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 |
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Symbol
|
Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
ABCA4 |
ATP binding cassette subfamily A member 4 |
1 |
p22.1 |
1 |
3 |
2 |
2022-07-06 |
RP (AR) |
ABCC6 |
ATP binding cassette subfamily C member 6 |
16 |
p13.11 |
4 |
0 |
0 |
N/A |
RP (AR) |
ADGRA3 |
adhesion G protein-coupled receptor A3 |
4 |
p15.2 |
2 |
0 |
0 |
N/A |
RP (AR) |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
5 |
q14.3 |
2 |
0 |
0 |
N/A |
RP (AR) |
AHI1 |
Abelson helper integration site 1 |
6 |
q23.3 |
4 |
0 |
0 |
N/A |
RP (AR) |
AIPL1 |
aryl hydrocarbon receptor interacting protein like 1 |
17 |
p13.2 |
8 |
2 |
2 |
2022-07-11 |
RP (AR) |
ALMS1 |
ALMS1 centrosome and basal body associated protein |
2 |
p13.1 |
1 |
1 |
1 |
2022-07-08 |
RP (AR) |
ARL6 |
ADP ribosylation factor like GTPase 6 |
3 |
q11.2 |
3 |
1 |
1 |
2022-07-11 |
RP (AR) |
ATXN7 |
ataxin 7 |
3 |
p14.1 |
0 |
0 |
0 |
N/A |
- |
BBS1 |
Bardet-Biedl syndrome 1 |
11 |
q13.2 |
1 |
0 |
0 |
N/A |
RP (AD), RP (AR) |
BBS10 |
Bardet-Biedl syndrome 10 |
12 |
q21.2 |
0 |
0 |
0 |
N/A |
- |
BBS12 |
Bardet-Biedl syndrome 12 |
4 |
q27 |
0 |
0 |
0 |
N/A |
- |
BBS2 |
Bardet-Biedl syndrome 2 |
16 |
q13 |
1 |
2 |
2 |
2022-07-11 |
RP (AR) |
BBS4 |
Bardet-Biedl syndrome 4 |
15 |
q24.1 |
2 |
0 |
0 |
N/A |
RP (AR) |
BBS5 |
Bardet-Biedl syndrome 5 |
2 |
q31.1 |
3 |
0 |
0 |
N/A |
RP (AR) |
BBS7 |
Bardet-Biedl syndrome 7 |
4 |
q27 |
3 |
0 |
0 |
N/A |
RP (AR) |
BBS9 |
Bardet-Biedl syndrome 9 |
7 |
p14.3 |
4 |
0 |
0 |
N/A |
RP (AR) |
BEST1 |
bestrophin 1 |
11 |
q12.3 |
2 |
1 |
1 |
2022-07-08 |
RP (AD), RP (AR) |
CA4 |
carbonic anhydrase 4 |
17 |
q23.1 |
0 |
0 |
0 |
N/A |
RP (AR) |
CDH23 |
cadherin related 23 |
10 |
q22.1 |
9 |
1 |
1 |
2022-07-09 |
RP (AR) |
CDHR1 |
cadherin related family member 1 |
10 |
q23.1 |
2 |
0 |
0 |
N/A |
RP (AR) |
CEP164 |
centrosomal protein 164 |
11 |
q23.3 |
0 |
0 |
0 |
N/A |
RP (AR) |
CEP290 |
centrosomal protein 290 |
12 |
q21.32 |
1 |
3 |
3 |
2022-07-08 |
RP (AR) |
CERKL |
ceramide kinase like |
2 |
q31.3 |
1 |
2 |
1 |
2022-07-11 |
RP (AR) |
CFAP410 |
cilia and flagella associated protein 410 |
21 |
q22.3 |
7 |
0 |
0 |
N/A |
RP (AR) |
CFAP418 |
cilia and flagella associated protein 418 |
8 |
q22.1 |
3 |
0 |
0 |
N/A |
RP (AR) |
CHM |
CHM Rab escort protein |
X |
q21.2 |
1 |
0 |
0 |
N/A |
RP (XL) |
CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
16 |
p12.1 |
5 |
0 |
0 |
N/A |
RP (AR) |
CLRN1 |
clarin 1 |
3 |
q25.1 |
1 |
0 |
0 |
N/A |
RP (AR) |
CNGA1 |
cyclic nucleotide gated channel subunit alpha 1 |
4 |
p12 |
4 |
0 |
0 |
N/A |
RP (AR) |
CNGA3 |
cyclic nucleotide gated channel subunit alpha 3 |
2 |
q11.2 |
2 |
1 |
1 |
2022-07-11 |
RP (AR) |
CNGB1 |
cyclic nucleotide gated channel subunit beta 1 |
16 |
q21 |
2 |
3 |
3 |
2022-07-11 |
RP (AR) |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
8 |
q21.3 |
0 |
0 |
0 |
N/A |
RP (AR) |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
2 |
q11.2 |
1 |
0 |
0 |
N/A |
RP (AR) |
COL11A1 |
collagen type XI alpha 1 chain |
1 |
p21.1 |
4 |
0 |
0 |
N/A |
RP (AR) |
CRB1 |
crumbs cell polarity complex component 1 |
1 |
q31.3 |
4 |
2 |
2 |
2022-07-11 |
RP (AR) |
CRX |
cone-rod homeobox |
19 |
q13.33 |
3 |
2 |
2 |
2022-07-03 |
RP (AD), RP (AR) |
CYP4V2 |
cytochrome P450 family 4 subfamily V member 2 |
4 |
q35.1-q35.2 |
2 |
0 |
0 |
N/A |
RP (AR) |
DMPK |
DM1 protein kinase |
19 |
q13.32 |
11 |
0 |
0 |
2022-07-06 |
RP (AD) |
E2F1 |
E2F transcription factor 1 |
20 |
q11.22 |
0 |
0 |
0 |
N/A |
RP (AR) |
EYS |
eyes shut homolog |
6 |
q12 |
2 |
4 |
4 |
2022-07-11 |
RP (AR) |
FAM161A |
FAM161 centrosomal protein A |
2 |
p15 |
2 |
0 |
0 |
N/A |
RP (AR) |
FOXC1 |
forkhead box C1 |
6 |
p25.3 |
0 |
0 |
0 |
N/A |
RP (AR) |
FSCN2 |
fascin actin-bundling protein 2, retinal |
17 |
q25.3 |
4 |
0 |
0 |
N/A |
RP (AD) |
GPR143 |
G protein-coupled receptor 143 |
X |
p22.2 |
3 |
0 |
0 |
N/A |
RP (XL) |
GPR179 |
G protein-coupled receptor 179 |
17 |
q12 |
1 |
0 |
0 |
N/A |
RP (AR) |
GRK1 |
G protein-coupled receptor kinase 1 |
13 |
q34 |
1 |
0 |
0 |
2022-07-04 |
- |
GUCA1A |
guanylate cyclase activator 1A |
6 |
p21.1 |
3 |
1 |
1 |
2022-07-03 |
RP (AD) |
GUCA1B |
guanylate cyclase activator 1B |
6 |
p21.1 |
0 |
0 |
0 |
N/A |
RP (AR) |
GUCY2D |
guanylate cyclase 2D, retinal |
17 |
p13.1 |
2 |
0 |
0 |
2022-07-04 |
RP (AR) |
HMCN1 |
hemicentin 1 |
1 |
q25.3-q31.1 |
0 |
0 |
0 |
N/A |
RP (AR) |
IMPDH1 |
inosine monophosphate dehydrogenase 1 |
7 |
q32.1 |
11 |
2 |
2 |
2022-07-11 |
RP (AD), RP (AR) |
IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
3 |
q12.3 |
1 |
4 |
4 |
2022-07-11 |
RP (AD), RP (AR) |
IQCB1 |
IQ motif containing B1 |
3 |
q13.33 |
2 |
0 |
0 |
N/A |
RP (AR) |
JAG1 |
jagged canonical Notch ligand 1 |
20 |
p12.2 |
1 |
0 |
0 |
2022-07-04 |
RP (AR) |
KIF21A |
kinesin family member 21A |
12 |
q12 |
2 |
0 |
0 |
N/A |
RP (AD) |
LCA5 |
lebercilin LCA5 |
6 |
q14.1 |
2 |
0 |
0 |
N/A |
RP (AD), RP (AR) |
LRAT |
lecithin retinol acyltransferase |
4 |
q32.1 |
3 |
0 |
0 |
2022-07-04 |
RP (AR) |
LRIT3 |
leucine rich repeat, Ig-like and transmembrane domains 3 |
4 |
q25 |
1 |
0 |
0 |
2022-07-04 |
RP (AR) |
LRP5 |
LDL receptor related protein 5 |
11 |
q13.2 |
2 |
0 |
0 |
N/A |
RP (AR) |
MAPRE2 |
microtubule associated protein RP/EB family member 2 |
18 |
q12.1-q12.2 |
0 |
0 |
0 |
N/A |
RP (AR) |
MED12 |
mediator complex subunit 12 |
X |
q13.1 |
0 |
0 |
0 |
N/A |
RP (XL) |
MERTK |
MER proto-oncogene, tyrosine kinase |
2 |
q13 |
1 |
0 |
0 |
2022-07-04 |
RP (AR) |
MFN2 |
mitofusin 2 |
1 |
p36.22 |
2 |
0 |
0 |
N/A |
RP (AD) |
MKKS |
MKKS centrosomal shuttling protein |
20 |
p12.2 |
3 |
0 |
0 |
2022-07-04 |
RP (AR) |
MPZ |
myelin protein zero |
1 |
q23.3 |
0 |
0 |
0 |
N/A |
RP (AR) |
MYO7A |
myosin VIIA |
11 |
q13.5 |
3 |
2 |
2 |
2022-07-09 |
RP (AR) |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
1 |
p36.22 |
1 |
0 |
0 |
N/A |
RP (AR) |
NR2E3 |
nuclear receptor subfamily 2 group E member 3 |
15 |
q23 |
2 |
0 |
0 |
2022-07-04 |
RP (AR) |
NUDT19 |
nudix hydrolase 19 |
19 |
q13.11 |
0 |
0 |
0 |
N/A |
RP (AR) |
OAT |
ornithine aminotransferase |
10 |
q26.13 |
10 |
0 |
0 |
2022-07-04 |
RP (AR) |
OFD1 |
OFD1 centriole and centriolar satellite protein |
X |
p22.2 |
1 |
0 |
0 |
N/A |
RP (XL) |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
3 |
q29 |
4 |
1 |
1 |
2022-07-04 |
RP (AR) |
OTX2 |
orthodenticle homeobox 2 |
14 |
q22.3 |
7 |
0 |
0 |
2022-07-04 |
RP (AR) |
PANK2 |
pantothenate kinase 2 |
20 |
p13 |
3 |
1 |
1 |
2022-07-09 |
RP (AR) |
PCARE |
photoreceptor cilium actin regulator |
2 |
p23.2 |
2 |
0 |
0 |
N/A |
RP (AR) |
PCDH15 |
protocadherin related 15 |
10 |
q21.1 |
12 |
1 |
1 |
2022-07-08 |
RP (AR) |
PDE6A |
phosphodiesterase 6A |
5 |
q32 |
1 |
0 |
0 |
2022-07-04 |
RP (AR) |
PDE6B |
phosphodiesterase 6B |
4 |
p16.3 |
1 |
1 |
1 |
2022-07-05 |
- |
PDE6C |
phosphodiesterase 6C |
10 |
q23.33 |
1 |
0 |
0 |
2022-07-04 |
RP (AR) |
PRCD |
photoreceptor disc component |
17 |
q25.1 |
1 |
0 |
0 |
N/A |
RP (AD), RP (AR) |
PROM1 |
prominin 1 |
4 |
p15.32 |
7 |
4 |
4 |
2022-07-11 |
RP (AR) |
PRPF3 |
pre-mRNA processing factor 3 |
1 |
q21.2 |
1 |
1 |
1 |
2022-07-11 |
RP (AD) |
PRPF31 |
pre-mRNA processing factor 31 |
19 |
q13.42 |
1 |
0 |
0 |
N/A |
RP (AR) |
PRPF6 |
pre-mRNA processing factor 6 |
20 |
q13.33 |
1 |
0 |
0 |
N/A |
RP (AD) |
PRPF8 |
pre-mRNA processing factor 8 |
17 |
p13.3 |
1 |
0 |
0 |
2022-07-04 |
RP (AR) |
PRPH2 |
peripherin 2 |
6 |
- |
1 |
1 |
1 |
2022-07-11 |
RP (AR) |
RAX2 |
retina and anterior neural fold homeobox 2 |
19 |
p13.3 |
2 |
0 |
0 |
2022-07-04 |
RP (AR) |
RBP3 |
retinol binding protein 3 |
10 |
q11.22 |
1 |
0 |
0 |
2022-07-04 |
RP (AR) |
RDH12 |
retinol dehydrogenase 12 |
14 |
q24.1 |
1 |
3 |
3 |
2022-07-11 |
RP (AD), RP (AR) |
RDH5 |
retinol dehydrogenase 5 |
12 |
q13.2 |
2 |
0 |
0 |
N/A |
RP (AR) |
RHO |
rhodopsin |
3 |
q22.1 |
1 |
0 |
0 |
2022-07-04 |
RP (AD), RP (AR) |
RHOD |
ras homolog family member D |
11 |
q13.2 |
1 |
0 |
0 |
N/A |
RP (AR) |
RIMS1 |
regulating synaptic membrane exocytosis 1 |
6 |
q13 |
6 |
1 |
1 |
2022-07-09 |
RP (AR) |
RLBP1 |
retinaldehyde binding protein 1 |
15 |
q26.1 |
1 |
2 |
1 |
2022-07-11 |
RP (AR) |
RP1 |
RP1 axonemal microtubule associated |
8 |
q11.23-q12.1 |
1 |
1 |
1 |
2022-07-11 |
RP (AR) |
RP2 |
RP2 activator of ARL3 GTPase |
X |
p11.3 |
2 |
1 |
1 |
2022-07-09 |
RP (XL) |
RPE65 |
retinoid isomerohydrolase RPE65 |
1 |
p31.3 |
1 |
0 |
0 |
N/A |
RP (AR) |
RPGR |
retinitis pigmentosa GTPase regulator |
X |
p11.4 |
2 |
0 |
0 |
N/A |
RP (XL) |
RPGRIP1 |
RPGR interacting protein 1 |
14 |
q11.2 |
1 |
1 |
1 |
2022-07-08 |
RP (AR) |
|
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