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
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00231267 |
Fam1 |
PubMed: Pearlman 2010 |
5-generation family, 11 affected (5F, 6M) |
F;M |
- |
France |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis (2), partial gonadal dysgenesis (4), gonadal tumors (3), first degree hypospadias with chordee (1); micropenis, cryptorchidism, perineal hypospadias (1); perineal hypospadias only (2) |
MAP3K1 |
MAP3K1 |
1 |
11 |
Johan den Dunnen |
00231268 |
Fam2 |
PubMed: Pearlman 2010 |
3-generation family, 5 affected (5F) |
F |
- |
New Zealand |
- |
- |
- |
- |
- |
DSD |
Complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
5 |
Johan den Dunnen |
00231269 |
Pat2 |
PubMed: Pearlman 2010 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
Complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231270 |
Pat1 |
PubMed: Pearlman 2010 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
Complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231271 |
patient |
PubMed: Loke 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231272 |
family |
PubMed: Loke 2014 |
3-generation family, 3 affected 46,XY females |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; …, gonadal dysgenesis, unvirilized female phenotype and dysgenetic gonads |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231273 |
RDSD014 |
PubMed: Baxter 2015 |
- |
F |
- |
United States |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231274 |
RDSD017 |
PubMed: Baxter 2015 |
- |
F |
- |
United States |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, hypoplastic partial bicornuate uterus with cervix, Fallopian tubes, bilateral streak gonads, tall stature, primary amenorrhea |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231275 |
RDSD023 |
PubMed: Baxter 2015 |
- |
rM |
- |
United States |
- |
- |
- |
- |
- |
DSD |
46,XY, microphallus, chordee, hypospadias, incompletely fused scrotum, ovotestis with Fallopian tube and partial uterus, contralateral normal testis; familial normal male hormonal profile |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231276 |
CDSD040 |
PubMed: Baxter 2015 |
- |
M |
- |
United States |
- |
- |
- |
- |
- |
DSD |
46,XY, perineal hypospadias, 2-cm phallus, bifid scrotum, penoscrotal transposition, no Müllerian structures, bilateral descended testes, no gonadal dysgenesis, premature birth, intrauterine growth restriction; SRY present, normal InhB, AMH, T, dihydrotestosterone |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231277 |
Pat13 |
PubMed: Eggers 2016 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231278 |
Pat249 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, hypospadias |
MAP3K1, ZFPM2 |
MAP3K1, ZFPM2 |
3 |
1 |
Johan den Dunnen |
00231279 |
Pat141 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; …, 46,XY disorder of sex development (unknown origin) |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231280 |
Pat194 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, partial gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231281 |
Pat10 |
PubMed: Eggers 2016 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231282 |
Pat141 |
PubMed: Eggers 2016 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231283 |
Pat148 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; …, 46,XY disorder of sex development (unknown origin) |
LHCGR, MAP3K1 |
LHCGR, MAP3K1 |
2 |
1 |
Johan den Dunnen |
00231284 |
Pat175 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; …, 46,XY disorder of sex development (unknown origin) |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231285 |
Pat166 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; …, 46,XY disorder of sex development (unknown origin) |
MAP3K1, WT1 |
MAP3K1, WT1 |
2 |
1 |
Johan den Dunnen |
00231286 |
Pat229 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, hypospadias |
MAP3K1, WDR11 |
MAP3K1, WDR11 |
2 |
1 |
Johan den Dunnen |
00231287 |
Pat214 |
PubMed: Eggers 2016 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
DSD |
see paper; … 46,XY, complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231288 |
Fam1 |
PubMed: Granados 2017 |
2-generation family, 2 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX) |
rF |
- |
United States |
white |
- |
- |
- |
- |
DSD |
see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1); gonadal tumor (1) |
MAP3K1 |
MAP3K1 |
1 |
2 |
Johan den Dunnen |
00231289 |
Fam2 |
PubMed: Granados 2017 |
2-generation family, 3 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX) |
rF |
- |
United States |
white |
- |
- |
- |
- |
DSD |
see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1) |
MAP3K1 |
MAP3K1 |
1 |
2 |
Johan den Dunnen |
00231290 |
Pat5 |
PubMed: Granados 2017 |
- |
rF |
- |
United States |
African American |
- |
- |
- |
- |
DSD |
see paper; …, partial gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231291 |
Pat6 |
PubMed: Granados 2017 |
- |
rF |
- |
United States |
African American |
- |
- |
- |
- |
DSD |
see paper; …, complete gonadal dysgenesis |
MAP3K1 |
MAP3K1 |
1 |
1 |
Johan den Dunnen |
00231415 |
Pat3 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231416 |
Pat4 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
HSD3B2 |
HSD3B2 |
2 |
1 |
Johan den Dunnen |
00231417 |
Pat6 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
ZFPM2 |
ZFPM2 |
1 |
1 |
Johan den Dunnen |
00231418 |
Pat9 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
SRY |
SRY |
1 |
1 |
Johan den Dunnen |
00231419 |
Pat12 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231420 |
Pat18 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231421 |
Pat21 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
SRY |
SRY |
1 |
1 |
Johan den Dunnen |
00231422 |
Pat22 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
ZFPM2 |
ZFPM2 |
2 |
1 |
Johan den Dunnen |
00231423 |
Pat24 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
SRY |
SRY |
1 |
1 |
Johan den Dunnen |
00231424 |
Pat25 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
complete gonadal dysgenesis |
DHH |
DHH |
1 |
1 |
Johan den Dunnen |
00231425 |
Pat26 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231426 |
Pat30 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231427 |
Pat32 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
HSD3B2 |
HSD3B2 |
2 |
1 |
Johan den Dunnen |
00231428 |
Pat35 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231429 |
Pat37 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231430 |
Pat38 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231431 |
Pat39 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
DHH |
DHH |
2 |
1 |
Johan den Dunnen |
00231432 |
Pat40 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231433 |
Pat41 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231434 |
Pat42 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
DHH |
DHH |
1 |
1 |
Johan den Dunnen |
00231435 |
Pat45 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
HSD17B3 |
HSD17B3 |
2 |
1 |
Johan den Dunnen |
00231436 |
Pat46 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231437 |
Pat47 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
PROK2 |
PROK2 |
1 |
1 |
Johan den Dunnen |
00231438 |
Pat48 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231439 |
Pat51 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
MAMLD1 |
MAMLD1 |
1 |
1 |
Johan den Dunnen |
00231440 |
Pat52 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
GATA4 |
GATA4 |
1 |
1 |
Johan den Dunnen |
00231441 |
Pat54 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231442 |
Pat55 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231443 |
Pat57 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
SRD5A2 |
SRD5A2 |
2 |
1 |
Johan den Dunnen |
00231444 |
Pat59 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorders of androgen synthesis or action |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231445 |
Pat61 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231446 |
Pat63 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
POR |
POR |
1 |
1 |
Johan den Dunnen |
00231447 |
Pat64 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231448 |
Pat66 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
HSD17B3 |
HSD17B3 |
1 |
1 |
Johan den Dunnen |
00231449 |
Pat68 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231450 |
Pat69 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
CHD7 |
CHD7 |
1 |
1 |
Johan den Dunnen |
00231451 |
Pat70 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
MAMLD1 |
MAMLD1 |
1 |
1 |
Johan den Dunnen |
00231452 |
Pat71 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231453 |
Pat73 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
CHD7 |
CHD7 |
1 |
1 |
Johan den Dunnen |
00231454 |
Pat74 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
NR5A1 |
NR5A1 |
2 |
1 |
Johan den Dunnen |
00231455 |
Pat75 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
SRD5A2 |
SRD5A2 |
2 |
1 |
Johan den Dunnen |
00231456 |
Pat76 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
KAL1 |
KAL1 |
1 |
1 |
Johan den Dunnen |
00231457 |
Pat77 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
FGF8 |
FGF8 |
1 |
1 |
Johan den Dunnen |
00231458 |
Pat78 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231459 |
Pat79 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231460 |
Pat80 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
ZFPM2 |
ZFPM2 |
1 |
1 |
Johan den Dunnen |
00231461 |
Pat81 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
HSD17B3 |
HSD17B3 |
1 |
1 |
Johan den Dunnen |
00231462 |
Pat83 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231463 |
Pat89 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
PROKR2 |
PROKR2 |
1 |
1 |
Johan den Dunnen |
00231464 |
Pat91 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231465 |
Pat94 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
MAMLD1 |
MAMLD1 |
1 |
1 |
Johan den Dunnen |
00231466 |
Pat96 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231467 |
Pat97 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
FGFR1 |
FGFR1 |
1 |
1 |
Johan den Dunnen |
00231468 |
Pat99 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
ZFPM2 |
ZFPM2 |
1 |
1 |
Johan den Dunnen |
00231469 |
Pat102 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
DHH |
DHH |
1 |
1 |
Johan den Dunnen |
00231470 |
Pat103 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231471 |
Pat106 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
SOX9 |
SOX9 |
1 |
1 |
Johan den Dunnen |
00231472 |
Pat108 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
KAL1 |
KAL1 |
1 |
1 |
Johan den Dunnen |
00231473 |
Pat115 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
HSD3B2 |
HSD3B2 |
1 |
1 |
Johan den Dunnen |
00231474 |
Pat116 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231475 |
Pat117 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
SRD5A2 |
SRD5A2 |
1 |
1 |
Johan den Dunnen |
00231476 |
Pat118 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
DHH |
DHH |
1 |
1 |
Johan den Dunnen |
00231477 |
Pat120 |
PubMed: Eggers 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231478 |
Pat124 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
MAMLD1 |
MAMLD1 |
1 |
1 |
Johan den Dunnen |
00231479 |
Pat127 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
SOX9 |
SOX9 |
1 |
1 |
Johan den Dunnen |
00231480 |
Pat129 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231481 |
Pat132 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
HSD17B3 |
HSD17B3 |
1 |
1 |
Johan den Dunnen |
00231482 |
Pat134 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
GATA4 |
GATA4 |
1 |
1 |
Johan den Dunnen |
00231483 |
Pat135 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231484 |
Pat136 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
AR |
AR |
1 |
1 |
Johan den Dunnen |
00231485 |
Pat143 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
PROKR2 |
PROKR2 |
1 |
1 |
Johan den Dunnen |
00231486 |
Pat144 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231487 |
Pat146 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development |
NR5A1 |
NR5A1 |
1 |
1 |
Johan den Dunnen |
00231488 |
Pat149 |
PubMed: Eggers 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development, adrenal hypoplasia |
STAR |
STAR |
2 |
1 |
Johan den Dunnen |
00231489 |
Pat153 |
PubMed: Eggers 2016 |
- |
rF |
- |
- |
- |
- |
- |
- |
- |
DSD |
disorder of sex development, renal failure |
WT1 |
WT1 |
1 |
1 |
Johan den Dunnen |