Disease #00128 (CF (cystic fibrosis (CF)), OMIM:219700)

Official abbreviation	CF
Name	cystic fibrosis (CF)
OMIM ID	219700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	562
Phenotype entries for this disease	554
Associated with 3 genes	CFTR, FCGR2A, TGFB1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-05-14 09:22:43 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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.

How to query this table

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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'

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562 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		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
00001226	-	the CFTR2 database	see CFTR2 database for details	-	-	-	-	-	-	-	-	CF	-	CFTR	CFTR	435	1	Johan den Dunnen
00035167	-	-	-	-	-	Germany	-	-	-	-	-	CF	clinical CF	CFTR	CFTR	1	1	Andreas Laner
00035171	-	-	-	-	-	Germany	-	-	-	-	-	CF	cystic fibrosis	CFTR	CFTR	1	1	Andreas Laner
00035182	-	-	-	-	-	Germany	-	-	-	-	-	CF	cystic fibrosis	CFTR	CFTR	1	1	Andreas Laner
00035183	-	-	-	-	-	Germany	-	-	-	-	-	CF	cystic fibrosis	CFTR	CFTR	1	1	Andreas Laner
00035186	-	-	-	-	-	Germany	-	-	-	-	-	CF	cystic fibrosis	CFTR	CFTR	1	1	Andreas Laner
00164653	-	-	-	F	?	Russian Federation	white	15y	-	-	-	CF	Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Bronchiectasis. Cirrhosis	CFTR	CFTR	1	1	Zobkova Gaukhar Yurevna
00164654	-	-	-	F	?	(Russian Federation)	white	08y	-	-	-	CF	Cystic fibrosis mixed type, severe course. Chronic pancreatic insufficiency. Bronchiectases	CFTR	CFTR	1	1	Zobkova Gaukhar Yurevna
00164657	-	-	-	M	?	(Russian Federation)	white	17y	-	-	-	CF	Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Chronic polyposis rhinosinusitis.	CFTR	CFTR	1	1	Zobkova Gaukhar Yurevna
00164659	-	-	-	M	?	(Russian Federation)	white	09y	-	-	-	CF	Cystic fibrosis mixed type, severe course. Chronic purulent bronchitis. Chronic pancreatic insufficiency. Cirrhosis associated with cystic fibrosis. Chronic polyposis rhinosinusitis.	CFTR	CFTR	1	1	Zobkova Gaukhar Yurevna
00271321	VL IV:1	PubMed: Poulter 2012 PubMed: Savarese 2014	4 generation family, 1 affected	F	yes	Pakistan	-	-	-	-	-	CF, EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)	CFTR, TSPAN12	CFTR, TSPAN12	2	1	Jasmine Chen
00296871	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	2	1	Erina Sasaki
00296876	-	Sasaki 2020, submitted	-	-	no	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00296877	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00296878	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	2	1	Erina Sasaki
00299457	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299458	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299459	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299460	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299461	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299462	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299463	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299464	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299465	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299466	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299467	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299468	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299469	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299470	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299471	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299472	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299473	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299474	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299475	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299476	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299477	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299478	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299479	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299480	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299481	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299482	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299483	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299484	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299485	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299486	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299487	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299488	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299489	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299490	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299491	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299492	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299493	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299494	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299495	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299496	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299497	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299498	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299499	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299500	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299501	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299502	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299503	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299504	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299505	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299506	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299507	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299508	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299509	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299510	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299511	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299512	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299513	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299514	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299515	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299516	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299517	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299518	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299519	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299520	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299521	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299522	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299523	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299524	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299525	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299526	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299527	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299528	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299529	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299530	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299531	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299532	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299533	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299534	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299535	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299536	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299537	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299538	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299539	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299540	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki
00299541	-	Sasaki 2020, submitted	-	-	-	Ireland	-	-	-	-	-	CF	elevated sweat chloride (HP:0012236)	CFTR	CFTR	1	1	Erina Sasaki

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Global Variome shared LOVD

NDUFA2 (NADH dehydrogenase (ubiquinone) 1 alpha sub...)