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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.
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
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
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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'
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.
20 entries on 1 page. Showing entries 1 - 20.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00423
-
cancer, endometrial
608089
-
208
175
CDH1, MLH3, MSH3, MSH6, PTEN
-
-
00683
-
cancer, breast, familial
114480
-
8100
783
AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more
-
-
05303
BCDS
syndrome, blepharocheilodontic (BCDS)
-
-
36
36
CDH1, CTNND1
-
-
05638
BCDS-1
syndrome, blepharocheilodontic, type 1 (BCDS-1)
119580
-
0
0
CDH1
-
lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, conical teeth and (rare) imperforate anus
00424
cancer, ovarian
cancer, ovarian
167000
-
217
152
AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA
-
-
01524
cancer, prostate
cancer, prostate
176807
-
201
197
AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3
-
-
04254
CLP
cleft lip, cleft palate (CLP)
-
-
62
30
CDH1
-
-
05458
DFN
deafness, nonsyndromic (DFN)
-
-
42
42
CDH23, CEACAM16, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, TECTA, TMC1, USH1C
-
-
05400
DFNB
deafness, autosomal recessive (DFNB)
-
-
869
868
CDH23, CIB2, MYO15A, MYO7A, OTOF, OTOG, PCDH15, S1PR2, STRC, TMC1, USH1C
-
autosomal recessive
02858
DFNB-23
deafness, autosomal recessive, type 23 (DFNB-23)
609533
-
1
1
PCDH15
-
-
04252
DGC
cancer, gastric, diffuse (DGC)
-
-
0
0
CDH1
-
-
02142
EIEE-9
encephalopathy, epileptic, early infantile, type 9 (EIEE-9)
300088
-
42
8
PCDH19
-
early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
04251
EODGC
cancer, gastric, diffuse, early onset (EODGC)
-
-
0
0
CDH1
-
-
00334
HDGC
cancer, gastric, hereditary diffuse (HDGC)
137215
-
69
69
CDH1, IL1B, IL1RN, KRAS, MUTYH
-
-
00139
ID
intellectual disability (ID)
-
-
1542
1279
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 531 more
-
-
04253
LBC
cancer, breast, lobular (LBC)
-
-
0
0
CDH1
-
-
01110
MRD-3
mental retardation, autosomal dominant, type 3 (MRD-3)
612580
-
0
0
CDH15
-
-
05415
USH
Usher syndrome (USH)
-
-
101
101
ARSG, CDH23, CIB2, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
-
-
02115
USH-1
Usher syndrome, type 1 (USH-1)
-
-
642
643
CDH23, MYO7A, PCDH15, USH1C, USH1G
-
-
02413
USH-1F
Usher syndrome, type 1F (USH-1F)
602083
-
1
1
PCDH15
-
-
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