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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.
25 entries on 1 page. Showing entries 1 - 25.
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How to query
Symbol
HGNC ID
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
BMP1
HGNC:1067
bone morphogenetic protein 1
8
p21.3
1
116
97
2024-04-19
OI, OI13
CCDC134
HGNC:26185
coiled-coil domain containing 134
22
q13.2
1
8
6
2023-01-11
OI
COL1A1
HGNC:2197
collagen type I alpha 1 chain
17
q21.33
1
4538
1583
2024-05-30
CAFYD, EDS, EDS7A, EDSARTH2, OI, OI1, OI2, OI3, OI4, osteoporosis
COL1A2
HGNC:2198
collagen type I alpha 2 chain
7
q21.3
1
1693
887
2024-05-29
EDS, EDSARTH2, EDSCV, OI, OI2, OI3, OI4, osteoporosis
CREB3L1
HGNC:18856
cAMP responsive element binding protein 3-like 1
11
q11.2
1
43
37
2024-02-26
OI, OI16
CRTAP
HGNC:2379
cartilage associated protein
3
p22.3
1
77
55
2024-04-19
OI, OI7
FAM46A
HGNC:18345
family with sequence similarity 46, member A
6
q14.1
1
20
15
2024-04-19
OI, OI18
FKBP10
HGNC:18169
FKBP prolyl isomerase 10
17
q21.2
1
217
88
2024-04-19
BRKS, BRKS1, OI, OI11
IFITM5
HGNC:16644
interferon induced transmembrane protein 5
11
p15.5
1
97
18
2024-04-19
OI, OI5
KDELR2
HGNC:6305
KDEL endoplasmic reticulum protein retention receptor 2
7
p22.1
2
20
12
2024-04-19
OI, OI21
LRP5
HGNC:6697
low density lipoprotein receptor-related protein 5
11
q13.4
1
584
358
2024-04-19
BMND1, EVR4, EVR;FEVR, OPPG, OPTA, OPTA1, PCLD4, VBCH2, hyperostosis, endosteal (Worth disease), osteoporosis
MBTPS2
HGNC:15455
membrane-bound transcription factor peptidase, site 2
X
p22.12-p22.11
1
161
66
2024-04-19
ID, KFSD, KFSDX, OI, OI19, IFAP syndrome with/without BRESHECK syndrome, Olmsted syndrome, X-linked
MESDC2
HGNC:13520
mesoderm development candidate 2
15
q13
1
10
9
2024-04-19
OI, OI20
P3H1
HGNC:19316
prolyl 3-hydroxylase 1
1
p34.2
1
225
125
2024-02-26
OI, OI8
P4HB
HGNC:8548
prolyl 4-hydroxylase subunit beta
17
q25.3
1
30
25
2024-04-19
CLCRP, CLCRP1
PLOD2
HGNC:9082
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
3
q24
1
75
53
2024-04-19
BRKS, BRKS2
PLS3
HGNC:9091
plastin 3
X
q23
1
93
63
2024-04-19
BMND, BMND18, DIH
PPIB
HGNC:9255
peptidylprolyl isomerase B
15
q22.31
1
26
21
2024-02-26
OI9
SEC24D
HGNC:10706
SEC24 homolog D, COPII coat complex component
4
q26
1
58
49
2024-04-19
CLCRP, CLCRP2
SERPINF1
HGNC:8824
serpin family F member 1
17
p13.3
1
143
93
2024-04-19
OI, OI6
SERPINH1
HGNC:1546
serpin family H member 1
11
q13.5
1
45
34
2023-04-16
OI, OI10, PPROM
SP7
HGNC:17321
Sp7 transcription factor
12
q13.13
1
21
19
2023-01-11
OI, OI12
SPARC
HGNC:11219
secreted protein acidic and cysteine rich
5
q33.1
1
17
15
2024-04-19
OI, OI17
TMEM38B
HGNC:25535
transmembrane protein 38B
9
q31.2
1
49
17
2023-09-27
OI, OI14
WNT1
HGNC:12774
Wnt family member 1
12
q13.12
1
156
73
2024-04-19
BMND, BMND16, OI, OI15
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