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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
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Arg
all entries containing 'Arg'
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Text
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Text
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!=""
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Text
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combination
Text
*|Ter !fs
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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
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<=
Date
<=2020-06
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Date
>2020-06
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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
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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
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Example
Matches
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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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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95 entries on 1 page. Showing entries 1 - 95.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00566
-
Wolcott-Rallison syndrome
226980
AR
1
1
EIF2AK3
-
-
02020
-
alpha-2-plasmin inhibitor deficiency
262850
AR
-
-
SERPINF2
-
-
02354
-
stroke, ischemic, susceptibility to
601367
Mu
2
2
ALOX5AP, F2, F5, NOS3, PRKCH
-
-
02750
ADCAD1
artery, coronary, disease, autosomal dominant, type 1 (ADCAD-1)
608320
AD
-
-
MEF2A
-
-
01599
ADHR
rickets, hypophosphatemic, autosomal dominant (ADHR)
193100
AD
1
1
FGF23
-
-
03740
AI2A4
amelogenesis imperfecta, hypomaturation type, IIA4 (AI2A4)
614832
AR
-
-
C4orf26
-
-
04435
ARCI5
Ichthyosis, congenital, autosomal recessive, type 5 (ARCI-5)
604777
AR
-
-
CYP4F22
-
-
02733
ARPHM;PVNH2
heterotopia, periventricular, autosomal recessive (ARPHM, periventricular heterotopia type 2 (PVNH-2))
608097
AR
1
1
ARFGEF2
-
autosomal recessive
01221
cancer, liver
cancer, hepatocellular (HCC)
114550
-
4
4
APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53
liver
-
03931
CDCBM3
dysplasia ,cortical, complex, with other brain malformations, type 3 (CDCBM-3)
615411
AD
1
-
KIF2A
-
-
01332
CFEOM1;CFEOM3B
fibrosis, extraocular muscles, congenital, type 1
135700
AD
-
-
KIF21A
-
-
05349
CGD
granulomatous disease, chronic
-
-
1322
1305
C17orf62, CYBA, CYBB, NCF1, NCF2, NCF4
-
-
01832
CGD2
granulomatous disease, chronic, due to deficiency of NCF-2, type 2
233710
AR
15
-
NCF2
-
-
05339
CHTD
disease, heart, congenital (CHTD)
-
-
35
33
NR2F2, SMAD2, TAB2
-
-
04083
CHTD4
heart defects, congenital, multiple types, type 4 (CHTD-4)
615779
AD
2
2
NR2F2
-
-
03142
CILD10
dyskinesia, ciliary, primary, 10 (CILD-10)
612518
-
-
-
DNAAF2
-
-
02518
CMT4B2
Charcot-Marie-Tooth disease, type 4B2 (CMT-4B2)
604563
AR
3
3
SBF2
-
-
03652
CMTDIE
Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE)
614455
AD
-
-
INF2
-
-
05210
COXPD29
combined oxidative phosphorylation deficiency, type 29
616811
AR
-
-
TWF2
-
-
00156
CSS
Coffin-Siris syndrome (CSS)
-
-
285
255
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11
-
-
05794
CSS7
Coffin-Siris syndrome, type 7 (CSS7)
618027
AD
-
-
DPF2
-
-
06025
CVID14
?Immunodeficiency, common variable, 14
617765
AD
-
-
IRF2BP2
-
-
06544
DDVIBA
Developmental delay with variable intellectual impairment and behavioral abnormalities
618430
AD
3
3
TCF20
-
-
06906
DEE
encephalopathy, developmental and epileptic
-
-
269
261
ATP1A3, CELF2, DALRD3, DNM1, GAD1, GLUL, GNAO1, KCNA2, KCNH5, NEUROD2, NTRK2, TMEM63B
-
-
06905
DEE97
encephalopathy, developmental and epileptic, type 97
619561
AD
-
-
CELF2
-
-
03511
DKCA3
dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3)
613990
AD
18
18
TINF2
-
-
05408
FAME
epilepsy, myoclonic, familial adult (FAME)
-
-
69
68
CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2
-
autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
05590
FAME7;FMCTE7
epilepsy, myoclonic, familial adult, type 7 (FAME7, FMCTE7)
618075
AD
-
-
RAPGEF2
-
-
03289
FSGS5
glomerulosclerosis, segmental, focal, type 5 (FSGS-5)
613237
-
1
1
INF2
-
-
01698
GDHS
ataxia, cerebellar, and hypogonadotropic hypogonadism
212840
AR
2
2
RNF216
-
-
04512
GRDF
growth restriction, severe, with distinctive facies (GRDF)
616489
AD
-
-
IGF2
-
-
04472
HFTC
calcinosis, tumoral, hyperphosphatemic, familial (HFTC)
211900
AR
-
-
FGF23, GALNT3, KL
-
-
06183
HFTC2
Tumoral calcinosis, hyperphosphatemic, familial, 2
617993
-
-
-
FGF23
-
-
01575
HHT
telangiectasia hemorrhagic, hereditary (HHT)
-
-
72
71
ACVRL1, ENG, GDF2
-
-
03975
HHT5
telangiectasia, hemorrhagic, hereditary, type 5 (HHT5)
615506
AD
-
-
GDF2
-
autosomal dominant
06886
HR
hypophosphataemic rickets
-
-
701
681
CLCN5, FGF23, PHEX
-
-
03389
HYPOPROTHROMBINEMIA
deficiency, prothrombin (hypoprothrombinemia, dysprothrombinaemia)
613679
AR
51
51
F2
-
-
00139
ID
intellectual disability (ID)
-
-
2706
2388
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
06152
IDDBCS
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
618725
AD
2
2
PHF21A
-
-
06775
LEMSPAD
?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
618878
-
-
-
EIF2AK1
-
-
06497
LEUDEN
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
618877
-
1
1
EIF2AK2
-
-
00038
LS
Leigh syndrome (LS)
256000
AR;Mi
72
62
BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
-
-
00611
MC1DN
mitochondrial complex I deficiency, nuclear (MC1DN)
252010
AR
31
29
ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, TIMMDC1
-
-
06672
MC1DN10
Mi complex I deficiency, nuclear type 10
618233
AR
-
-
NDUFAF2
-
-
02490
MC5DN1
mitochondrial complex V (ATP synthase) deficiency, nuclear, type 1 (MC5DN-1)
604273
AR
-
-
ATPAF2
-
-
05189
MEHMO;MRXS20;MRXS25
mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity (MEHMO)
300148
XLR
4
4
EIF2S3
-
-
02638
meningioma
meningioma, familial, susceptibility to
607174
AD
65
65
MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU
-
-
00614
MRD20
mental retardation, autosomal dominant, type 20 (MRD20)
613443
AD
10
10
MEF2C
-
-
07155
MRD64
intellectual developmental disorder, autosomal dominant, type 64
619188
AD
-
-
ZNF292
-
-
04025
MRT40
mental retardation, autosomal recessive, type 40 (MRT-40)
615599
AR
-
-
TAF2
-
-
00040
MTDPS7
mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7)
271245
AR
7
7
C10orf2
-
-
02636
MYMY2
moyamoya disease, type 2 (MYMY-2)
607151
-
-
-
RNF213
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3873
3688
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, 79 more
-
-
05778
NEDAMSS
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)
618088
AD
3
4
IRF2BPL
-
-
07161
NEDLBAS
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
620292
AD
-
-
EIF2C1
-
-
06018
NEDMHM
?Neurodevelopmental disorder with midbrain and hindbrain malformations
617523
AR
1
-
ARHGEF2
-
-
00515
NF
neurofibromatosis
-
-
760
558
NF1, NF2
-
-
01159
NF2
neurofibromatosis, type 2 (NF-2)
101000
-
138
14
NF2
-
-
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
-
-
02695
PARK11
Parkinson disease, type 11 (PARK-11)
607688
-
-
-
GIGYF2
-
-
00041
PEOA3
ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3)
609286
AD
3
1
C10orf2
-
-
02382
PGL2
paragangliomas, type 2 (PGL-2)
601650
AD
-
-
SDHAF2
-
-
06909
POF19
ovarian failure, premature, type 19
619245
AR
-
-
HSF2BP
-
-
04386
PRLTS5
Perrault syndrome, type 5 (PRLTS5)
616138
AR
1
1
C10orf2
-
-
01837
PVOD2
venoocclusive disease, pulmonary, type 2 (PVOD-2)
234810
AR
-
-
EIF2AK4
-
-
05876
RDMS
dystrophy, retinal, with macular staphyloma
617547
AR
-
-
C21orf2
-
-
02055
Revesz
Revesz syndrome
268130
AD
2
2
TINF2
-
-
04061
RHDA2
hypodysplasia/aplasia, renal, type 2 (RHDA-2)
615721
AR
-
-
FGF20
-
-
03625
RPRGL
pregnancy loss, recurrent, susceptibility to (RPRGL)
-
-
7
7
ANXA5, F2, F5
-
-
03626
RPRGL2
pregnancy loss, recurrent, susceptibility to, type 2 (RPRGL-2)
614390
AD
-
-
F2
-
-
03082
RRQTL1
recombination rate quantitative trait locus 1 (RRQTL-1)
612042
-
-
-
RNF212
-
-
02843
SCA26
ataxia, spinocerebellar, type 26 (SCA-26)
609306
AD
-
-
EEF2
-
-
02457
SEMDJL2
dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-2)
603546
AD
8
7
KIF22
-
-
03945
SLI
language impairment, specific (SLI)
-
-
20
20
TM4SF20
-
-
05570
SLI5
language impairment, specific, type 5 (SLI-5)
615432
AD
-
-
TM4SF20
-
autosomal dominant
05877
SMDAX
dysplasia, spondylometaphyseal, axial
602271
AR
-
-
C21orf2
-
-
04182
SMDP
surfactant metabolism dysfunction, pulmonary (SMDP)
-
-
-
-
CSF2RA
-
-
04181
SMDP4
surfactant metabolism dysfunction, pulmonary, type 4 (SMDP4)
300770
-
-
-
CSF2RA
-
-
03614
SMDP5
surfactant metabolism dysfunction, pulmonary, type 5 (SMDP-5)
614370
AR
-
-
CSF2RB
-
-
05562
SPGF
spermatogenic failure (SPGF)
-
-
96
94
ACRC, AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DNAH2, DNALI1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, 6 more
-
-
06684
SPGF43
Spermatogenic failure 43
618751
AR
-
-
SPEF2
-
-
06919
SPGF62
spermatogenic failure, type 62
619673
AR
-
-
RNF212
-
-
00232
SRS;RSS
Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))
180860
AD
115
113
CDKN1C, HMGA2, IGF2, PLAG1
-
-
05389
SWNTS
Schwannomatosis (SWNTS)
-
-
89
88
LZTR1, NF2, SMARCB1
-
-
06701
THAMY
?Thrombocytopenia, anemia, and myelofibrosis
617441
AR
-
-
C6orf25
-
-
01581
THPH1
thrombophilia,due to thrombin defect (THPH1)
188050
AD
4
4
F13A1, F2, HABP2, MTHFR
-
-
01405
TOC
tylosis, with esophageal cancer (TOC, Howel-Evans syndrome)
148500
AD
-
-
RHBDF2
-
-
05983
TPFS
Turnpenny-Fry syndrome (TPFS)
618371
AD
-
-
PCGF2
-
-
00748
TTD
trichothiodystrophy (TTD)
-
-
19
19
ERCC2, ERCC3, GTF2H5, MPLKIP
-
-
04325
TTD3
trichothiodystrophy, type 3, photosentitive (TTD-3)
616395
-
-
-
GTF2H5
-
-
06781
TTD6
Trichothiodystrophy 6, nonphotosensitive
616943
AR
-
-
GTF2E2
-
-
00754
VDEGS
Van den Ende-Gupta syndrome
600920
AR
1
1
SCARF2
-
-
02470
VWM
leukoencephalopathy with vanishing white matter (VWM)
603896
AR
59
59
EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
-
autosomal recessive
02378
WT5
Wilms tumor, type 5 (WT-5)
601583
AD;SMu
-
-
POU6F2
-
-
00840
XLID109
intellectual developmental disorder, X-linked, type 109 (FRAXE type)
309548
XLR
-
-
AFF2
-
-
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