Disease #00212 (SCZD (schizophrenia (SCZD)), OMIM:181500)

Official abbreviation	SCZD
Name	schizophrenia (SCZD)
OMIM ID	181500
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	80
Phenotype entries for this disease	70
Associated with 14 genes	AKT1, APOL2, APOL4, CHI3L1, COMT, DAO, DAOA, DISC1, DISC2, DRD3, DTNBP1, HTR2A, MTHFR, RTN4R
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-09-24 21:08:12 +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

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.

80 entries on 1 page. Showing entries 1 - 80.

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
00019919	CasMhe	PubMed: Yoosefee 2016	87 male cases	M	-	Iran	-	-	-	-	-	SCZD	-	NRG1	NRG1	1	87	Maryam Hatami
00079969	-	PubMed: Aleksic 2013	screening 321 schizophrenic patients	-	-	Japan	-	-	-	-	-	SCZD	-	VAV3	VAV3	1	7	Jelena Čalyševa
00080066	-	s	-	-	-	Germany	-	-	-	-	-	SCZD	-	SHANK3	SHANK3	1	1	Simone Berkel
00080184	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080185	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080186	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080187	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080188	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080189	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080190	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080191	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00080192	-	-	-	-	-	Germany	-	-	-	-	-	SCZD	schizophrenia	SHANK3	SHANK3	1	1	Simone Berkel
00081746	-	PubMed: Aleksic 2013	-	F;M	-	Japan	-	-	-	-	-	SCZD	variant associated with schizophrenia, volume left superior (P=0.011)/middle temporal gyri (P=0.013)	VAV3	VAV3	1	1	Johan den Dunnen
00081747	-	PubMed: Aleksic 2013	screening 321 schizophrenic patients	-	-	Japan	-	-	-	-	-	SCZD	-	VAV3	VAV3	1	2	Johan den Dunnen
00081748	-	PubMed: Aleksic 2013	screening 321 schizophrenic patients	-	-	Japan	-	-	-	-	-	SCZD	-	VAV3	VAV3	1	1	Johan den Dunnen
00081749	-	PubMed: Aleksic 2013	screening 321 schizophrenic patients	-	-	Japan	-	-	-	-	-	SCZD	-	VAV3	VAV3	1	3	Johan den Dunnen
00110478	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110479	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110480	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110481	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110482	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110483	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110484	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110485	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110486	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110487	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110488	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110489	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110490	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110491	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110492	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110493	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110494	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110495	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110496	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110497	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110498	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110499	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110500	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110501	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110502	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110503	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110504	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110505	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110506	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00110507	-	PubMed: Knight 2009	-	-	-	-	-	-	-	-	-	SCZD	SCZ	ABCA13	ABCA13	1	1	Johan den Dunnen
00134062	CasMho	PubMed: Yoosefee 2016	45 male cases	M	-	Iran	-	-	-	-	-	SCZD	-	NRG1	NRG1	1	45	Maryam Hatami
00134063	CasFhe	PubMed: Yoosefee 2016	63 female cases	F	-	Iran	-	-	-	-	-	SCZD	-	NRG1	NRG1	1	63	Maryam Hatami
00134064	CasFho	PubMed: Yoosefee 2016	26 female cases	F	-	Iran	-	-	-	-	-	SCZD	-	NRG1	NRG1	1	26	Maryam Hatami
00207897	RIKEN twins	PubMed: Vadgama 2019, Journal: Vadgama 2019	MZ twins, Asian, age unknown. Proband diagnosed with schizophrenia, MZ twin diagnosed with schizotypal personality disorder.	M	-	-	-	-	-	-	-	SCZD	Proband was diagnosed with schizophrenia. MZ twin was diagnosed with schizotypal personality disorder.	-	GABRR3, PCLO, SEMA6C	4	2	Nirmal Vadgama
00210055	IP16	PubMed: Vadgama 2019, Journal: Vadgama 2019	-	M	-	-	-	-	-	-	-	SCZD	Has unaffected MZ twin	-	VLDLR	2	1	Nirmal Vadgama
00386912	trio 58	PubMed: McCarthy et al., 2014	-	F	-	-	-	-	-	-	-	SCZD	Delayed developmental milestones and had supported schooling for secondary education and received support for learning disability. Diagnosed with treatment-resistant schizophrenia following a prolonged episode of psychosis with persecutory delusions, auditory hallucinations, bizarre behavior and self-neglect. Failed to respond to therapeutic trials of at least 2 antipsychotic medications, but has made a good functional recovery with Clozapine.	-	AUTS2	1	1	Alexander Groffen
00403997	-	PubMed: Fromer 2014	-	-	-	-	-	-	-	-	-	SCZD	-	-	ASH1L	1	1	Johan den Dunnen
00415293	06C58462	PubMed: Kozlova 2022, Journal: Kozlova 2022	-	F	-	United States	-	-	-	-	-	SCZD	schizophrenia, depressive disorder NOS; completed 9th grade; COPD; hypothyroidism; migraines; stomach ulcers; unspecified learning disorder or hyperactivity	OTUD7A	OTUD7A	1	1	Johan den Dunnen
00415294	06C55679	PubMed: Kozlova 2022, Journal: Kozlova 2022	-	M	-	United States	-	-	-	-	-	SCZD	schizophrenia; bipolar disorder NOS, amphetamine abuse; completed 12th grade, high school graduate; insulin dependent diabetes mellitus, hepatitis C, hypercholesterolemia, hypothyroidism	OTUD7A	OTUD7A	1	1	Johan den Dunnen
00415295	05C51954	PubMed: Kozlova 2022, Journal: Kozlova 2022	-	M	-	United States	-	-	-	-	-	SCZD	schizophrenia; alcohol dependence, cocaine dependence; completed 10th grade, later got a GED; hepatitis C, appendectomy, pancreatitis, hernia, born Rh factor positive	OTUD7A	OTUD7A	1	1	Johan den Dunnen
00449868	-	-	-	F	-	-	-	-	-	-	-	SCZD	Neonatal hypotonia, Delayed speech and language development, Scoliosis, Schizophrenia, Unilateral renal agenesis	-	AHDC1	1	1	Camille Verebi
00449869	-	-	-	F	-	-	-	-	-	-	-	SCZD	Short stature, Psychomotor delay, Intellectual deficiency, moderate, Attention deficit hyperactivity disorder, Sleep abnormality, Microcephaly	-	ATP9A	2	1	Camille Verebi
00449870	-	-	-	M	-	-	-	-	-	-	-	SCZD	Autism, Tall stature, Macrocephaly, Schizophrenia	-	CHD8	1	1	Camille Verebi
00449871	-	-	-	M	-	-	-	-	-	-	-	SCZD	Schizophrenia, Scoliosis, Aplasia/Hypoplasia of the cerebellar vermis, Neurodevelopmental delay	-	DLL1	1	1	Camille Verebi
00449872	-	-	-	M	-	-	-	-	-	-	-	SCZD	Schizophrenia, Increased circulating prolactin concentration, Global developmental delay, Autism	-	FAAH2	1	1	Camille Verebi
00449873	-	-	-	F	-	-	-	-	-	-	-	SCZD	Schizophrenia, Global developmental delay, Seizure, Obesity, Depression	-	KANSL1	1	1	Camille Verebi
00449874	-	-	-	M	-	-	-	-	-	-	-	SCZD	Schizophrenia, Global developmental delay, Attention deficit hyperactivity disorder, Autism,	-	MACF1	1	1	Camille Verebi
00449875	-	-	-	F	-	-	-	-	-	-	-	SCZD	Schizophrenia, Autism,	-	TRIP12	1	1	Camille Verebi
00449876	-	-	-	F	-	-	-	-	-	-	-	SCZD	Schizophrenia, Attention deficit hyperactivity disorder, Scoliosis, Precocious puberty, Macrocephaly	-	UBR5	1	1	Camille Verebi
00449877	-	-	-	F	-	-	-	-	-	-	-	SCZD	Schizophrenia, Global developmental delay, Abnormality of the face, Microcephaly	-	ASMT	1	1	Camille Verebi
00449878	-	-	-	M	-	-	-	-	-	-	-	SCZD	Schizophrenia, Autism, Abnormality of the face	-	ASH1L	1	1	Camille Verebi
00455157	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	SCZD	-	-	CHD8	1	1	Johan den Dunnen
00455158	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	SCZD	-	-	CHD8	1	1	Johan den Dunnen
00455159	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	SCZD	-	-	CHD8	1	2	Johan den Dunnen
00455162	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	SCZD	-	-	EHMT1	1	5	Johan den Dunnen
00455163	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	SCZD	-	-	SETD1A	1	1	Johan den Dunnen
00455164	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	SCZD	-	-	SETD1A	1	3	Johan den Dunnen
00455166	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	SCZD	-	-	SETD1A	1	1	Johan den Dunnen
00466454	Pat5	PubMed: Takata 2014, Journal: Takata 2014	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United States	African-American	-	-	-	-	SCZD	-	-	SETD1A	1	1	Johan den Dunnen
00466455	Pat5	PubMed: Takata 2014, Journal: Takata 2014	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United States	white	-	-	-	-	SCZD	-	-	SETD1A	1	1	Johan den Dunnen
00466456	Pat1	PubMed: Takata 2014, Journal: Takata 2014	2-generation family, 1 affected, unaffected non-carrier paren	-	-	United States	white	-	-	-	-	SCZD	-	-	CEP104	1	1	Johan den Dunnen
00466457	Pat2	PubMed: Takata 2014, Journal: Takata 2014	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United States	African-American	-	-	-	-	SCZD	-	-	ITPR2	1	1	Johan den Dunnen
00466458	Pat3	PubMed: Takata 2014, Journal: Takata 2014	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United States	African-American	-	-	-	-	SCZD	-	-	INHBC	1	1	Johan den Dunnen
00466513	patient	PubMed: Alkelai 2023	-	-	-	Israel	jew	-	-	-	-	SCZD	see paper; ..., neurological condition; childhood-onset schizophrenia	-	MICU1	1	1	Johan den Dunnen

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Global Variome shared LOVD

MAP3K1 (mitogen-activated protein kinase kinase kin...)