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282493 |
- |
PubMed: Gonçalves 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
HL |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282494 |
- |
PubMed: Zenteno 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282495 |
- |
PubMed: Lombardo 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282496 |
- |
PubMed: Colosimo 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282497 |
- |
PubMed: Matsunaga 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282498 |
- |
PubMed: Matsunaga 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282499 |
- |
PubMed: Hansen 2005, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282500 |
- |
PubMed: Strom 1998 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282501 |
- |
PubMed: Marshall 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282502 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282503 |
- |
PubMed: van ven Ouweland 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282504 |
- |
PubMed: Cano 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282505 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282506 |
- |
PubMed: Khanim 2001, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282507 |
- |
PubMed: Tranebjærg 1993, PubMed: Strom 1998, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282508 |
- |
PubMed: Fogel 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282509 |
- |
PubMed: Fogel 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282510 |
- |
PubMed: Marshall 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282511 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282512 |
- |
PubMed: Fogel 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282513 |
- |
PubMed: Rohayem 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282514 |
- |
PubMed: Chaussenot 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282515 |
- |
PubMed: Matsunaga 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282516 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282517 |
- |
PubMed: Matsunaga 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282518 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282519 |
- |
PubMed: Hardy 1999, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282520 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282521 |
- |
PubMed: Giuliano 2005, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282522 |
- |
PubMed: Richards 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282523 |
- |
PubMed: Domènech 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282524 |
- |
PubMed: Tranebjærg 1993, PubMed: Shearer 1993, PubMed: Richards 2015, PubMed: Shu 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282525 |
- |
PubMed: Hardy 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282526 |
- |
PubMed: Cano 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282527 |
- |
PubMed: Gasparin 2009 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282528 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282529 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282530 |
- |
PubMed: Hardy 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282531 |
- |
PubMed: Hardy 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282532 |
- |
PubMed: Miyagawa 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
deafness |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282533 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282534 |
- |
PubMed: Hansen 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282535 |
- |
PubMed: Hansen 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282536 |
- |
PubMed: Bonnycastle 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
diabetes |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282537 |
- |
PubMed: Chaussenot 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282538 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282539 |
- |
PubMed: Smith 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282540 |
- |
PubMed: Hofmann 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282541 |
- |
PubMed: Eller 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282542 |
- |
PubMed: Cano 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282543 |
- |
PubMed: Chaussenot 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282544 |
- |
PubMed: Khanim 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282545 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282546 |
- |
PubMed: Fogel 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282547 |
- |
PubMed: Hardy 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282548 |
- |
PubMed: Chaussenot 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282549 |
- |
PubMed: Strom 1998 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282550 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282551 |
- |
PubMed: Nakamura 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282552 |
- |
PubMed: Colosimo 2003, PubMed: Hofmann 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282553 |
- |
PubMed: Giuliano 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282554 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282555 |
- |
PubMed: Richards 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282556 |
- |
PubMed: Gasparin 2009 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
WFS |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00282557 |
- |
PubMed: Duzkale 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |