NDDVD - Neurodegenerative Diseases Variation Database
PPT1 (palmitoyl-protein thioesterase 1)
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Curator:
Y Yang
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View PPT1 gene homepage
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View all transcripts of gene PPT1
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View all variants affecting transcripts
View unique variants in gene PPT1
View all variants in gene PPT1
Full data view for gene PPT1
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View all individuals with variants in gene PPT1
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View all diseases associated with gene PPT1
Create a new disease information entry
View available phenotype columns
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View all screenings for gene PPT1
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Enable more custom columns
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All individuals with variants in gene PPT1
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.
67 entries on 1 page. Showing entries 1 - 67.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00002575
-
-
-
NCL
-
1
1
Y Yang
00002576
-
-
-
NCL
-
1
1
Y Yang
00002577
-
-
-
NCL
-
1
1
Y Yang
00002578
-
-
-
NCL
-
1
1
Y Yang
00002579
-
-
-
NCL
-
1
1
Y Yang
00002580
-
-
-
NCL
-
1
1
Y Yang
00002581
-
-
-
NCL
-
1
1
Y Yang
00002582
-
-
-
NCL
-
1
1
Y Yang
00002583
-
-
-
NCL
-
1
1
Y Yang
00002584
-
-
-
NCL
-
1
1
Y Yang
00002585
-
-
-
NCL
-
1
1
Y Yang
00002586
-
-
-
NCL
-
1
1
Y Yang
00002587
-
-
-
NCL
-
1
1
Y Yang
00002588
-
-
-
NCL
-
1
1
Y Yang
00002589
-
-
-
NCL
-
1
1
Y Yang
00002590
-
-
-
NCL
-
1
1
Y Yang
00002591
-
-
-
NCL
-
1
1
Y Yang
00002592
-
-
-
NCL
-
1
1
Y Yang
00002593
-
-
-
NCL
-
1
1
Y Yang
00002594
-
-
-
NCL
-
1
1
Y Yang
00002595
-
-
-
NCL
-
1
1
Y Yang
00002596
-
-
-
NCL
-
1
1
Y Yang
00002597
-
-
-
NCL
-
1
1
Y Yang
00002598
-
-
-
NCL
-
1
1
Y Yang
00002599
-
-
-
NCL
-
1
1
Y Yang
00002600
-
-
-
NCL
-
1
1
Y Yang
00002601
-
-
-
NCL
-
1
1
Y Yang
00002602
-
-
-
NCL
-
1
1
Y Yang
00002603
-
-
-
NCL
-
1
1
Y Yang
00002604
-
-
-
NCL
-
1
1
Y Yang
00002605
-
-
-
NCL
-
1
1
Y Yang
00002606
-
-
-
NCL
-
1
1
Y Yang
00002607
-
-
-
NCL
-
1
1
Y Yang
00002608
-
-
-
NCL
-
1
1
Y Yang
00002609
-
-
-
NCL
-
1
1
Y Yang
00002610
-
-
-
NCL
-
1
1
Y Yang
00002611
-
-
-
NCL
-
1
1
Y Yang
00002612
-
-
-
NCL
-
1
1
Y Yang
00002613
-
-
-
NCL
-
1
1
Y Yang
00002614
-
-
-
NCL
-
1
1
Y Yang
00002615
-
-
-
NCL
-
1
1
Y Yang
00002616
-
-
-
NCL
-
1
1
Y Yang
00002617
-
-
-
NCL
-
1
1
Y Yang
00002618
-
-
-
NCL
-
1
1
Y Yang
00002619
-
-
-
NCL
-
1
1
Y Yang
00002620
-
-
-
NCL
-
1
1
Y Yang
00002621
-
-
-
NCL
-
1
1
Y Yang
00002622
-
-
-
NCL
-
1
1
Y Yang
00002623
-
-
-
NCL
-
1
1
Y Yang
00002624
-
-
-
NCL
-
1
1
Y Yang
00002625
-
-
-
NCL
-
1
1
Y Yang
00002626
-
-
-
NCL
-
1
1
Y Yang
00002915
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002916
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002917
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Italy
-
NCL
-
1
1
Y Yang
00002918
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002919
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002920
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002921
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002922
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002923
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002924
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002925
Kousi M1, Lehesjoki AE, Mole SE.(2012)
The Netherlands
-
NCL
-
1
1
Y Yang
00002926
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002927
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Finland
-
NCL
-
1
1
Y Yang
00002928
Miller JN1, Pearce DA.(2013)
-
-
NCL
-
1
1
Y Yang
00005712
Miller JN et al. (2013)
-
-
NCL
-
1
1
XY Liu
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