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.
|
How to query |
« First |
Prev |
|
1 |
2 |
3 |
|
Next |
Last » |
Symbol
|
Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
ABCA7 |
ATP binding cassette subfamily A member 7 |
19 |
p13.3 |
1 |
5 |
5 |
2017-03-16 |
AD |
ADCY5 |
adenylate cyclase 5 |
3 |
q21.1 |
1 |
1 |
1 |
2017-05-12 |
DMD |
ADORA1 |
adenosine A1 receptor |
1 |
q32.1 |
1 |
1 |
1 |
2017-06-18 |
PD |
AFG3L2 |
AFG3 like matrix AAA peptidase subunit 2 |
18 |
p11.21 |
1 |
4 |
4 |
2017-06-23 |
OPA, SCA |
AGBL3 |
ATP/GTP binding protein like 3 |
7 |
q33 |
1 |
1 |
1 |
2017-03-21 |
AD |
ALS2 |
amyotrophic lateral sclerosis 2 (juvenile) |
2 |
q33-q35 |
1 |
25 |
23 |
2024-01-29 |
ALS |
ANG |
angiogenin, ribonuclease, RNase A family, 5 |
14 |
q11.1-q11.2 |
1 |
32 |
21 |
2024-01-16 |
ALS |
ANXA11 |
annexin A11 |
10 |
q22.3 |
1 |
6 |
6 |
2024-01-23 |
ALS |
APEX1 |
APEX nuclease (multifunctional DNA repair enzyme) 1 |
14 |
q11.2 |
1 |
1 |
1 |
2015-10-23 |
ALS |
APOA1 |
apolipoprotein A-I |
11 |
q23-q24 |
1 |
1 |
1 |
2015-10-23 |
FAN |
APOE |
apolipoprotein E |
19 |
q13.32 |
1 |
2 |
2 |
2017-03-16 |
AD |
APP |
amyloid beta (A4) precursor protein |
21 |
q21.2 |
1 |
74 |
38 |
2017-06-29 |
AD |
ARHGEF28 |
Rho guanine nucleotide exchange factor (GEF) 28 |
5 |
q13.2 |
1 |
1 |
1 |
2023-12-21 |
ALS |
ASPA |
aspartoacylase |
17 |
p13.3 |
1 |
86 |
67 |
2017-11-07 |
CD |
ATM |
ATM serine/threonine kinase |
11 |
q22.3 |
1 |
5 |
5 |
2017-05-12 |
DMD |
ATP1A3 |
ATPase, Na+/K+ transporting, alpha 3 polypeptide |
19 |
q13.2 |
1 |
11 |
8 |
2015-10-23 |
DMD |
ATP7A |
ATPase, Cu++ transporting, alpha polypeptide |
X |
q21.1 |
1 |
163 |
144 |
2017-06-28 |
MK |
ATP7B |
ATPase, Cu++ transporting, beta polypeptide |
13 |
q14.3 |
1 |
164 |
118 |
2017-06-29 |
WD |
ATP8B3 |
ATPase phospholipid transporting 8B3 |
19 |
p13.3 |
1 |
1 |
1 |
2017-03-21 |
AD |
ATXN2 |
ataxin 2 |
12 |
q24.12 |
1 |
1 |
1 |
2024-01-25 |
- |
C10orf2 |
chromosome 10 open reading frame 2 |
10 |
q24 |
1 |
8 |
8 |
2017-06-22 |
SCA |
C16orf96 |
chromosome 16 open reading frame 96 |
16 |
p13.3 |
1 |
1 |
1 |
2017-03-21 |
AD |
C3orf20 |
chromosome 3 open reading frame 20 |
3 |
p25.1 |
1 |
1 |
1 |
2017-03-21 |
AD |
C9orf72 |
chromosome 9 open reading frame 72 |
9 |
p21.2 |
3 |
17 |
6 |
2024-01-16 |
ALS |
CACNA1A |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
19 |
p13 |
1 |
5 |
4 |
2015-10-23 |
SCA |
CACNA1G |
calcium voltage-gated channel subunit alpha1 G |
17 |
q21.33 |
1 |
1 |
1 |
2017-06-26 |
SCA |
CASS4 |
Cas scaffolding protein family member 4 |
20 |
q13.31 |
1 |
1 |
1 |
2017-03-16 |
AD |
CCNF |
cyclin F |
16 |
p13.3 |
1 |
13 |
11 |
2024-01-09 |
ALS, FTLD |
CD2AP |
CD2 associated protein |
6 |
p12.3 |
1 |
1 |
1 |
2017-03-14 |
AD |
CD33 |
CD33 molecule |
19 |
q13.41 |
1 |
2 |
2 |
2017-03-14 |
AD |
CDKL5 |
cyclin-dependent kinase-like 5 |
X |
p22 |
1 |
65 |
59 |
2017-06-29 |
RTT |
CELF1 |
CUGBP Elav-like family member 1 |
11 |
p11.2 |
1 |
1 |
1 |
2017-03-15 |
AD |
CENPJ |
centromere protein J |
13 |
q12.12-q12.13 |
1 |
1 |
1 |
2017-03-21 |
AD |
CFAP70 |
cilia and flagella associated protein 70 |
10 |
q22.2 |
1 |
1 |
1 |
2017-03-21 |
AD |
CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
22 |
q11.23 |
2 |
24 |
22 |
2024-01-12 |
ALS, FTLD |
CHGB |
chromogranin B |
20 |
p12.3 |
1 |
1 |
1 |
2024-01-04 |
AD, ALS |
CHMP2B |
charged multivesicular body protein 2B |
3 |
p12.1 |
1 |
11 |
9 |
2023-11-16 |
AD, ALS, FTLD |
CLCN1 |
chloride channel, voltage-sensitive 1 |
7 |
q12 |
1 |
110 |
100 |
2017-06-02 |
MC |
CLCN6 |
chloride channel, voltage-sensitive 6 |
1 |
p36 |
1 |
3 |
3 |
2015-10-23 |
NCL |
CLN3 |
ceroid-lipofuscinosis, neuronal 3 |
16 |
p12 |
1 |
58 |
53 |
2015-10-23 |
NCL |
CLN5 |
ceroid-lipofuscinosis, neuronal 5 |
13 |
q21.2-q32 |
1 |
45 |
41 |
2017-06-12 |
NCL |
CLN6 |
ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
15 |
q23 |
1 |
64 |
57 |
2017-06-09 |
NCL |
CLN8 |
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) |
8 |
p23.3 |
1 |
24 |
24 |
2017-06-09 |
NCL |
CLU |
clusterin |
8 |
p21.1 |
1 |
3 |
3 |
2017-03-16 |
AD |
COQ2 |
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
4 |
q21.23 |
1 |
24 |
22 |
2017-06-07 |
MSA |
CR1 |
complement C3b/C4b receptor 1 (Knops blood group) |
1 |
q32.2 |
1 |
3 |
3 |
2017-03-14 |
AD |
CST3 |
cystatin C |
20 |
p11.21 |
1 |
2 |
1 |
2017-03-08 |
AD |
CSTB |
cystatin B (stefin B) |
21 |
q22.3 |
1 |
14 |
11 |
2017-06-28 |
ULD |
CTSD |
cathepsin D |
11 |
p15.5 |
1 |
3 |
3 |
2015-10-23 |
NCL |
CTSF |
cathepsin F |
11 |
q13.2 |
1 |
1 |
1 |
2017-03-20 |
AD |
CYLD |
CYLD lysine 63 deubiquitinase |
16 |
q12.1 |
1 |
1 |
1 |
2024-01-18 |
ALS, FTLD |
CYP2D6 |
cytochrome P450, family 2, subfamily D, polypeptide 6 |
22 |
q13.1 |
1 |
1 |
1 |
2015-10-23 |
DLB |
DCAF8 |
DDB1 and CUL4 associated factor 8 |
1 |
q23.2 |
1 |
1 |
1 |
2017-05-24 |
HMSN |
DCTN1 |
dynactin 1 |
2 |
p13 |
1 |
9 |
9 |
2024-01-25 |
ALS, PSP |
DNAJC13 |
DnaJ (Hsp40) homolog, subfamily C, member 13 |
3 |
q22.1 |
1 |
19 |
15 |
2017-06-05 |
DLB, PD |
DNAJC7 |
DnaJ heat shock protein family (Hsp40) member C7 |
17 |
q21.2 |
1 |
2 |
2 |
2024-01-23 |
ALS |
DPYSL3 |
dihydropyrimidinase like 3 |
5 |
q32 |
1 |
1 |
1 |
2023-12-01 |
ALS |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
14 |
q32.31 |
1 |
1 |
1 |
2017-05-25 |
HMSN |
EBLN1 |
endogenous Bornavirus-like nucleoprotein 1 |
10 |
p12.31 |
1 |
1 |
1 |
2017-03-21 |
AD |
EGR2 |
early growth response 2 |
10 |
q21.1 |
1 |
4 |
4 |
2017-05-25 |
HMSN |
ELOVL4 |
ELOVL fatty acid elongase 4 |
6 |
q14.1 |
1 |
3 |
3 |
2017-06-23 |
SCA |
ELOVL5 |
ELOVL fatty acid elongase 5 |
6 |
p12.1 |
1 |
3 |
2 |
2017-06-23 |
SCA |
EPM2A |
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) |
6 |
q24 |
1 |
63 |
50 |
2017-06-01 |
LD |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 |
2 |
q34 |
1 |
1 |
1 |
2024-01-17 |
- |
ERCC5 |
excision repair cross-complementation group 5 |
13 |
q22-q34 |
1 |
25 |
23 |
2015-10-23 |
CS |
ERCC6 |
excision repair cross-complementation group 6 |
10 |
q11 |
1 |
73 |
71 |
2017-05-11 |
CS |
ERCC8 |
excision repair cross-complementation group 8 |
5 |
q12.1 |
1 |
26 |
24 |
2017-06-29 |
CS |
ERLIN1 |
ER lipid raft associated 1 |
10 |
q24.31 |
1 |
1 |
1 |
2024-01-11 |
ALS |
FAM134B |
family with sequence similarity 134, member B |
5 |
p15.1 |
1 |
4 |
3 |
2015-10-23 |
HSAN |
FAM47E |
family with sequence similarity 47 member E |
4 |
q21.1 |
1 |
1 |
1 |
2017-03-21 |
AD |
FBXO7 |
F-box protein 7 |
22 |
q12.3 |
1 |
1 |
1 |
2017-06-17 |
PD |
FERMT2 |
fermitin family member 2 |
14 |
q22.1 |
1 |
1 |
1 |
2017-03-15 |
AD |
FGD4 |
FYVE, RhoGEF and PH domain containing 4 |
12 |
p11.1 |
1 |
7 |
7 |
2015-10-23 |
HMSN |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
6 |
q21 |
1 |
5 |
5 |
2015-10-23 |
HMSN |
FMR1 |
fragile X messenger ribonucleoprotein 1 |
X |
q27.3 |
1 |
1 |
1 |
2023-11-02 |
- |
FOXG1 |
forkhead box G1 |
14 |
q12 |
1 |
22 |
19 |
2017-06-20 |
RTT |
FPR1 |
formyl peptide receptor 1 |
19 |
q13.41 |
1 |
1 |
1 |
2017-03-21 |
AD |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
4 |
q21.21 |
1 |
1 |
1 |
2017-03-21 |
AD |
FUS |
FUS RNA binding protein |
16 |
p11.2 |
1 |
132 |
74 |
2024-01-29 |
ALS, FTLD |
GAL3ST4 |
galactose-3-O-sulfotransferase 4 |
7 |
q22.1 |
1 |
1 |
1 |
2017-03-21 |
AD |
GBA |
glucosidase, beta, acid |
1 |
q22 |
1 |
5 |
5 |
2015-10-23 |
DLB |
GCH1 |
GTP cyclohydrolase 1 |
14 |
q22.1-q22.2 |
1 |
74 |
61 |
2017-05-15 |
DMD |
GDAP1 |
ganglioside induced differentiation associated protein 1 |
8 |
q13.3 |
1 |
16 |
15 |
2017-05-26 |
HMSN |
GFAP |
glial fibrillary acidic protein |
17 |
q21 |
1 |
144 |
106 |
2023-11-02 |
ALXDRD, FTLD |
GJB1 |
gap junction protein, beta 1, 32kDa |
X |
q13.1 |
1 |
34 |
34 |
2017-05-24 |
HMSN |
GLE1 |
GLE1 RNA export mediator |
9 |
q34.13 |
1 |
1 |
1 |
2023-12-22 |
ALS |
GNAL |
G protein subunit alpha L |
18 |
p11.21 |
1 |
5 |
5 |
2017-05-15 |
DMD |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
9 |
p13.3 |
1 |
1 |
1 |
2024-01-11 |
- |
GPR45 |
G protein-coupled receptor 45 |
2 |
q12.1 |
1 |
1 |
1 |
2017-03-20 |
AD |
GRN |
granulin |
17 |
q21.32 |
1 |
99 |
80 |
2024-01-22 |
ALS, FTLD |
GSK3B |
glycogen synthase kinase 3 beta |
3 |
q13.3 |
1 |
1 |
1 |
2015-10-23 |
FTLD |
GSN |
gelsolin |
9 |
q33 |
1 |
1 |
1 |
2015-10-23 |
FAN |
HDC |
histidine decarboxylase |
15 |
q21.2 |
1 |
1 |
1 |
2015-10-23 |
TS |
HERC6 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 |
4 |
q22.1 |
1 |
1 |
1 |
2017-03-21 |
AD |
HEXA |
hexosaminidase A (alpha polypeptide) |
15 |
q24.1 |
1 |
2 |
1 |
2015-10-23 |
SMA |
HFE |
hemochromatosis |
6 |
p21.3 |
1 |
5 |
2 |
2023-11-10 |
AD, ALS |
HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
5 |
q13.3 |
1 |
1 |
1 |
2017-03-08 |
AD |
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
12 |
q13.13 |
1 |
2 |
2 |
2024-01-11 |
ALS |
HPRT1 |
hypoxanthine phosphoribosyltransferase 1 |
X |
q26.2 |
1 |
173 |
149 |
2017-06-29 |
LNS |
HSPB2 |
heat shock protein family B (small) member 2 |
11 |
q23.1 |
1 |
1 |
1 |
2017-05-25 |
HMSN |
|
How to query |
« First |
Prev |
|
1 |
2 |
3 |
|
Next |
Last » |