Labor Staber Humangenetik
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How to query this table
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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'
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60 entries on 1 page. Showing entries 1 - 60.
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How to query
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
2
2
2020-03-03
NIDDM
AIP
aryl hydrocarbon receptor interacting protein
11
q13.2
1
2
2
2020-03-03
PA, ACTH
ATM
ATM serine/threonine kinase
11
q22.3
1
2
2
2023-05-04
BREAST CANCER
ATP7B
ATPase copper transporting beta
13
q14.3
1
-
-
N/A
WD
ATXN3
ataxin 3
14
q21
1
-
-
N/A
MJD
BAP1
BRCA1 associated protein 1
3
p21.1
1
1
1
2020-03-03
TPDS
BLK
BLK proto-oncogene, Src family tyrosine kinase
8
p23.1
1
1
1
2020-03-03
MODY 11
BRCA1
BRCA1, DNA repair associated
17
q21.31
1
13
12
2020-10-08
BROVCA1
BRCA2
BRCA2, DNA repair associated
13
q13.1
1
17
17
2021-12-06
BREAST CANCER, BROVCA2
BRIP1
BRCA1 interacting protein C-terminal helicase 1
17
q23.2
1
1
1
2018-12-07
BREAST CANCER
CDH1
cadherin 1
16
q22.1
1
2
2
2020-03-03
BREAST CANCER, GC
CEL
carboxyl ester lipase
9
q34.13
1
1
1
2020-10-08
MODY8
CFTR
cystic fibrosis transmembrane conductance regulator
7
q31.2
1
3
3
2020-10-08
CF, PCTT
CHEK2
checkpoint kinase 2
22
q12.1
1
6
6
2020-03-03
BREAST CANCER
COL5A2
collagen type V alpha 2 chain
2
q32.2
1
1
1
2022-06-29
EDSCL2
CPA1
carboxypeptidase A1
7
q32.2
1
1
1
2018-01-25
-
CYP21A2
cytochrome P450 family 21 subfamily A member 2
6
p21.3
1
-
-
N/A
CAH1
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
2
q14.3
1
2
2
2017-05-15
-
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
BREAST CANCER
FBN1
fibrillin 1
15
q21.1
1
2
2
2022-02-07
MFS1
FGFR3
fibroblast growth factor receptor 3
4
p16.3
1
-
-
N/A
ACH, HCH
GCK
glucokinase
7
p15.3-p15.1
1
3
3
2020-10-08
MODY2
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
1
1
2017-05-24
a-THAL
HBB
hemoglobin subunit beta
11
p15.5
1
-
-
N/A
b-THAL
HNF1A
HNF1 homeobox A
12
q24.31
1
5
5
2021-11-30
MODY3
HNF1B
HNF1 homeobox B
17
q12
1
1
1
2019-05-21
MODY5
HNF4A
hepatocyte nuclear factor 4 alpha
20
q13.12
1
2
2
2019-05-21
MODY1
KRAS
KRAS proto-oncogene, GTPase
12
p12.1
2
2
1
2020-10-08
NS3
LPIN2
lipin 2
18
p11.31
1
1
1
2021-02-05
MJDS
MECP2
methyl-CpG binding protein 2
X
q28
1
-
-
N/A
RTT
MEFV
Mediterranean fever
16
p13.3
1
-
-
N/A
FMF
MET
MET proto-oncogene, receptor tyrosine kinase
7
q31
1
1
1
2018-12-07
HPRCC
MLH1
mutL homolog 1
3
p22.3
1
4
4
2021-06-15
HNPCC2
MSH2
mutS homolog 2
2
p21
1
4
4
2022-02-14
HNPCC1
MSH6
mutS homolog 6
2
p16
1
4
4
2023-05-22
HNPCC5
MUTYH
mutY DNA glycosylase
1
p34.1
1
2
2
2020-03-03
FAP2
NEUROD1
neuronal differentiation 1
2
q31.3
1
1
1
2019-05-21
MODY6
NF1
neurofibromin 1
17
q11.2
1
7
6
2020-03-03
NF1
NOD2
nucleotide binding oligomerization domain containing 2
16
q12.1
1
1
1
2020-10-08
BLAUS, YAOS
PALB2
partner and localizer of BRCA2
16
p12.2
1
3
3
2020-03-03
BREAST CANCER, FANCN, PNCA3
PAX4
paired box 4
7
q32.1
1
-
-
N/A
MODY 9
PMS2
PMS1 homolog 2, mismatch repair system component
7
p22.1
1
3
3
2020-10-08
HNPCC4
PROC
protein C, inactivator of coagulation factors Va and VIIIa
2
q13-q14
1
1
1
2021-12-06
THPH3
PROS1
protein S (alpha)
3
q11.1
1
2
2
2022-09-06
THPH5
PRSS1
protease, serine 1
7
q34
1
-
-
2016-07-11
PCTT
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
15
q24.3
1
1
1
2023-05-04
-
PTCH1
patched 1
9
q22.32
1
1
1
2018-12-07
-
PTPN11
protein tyrosine phosphatase, non-receptor type 11
12
q24.1
1
-
-
N/A
NS1
RAD51C
RAD51 paralog C
17
q25.1
1
3
3
2018-12-07
BROVCA3
RAD51D
RAD51 paralog D
17
q11
1
1
1
2017-05-15
BROVCA4
SDHB
succinate dehydrogenase complex iron sulfur subunit B
1
p36.13
1
1
1
2017-05-15
CWS2, GIST, PCZ, PGL4, PGSS
SHOX
short stature homeobox
X
p22.33 and Yp11.32
1
-
-
N/A
ISS
SPINK1
serine peptidase inhibitor, Kazal type 1
5
q32
1
-
-
2016-07-11
PCTT
STK11
serine/threonine kinase 11
19
p13.3
1
1
1
2019-02-21
PJS
TP53
tumor protein p53
17
p13.1
1
4
3
2018-12-07
BREAST CANCER, LFS1
TTN
titin
2
q31.2
2
3
3
2023-05-04
-
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