Global Variome shared LOVD
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All diseases
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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
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.
40 entries on 1 page. Showing entries 1 - 40.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00600
-
nevus, epidermal
162900
-
1
1
FGFR3, HRAS, NRAS, PIK3CA
-
-
01556
-
keratosis, seborrheic
182000
-
-
-
PIK3CA
-
-
03854
AGM7
agammaglobulinemia, type 7, autosomal recessive (AGM7)
615214
AR
-
-
PIK3R1
-
-
05519
AOA
ataxia-oculomotor apraxia (AOA)
-
-
15
14
APTX, PIK3R5, PNKP, SETX
-
-
00853
AOA3
ataxia-oculomotor apraxia, type 3 (AOA-3)
615217
AR
1
1
PIK3R5
-
-
00683
cancer, breast
cancer, breast, susceptibility
114480
-
8104
787
AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more
-
-
03381
cancer, gastric
cancer, gastric (Neoplasm of stomach)
613659
-
102
88
APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA
-
-
01221
cancer, liver
cancer, hepatocellular (HCC)
114550
-
4
4
APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53
liver
-
00639
cancer, lung
cancer, lung (adenocarcinoma)
211980
-
55
43
BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18
-
-
00424
cancer, ovarian
cancer, ovarian
167000
-
233
165
AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA
-
-
01267
CFD
dystrophy, corneal, Fleck
121850
AD
-
-
PIKFYVE
-
-
06553
CLAPO
CLAPO syndrome, somatic
613089
-
-
-
PIK3CA
-
-
03203
CLOVE
CLOVE syndrome, somatic (CLOVE, overgrowth, lipomatous, congenital, vascular malformations, and epidermal nevi)
612918
-
-
-
PIK3CA
-
-
00091
CRC
cancer, colorectal, susceptibility to (CRC)
114500
AD;SMu
3065
1838
AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more
-
-
06735
CVID13
Immunodeficiency, common variable, 13
616873
AD
-
-
IKZF1
-
-
03831
CWS5
Cowden syndrome, type 5 (CWS-5)
615108
-
1
1
PIK3CA
-
-
05524
EDAID
dysplasia, ectodermal, and immunodeficiency (EDAID)
-
-
1
1
IKBKG, NFKBIA
-
-
00158
EDAID1
dysplasia, ectodermal, and immunodeficiency, type 1 (EDAID-1, HEDID)
300291
-
-
-
IKBKG
-
-
04660
EIEE30
encephalopathy, epileptic, early infantile, type 30 (EIEE-30)
616341
AD
2
2
SIK1
-
-
05383
HSAN
neuropathy, sensory and autonomic, hereditary (HSAN)
-
-
22
22
IKBKAP
-
-
01758
HSAN3
neuropathy, sensory and autonomic, hereditary, type III (HSAN-3, dysautonomia)
223900
AR
-
-
IKBKAP
-
-
00139
ID
intellectual disability (ID)
-
-
2695
2377
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
03980
IMD14
Immunodeficiency 14
615513
AD
-
-
PIK3CD
-
-
06795
IMD15A
Immunodeficiency 15A
618204
AD
-
-
IKBKB
-
-
04019
IMD15B
immunodeficiency, type 15B
615592
AR
-
-
IKBKB
-
-
00163
IMD33
Immunodeficiency 33
300636
XLR
1
1
IKBKG
-
-
04613
IMD36
immunodeficiency, type 36 (IMD-36)
616005
AD
-
-
PIK3R1
-
-
00160
IMDI
immunodeficiency, isolated (IMDI)
300584
-
2
2
IKBKG
-
-
00161
IP
incontinentia pigmenti (IP)
308300
XLD
140
61
IKBKG
-
-
00162
IPD2
invasive pneumococcal disease, recurrent isolated, type 2 (IPD2)
300640
XLD
-
-
IKBKG
-
-
00382
MCAP
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (MCAP)
602501
-
2
2
PIK3CA
-
-
01429
MDB
medulloblastoma (MDB)
155255
AD;AR;SMu
33
31
BRCA2, CTNNB1, IKBKAP, PTCH2, SUFU
-
-
06548
MEGALODACTYLY
Macrodactyly, somatic
155500
-
-
-
PIK3CA
-
-
00844
MPPH1
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1)
603387
AD
3
3
PIK3R2
-
-
06565
MRT54
Mental retardation, autosomal recessive 54
617028
AR
-
-
TNIK
-
-
00796
MRT6
mental retardation, autosomal recessive, type 6 (MRT-6)
611092
AR
-
-
GRIK2
-
-
06144
OCSKD
Oculoskeletodental syndrome
618440
AR
-
-
PIK3C2A
-
-
00159
OLEDAID
dysplasia, ectodermal, anhidrotic, lymphedema and immunodeficiency (OLEDAID)
300301
-
-
-
IKBKG
-
-
06128
SEMDK
?Spondyloepimetaphyseal dysplasia, Krakow type
618162
AR
-
-
SIK3
-
-
02070
SHORT
SHORT syndrome (SHORT)
269880
AD
6
6
PIK3R1
-
-
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