NDDVD - Neurodegenerative Diseases Variation Database
NHLRC1 (NHL repeat containing E3 ubiquitin protein ...)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Y Yang
View all genes
View NHLRC1 gene homepage
View graphs about the NHLRC1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene NHLRC1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene NHLRC1
View all variants in gene NHLRC1
Full data view for gene NHLRC1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene NHLRC1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene NHLRC1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene NHLRC1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All individuals with variants in gene NHLRC1
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
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.
54 entries on 1 page. Showing entries 1 - 54.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00001986
Singh S1, Satishchandra P, Shankar SK, Ganesh S.(2008)
-
-
LD
-
1
1
Y Yang
00001987
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00001988
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00001989
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00001990
"
Lesca G1, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, M'Rrabet A(2010)
-
-
LD
-
1
1
Y Yang
00001991
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00001992
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00001993
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00001994
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00001995
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00001996
Singh S1, Sethi I, Francheschetti S, Riggio C, Avanzini G, Yamakawa K, Delgado-Escueta AV, Ganesh S.(2006)
-
-
LD
-
1
1
Y Yang
00001997
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00001998
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00001999
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00002000
Singh S1, Satishchandra P, Shankar SK, Ganesh S.(2008)
-
-
LD
-
1
1
Y Yang
00002001
Lohi H1, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA.(2007)
-
-
LD
-
1
1
Y Yang
00002002
-
-
-
LD
-
1
1
Y Yang
00002003
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00002004
Singh S1, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S.(2005)
-
-
LD
-
1
1
Y Yang
00002005
Singh S1, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S.(2005)
-
-
LD
-
1
1
Y Yang
00002006
Traoré M1, Landouré G, Motley W, Sangaré M, Meilleur K, Coulibaly S, Traoré S, Niaré B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck KH.(2009)
-
-
LD
-
1
1
Y Yang
00002007
Lohi H1, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA.(2007)
-
-
LD
-
1
1
Y Yang
00002008
Singh S1, Sethi I, Francheschetti S, Riggio C, Avanzini G, Yamakawa K, Delgado-Escueta AV, Ganesh S.(2006)
-
-
LD
-
1
1
Y Yang
00002009
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00002010
Singh S1, Sethi I, Francheschetti S, Riggio C, Avanzini G, Yamakawa K, Delgado-Escueta AV, Ganesh S.(2006)
-
-
LD
-
1
1
Y Yang
00002011
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00002012
Singh S1, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S.(2005)
-
-
LD
-
1
1
Y Yang
00002013
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00002014
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00002015
Singh S1, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S.(2005)
-
-
LD
-
1
1
Y Yang
00002016
Singh S1, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S.(2005)
-
-
LD
-
1
1
Y Yang
00002017
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00002018
Gómez-Abad C1, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.(2005)
-
-
LD
-
1
1
Y Yang
00002019
Singh S1, Satishchandra P, Shankar SK, Ganesh S.(2008)
-
-
LD
-
1
1
Y Yang
00002020
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00002021
Lohi H1, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA.(2007)
-
-
LD
-
1
1
Y Yang
00002022
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00002023
"
Franceschetti S1, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D(2006)
-
-
LD
-
1
1
Y Yang
00002024
"
Chan EM1, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV(2003)
-
-
LD
-
1
1
Y Yang
00002025
-
-
-
LD
-
1
1
Y Yang
00002026
Lohi H1, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA.(2007)
-
-
LD
-
1
1
Y Yang
00002027
Lohi H1, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA.(2007)
-
-
LD
-
1
1
Y Yang
00002028
-
-
-
LD
-
1
1
Y Yang
00002035
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00002036
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00002037
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00002038
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00002039
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00002040
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00002041
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00002042
"
Ferlazzo E1, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F(2014)
-
-
LD
-
1
1
Y Yang
00005632
Lanoiselée HM et al. (2014)
Turkish
-
LD
-
1
1
XY Liu
00005633
Kecmanović M et al. (2016)
-
-
LD
-
1
1
XY Liu
00005634
Kecmanović M et al. (2016)
-
-
LD
-
1
1
XY Liu
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center