Disease #00494 (F7D (deficiency, factor VII (F7D)), OMIM:227500)

Official abbreviation	F7D
Name	deficiency, factor VII (F7D)
OMIM ID	227500
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	333
Phenotype entries for this disease	332
Associated with 1 gene	F7
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-07-28 16:19:42 +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.

333 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00080841	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	F7D	Factor VII deficiency (OMIM:227500)	F7	F7	1	1	Daniel Trujillano
00096032	-	PubMed: Carew 1998	M2M2; H2H2; S1S1;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	3	1	Pavithra Rallapalli
00096033	-	PubMed: Arbini 1997	M1M1;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096034	-	PubMed: Giansily-Blaizot 2001	A1A1; H1H1; H6H7; I1I1; M1M1;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096035	-	Tidd 1999	-	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096036	-	PubMed: Carew 1998	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	3	1	Pavithra Rallapalli
00096037	-	PubMed: Millar 2000	A1A2;C1C2;M1M2;5/6	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096038	-	PubMed: Millar 2000	A1A1;C1C1;M1M1;5/5	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096039	-	PubMed: Millar 2000	A1A2;C1C2;M2M2;5/6	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096040	-	PubMed: Giansily-Blaizot 2001	A1A2; M1M2; H1H2; I1I2	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	1	1	Pavithra Rallapalli
00096041	-	PubMed: Wulff 2000	A1A1:P1P1;G1G1;H1H1;7/7;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	3	1	Pavithra Rallapalli
00096042	-	PubMed: Shen 2001	A1A2	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096043	-	PubMed: Peyvandi 2000	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096044	-	PubMed: Ozawa 1998	A1A1; M1M1;	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096045	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;7/7;M1M1;	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	2	1	Pavithra Rallapalli
00096046	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;6/6;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096047	-	PubMed: Peyvandi 2000	-	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	1	1	Pavithra Rallapalli
00096048	-	PubMed: Giansily-Blaizot 2001	A1A1; M1M1; H1H1; I2I2	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096049	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;7/7;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096050	-	PubMed: Millar 2000	A1A1; C1C2; M2M2; 5/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096051	-	-	aa; M2M2; H2H2; I2I2	-	-	-	-	-	-	-	-	F7D	Severe	F7	F7	2	1	Pavithra Rallapalli
00096052	-	PubMed: Millar 2000	A2A2; C2C2; M2M2; 6/6;	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096053	-	-	aa; M1M2; H1H2; I1I2	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096054	-	PubMed: Peyvandi 2000	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096055	-	Tamary 1997	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096056	-	-	aa; M1M2; H1H2; I1I2	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096057	-	PubMed: Giansily-Blaizot 2001	A2A2; M1M2; H1H2; I2I2	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096058	-	PubMed: Millar 2000	A2A2; C2C2; M2M2; 6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096059	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;7/6;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	2	1	Pavithra Rallapalli
00096060	-	PubMed: Peyvandi 2000	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096061	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;7/7;M1M1;	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096062	-	PubMed: Giansily-Blaizot 2001	A1A2; H1H1; H6H7; I1I1; M1M1	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096063	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;6/6;M1M1;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096064	-	PubMed: Giansily-Blaizot 2001	A1A1; M1M1; H1H1; I1I1	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096065	-	Chen 1993	M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096066	-	PubMed: Leonard 1998	M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096067	-	PubMed: Leonard 1998	M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096068	-	PubMed: Leonard 1998	M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096069	-	PubMed: Giansily-Blaizot 2001	A1A1; M1M1; H1H1; I1I1	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096070	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;7/7;M1M1;	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	1	1	Pavithra Rallapalli
00096071	-	PubMed: Millar 2000	A1A1; C1C1; M1M1; 5/5;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096072	-	PubMed: Millar 2000	A1A1; C1C1; M1M1; 5/6;	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	1	1	Pavithra Rallapalli
00096073	-	-	aa; M1M2; H1H2; I1I2	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096074	-	PubMed: Takamiya 1995	-	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096075	-	PubMed: Takamiya 1993	-	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096076	-	PubMed: Chaing 1994	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096077	-	PubMed: Chaing 1994	-	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	2	1	Pavithra Rallapalli
00096078	-	PubMed: McVey 1998	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096079	-	PubMed: Arbini 1996	M1M2;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096080	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;6/6;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096081	-	PubMed: Millar 2000	A1A2; C1C2; M1M2; 6/6	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	2	1	Pavithra Rallapalli
00096082	-	-	A1A1; H1H1; ab; S1S1; M1M1;	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096083	-	PubMed: Millar 2000	A2A2: C1C1; M2M2; 6/6;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096084	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;6/6;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096085	-	PubMed: Giansily-Blaizot 2001	A1A2; M1M1; H1H1; I1I1	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096086	-	PubMed: Bernardi 1993	7/6; A1A1; M2M2;H2H2; S1S1;	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096087	-	PubMed: Wulff 2000	A2A2;P2P2;G2G2;H2H2;7/7;M2M2;	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	3	1	Pavithra Rallapalli
00096088	-	PubMed: Bernardi 1993	7/7; A2A2; H2H2; M2M2;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096089	-	PubMed: Hunault 1999	A2A2; H2H2;M2M2;	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	1	1	Pavithra Rallapalli
00096090	-	PubMed: Millar 2000	A1A2; C1C2; M1M2; 5/6	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	2	1	Pavithra Rallapalli
00096091	-	Kavlie 1993	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096092	-	PubMed: Takamiya 1993	-	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096093	-	Kavlie 1993	-	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096094	-	Kavlie 1997	-	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	2	1	Pavithra Rallapalli
00096095	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096096	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096097	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096098	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096099	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096100	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096101	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096102	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096103	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096104	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096105	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096106	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096107	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096108	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096109	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096110	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096111	-	PubMed: Kavlie 1998	6/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096112	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;7/6;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096113	-	PubMed: Peyvandi 2000	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096114	-	PubMed: Hunault 1999	A1A1;M1M1;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096115	-	PubMed: Millar 2000	A1A2; C2C2; M1M2; 5/7;	-	-	-	-	-	-	-	-	F7D	moderate	F7	F7	1	1	Pavithra Rallapalli
00096116	-	PubMed: Millar 2000	A1A2; C1C2; M1M2; 5/6:	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	1	1	Pavithra Rallapalli
00096117	-	PubMed: Millar 2000	A1A1; C1C1; M2M2; 5/5;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	2	1	Pavithra Rallapalli
00096118	-	PubMed: Millar 2000	A1A2; C1C1; M1M1; 5/5;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli
00096119	-	PubMed: Giansily-Blaizot 2001	A1A1; H1H2; H6H7; I1I2; M1M2;	-	-	-	-	-	-	-	-	F7D	mild	F7	F7	2	1	Pavithra Rallapalli
00096120	-	PubMed: Giansily-Blaizot 2001	A1A2; M1M1; H1H1; I1I1	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096121	-	PubMed: Suto 2000	A1A1;M1M1;	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096122	-	PubMed: Suto 2000	-	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096123	-	PubMed: Suto 2000	-	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096124	-	PubMed: Millar 2000	A1A2; C1C2; M2M2; 5/6;	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	1	1	Pavithra Rallapalli
00096125	-	PubMed: Millar 2000	A1A1; C1C1; M1M1; 5/5	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	1	1	Pavithra Rallapalli
00096126	-	PubMed: Alshinawi 1998	H1H2; M1M2;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096127	-	PubMed: Alshinawi 1998	H1H2; M1M2;	-	-	-	-	-	-	-	-	F7D	asymptomatic	F7	F7	2	1	Pavithra Rallapalli
00096128	-	PubMed: Alshinawi 1998	H1H1;; M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096129	-	PubMed: Wulff 2000	A1A1;P1P1;G1G1;H1H1;6/6;M1M1;	-	-	-	-	-	-	-	-	F7D	unknown	F7	F7	1	1	Pavithra Rallapalli
00096130	-	PubMed: Peyvandi 2000	-	-	-	-	-	-	-	-	-	F7D	severe	F7	F7	2	1	Pavithra Rallapalli

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Global Variome shared LOVD

MOCS1 (molybdenum cofactor synthesis 1)