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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
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
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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.
28 entries on 1 page. Showing entries 1 - 28.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00593
-
RIDDLE syndrome
611943
AR
4
5
RNF168
-
-
01005
-
melanoma, desmoplastic neurotrophic
-
-
0
0
NF1
-
-
01364
-
hepatic adenoma, somatic
142330
-
0
0
HNF1A
-
-
06586
EIEE73
Epileptic encephalopathy, early infantile, 73
618379
AD
0
0
RNF13
-
-
00723
FSNF
neurofibromatosis, familial spinal
162210
AD
0
0
NF1
-
-
00139
ID
intellectual disability (ID)
-
-
2195
1894
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more
-
-
00150
IDDM
diabetes mellitus, insulin-dependent (IDDM)
222100
AR
8
8
FOXP3, HNF1A, IL6, INS, ITPR3, OAS1, PTPN22
-
-
03143
IDDM20
diabetes mellitus, insulin-dependent, type 20 (IDDM-20)
612520
-
0
0
HNF1A
-
-
00704
JMML;CMML
leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML))
607785
AD;SMu
120
120
ARHGAP26, EZH2, MLLT11, NF1, PTPN11
-
-
05452
MC3DN
mitochondrial complex III deficiency, nuclear (MC3DN)]
-
-
4
4
BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ
-
-
04094
MC3DN7
mitochondrial complex III deficiency, nuclear type 7 (MC3DN-7)
615824
AR
1
1
MNF1
-
-
00722
MMFD
macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD)
614192
-
9
9
RNF135
-
-
02303
MODY3
diabetes of the young, maturity-onset, type 3 (MODY-3)
600496
AD
3
3
HNF1A
-
-
06485
NEDISHM
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
618425
AR
0
0
ZNF142
-
-
00515
NF
neurofibromatosis (NF)
-
-
547
347
NF1, NF2
-
-
00439
NF1
neurofibromatosis, type 1 (NF1)
162200
AD
3895
3709
NF1
-
-
00724
NFNS
neurofibromatosis-Noonan syndrome (NFNS)
601321
AD
1
1
NF1
-
-
00960
NGPS
progeria syndrome, Nestor-Guillermo (NGPS)
614008
AR
2
2
BANF1
-
-
00151
NIDDM
diabetes mellitus, type II (NIDDM)
125853
AD
8
7
ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more
-
-
05296
OI
osteogenesis imperfecta (OI)
-
AD
4234
1117
BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, MBTPS2, MESDC2, P3H1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1
-
-
03504
OI6
osteogenesis imperfecta, type VI (OI6)
613982
AR
2
2
SERPINF1
-
-
03859
PAPA6
polydactyly, postaxial, type A6 (PAPA-6)
615226
AR
1
1
ZNF141
-
autosomal recessive
01348
RCAD;MODY5
renal cysts and diabetes syndrome (RCAD, maturity-onset diabetes of the young, type 5 (MODY-5))
137920
AD
219
219
HNF1B
-
-
01382
RCC
carcinoma, renal cell, nonpapillary (RCC)
144700
-
2
1
DIRC2, FLCN, HNF1A, HNF1B, OGG1, RNF139, VHL
-
-
02808
SNAX1
ataxia, sensory, type 1, autosomal dominant (SNAX-1)
608984
AD
0
0
RNF170
-
-
04647
TNORS
Tenorio syndrome (TNORS)
616260
AD
0
0
RNF125
-
-
04326
TTD5
trichothiodystrophy, type 5, nonphotosensitive (TTD-5)
300953
XLD
3
1
RNF113A
-
X-linked dominant
00725
WTSN
Watson syndrome
193520
AD
0
0
NF1
-
-
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