Disease #05420 (KS (Kallmann syndrome))

Official abbreviation	KS
Name	Kallmann syndrome
OMIM ID	-
Inheritance	-
Individuals reported having this disease	148
Phenotype entries for this disease	148
Associated with 1 gene	DCC
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-04-12 03:54:33 +02:00 (CEST)
Date last edited	N/A

Individuals

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.

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Operator	Column type	Example	Matches
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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'

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148 entries on 2 pages. Showing entries 1 - 100.

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

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
00283914	-	PubMed: Dodé 2009, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283915	-	PubMed: Sarfati 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283916	-	PubMed: Trarbach 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283918	-	PubMed: Sykiotis 2010, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283919	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283920	-	PubMed: Sykiotis 2010, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283921	-	PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Falardeau 2008	-	-	-	-	-	-	-	-	-	KS	hypogonadotropic hypogonadism 2 without anosmia	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283924	-	PubMed: Sato 2004, PubMed: Rajith 2013, PubMed: Sykiotis 2010	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283925	-	PubMed: Zhu 2015, PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283926	-	PubMed: Dodé 2009	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283927	-	PubMed: Albuisson 2005	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283930	-	PubMed: Laitinen 2011, PubMed: Pitteloud 2006, PubMed: Balasubramanian 1993	-	-	-	-	-	-	-	-	-	KS	hypogonadotropic hypogonadism 2 without anosmia, suceptibility to	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283932	-	PubMed: Trarbach 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283933	-	PubMed: Dodé 2003, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283934	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283935	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283936	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283937	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283939	-	PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Vizeneux 2013	-	-	-	-	-	-	-	-	-	KS	hyposmia ; isolated hypogonadotropic hypogonadism	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283940	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283941	-	PubMed: Cadman 2007, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283942	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283943	-	PubMed: Zhu 2015, PubMed: Sato 2005, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283944	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283946	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283947	-	PubMed: Dodé 2003	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283950	-	PubMed: Laitinen 2011	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283951	-	PubMed: Costa-Barbosa 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283952	-	PubMed: Dodé 2003, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283953	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283954	-	PubMed: Dodé 2007, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283955	-	PubMed: Dodé 2007	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283956	-	PubMed: Dodé 2003	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283959	-	PubMed: Sarfati 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283964	-	PubMed: Bailleul-Forestier 2010, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283965	-	PubMed: Xu 2007, PubMed: Balasubramanian 1993, PubMed: Zhu 2015, PubMed: Laitinen 2011, PubMed: Dodé 2003, PubMed: Miraoui 2013, PubMed: Sykiotis 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283966	-	PubMed: Zenaty 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283967	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283969	-	PubMed: Trarbach 2006	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283970	-	PubMed: Albuisson 2005	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283971	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283973	-	PubMed: Dodé 2003, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283974	-	PubMed: Sarfati 2010	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283975	-	PubMed: Pitteloud 2006, PubMed: Miraoui 2013, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283976	-	PubMed: Izumi 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283977	-	PubMed: Sarfati 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283979	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283980	-	PubMed: Albuisson 2005, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283983	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283985	-	PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Vizeneux 2013	-	-	-	-	-	-	-	-	-	KS	hyposmia ; isolated hypogonadotropic hypogonadism	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283987	-	PubMed: Costa-Barbosa 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283988	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283991	-	PubMed: Dodé 2009	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283992	-	PubMed: Novo 2012	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283993	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283996	-	PubMed: Sato 2006	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283997	-	PubMed: Laitinen 2011	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283998	-	PubMed: Sykiotis 2010, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00283999	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284001	-	PubMed: Dodé 2009	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284005	-	PubMed: Zhu 2015, PubMed: Trarbach 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284006	-	PubMed: Albuisson 2005	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284007	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284008	-	PubMed: Dodé 2007, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284009	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284010	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284011	-	PubMed: Bailleul-Forestier 2010, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284012	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284013	-	PubMed: Sykiotis 2010, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284014	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284015	-	PubMed: Zhu 2015, PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284016	-	PubMed: Trarbach 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284017	-	PubMed: Pitteloud 2007, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284018	-	PubMed: Bailleul-Forestier 2010	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284019	-	PubMed: Dodé 2009	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284020	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284021	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284022	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284023	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284026	-	PubMed: Dodé 2007, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284027	-	PubMed: Dodé 2009	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284028	-	PubMed: Laitinen 2011	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284029	-	PubMed: Dodé 2003	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284030	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284032	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284034	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284035	-	PubMed: Sykiotis 2010	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284036	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284037	-	PubMed: Bailleul-Forestier 2010	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284038	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284039	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284040	-	PubMed: Dodé 2003, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284041	-	PubMed: Zhu 2015, PubMed: Pitteloud 2006, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284042	-	PubMed: Albuisson 2005, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284043	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284044	-	PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Vizeneux 2013	-	-	-	-	-	-	-	-	-	KS	normosmia ; isolated hypogonadotropic hypogonadism	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284046	-	PubMed: Pitteloud 2006, PubMed: Miraoui 2013, PubMed: Koika 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284047	-	PubMed: Dodé 2009, PubMed: Koika 2013	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284049	-	PubMed: Iglesias 2014	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy
00284051	-	PubMed: Trarbach 2006	-	-	-	-	-	-	-	-	-	KS	-	FGFR1	FGFR1	1	1	Global Variome, with Curator vacancy

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Global Variome shared LOVD

SGCA (sarcoglycan, alpha (50kDa dystrophin-associa...))