NDDVD - Neurodegenerative Diseases Variation Database
PARK2 (parkin RBR E3 ubiquitin protein ligase)
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Curator:
Y Yang
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View PARK2 gene homepage
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View all transcripts of gene PARK2
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View all variants affecting transcripts
View unique variants in gene PARK2
View all variants in gene PARK2
Full data view for gene PARK2
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View all individuals with variants in gene PARK2
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View all diseases associated with gene PARK2
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View available phenotype columns
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View all screenings for gene PARK2
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All individuals with variants in gene PARK2
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.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
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'
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.
153 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00003448
-
-
-
PD
-
1
1
Y Yang
00003449
-
-
-
PD
-
1
1
Y Yang
00003450
-
-
-
PD
-
1
1
Y Yang
00003451
-
-
-
PD
-
1
1
Y Yang
00003452
-
-
-
PD
-
1
1
Y Yang
00003453
-
-
-
PD
-
1
1
Y Yang
00003454
-
-
-
PD
-
1
1
Y Yang
00003455
-
-
-
PD
-
1
1
Y Yang
00003456
-
-
-
PD
-
1
1
Y Yang
00003457
-
-
-
PD
-
1
1
Y Yang
00003458
-
-
-
PD
-
1
1
Y Yang
00003459
-
-
-
PD
-
1
1
Y Yang
00003460
-
-
-
PD
-
1
1
Y Yang
00003461
-
-
-
PD
-
1
1
Y Yang
00003462
-
-
-
PD
-
1
1
Y Yang
00003463
-
-
-
PD
-
1
1
Y Yang
00003464
-
-
-
PD
-
1
1
Y Yang
00003465
-
-
-
PD
-
1
1
Y Yang
00003466
-
-
-
PD
-
1
1
Y Yang
00003467
-
-
-
PD
-
1
1
Y Yang
00003468
-
-
-
PD
-
1
1
Y Yang
00003469
-
-
-
PD
-
1
1
Y Yang
00003470
-
-
-
PD
-
1
1
Y Yang
00003471
-
-
-
PD
-
1
1
Y Yang
00003472
-
-
-
PD
-
1
1
Y Yang
00003473
-
-
-
PD
-
1
1
Y Yang
00003474
-
-
-
PD
-
1
1
Y Yang
00003475
-
-
-
PD
-
1
1
Y Yang
00003476
-
-
-
PD
-
1
1
Y Yang
00003477
-
-
-
PD
-
1
1
Y Yang
00003478
-
-
-
PD
-
1
1
Y Yang
00003479
-
-
-
PD
-
1
1
Y Yang
00003480
-
-
-
PD
-
1
1
Y Yang
00003481
-
-
-
PD
-
1
1
Y Yang
00003482
-
-
-
PD
-
1
1
Y Yang
00003483
-
-
-
PD
-
1
1
Y Yang
00003484
-
-
-
PD
-
1
1
Y Yang
00003485
-
-
-
PD
-
1
1
Y Yang
00003486
-
-
-
PD
-
1
1
Y Yang
00003487
-
-
-
PD
-
1
1
Y Yang
00003488
-
-
-
PD
-
1
1
Y Yang
00003489
-
-
-
PD
-
1
1
Y Yang
00003490
-
-
-
PD
-
1
1
Y Yang
00003491
-
-
-
PD
-
1
1
Y Yang
00003492
-
-
-
PD
-
1
1
Y Yang
00003493
-
-
-
PD
-
1
1
Y Yang
00003494
-
-
-
PD
-
1
1
Y Yang
00003495
-
-
-
PD
-
1
1
Y Yang
00003496
-
-
-
PD
-
1
1
Y Yang
00003497
-
-
-
PD
-
1
1
Y Yang
00003498
-
-
-
PD
-
1
1
Y Yang
00003499
-
-
-
PD
-
1
1
Y Yang
00003500
-
-
-
PD
-
1
1
Y Yang
00003501
-
-
-
PD
-
1
1
Y Yang
00003502
-
-
-
PD
-
1
1
Y Yang
00003503
-
-
-
PD
-
1
1
Y Yang
00003504
-
-
-
PD
-
1
1
Y Yang
00003505
-
-
-
PD
-
1
1
Y Yang
00003506
-
-
-
PD
-
1
1
Y Yang
00003507
-
-
-
PD
-
1
1
Y Yang
00003508
-
-
-
PD
-
1
1
Y Yang
00003509
-
-
-
PD
-
1
1
Y Yang
00003510
-
-
-
PD
-
1
1
Y Yang
00003511
-
-
-
PD
-
1
1
Y Yang
00003512
-
-
-
PD
-
1
1
Y Yang
00003513
-
-
-
PD
-
1
1
Y Yang
00003514
-
-
-
PD
-
1
1
Y Yang
00003515
-
-
-
PD
-
1
1
Y Yang
00003516
-
-
-
PD
-
1
1
Y Yang
00003517
-
-
-
PD
-
1
1
Y Yang
00003518
-
-
-
PD
-
1
1
Y Yang
00003519
-
-
-
PD
-
1
1
Y Yang
00003520
-
-
-
PD
-
1
1
Y Yang
00003521
-
-
-
PD
-
1
1
Y Yang
00003522
-
-
-
PD
-
1
1
Y Yang
00003523
-
-
-
PD
-
1
1
Y Yang
00003524
-
-
-
PD
-
1
1
Y Yang
00003525
-
-
-
PD
-
1
1
Y Yang
00003526
-
-
-
PD
-
1
1
Y Yang
00003527
-
-
-
PD
-
1
1
Y Yang
00003528
-
-
-
PD
-
1
1
Y Yang
00003529
-
-
-
PD
-
1
1
Y Yang
00003530
-
-
-
PD
-
1
1
Y Yang
00003531
-
-
-
PD
-
1
1
Y Yang
00003532
-
-
-
PD
-
1
1
Y Yang
00003533
-
-
-
PD
-
1
1
Y Yang
00003534
-
-
-
PD
-
1
1
Y Yang
00003535
-
-
-
PD
-
1
1
Y Yang
00003536
-
-
-
PD
-
1
1
Y Yang
00003537
-
-
-
PD
-
1
1
Y Yang
00003538
-
-
-
PD
-
1
1
Y Yang
00003539
-
-
-
PD
-
1
1
Y Yang
00003540
-
-
-
PD
-
1
1
Y Yang
00003541
-
-
-
PD
-
1
1
Y Yang
00003542
-
-
-
PD
-
1
1
Y Yang
00003543
-
-
-
PD
-
1
1
Y Yang
00003544
-
-
-
PD
-
1
1
Y Yang
00003545
-
-
-
PD
-
1
1
Y Yang
00003546
-
-
-
PD
-
1
1
Y Yang
00003547
-
-
-
PD
-
1
1
Y Yang
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