Disease #04222 (PKD (kidney disease, polycystic (PKD)))

Official abbreviation	PKD
Name	kidney disease, polycystic (PKD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	1396
Phenotype entries for this disease	1292
Associated with 4 genes	GANAB, PKD1, PKD2, PKHD1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-03-13 11:12:15 +01:00 (CET)
Date last edited	2017-11-15 22:09:51 +01:00 (CET)

Individuals

Legend

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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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=""	Text	="p.0"	all entries exactly matching 'p.0'
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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
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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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1396 entries on 14 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00057280	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057281	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057282	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057283	-	PubMed: Bergmann 2006	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057284	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057285	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057286	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057287	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057288	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057289	-	PubMed: Denamur 2010	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057290	Fam3Pat1/2	PubMed: Bergmann 2003, PubMed: Bergmann 2005	family, 2 affected sibs (F, M)	F;M	-	Finland	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	2	2	Johan den Dunnen
00057291	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057292	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057293	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057294	-	PubMed: Denamur 2010	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057295	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057296	AL33	PubMed: Furu 2003	-	-	-	United States	white	-	-	-	-	PKD	see paper; …, childhood; no systemic hypertension; no kidney disease; portal hypertension	PKHD1	PKHD1	1	1	Johan den Dunnen
00057297	331/1360	PubMed: Furu 2003	-	-	-	Turkey	-	-	-	-	-	PKD	see paper; …, infantile	PKHD1	PKHD1	1	1	Johan den Dunnen
00057298	-	PubMed: Adeva 2006	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057299	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057300	398/1639	PubMed: Furu 2003	-	-	-	Netherlands	-	-	-	-	-	PKD	see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly	PKHD1	PKHD1	2	1	Johan den Dunnen
00057301	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057302	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057303	-	PubMed: Adeva 2006	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057304	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057305	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057306	Fam360Pat1/2/3	PubMed: Bergmann 2003, PubMed: Bergmann 2005	family, 3 affected (2F, M)	F;M	yes	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	3	Johan den Dunnen
00057307	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057308	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057309	367/1515	PubMed: Furu 2003	-	-	-	Australia	-	-	-	-	-	PKD	see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension	PKHD1	PKHD1	1	1	Johan den Dunnen
00057310	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057311	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057312	PatAL52	PubMed: Onuchic 2002	2-generation family, affected sisters, unaffected heterozygous carrier parents	F	yes	Saudi Arabia	-	-	-	-	-	PKD	see paper; …, later onset	PKHD1	PKHD1	1	2	Johan den Dunnen
00057313	AL21	PubMed: Furu 2003	-	-	-	United States	white	-	-	-	-	PKD	see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension	PKHD1	PKHD1	2	1	Johan den Dunnen
00057314	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057315	AL4	PubMed: Furu 2003	-	-	-	South Africa	Afrikaner	-	-	-	-	PKD	see paper; …, infantile; systemic hypertension; nephromegaly, chronic renal insufficiency in second decade; portal hypertension	PKHD1	PKHD1	2	1	Johan den Dunnen
00057316	-	PubMed: Ward 2002	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057317	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057318	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057319	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057320	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057321	313/1289	PubMed: Furu 2003	-	-	-	Germany	-	-	-	-	-	PKD	see paper; …, perinatal (neonatal death), sibling infantile; systemic hypertension; chronic renal insufficiency second decade; portal hypertension (20y sibling)	PKHD1	PKHD1	2	1	Johan den Dunnen
00057322	-	PubMed: Bergmann 2004	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057323	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057324	PatAL48	PubMed: Onuchic 2002	2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	PKD	see paper; …, later onset	PKHD1	PKHD1	2	3	Johan den Dunnen
00057325	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057326	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057327	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057328	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057329	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057330	patient	PubMed: Bergmann 2003	-	-	-	Pakistan	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057331	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057332	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057333	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057334	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057335	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057336	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057337	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057338	AL35	PubMed: Furu 2003	-	-	-	Turkey	-	-	-	-	-	PKD	see paper; …, infantile; no systemic hypertension; nephromegaly	PKHD1	PKHD1	2	1	Johan den Dunnen
00057339	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057340	-	PubMed: Adeva 2006	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057341	Fam385	PubMed: Bergmann 2003, PubMed: Bergmann 2005	-	M	-	Finland	-	<00y00m00d	-	-	-	PKD	see paper; ..., severe, death perinatal	PKHD1	PKHD1	1	1	Johan den Dunnen
00057342	-	PubMed: Bergmann 2004	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057343	296/1233	PubMed: Furu 2003	-	-	-	Italy	-	-	-	-	-	PKD	see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension	PKHD1	PKHD1	1	1	Johan den Dunnen
00057344	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057345	AL53	PubMed: Furu 2003	-	-	-	Saudi Arabia	-	-	-	-	-	PKD	see paper; …, infantile; systemic hypertension; nephromegaly	PKHD1	PKHD1	1	1	Johan den Dunnen
00057346	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057347	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057348	Fam316Pat1/2	PubMed: Bergmann 2003, PubMed: Bergmann 2005	family, 2 affected (F, M)	F;M	-	Germany	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	2	Johan den Dunnen
00057349	PatAL45	PubMed: Onuchic 2002	-	-	-	Saudi Arabia	-	-	-	-	-	PKD	see paper; …, later onset	PKHD1	PKHD1	1	1	Johan den Dunnen
00057350	patient	PubMed: Bergmann 2003	-	-	-	Netherlands	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057351	patient	PubMed: Bergmann 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057352	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057353	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057354	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057355	Pat1AL1	PubMed: Onuchic 2002	2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	PKD	see paper; …, later onset	PKHD1	PKHD1	2	4	Johan den Dunnen
00057356	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057357	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057358	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057359	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057360	-	PubMed: Ward 2002	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057361	Al27	PubMed: Furu 2003	-	-	-	United States	white	-	-	-	-	PKD	see paper; …, infantile; systemic hypertension; nephromegaly, end-stage renal failure requiring renal replacement therapy in second decade w/transplant; no portal hypertension, hepatomegaly	PKHD1	PKHD1	1	1	Johan den Dunnen
00057362	-	PubMed: Sgro 2004	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057363	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057364	-	PubMed: Rossetti 2003	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057365	-	PubMed: Sharp 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057366	Fam258	PubMed: Bergmann 2003, PubMed: Bergmann 2005	-	M	-	Israel	Arab	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057367	AL19	PubMed: Furu 2003	-	-	-	United States	white	-	-	-	-	PKD	see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension	PKHD1	PKHD1	1	1	Johan den Dunnen
00057368	-	PubMed: Sgro 2004	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057369	-	PubMed: Bergmann 2004	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057370	-	PubMed: Bergmann 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057371	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057372	AL34	PubMed: Furu 2003	-	-	-	United States	white	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	2	1	Johan den Dunnen
00057373	-	PubMed: Ward 2002	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057374	AL30	PubMed: Furu 2003	-	-	-	United States	Hispanic	-	-	-	-	PKD	see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension	PKHD1	PKHD1	1	1	Johan den Dunnen
00057375	-	PubMed: Bergmann 2004	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057376	-	PubMed: Losekoot 2005	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057377	-	PubMed: Ward 2002	-	-	-	-	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057378	Fam470	PubMed: Bergmann 2003	-	M	yes	Syria	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	1	1	Johan den Dunnen
00057379	Fam105	PubMed: Bergmann 2003, PubMed: Bergmann 2005	family, 3 affected sibs (2F, M)	F;M	-	Italy	-	-	-	-	-	PKD	see paper; …	PKHD1	PKHD1	2	3	Johan den Dunnen

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Global Variome shared LOVD

ZMPSTE24 (zinc metallopeptidase STE24)