Disease #01371 (HD (Huntington disease (HD)), OMIM:143100)

Official abbreviation	HD
Name	Huntington disease (HD)
OMIM ID	143100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	65
Phenotype entries for this disease	65
Associated with 2 genes	HTT, TBX18
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +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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65 entries on 1 page. Showing entries 1 - 65.

Legend

How to query

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
00079356	-	PubMed: de Rooij 1993	-	?	no	Netherlands	-	-	-	-	-	HD	Huntington's disease	HTT	HTT	4	1	Johan den Dunnen
00079357	-	PubMed: de Rooij 1993	-	M	no	Netherlands	-	-	-	-	-	HD	Huntington's disease	HTT	HTT	2	1	Johan den Dunnen
00079359	-	PubMed: de Rooij 1993	-	M	no	Netherlands	-	-	-	-	-	HD	Huntington's disease	HTT	HTT	2	1	Johan den Dunnen
00081358	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081359	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081360	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	122	1	Chris Kay
00081361	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081362	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081363	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081364	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	CYP21A2, HTT, MSANTD1, RGS12, RNF4	139	1	Chris Kay
00081365	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	CYP21A2, FAM20C, HTT, MSANTD1, MTHFR, RGS12	140	1	Chris Kay
00081366	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	122	1	Chris Kay
00081367	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081368	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081369	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081370	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081371	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081372	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	122	1	Chris Kay
00081373	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	122	1	Chris Kay
00081374	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081375	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	122	1	Chris Kay
00081376	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	CYP21A2, HTT, HUWE1, MSANTD1, NPHP4, RGS12	136	1	Chris Kay
00081377	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081378	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081379	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	GRK4, HTT, HUWE1, MSANTD1, NPHP4, RGS12	135	1	Chris Kay
00081380	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081381	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081382	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081383	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081384	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081385	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081386	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081387	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081388	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081389	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	121	1	Chris Kay
00081390	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081391	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081392	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	118	1	Chris Kay
00081393	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1, RGS12, USH2A	139	1	Chris Kay
00081394	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081395	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081396	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1, RGS12	138	1	Chris Kay
00081397	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081398	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081399	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	123	1	Chris Kay
00081400	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	CDH23, HTT, MSANTD1, RGS12	135	1	Chris Kay
00081401	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	CDH23, HTT, MSANTD1, RGS12	139	1	Chris Kay
00081402	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	126	1	Chris Kay
00081403	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081404	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081405	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081406	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	125	1	Chris Kay
00081407	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	121	1	Chris Kay
00081408	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	124	1	Chris Kay
00081409	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	COL17A1, HTT, MSANTD1, NHLRC1, RGS12	138	1	Chris Kay
00081410	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	ERCC6, GRK4, HTT, MSANTD1, NHLRC1, RGS12, RPGR	140	1	Chris Kay
00081411	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	ERCC6, HTT, MSANTD1, RGS12	139	1	Chris Kay
00081412	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	ERCC6, HTT, MSANTD1, RGS12	139	1	Chris Kay
00081413	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	ERCC6, HTT, MSANTD1, RGS12	135	1	Chris Kay
00081414	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	ALG9, HTT, MSANTD1, RGS12	139	1	Chris Kay
00081415	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	123	1	Chris Kay
00081416	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	HTT, MSANTD1	121	1	Chris Kay
00081417	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	ATM, GRK4, HTT, MSANTD1, RGS12	135	1	Chris Kay
00081418	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	BBS1, HTT, MSANTD1, RGS12	139	1	Chris Kay
00081419	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	HTT	BBS1, HTT, MSANTD1, NHLRC1, RGS12	140	1	Chris Kay

Legend

How to query

Global Variome shared LOVD

MYH11 (myosin, heavy chain 11, smooth muscle)