Global Variome shared LOVD
DMD (dystrophin)
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Curator:
Johan den Dunnen
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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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Matches
Text
Arg
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combination
Text
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Date
2020
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|
Date
2020-03|2020-04
all entries matching March or April, 2020
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Date
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all entries not matching March, 2020
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Date
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Date
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Date
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all entries after June, 2020
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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
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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'
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21 entries on 1 page. Showing entries 1 - 21.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
02491
-
acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation
604278
AR
13
13
SLC4A4
-
-
03042
-
acidosis, tubular, renal, distal, with hemolytic anemia
611590
AR
-
-
SLC4A1
-
-
03618
-
blood group system, Chido/Rodgers
614374
-
-
-
C4A
-
-
03620
C4AD
complement component 4a deficiency (C4AD)
614380
AR
-
-
C4A
-
-
01720
CDPD
dystrophy, corneal, endothelial, and perceptive deafness
217400
AR
-
-
SLC4A11
-
-
06326
CHC
cryohydrocytosis
185020
AD
-
-
SLC4A1
-
-
01721
CHED
dystrophy, corneal, endothelial
217700
AR
46
16
SLC4A11
-
autosomal recessive
01195
DI
blood group system, Diego system
110500
-
-
-
SLC4A1
-
-
03296
FECD4
dystrophy, corneal, Fuchs endothelial, type 4
613268
-
-
-
SLC4A11
-
-
02374
FR
blood group system, Froese
601551
-
-
-
SLC4A1
-
-
00309
MLRS
malaria, susceptibility to
611162
-
3
1
CD36, CISH, CR1, DARC, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3531
3346
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 70 more
-
-
07142
NEDHBA
neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
620746
AR
-
-
SLC4A10
-
-
01539
RTADD
acidosis, tubular, renal, distal, autosomal dominant (RTADD)
179800
AD
-
-
SLC4A1
-
-
05872
SAO
ovalocytosis, South Asian type (SAO)
166900
AD
1
-
SLC4A1
-
-
01417
SLE
lupus erythematosus, systemic, susceptibility to (SLE)
152700
AD
33
31
BANK1, C4A, CTLA4, DNASE1, FCGR2A, FCGR2B, PTPN22, TREX1
-
-
05833
SPH
spherocytosis (SPH)
-
-
2
2
ANK1, EPB42, SLC4A1, SPTB
-
-
03174
SPH4
spherocytosis, type 4 (SPH4)
612653
AD
8
-
SLC4A1
-
-
02373
SW
blood group system, Swann system (SW)
601550
-
-
-
SLC4A1
-
-
01208
WD
blood group system, Waldner type (WD)
112010
-
-
-
SLC4A1
-
-
01209
WR
blood group system, Wright antigen (WR)
112050
-
-
-
SLC4A1
-
-
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