Disease #00282 (KABUK1 (Kabuki syndrome, type 1), OMIM:147920)

Official abbreviation	KABUK1
Name	Kabuki syndrome, type 1
OMIM ID	147920
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	896
Phenotype entries for this disease	885
Associated with 1 gene	KMT2D
Associated tissues	-
Disease features	autosomal dominant
Remarks	-
Date created	2013-11-25 18:31:50 +01:00 (CET)
Date last edited	2025-10-10 15:53:17 +02:00 (CEST)

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

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.

896 entries on 9 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9		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
00019621	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019622	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019623	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019624	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019625	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019626	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019627	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019628	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019629	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019630	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019631	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019632	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019633	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019634	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019635	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019636	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019637	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019638	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019639	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019640	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019641	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019642	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019643	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019644	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019645	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019646	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019647	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019648	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019649	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019650	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019651	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019652	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019653	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019654	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019655	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019656	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019657	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019658	-	PubMed: Micale 2014	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Giuseppe Merla
00019659	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	2	1	B. Augello
00019660	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019661	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019662	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019663	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019664	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019665	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019666	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019667	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	2	1	B. Augello
00019668	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019669	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	2	1	B. Augello
00019670	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	2	1	B. Augello
00019671	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	2	1	B. Augello
00019673	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019674	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	2	1	B. Augello
00019675	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019676	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019677	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019678	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019679	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019680	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019681	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019682	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019683	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019684	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019685	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019686	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019687	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019688	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019689	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	B. Augello
00019690	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Johan den Dunnen
00019691	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Johan den Dunnen
00019692	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Johan den Dunnen
00019693	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Johan den Dunnen
00019694	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Johan den Dunnen
00019695	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Johan den Dunnen
00019696	-	-	-	-	-	Italy	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Johan den Dunnen
00047868	-	PubMed: Paderova 2016, Journal: Paderova 2016	-	M	no	Czech Republic	-	-	-	-	-	KABUK1	see paper; ...	KMT2D	KMT2D	1	1	Jana Paderova
00047869	-	PubMed: Paderova 2016, Journal: Paderova 2016	-	M	no	Czech Republic	white	-	-	-	-	KABUK1	see paper; ...	KMT2D	KMT2D	1	1	Jana Paderova
00047870	-	PubMed: Paderova 2016, Journal: Paderova 2016	-	F	no	Czech Republic	white	-	-	-	-	KABUK1	see paper; ...	KMT2D	KMT2D	1	1	Jana Paderova
00056501	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056502	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056503	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056504	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056505	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056506	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056507	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056508	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056509	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056510	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056511	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056512	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056513	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056514	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056515	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056516	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056517	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056518	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056519	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056520	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056521	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois
00056522	-	PubMed: Ng 2010	-	-	-	-	-	-	-	-	-	KABUK1	-	KMT2D	KMT2D	1	1	Vincent Gatinois

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

Global Variome shared LOVD

ASF1A (ASF1 anti-silencing function 1 homolog A (S...))