All individuals with variants in gene PHEX

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.

1616 entries on 17 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

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	-	-	-	-	-	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
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00174830	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174831	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174832	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174833	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174834	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174835	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174836	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174837	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174838	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174839	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174840	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174841	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174842	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174843	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174844	Pat?	PubMed: Quinlan 2012	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174845	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174846	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174847	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174848	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174849	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174850	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174851	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00174852	Pat?	PubMed: Quinlan 2012	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	-	1	1	Yves Sabbagh
00225631	-	PubMed: Li 2019	4-generation family, 9 affected (4F, 5M), heterozygous affected mother and healthy father	M	no	China	yellow race	02y06m	-	yes	yes	XLHR	see paper; ...,	1	9	Wei Li
00295015	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00308773	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00392047	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392048	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392049	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392050	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392051	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392052	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392053	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392054	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392055	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392056	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392057	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392058	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392059	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392060	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392061	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392062	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392063	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392064	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392065	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392066	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392067	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392068	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392069	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392070	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392071	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392072	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392073	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392074	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392075	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392076	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392077	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392078	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392079	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392080	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392081	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392082	-	PubMed: Chesher 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392083	Pat1	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., mild bone phenotype, phosphate serum level 2.9 mg/dl, tubular reabsorption of phosphate 0., 25 hydroxy vitamin D 28 ng/mL, 1,25 dihydroxi vitamin D 87 pg/mL, alkaline phosphatase 1531	1	1	Johan den Dunnen
00392084	Pat2	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-2.71), phosphate serum level 2.3 mg/dl, tubular reabsorption of phosphate 0.60, parathyroid hormone 48 pg/mL, alkaline phosphatase 558, nephrocalcinosis after treatment, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392085	Pat3	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-3.38), phosphate serum level 2.3 mg/dl, tubular reabsorption of phosphate 0.564, 1,25 dihydroxi vitamin D 13.2 pg/ml, parathyroid hormone 21 pg/mL, alkaline phosphatase 766, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392086	Pat4	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-2.34), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.784, 25 hydroxy vitamin D 29.7 ng/mL, 1,25 dihydroxi vitamin D 73 pg/ml, parathyroid hormone 28 pg/mL, alkaline phosphatase 378, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392087	Pat5	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.253, 25 hydroxy vitamin D 12 ng/mL, nephrocalcinosis	1	1	Johan den Dunnen
00392088	Pat6	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-4.06), phosphate serum level 2.1 mg/dl, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392089	Pat7	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-3.2), phosphate serum level 2.9 mg/dl, tubular reabsorption of phosphate 0.76, 25 hydroxy vitamin D 175.2 ng/mL, pg/ml, parathyroid hormone 79 pg/mL, alkaline phosphatase 1786, nephrocalcinosis, no hyperparathyroidism	1	1	Johan den Dunnen
00392090	Pat8	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392091	Pat9	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-2.01), phosphate serum level 2.4 mg/dl, tubular reabsorption of phosphate 0.80, 25 hydroxy vitamin D 79 ng/mL, 1,25 dihydroxi vitamin D 38.2 pg/ml, parathyroid hormone 18 pg/mL, alkaline phosphatase 584, nephrocalcinosis, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392092	Pat10	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-2.05), phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.91, parathyroid hormone 52 pg/mL, alkaline phosphatase 791, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392093	Pat11	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., mild bone phenotype, height (SD0.88), phosphate serum level 4 mg/dl, tubular reabsorption of phosphate 0.89, 25 hydroxy vitamin D 41 ng/mL, 1,25 dihydroxi vitamin D 75 pg/ml, parathyroid hormone 75 pg/mL, alkaline phosphatase 1755, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392094	Pat12	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-3.35), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.32, 25 hydroxy vitamin D 27.5 ng/mL, 1,25 dihydroxi vitamin D 16 pg/ml, parathyroid hormone 68 pg/mL, alkaline phosphatase 1646, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392095	Pat13	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-2.24), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.582, 1,25 dihydroxi vitamin D 21.9 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 1699, nephrocalcinosis after treatment, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392096	Pat14	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392097	Pat15	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392098	Pat16	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-1.97), phosphate serum level 2.5 mg/dl, tubular reabsorption of phosphate 0.52, 1,25 dihydroxi vitamin D 28 pg/ml, parathyroid hormone 29 pg/mL, alkaline phosphatase 991, nephrocalcinosis after treatment, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392099	Pat17	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-4.86), 25 hydroxy vitamin D 16 ng/mL, 1,25 dihydroxi vitamin D 28 pg/ml, parathyroid hormone 25 pg/mL, alkaline phosphatase 755, nephrocalcinosis after treatment, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392100	Pat18	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-3.11), phosphate serum level 3.1 mg/dl, tubular reabsorption of phosphate 0.823, 25 hydroxy vitamin D 43 ng/mL, 1,25 dihydroxi vitamin D 60 pg/ml, parathyroid hormone 60 pg/mL, alkaline phosphatase 934, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392101	Pat19	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-3.84), tubular reabsorption of phosphate 0.66, 25 hydroxy vitamin D 37.5 ng/mL, parathyroid hormone 42 pg/mL, alkaline phosphatase 534, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392102	Pat20	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., mild bone phenotype, height (SD-2.53), phosphate serum level 2.2 mg/dl, tubular reabsorption of phosphate 0.71, 25 hydroxy vitamin D 30.1 ng/mL, 1,25 dihydroxi vitamin D 129 pg/ml, parathyroid hormone 66.7 pg/mL, alkaline phosphatase 597, nephrocalcinosis after treatment, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392103	Pat21	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-2.97), phosphate serum level 2.5 mg/dl, tubular reabsorption of phosphate 0.78, 25 hydroxy vitamin D 28 ng/mL, 1,25 dihydroxi vitamin D 53 pg/ml, parathyroid hormone 66 pg/mL, alkaline phosphatase 1020, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392104	Pat22	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-1.65), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.83, parathyroid hormone 23 pg/mL, alkaline phosphatase 448, nephrocalcinosis, no hyperparathyroidism	1	1	Johan den Dunnen
00392105	Pat23	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-5.47), phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.23, nephrocalcinosis, hyperparathyroidism before treatment	1	1	Johan den Dunnen
00392106	Pat24	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-2.26), phosphate serum level 2.0 mg/dl, tubular reabsorption of phosphate 0.59, 1,25 dihydroxi vitamin D 30.1 pg/ml, parathyroid hormone 57 pg/mL, alkaline phosphatase 1010, nephrocalcinosis, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392107	Pat25	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-2), phosphate serum level 2.7 mg/dl, tubular reabsorption of phosphate 0.46, 25 hydroxy vitamin D 45.2 ng/mL, 1,25 dihydroxi vitamin D 53.4 pg/ml, parathyroid hormone 48 pg/mL, alkaline phosphatase 528, nephrocalcinosis after treatment, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392108	Pat26	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., mild bone phenotype, height (SD0.62), phosphate serum level 2.5 mg/dl, tubular reabsorption of phosphate 0., 25 hydroxy vitamin D 73 ng/mL, 1,25 dihydroxi vitamin D 76 pg/ml, parathyroid hormone 60 pg/mL, alkaline phosphatase 1249, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392109	Pat27	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-3.23), phosphate serum level 2.6 mg/dl, tubular reabsorption of phosphate 0.776, 25 hydroxy vitamin D 30 ng/mL, 1,25 dihydroxi vitamin D 41 pg/ml, parathyroid hormone 43 pg/mL, alkaline phosphatase 1389, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392110	Pat28	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., mild bone phenotype, height (SD-2.56), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.33, alkaline phosphatase 220, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392111	Pat29	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-3.1), phosphate serum level 2.4 mg/dl, tubular reabsorption of phosphate 0.66, 25 hydroxy vitamin D 54.2 ng/mL, 1,25 dihydroxi vitamin D 39.8 pg/ml, parathyroid hormone 58 pg/mL, alkaline phosphatase 856, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392112	Pat30	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-1.84), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.85, 25 hydroxy vitamin D 18 ng/mL, 1,25 dihydroxi vitamin D 147 pg/ml, parathyroid hormone 78 pg/mL, alkaline phosphatase 1513, nephrocalcinosis after treatment, hyperparathyroidism before treatment	1	1	Johan den Dunnen
00392113	Pat31	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ...	1	1	Johan den Dunnen
00392114	Pat32	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-3.31), phosphate serum level 3.1 mg/dl, tubular reabsorption of phosphate 0.592, 1,25 dihydroxi vitamin D 32 pg/ml, parathyroid hormone 52.3 pg/mL, alkaline phosphatase 1110, nephrocalcinosis after treatment, hyperparathyroidism after treatment	1	1	Johan den Dunnen
00392115	Pat33	PubMed: Morey 2011	-	M	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD0.64), phosphate serum level 3.7 mg/dl, tubular reabsorption of phosphate 0.623, 25 hydroxy vitamin D 6.6 ng/mL, 1,25 dihydroxi vitamin D 13.8 pg/ml, parathyroid hormone 22 pg/mL, alkaline phosphatase 1204, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392116	Pat34	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., mild bone phenotype, height (SD-4.37), phosphate serum level 2.2 mg/dl, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392117	Pat35	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., moderate bone phenotype, height (SD-2.3), phosphate serum level 2.6 mg/dl, tubular reabsorption of phosphate 0.75, 25 hydroxy vitamin D 39 ng/mL, 1,25 dihydroxi vitamin D 14 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 1109, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen
00392118	Pat36	PubMed: Morey 2011	-	F	-	Spain	-	-	-	-	-	XLHR	see paper; ..., severe bone phenotype, height (SD-1.95), phosphate serum level 3.7 mg/dl, tubular reabsorption of phosphate 0.867, 25 hydroxy vitamin D 31 ng/mL, 1,25 dihydroxi vitamin D 56.3 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 470, nephrocalcinosis after treatment, no hyperparathyroidism	1	1	Johan den Dunnen

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Global Variome shared LOVD

PHEX (phosphate regulating endopeptidase homolog, X...)