Labor Staber Humangenetik
LOVD v.3.0 Build 29 [
Current LOVD status
]
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All genes
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.
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.
105 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
How to query
« First
Prev
1
2
Next
Last »
Symbol
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
ABCC8
ATP binding cassette subfamily C member 8
11
p15.1
1
3
3
2023-06-16
HHF1, LIH, PNDM3, T2D, TNDM2
ABCC9
ATP binding cassette subfamily C member 9
12
p12.1
1
1
1
2023-10-02
CMD1O
ADA2
adenosine deaminase 2
22
q11.1
1
4
4
2023-06-28
SNDNS, VAIHS
AEBP1
AE binding protein 1
7
p13
1
1
1
2024-01-22
EDSCL2
AIP
aryl hydrocarbon receptor interacting protein
11
q13.2
1
7
7
2023-06-27
PITA1
APC
APC regulator of WNT signaling pathway
5
q22.2
1
3
3
2023-09-18
DESMD, FAP1, GAPPS
APOB
apolipoprotein B
2
p24.1
1
5
5
2023-06-27
FHBL1, FHCL2
APPL1
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
3
p14.3
1
4
4
2023-10-26
MODY14
ATM
ATM serine/threonine kinase
11
q22.3
1
15
13
2023-06-27
AT, BREAST CANCER
ATP7B
ATPase copper transporting beta
13
q14.3
1
17
17
2023-09-19
WD
ATXN3
ataxin 3
14
q21
1
-
-
N/A
MJD
BAP1
BRCA1 associated protein 1
3
p21.1
1
1
1
2020-03-03
KURIS, TPDS, UVM2
BARD1
BRCA1 associated RING domain 1
2
q35
1
1
1
2023-06-27
BREAST CANCER
BLK
BLK proto-oncogene, Src family tyrosine kinase
8
p23.1
1
1
1
2020-03-03
MODY 11
BRAF
B-Raf proto-oncogene, serine/threonine kinase
7
q34
1
1
1
2023-06-27
CFC1, LPRD3, NS7
BRCA1
BRCA1, DNA repair associated
17
q21.31
1
26
24
2024-01-19
BROVCA1, FANCS, PNCA4
BRCA2
BRCA2, DNA repair associated
13
q13.1
1
40
40
2023-10-25
BREAST CANCER, BROVCA2, FANCD1, GLM3, MDB, PCNA2, PROSTATE CANCER, WT1
BRIP1
BRCA1 interacting protein C-terminal helicase 1
17
q23.2
1
10
10
2023-06-27
BREAST CANCER, FANCJ
CDH1
cadherin 1
16
q22.1
1
10
10
2023-06-28
BCDS1, BREAST CANCER, DGLBC, PROSTATE CANCER
CDK4
cyclin dependent kinase 4
12
q14.1
1
1
1
2023-06-28
CMM3
CDKN2A
cyclin dependent kinase inhibitor 2A
9
p21.3
2
1
1
2023-06-28
CMM2, MELANOMA-ASTROCYTOMA, MELANOMA-PANCREATIC
CEL
carboxyl ester lipase
9
q34.13
1
1
1
2020-10-08
MODY8
CFTR
cystic fibrosis transmembrane conductance regulator
7
q31.2
1
7
7
2024-01-11
BESC1, CBAVD, CF, PCTT
CHEK2
checkpoint kinase 2
22
q12.1
1
16
14
2023-12-14
BREAST CANCER, CRC, LFS2, PROSTATE CANCER
COL3A1
collagen type III alpha 1 chain
2
q32.2
1
1
1
2023-06-29
EDSVASC
COL5A2
collagen type V alpha 2 chain
2
q32.2
1
1
1
2022-06-29
EDSCL2
CPA1
carboxypeptidase A1
7
q32.2
1
2
2
2023-06-29
-
CYP21A2
cytochrome P450 family 21 subfamily A member 2
6
p21.3
1
-
-
N/A
CAH1
DES
desmin
2
q35
1
1
1
2023-06-29
CMD1I
DIS3L2
DIS3 like 3'-5' exoribonuclease 2
2
q37.1
1
1
1
2023-06-29
PRLMNS
DSG2
desmoglein 2
18
q12.1
1
2
2
2023-06-29
ARVD11
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
2
q14.3
1
2
2
2017-05-15
TTD2, XPB
EYA4
EYA transcriptional coactivator and phosphatase 4
6
q23.2
1
1
1
2023-06-29
CMD1J
FANCA
FA complementation group A
16
q24.3
1
1
1
2020-03-03
FANCA
FANCM
FA complementation group M
14
q21.2
1
1
1
2018-12-07
POF15
FBN1
fibrillin 1
15
q21.1
1
7
7
2023-10-02
ACMICD, ECTOL1, GPHYSD2, MASSS, MFLS, MFS1, SSKS, WMS2
FGFR3
fibroblast growth factor receptor 3
4
p16.3
1
-
-
N/A
ACH, HCH
FH
fumarate hydratase
1
q43
1
1
1
2024-01-05
HLRCC
GCK
glucokinase
7
p15.3-p15.1
1
10
10
2023-06-30
HHF3, MODY2, PNDM1, T2D
GJB2
gap junction protein beta 2
13
q11-q12
1
-
-
N/A
DFNB1A
GLA
galactosidase alpha
X
q21.3-q22
1
-
-
N/A
FD
HBA1
hemoglobin subunit alpha 1
16
p13.3
1
-
-
2016-07-11
a-THAL
HBA2
hemoglobin subunit alpha 2
16
p13.3
1
2
2
2024-03-28
a-THAL
HBB
hemoglobin subunit beta
11
p15.5
1
-
-
N/A
b-THAL
HNF1A
HNF1 homeobox A
12
q24.31
1
6
6
2023-06-16
MODY3, RCC, T1D, T1D20, T2D
HNF1B
HNF1 homeobox B
17
q12
1
1
1
2019-05-21
MODY5, RCC
HNF4A
hepatocyte nuclear factor 4 alpha
20
q13.12
1
2
2
2019-05-21
FRTS4, MODY1, T2D
IL36RN
interleukin 36 receptor antagonist
2
q14.1
1
2
2
2023-06-29
PSORS14
INS
insulin
11
p15.5
1
1
1
2023-06-29
MODY10, WTSN, XPB, YAOS
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
21
q22.12
1
1
1
2023-06-29
LQT5
KCNH2
potassium voltage-gated channel subfamily H member 2
7
q36.1
1
2
2
2023-06-30
-
KCNJ5
potassium inwardly rectifying channel subfamily J member 5
11
q24.3
1
1
1
2023-06-30
LQT13
KCNQ1
potassium voltage-gated channel subfamily Q member 1
11
p15.5-p15.4
1
1
1
2023-06-27
JLNS1, LQT1, SHORT QT SYNDROME
KIF1B
kinesin family member 1B
1
p36.22
1
1
1
2023-07-17
CMT2A1, NBLST1
KIT
KIT proto-oncogene, receptor tyrosine kinase
4
q12
1
1
1
2023-07-17
GIST, MASTC, PBT
KLF11
KLF transcription factor 11
2
p25.1
1
4
4
2023-10-02
MODY7
KRAS
KRAS proto-oncogene, GTPase
12
p12.1
2
2
1
2020-10-08
NS3
LDLR
low density lipoprotein receptor
19
p13.2
1
3
3
2024-01-04
FHCL1
LPIN2
lipin 2
18
p11.31
1
4
4
2023-07-17
MJDS
MECP2
methyl-CpG binding protein 2
X
q28
1
-
-
N/A
RTT
MEFV
Mediterranean fever
16
p13.3
1
-
-
N/A
AFND, FMF, FMFAD
MET
MET proto-oncogene, receptor tyrosine kinase
7
q31
1
7
7
2023-10-02
HPRCC
MLH1
mutL homolog 1
3
p22.3
1
24
24
2023-12-01
LYNCH2, MMRCS1, MRTES
MSH2
mutS homolog 2
2
p21
1
8
7
2023-07-17
LYNCH1, MMRCS2, MRTES
MSH6
mutS homolog 6
2
p16
1
12
11
2023-07-17
ENDOMETRIAL CANCER, LYNCH5, MMRCS3
MUTYH
mutY DNA glycosylase
1
p34.1
1
3
3
2023-07-17
FAP2
MYBPC3
myosin binding protein C3
11
p11.2
1
1
1
2023-06-27
CMH4, LVNC10
NBN
nibrin
8
q21.3
1
5
5
2023-07-17
NBS
NEUROD1
neuronal differentiation 1
2
q31.3
1
2
2
2023-10-02
MODY6, T2D
NF1
neurofibromin 1
17
q11.2
2
24
22
2023-11-24
FSNF, JMML, NF1, NFNS, WTSN
NLRC4
NLR family CARD domain containing 4
2
p22.3
1
1
1
2023-07-17
AIFEC, FCAS4
NLRP12
NLR family pyrin domain containing 12
19
q13.42
1
10
10
2023-10-02
FCAS2
NLRP3
NLR family pyrin domain containing 3
1
q44
1
1
1
2023-06-16
CINCA, DFNA34, FCAS1, KEFH, MWS, YAOS
NOD2
nucleotide binding oligomerization domain containing 2
16
q12.1
1
7
7
2023-10-02
BLAUS, IBD1, YAOS
NTHL1
nth like DNA glycosylase 1
16
p13.3
1
1
1
2023-07-17
-
PALB2
partner and localizer of BRCA2
16
p12.2
1
7
7
2023-07-18
BREAST CANCER, FANCN, PNCA3
PAX4
paired box 4
7
q32.1
1
4
4
2023-07-18
KPD, MODY 9, T2D
PDGFRA
platelet derived growth factor receptor alpha
4
q12
1
3
3
2023-10-02
GISTPS
PDX1
pancreatic and duodenal homeobox 1
13
q12.2
1
4
4
2023-10-02
MODY4
PMS2
PMS1 homolog 2, mismatch repair system component
7
p22.1
1
7
7
2023-10-02
LYNCH4, MMRCS4
POLD1
DNA polymerase delta 1, catalytic subunit
19
q13.3
1
1
1
2023-06-27
CRCS10, MDPL
PROC
protein C, inactivator of coagulation factors Va and VIIIa
2
q13-q14
1
2
2
2023-06-27
THPH3, THPH4
PROS1
protein S (alpha)
3
q11.1
1
5
5
2023-06-27
THPH5, THPH6
PRSS1
protease, serine 1
7
q34
1
-
-
2016-07-11
PCTT
PSMB8
proteasome 20S subunit beta 8
6
p21.32
1
3
3
2023-10-02
-
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
15
q24.3
1
2
2
2023-06-28
PAPAS
PTCH1
patched 1
9
q22.32
1
4
4
2023-07-18
BCNS1, HPE7
PTEN
phosphatase and tensin homolog
10
q23.31
1
6
6
2023-09-14
CWS1
PTPN11
protein tyrosine phosphatase, non-receptor type 11
12
q24.1
1
8
7
2023-07-18
LPRD1, METCDS, NS1
RAD51C
RAD51 paralog C
17
q25.1
1
5
5
2023-07-18
BROVCA3, FANCO
RAD51D
RAD51 paralog D
17
q11
1
1
1
2023-07-18
BROVCA4
RBM20
RNA binding motif protein 20
10
q25.2
1
2
1
2024-01-15
CMD1DD
RIT1
Ras like without CAAX 1
1
q22
1
2
2
2023-07-18
NS8
SBDS
SBDS ribosome maturation factor
7
q11.21
1
2
2
2023-07-18
SDS1
SDHB
succinate dehydrogenase complex iron sulfur subunit B
1
p36.13
1
2
2
2023-10-02
GIST, MC2DN4, PCZ, PGL4, PGSS
SHOX
short stature homeobox
X
p22.33 and Yp11.32
1
-
-
N/A
ISS, LMD, LWD
SMAD3
SMAD family member 3
15
q22.33
1
1
1
2023-06-27
LDS3
SMAD4
SMAD family member 4
18
q21.2
1
3
3
2023-10-02
JPHT, JPS, MYHRS
SPINK1
serine peptidase inhibitor, Kazal type 1
5
q32
1
1
1
2023-06-27
PCTT, TCP
STK11
serine/threonine kinase 11
19
p13.3
1
1
1
2019-02-21
PJS
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
How to query
« First
Prev
1
2
Next
Last »
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center