Global Variome shared LOVD
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All diseases
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.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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.
14 entries on 1 page. Showing entries 1 - 14.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
05337
BTDD
brachycephaly, trichomegaly, and developmental delay (BTDD, MacInnes syndrome (MCINS))
617412
AD
-
-
RPS23
-
-
06821
COXPD36
Combined oxidative phosphorylation deficiency 36
617950
AR
-
-
MRPS2
-
-
07029
COXPD46
combined oxidative phosphorylation deficiency, type 46
618952
AR
-
-
MRPS23
-
-
07028
COXPD47
combined oxidative phosphorylation deficiency, type 47
618958
AR
-
-
MRPS28
-
-
03048
COXPD5
combined oxidative phosphorylation deficiency, type 5 (COXPD-5)
611719
AR
1
1
MRPS22
-
-
07026
COXPD50
combined oxidative phosphorylation deficiency, type 50
619025
AR
-
-
MRPS25
-
-
05484
DBA
anemia, Diamond-Blackfan (DBA)
-
-
790
706
RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
-
-
03305
DBA10
anemia, Diamond-Blackfan, type 10 (DBA10)
613309
AD
-
-
RPS26
-
-
04129
DBA13
anemia, Diamond-Blackfan, type 13 (DBA-13)
615909
AD
-
-
RPS29
-
-
04648
DBA15
anemia, Diamond Blackfan, type 15 with mandibulofacial dysostosis (DBA-15)
606164
AD
-
-
RPS28
-
-
05486
DBA17
anemia, Diamond-Blackfan, type 17 (DBA-17)
617409
AD
-
-
RPS27
-
autosomal dominant
02966
DBA3
anemia, Diamond-Blackfan, type 3 (DBA3)
610629
AD
-
-
RPS24
-
-
00139
ID
intellectual disability (ID)
-
-
2752
2434
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more
-
-
06581
ODG7
Ovarian dysgenesis 7
618117
AR
-
-
MRPS22
-
-
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