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 |
4 |
|
Next |
Last » |
Symbol
|
Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
ABCA1 |
ATP binding cassette subfamily A member 1 |
9 |
q31.1 |
1 |
9 |
3 |
2021-09-05 |
T2DM |
ABCA12 |
ATP binding cassette subfamily A member 12 |
2 |
q35 |
4 |
4 |
4 |
2021-09-08 |
ARCI |
ABCA5 |
ATP binding cassette subfamily A member 5 |
17 |
q24.3 |
2 |
- |
- |
N/A |
- |
ABCB1 |
ATP binding cassette subfamily B member 1 |
7 |
q21.12 |
5 |
7 |
7 |
2021-09-08 |
ABCB1 |
ABCC2 |
ATP binding cassette subfamily C member 2 |
10 |
q24.2 |
3 |
- |
- |
N/A |
CPS |
ABCD1 |
ATP binding cassette subfamily D member 1 |
X |
q28 |
2 |
4 |
4 |
2021-08-01 |
ALD |
ABCG8 |
ATP binding cassette subfamily G member 8 |
2 |
p21 |
2 |
1 |
1 |
2021-08-01 |
FH |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
9 |
q34.12 |
1 |
15 |
12 |
2021-09-09 |
CML |
ACE |
angiotensin I converting enzyme |
17 |
q23.3 |
4 |
1 |
1 |
2021-08-01 |
Obesity |
ADAM28 |
ADAM metallopeptidase domain 28 |
8 |
p21.2 |
3 |
2 |
1 |
2021-08-01 |
PID |
ADRA2A |
adrenoceptor alpha 2A |
10 |
q25.2 |
1 |
3 |
1 |
2021-08-01 |
ACE |
ADRB2 |
adrenoceptor beta 2 |
5 |
q32 |
1 |
11 |
2 |
2021-09-02 |
EH |
ADSL |
adenylosuccinate lyase |
22 |
q13.1 |
3 |
1 |
1 |
2021-08-01 |
ADSLD |
AGER |
advanced glycosylation end-product specific receptor |
6 |
p21.32 |
1 |
26 |
6 |
2021-09-08 |
CKD |
AGL |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
1 |
p21.2 |
1 |
12 |
9 |
2021-09-08 |
GSD III |
AGT |
angiotensinogen |
1 |
q42.2 |
1 |
14 |
1 |
2021-09-01 |
EH |
AHNAK2 |
AHNAK nucleoprotein 2 |
14 |
q32.33 |
2 |
2 |
2 |
2021-09-09 |
CMT |
AKT1 |
AKT serine/threonine kinase 1 |
14 |
q32.33 |
4 |
6 |
6 |
2021-08-01 |
COMT |
ALDH5A1 |
aldehyde dehydrogenase 5 family member A1 |
6 |
p22.3 |
3 |
3 |
3 |
2023-12-12 |
SSADHD |
ALOX12B |
arachidonate 12-lipoxygenase, 12R type |
17 |
p13.1 |
1 |
1 |
1 |
2021-08-01 |
ARCI |
AMT |
aminomethyltransferase |
3 |
p21.31 |
1 |
7 |
5 |
2021-09-05 |
GCE |
ANKDD1B |
ankyrin repeat and death domain containing 1B |
5 |
q13.3 |
1 |
- |
- |
N/A |
CRC |
APC |
APC, WNT signaling pathway regulator |
5 |
q22.2 |
2 |
36 |
30 |
2021-09-08 |
APC |
APOB |
apolipoprotein B |
2 |
p24.1 |
1 |
44 |
39 |
2021-08-25 |
FH |
ARSA |
arylsulfatase A |
22 |
q13.33 |
9 |
2 |
2 |
2021-08-01 |
MLD |
ARVCF |
ARVCF delta catenin family member |
22 |
q11.21 |
1 |
- |
- |
N/A |
- |
ASL |
argininosuccinate lyase |
7 |
q11.21 |
1 |
10 |
8 |
2021-09-08 |
ASLD |
ATG16L1 |
autophagy related 16 like 1 |
2 |
q37.1 |
1 |
17 |
3 |
2021-08-30 |
CD |
ATM |
ATM serine/threonine kinase |
11 |
q22.3 |
1 |
- |
- |
N/A |
CRC |
ATRX |
ATRX chromatin remodeler |
X |
q21.1 |
2 |
2 |
1 |
2021-08-01 |
ATRX |
BCKDHA |
branched chain keto acid dehydrogenase E1 subunit alpha |
19 |
q13.2 |
1 |
5 |
4 |
2021-09-12 |
MSUD |
BCKDHB |
branched chain keto acid dehydrogenase E1 subunit beta |
6 |
q14.1 |
1 |
16 |
12 |
2021-09-08 |
MSUD |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
7 |
q34 |
1 |
3 |
1 |
2021-08-30 |
CRC, Brain Tumor |
BRCA1 |
BRCA1, DNA repair associated |
17 |
q21.31 |
1 |
289 |
133 |
2023-12-06 |
BRCA1 |
BRCA2 |
BRCA2, DNA repair associated |
13 |
q13.1 |
1 |
268 |
170 |
2021-09-09 |
BRCA2 |
BTD |
biotinidase |
3 |
p25.1 |
1 |
5 |
5 |
2021-09-08 |
BD |
BTK |
Bruton tyrosine kinase |
X |
q22.1 |
3 |
10 |
10 |
2022-01-25 |
XLA |
CARTPT |
CART prepropeptide |
5 |
q13.2 |
1 |
1 |
1 |
2021-08-01 |
Obesity |
CCDC144NL |
CCDC144A N-terminal pseudogene |
17 |
p11.2 |
1 |
- |
- |
N/A |
CRC |
CCL2 |
C-C motif chemokine ligand 2 |
17 |
q12 |
1 |
- |
- |
N/A |
Breast cancer |
CD19 |
CD19 molecule |
16 |
p11.2 |
3 |
4 |
3 |
2022-01-25 |
CVID3, PID |
CD27 |
CD27 molecule |
12 |
p13.31 |
1 |
2 |
1 |
2021-08-01 |
PID |
CD86 |
CD86 molecule |
3 |
q13.33 |
5 |
2 |
1 |
2021-08-01 |
PID |
CDC73 |
cell division cycle 73 |
1 |
q31.2 |
2 |
- |
- |
N/A |
HPT-JT |
CDK11B |
cyclin dependent kinase 11B |
1 |
p36.33 |
1 |
- |
- |
N/A |
CRC |
CENPM |
centromere protein M |
22 |
q13.2 |
1 |
- |
- |
N/A |
CRC |
CFTR |
cystic fibrosis transmembrane conductance regulator |
7 |
q31.2 |
1 |
1 |
1 |
2023-02-26 |
CFTR |
CHAT |
choline O-acetyltransferase |
10 |
q11.23 |
7 |
4 |
2 |
2021-08-01 |
CMS |
CHD7 |
chromodomain helicase DNA binding protein 7 |
8 |
q12.2 |
2 |
1 |
1 |
2021-07-25 |
CHARGE |
CHEK2 |
checkpoint kinase 2 |
22 |
q12.1 |
1 |
7 |
4 |
2021-08-23 |
Breast cancer |
CHRD |
chordin |
3 |
q27.1 |
4 |
- |
- |
N/A |
- |
CLDN5 |
claudin 5 |
22 |
q11.21 |
1 |
- |
- |
N/A |
CRC |
CNDP1 |
carnosine dipeptidase 1 |
18 |
q22.3 |
1 |
- |
- |
N/A |
- |
COL1A1 |
collagen type I alpha 1 chain |
17 |
q21.33 |
1 |
12 |
12 |
2021-09-12 |
OI |
COL1A2 |
collagen type I alpha 2 chain |
7 |
q21.3 |
1 |
4 |
4 |
2021-09-13 |
OI |
COL22A1 |
collagen type XXII alpha 1 chain |
8 |
q24.23-q24.3 |
1 |
- |
- |
N/A |
- |
COL7A1 |
collagen type VII alpha 1 chain |
3 |
p21.31 |
1 |
1 |
1 |
2021-09-08 |
DEBP |
COMT |
catechol-O-methyltransferase |
22 |
q11.21 |
1 |
5 |
3 |
2021-09-12 |
- |
CPS1 |
carbamoyl-phosphate synthase 1 |
2 |
q34 |
2 |
10 |
8 |
2021-09-08 |
CPS1D |
CR1 |
complement C3b/C4b receptor 1 (Knops blood group) |
1 |
q32.2 |
1 |
1 |
1 |
2021-08-01 |
- |
CR2 |
complement C3d receptor 2 |
1 |
q32.2 |
2 |
4 |
2 |
2021-08-01 |
PID |
CRNN |
cornulin |
1 |
q21.3 |
1 |
18 |
6 |
2021-09-08 |
OSCC |
CSMD3 |
CUB and Sushi multiple domains 3 |
8 |
q23.3 |
4 |
- |
- |
N/A |
- |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
2 |
q33.2 |
1 |
16 |
9 |
2021-09-02 |
LF, PID, SLE |
CXCL16 |
C-X-C motif chemokine ligand 16 |
17 |
p13.2 |
1 |
6 |
1 |
2021-08-30 |
CD |
CYBB |
cytochrome b-245 beta chain |
X |
p21.1-p11.4 |
1 |
2 |
2 |
2022-01-25 |
X-CGD |
CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
8 |
q24.3 |
1 |
1 |
1 |
2021-08-01 |
Coronary Heart Disease |
CYP21A2 |
cytochrome P450 family 21 subfamily A member 2 |
6 |
p21.33 |
4 |
5 |
5 |
2021-08-01 |
CAH |
CYP2A6 |
cytochrome P450 family 2 subfamily A member 6 |
19 |
q13.2 |
1 |
- |
- |
N/A |
Brain Tumor |
CYP2B6 |
cytochrome P450 family 2 subfamily B member 6 |
19 |
q13.2 |
1 |
- |
- |
N/A |
- |
CYP2C9 |
cytochrome P450 family 2 subfamily C member 9 |
10 |
q23.33 |
1 |
- |
- |
N/A |
- |
CYP2D6 |
cytochrome P450 family 2 subfamily D member 6 |
22 |
q13.2 |
1 |
17 |
7 |
2021-09-12 |
Breast cancer, pharmacogenetics |
CYP4V2 |
cytochrome P450 family 4 subfamily V member 2 |
4 |
q35.1-q35.2 |
1 |
- |
- |
N/A |
- |
DBT |
dihydrolipoamide branched chain transacylase E2 |
1 |
p21.2 |
1 |
6 |
4 |
2021-08-23 |
MSUD |
DISC1 |
DISC1 scaffold protein |
1 |
q42.2 |
1 |
36 |
9 |
2021-09-08 |
Schizophrenia disease |
DKC1 |
dyskerin pseudouridine synthase 1 |
X |
q28 |
3 |
2 |
1 |
2021-08-01 |
DKC |
DLG5 |
discs large MAGUK scaffold protein 5 |
10 |
q22.3 |
15 |
1 |
1 |
2021-09-09 |
CD |
DMD |
dystrophin |
X |
p21.2-p21.1 |
17 |
10 |
10 |
2021-09-13 |
- |
DMP1 |
dentin matrix acidic phosphoprotein 1 |
4 |
q22.1 |
1 |
3 |
3 |
2021-08-29 |
HR |
DPP4 |
dipeptidyl peptidase 4 |
2 |
q24.2 |
1 |
24 |
8 |
2021-09-01 |
T2DM |
DPYD |
dihydropyrimidine dehydrogenase |
1 |
p21.3 |
2 |
2 |
1 |
2021-08-01 |
DPD |
DRD1 |
dopamine receptor D1 |
5 |
q35.2 |
1 |
2 |
2 |
2021-03-29 |
PD |
DRD2 |
dopamine receptor D2 |
11 |
q23.2 |
3 |
3 |
3 |
2021-03-29 |
- |
DRD3 |
dopamine receptor D3 |
3 |
q13.31 |
5 |
2 |
2 |
2021-03-29 |
- |
DRD4 |
dopamine receptor D4 |
11 |
p15.5 |
1 |
1 |
1 |
2021-03-29 |
- |
DRD5 |
dopamine receptor D5 |
4 |
p16.1 |
1 |
1 |
1 |
2021-03-29 |
- |
DUOX2 |
dual oxidase 2 |
15 |
q21.1 |
2 |
4 |
3 |
2021-08-01 |
PDS |
DUSP6 |
dual specificity phosphatase 6 |
12 |
q21.33 |
2 |
1 |
1 |
2021-08-01 |
Class III Malocclusion |
DYSF |
dysferlin |
2 |
p13.2 |
14 |
6 |
6 |
2021-08-01 |
LGMD2B |
EGFR |
epidermal growth factor receptor |
7 |
p11.2 |
1 |
2 |
2 |
2021-09-08 |
HGSOC |
EPM2A |
EPM2A glucan phosphatase, laforin |
6 |
q24.3 |
12 |
1 |
1 |
2021-08-01 |
LD |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
19 |
q13.32 |
6 |
- |
- |
N/A |
Breast cancer |
EVPL |
envoplakin |
17 |
q25.1 |
2 |
- |
- |
N/A |
- |
F2 |
coagulation factor II, thrombin |
11 |
p11.2 |
1 |
1 |
1 |
2021-08-01 |
PEE1 |
F8 |
coagulation factor VIII |
X |
q28 |
1 |
45 |
43 |
2021-09-13 |
F8 |
F9 |
coagulation factor IX |
X |
q27.1 |
1 |
28 |
20 |
2021-09-13 |
F9 |
FANCA |
FA complementation group A |
16 |
q24.3 |
4 |
12 |
6 |
2021-08-01 |
PID |
FAS |
Fas cell surface death receptor |
10 |
q23.31 |
18 |
1 |
1 |
2021-08-01 |
CC |
FBP1 |
fructose-bisphosphatase 1 |
9 |
q22.32 |
2 |
8 |
7 |
2021-09-08 |
FBP1D |
FGF23 |
fibroblast growth factor 23 |
12 |
p13.32 |
1 |
1 |
1 |
2021-08-29 |
HR |
|
How to query |
« First |
Prev |
|
1 |
2 |
3 |
4 |
|
Next |
Last » |