NDDVD - Neurodegenerative Diseases Variation Database
TPP1 (tripeptidyl peptidase I)
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Curator:
Y Yang
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View TPP1 gene homepage
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View all transcripts of gene TPP1
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View all variants affecting transcripts
View unique variants in gene TPP1
View all variants in gene TPP1
Full data view for gene TPP1
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View all individuals with variants in gene TPP1
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View all diseases associated with gene TPP1
Create a new disease information entry
View available phenotype columns
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View all screenings for gene TPP1
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All individuals with variants in gene TPP1
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.
95 entries on 1 page. Showing entries 1 - 95.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00002627
-
-
-
NCL
-
1
1
Y Yang
00002628
-
-
-
NCL
-
1
1
Y Yang
00002629
-
-
-
NCL
-
1
1
Y Yang
00002630
-
-
-
NCL
-
1
1
Y Yang
00002631
-
-
-
NCL
-
1
1
Y Yang
00002632
-
-
-
NCL
-
1
1
Y Yang
00002633
-
-
-
NCL
-
1
1
Y Yang
00002634
-
-
-
NCL
-
1
1
Y Yang
00002635
-
-
-
NCL
-
1
1
Y Yang
00002636
-
-
-
NCL
-
1
1
Y Yang
00002637
-
-
-
NCL
-
1
1
Y Yang
00002638
-
-
-
NCL
-
1
1
Y Yang
00002639
-
-
-
NCL
-
1
1
Y Yang
00002640
-
-
-
NCL
-
1
1
Y Yang
00002641
-
-
-
NCL
-
1
1
Y Yang
00002642
-
-
-
NCL
-
1
1
Y Yang
00002643
-
-
-
NCL
-
1
1
Y Yang
00002644
-
-
-
NCL
-
1
1
Y Yang
00002645
-
-
-
NCL
-
1
1
Y Yang
00002646
-
-
-
NCL
-
1
1
Y Yang
00002647
-
-
-
NCL
-
1
1
Y Yang
00002648
-
-
-
NCL
-
1
1
Y Yang
00002649
-
-
-
NCL
-
1
1
Y Yang
00002650
-
-
-
NCL
-
1
1
Y Yang
00002651
-
-
-
NCL
-
1
1
Y Yang
00002652
-
-
-
NCL
-
1
1
Y Yang
00002653
-
-
-
NCL
-
1
1
Y Yang
00002654
-
-
-
NCL
-
1
1
Y Yang
00002655
-
-
-
NCL
-
1
1
Y Yang
00002656
-
-
-
NCL
-
1
1
Y Yang
00002657
-
-
-
NCL
-
1
1
Y Yang
00002658
-
-
-
NCL
-
1
1
Y Yang
00002659
-
-
-
NCL
-
1
1
Y Yang
00002660
-
-
-
NCL
-
1
1
Y Yang
00002661
-
-
-
NCL
-
1
1
Y Yang
00002662
-
-
-
NCL
-
1
1
Y Yang
00002663
-
-
-
NCL
-
1
1
Y Yang
00002664
-
-
-
NCL
-
1
1
Y Yang
00002665
-
-
-
NCL
-
1
1
Y Yang
00002666
-
-
-
NCL
-
1
1
Y Yang
00002667
-
-
-
NCL
-
1
1
Y Yang
00002668
-
-
-
NCL
-
1
1
Y Yang
00002669
-
-
-
NCL
-
1
1
Y Yang
00002670
-
-
-
NCL
-
1
1
Y Yang
00002671
-
-
-
NCL
-
1
1
Y Yang
00002672
-
-
-
NCL
-
1
1
Y Yang
00002673
-
-
-
NCL
-
1
1
Y Yang
00002674
-
-
-
NCL
-
1
1
Y Yang
00002675
-
-
-
NCL
-
1
1
Y Yang
00002676
-
-
-
NCL
-
1
1
Y Yang
00002677
-
-
-
NCL
-
1
1
Y Yang
00002678
-
-
-
NCL
-
1
1
Y Yang
00002679
-
-
-
NCL
-
1
1
Y Yang
00002680
-
-
-
NCL
-
1
1
Y Yang
00002681
-
-
-
NCL
-
1
1
Y Yang
00002682
-
-
-
NCL
-
1
1
Y Yang
00002683
-
-
-
NCL
-
1
1
Y Yang
00002684
-
-
-
NCL
-
1
1
Y Yang
00002685
-
-
-
NCL
-
1
1
Y Yang
00002686
-
-
-
NCL
-
1
1
Y Yang
00002687
-
-
-
NCL
-
1
1
Y Yang
00002688
-
-
-
NCL
-
1
1
Y Yang
00002689
-
-
-
NCL
-
1
1
Y Yang
00002690
-
-
-
NCL
-
1
1
Y Yang
00002691
-
-
-
NCL
-
1
1
Y Yang
00002692
-
-
-
NCL
-
1
1
Y Yang
00002693
-
-
-
NCL
-
1
1
Y Yang
00002694
-
-
-
NCL
-
1
1
Y Yang
00002695
-
-
-
NCL
-
1
1
Y Yang
00002860
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002861
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002862
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002863
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Czech Republic
-
NCL
-
1
1
Y Yang
00002864
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Canada
-
NCL
-
1
1
Y Yang
00002865
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002866
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002867
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Italy
-
NCL
-
1
1
Y Yang
00002868
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Italy
-
NCL
-
1
1
Y Yang
00002869
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Spain
-
NCL
-
1
1
Y Yang
00002870
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002871
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Spain
-
NCL
-
1
1
Y Yang
00002872
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Italy
-
NCL
-
1
1
Y Yang
00002873
Kousi M1, Lehesjoki AE, Mole SE.(2012)
The Netherlands
-
NCL
-
1
1
Y Yang
00002874
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Spain
-
NCL
-
1
1
Y Yang
00002875
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002876
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Belgium
-
NCL
-
1
1
Y Yang
00002877
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002878
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002879
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002880
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002881
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Portugal
-
NCL
-
1
1
Y Yang
00002882
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Slovakia
-
NCL
-
1
1
Y Yang
00005713
Yu F et al. (2015)
-
-
NCL
-
1
1
XY Liu
00005714
Yu F et al. (2015)
-
-
NCL
-
1
1
XY Liu
00005718
Saini AG et al. (2016)
-
-
NCL
-
1
1
XY Liu
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Legend
How to query
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