Disease #05537 (OCA (albinism, oculocutaneous))

Official abbreviation	OCA
Name	albinism, oculocutaneous
OMIM ID	-
Inheritance	-
Individuals reported having this disease	87
Phenotype entries for this disease	51
Associated with 2 genes	C10orf11, SLC24A5
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-12-22 14:35:14 +01:00 (CET)
Date last edited	N/A

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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87 entries on 1 page. Showing entries 1 - 87.

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
00204360	-	-	-	-	-	South Africa	-	-	-	-	-	OCA	Brown OCA, Rufous OCA	TYRP1	TYRP1	1	2	William (Bill) Oetting
00204364	-	-	-	-	-	South Africa	-	-	-	-	-	OCA	Brown OCA, Rufous OCA	TYRP1	TYRP1	2	17	William (Bill) Oetting
00204373	-	-	-	-	-	United States	African American	-	-	-	-	OCA	Brown OCA, Rufous OCA	TYRP1	TYRP1	1	1	William (Bill) Oetting
00209036	28771251-Pat70	PubMed: Lionel 2018	-	M	-	Canada	-	-	-	-	-	OCA	Oculocutaneous albinism	TYR	TYR	2	1	Johan den Dunnen
00324429	F1:II-1	-	-	M	no	-	-	-	-	-	-	OCA	nystagmus, anomalous head posture, grade 1 foveal hypoplasia, misrouting on VEP	-	TYR	2	1	Mervyn Thomas
00324431	F2:II-1	-	-	M	no	-	-	-	-	-	-	OCA	Exotropia, Nystagmus, Anomalous head posture, grade 1 iris transillumination defects, VEP misrouting,	-	OCA2, TYR	2	1	Mervyn Thomas
00324432	F2:II-2	-	-	F	no	-	-	-	-	-	-	OCA	Reduced visual acuity (0.15 and 0.225 logMAR). VEP misrouting	TYR	TYR	1	1	Mervyn Thomas
00324434	F4:II-1	-	-	M	no	-	-	-	-	-	-	OCA	Reduced VA (0.85 logMAR), Nystagmus, anomalous head posture, grade 4 foveal hypoplasia, grade 4 transillumination defects of iris	-	OCA2	2	1	Mervyn Thomas
00325071	OCAK43	PubMed: Ganguly 2020	-	-	-	India	Chain-Kashyap	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	2	1	Mainak Sengupta
00325072	OCAK14	PubMed: Ganguly 2020	-	-	-	India	Kurmi-Kshatriya	-	-	-	-	OCA	see paper; ..., residual pigmentation hairs and iris; iris blue; hair golden brown; no nystagmus; no strabismus	TYR	TYR	2	1	Mainak Sengupta
00325087	OCAK1	PubMed: Ganguly 2020	family	-	-	India	Tili/Tambuli	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325088	OCAK10	PubMed: Ganguly 2020	sporadic case	-	-	India	Kuloh/Tili	-	-	-	-	OCA	iris brownish yellow; hair white; nystagmus; no strabismus	TYR	TYR	1	1	Mainak Sengupta
00325089	OCAK12	PubMed: Ganguly 2020	family, 2 affected	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	2	Mainak Sengupta
00325090	OCAK13	PubMed: Ganguly 2020	-	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325091	OCAK15	PubMed: Ganguly 2020	sporadic case	-	-	India	Koibatya-Mahishya	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325092	OCAK17	PubMed: Ganguly 2020	family	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325093	OCAK2	PubMed: Ganguly 2020	sporadic case	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325094	OCAK20	PubMed: Ganguly 2020	-	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325095	OCAK21	PubMed: Ganguly 2020	sporadic case	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325096	OCAK3	PubMed: Ganguly 2020	sporadic case	-	-	India	Tili/Tambuli	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325097	OCAK23	PubMed: Ganguly 2020	sporadic case	-	-	India	Tili/Tambuli	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325098	OCAK24	PubMed: Ganguly 2020	-	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325099	OCAK25	PubMed: Ganguly 2020	sporadic case	-	-	India	Kshatriya	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325100	OCAK26	PubMed: Ganguly 2020	sporadic case	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	2	1	Mainak Sengupta
00325101	OCAK31	PubMed: Ganguly 2020	sporadic case	-	-	India	Bishwakarma	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325102	OCAK33	PubMed: Ganguly 2020	sporadic case	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325103	OCAK34	PubMed: Ganguly 2020	sporadic case	-	-	India	Tili/Tambuli	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325104	OCAK35	PubMed: Ganguly 2020	family	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; no nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325105	OCAK36	PubMed: Ganguly 2020	family	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; no nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325106	OCAK37	PubMed: Ganguly 2020	family	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325107	OCAK38	PubMed: Ganguly 2020	sporadic case	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325108	OCAK39	PubMed: Ganguly 2020	family	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325109	OCAK44	PubMed: Ganguly 2020	family, 2 affected	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	2	Mainak Sengupta
00325110	OCAK45	PubMed: Ganguly 2020	-	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325111	OCAK48	PubMed: Ganguly 2020	family	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325112	OCAK50	PubMed: Ganguly 2020	family, 2 affected	-	-	India	-	-	-	-	-	OCA	iris brownish yellow; hair white; nystagmus; no strabismus	TYR	TYR	1	2	Mainak Sengupta
00325113	OCAK51	PubMed: Ganguly 2020	-	-	-	India	-	-	-	-	-	OCA	iris brownish yellow; hair white; nystagmus; no strabismus	TYR	TYR	1	1	Mainak Sengupta
00325114	OCAK8	PubMed: Ganguly 2020	family, 2 affected	-	-	India	Siddique	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	2	Mainak Sengupta
00325115	OCAK9	PubMed: Ganguly 2020	-	-	-	India	Siddique	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00325116	OCAT1	PubMed: Ganguly 2020	family, 2 affected	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	2	Mainak Sengupta
00325117	OCAT2	PubMed: Ganguly 2020	-	-	-	India	-	-	-	-	-	OCA	iris translucent; hair white; nystagmus; strabismus	TYR	TYR	1	1	Mainak Sengupta
00378022	IR_SH_0010	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	OCA	HP:0030515 HP:0001129 HP:0000639, HP:0000007, HP:0001022, HP:0007750, HP:0007894	-	SLC45A2	2	1	Jinu Han
00378025	-	-	-	?	-	-	-	-	-	-	-	OCA	HP:0030515 HP:0001129 HP:0000639, HP:0000007, HP:0001022, HP:0007750, HP:0007894	-	SLC45A2	2	1	Jinu Han
00379639	IR_GH_0019	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	OCA	HP:0030515 HP:0001129 HP:0000639, HP:0000007, HP:0001022, HP:0007750, HP:0002286	-	TYR	2	1	Jinu Han
00379655	IR_GH_0038	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	OCA	HP:0032037 HP:0000662 HP:0000613, HP:0000639, HP:0000006, HP:0001022, HP:0007750	-	SLC45A2	1	1	Jinu Han
00379781	IR_GH_0142	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	OCA	HP:0000613, HP:0007730, HP:0007513	-	SLC45A2	2	1	Jinu Han
00385125	-	PubMed: Vona 2022, Journal: Vona 2022	-	M	yes	-	-	-	-	-	-	OCA	-	-	KITLG	1	1	Barbara Vona
00426125	10DK13700	PubMed: Al-Kasbi 2022	patient, other affecteds in family	M	-	Oman	-	-	-	-	-	ID, OCA	-	-	GLRA1, OCA2	2	1	Johan den Dunnen
00435430	-	-	-	-	-	India	-	-	-	-	-	OCA	-	TYR	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436615	alb003	-	-	F	-	India	Indian	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436616	alb008	-	-	F	-	-	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436617	alb0020	-	-	-	-	India	Indian	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436618	alb0051	-	-	-	-	India	Indian	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436619	alb044	-	-	-	-	India	Indian	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436620	alb0012	-	-	-	-	India	Indiano	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436621	alb0011	-	-	-	-	India	Indian	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436622	alb0010	-	-	-	-	India	Indian	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436624	alb0078	-	-	-	-	India	Indian	-	-	-	-	OCA	-	OCA2	OCA2	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436625	alb0081	-	-	-	-	India	-	-	-	-	-	OCA	-	-	OCA2	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436626	alb0072	-	-	-	-	India	Indian	-	-	-	-	OCA	-	-	OCA2	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436627	alb0070	-	-	-	-	India	-	-	-	-	-	OCA	-	-	OCA2	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436636	alb0014	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436637	alb0023	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436638	alb0049	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436639	alb0018	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436640	alb0022	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436641	alb0033	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436642	alb0037	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436643	alb007	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436644	alb009	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436645	alb0029	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436666	alb0025	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436667	alb0045	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436668	alb0026	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436669	alb0048	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436670	alb0024	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436671	alb005	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436775	alb0074	-	-	-	-	India	-	-	-	-	-	OCA	-	-	OCA2	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436776	alb0073	-	-	-	-	India	-	-	-	-	-	OCA	-	-	OCA2	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436777	alb0075	-	-	-	-	India	-	-	-	-	-	OCA	-	-	OCA2	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436778	alb0064	-	-	-	-	India	-	-	-	-	-	OCA	-	-	OCA2	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436784	alb0029	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436785	alb0016	-	-	-	-	India	-	-	-	-	-	OCA	-	-	TYR	1	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436786	alb0066	-	-	-	-	India	-	-	-	-	-	OCA	-	-	OCA2	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00436787	alb0079	-	-	-	-	India	Indian	-	-	-	-	OCA	-	-	OCA2	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00440083	-	-	-	F	-	India	Indian	-	-	-	-	OCA	-	-	TYR	2	1	Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00465316	-	-	-	F	no	Germany	-	-	-	-	-	OCA	-	C10orf11, OCA2, SLC45A2, TYR, TYRP1	TYR	1	1	Gemeinschaftspraxis für Humangenetik Dresden

Legend

How to query

Global Variome shared LOVD

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)