Global Variome shared LOVD
ITGB2 (integrin, beta 2 (complement component 3 re...))
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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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Date
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Date
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Date
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Date
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Numeric
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Numeric
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Numeric
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all entries not exactly matching 23
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Numeric
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Numeric
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combination
Numeric
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Matches
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all entries containing 'South Asian', but not containing 'South East Asian'
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28 entries on 1 page. Showing entries 1 - 28.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
05816
ALGAZ
Al-Gazali syndrome (ALGAZ)
609465
AR
1
-
B3GALT6
-
-
01203
blood group P
blood group system, P1PK
111400
-
-
-
A4GALT, B3GALNT1
-
-
02629
CDG2D
glycosylation, congenital disorder of, type IId (CDG-2D)
607091
AR
-
-
B4GALT1
-
-
00519
CRCS1
cancer, colorectal, susceptibility to, type 1 (CRCS-1)
608812
-
-
-
GALNT12
-
-
00169
EDS
Ehlers-Danlos syndrome (EDS)
-
-
1800
241
ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB
-
-
05754
EDSSPD
Ehlers-Danlos, spondylodysplastic syndrome (EDSSPD)
-
-
5
5
B4GALT7
-
-
00911
EDSSPD1
Ehlers-Danlos, progeroid, spondylodysplastic syndrome, type 1 (EDSSPD1)
130070
AR
5
-
B4GALT7
-
-
03902
EDSSPD2
Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2)
615349
AR
17
-
B3GALT6
-
-
04676
EIEE15
encephalopathy, epileptic, early infantile, type 15 (EIEE-15)
615006
AR
1
1
ST3GAL3
-
-
04481
ETL8
epilepsy?, temporal lobe, familial, type 8 (ETL-8)
616461
AD
-
-
GAL
-
-
01800
GALAC1
galactosemia (galactose-1-phosphate uridylyltransferase deficiency)
230400
AR
7
7
GALT
-
autosomal recessive
01798
GALAC2
galactokinase deficiency, cataract
230200
AR
2
2
GALK1
-
-
01799
GALAC3
galactose epimerase deficiency (UDPglucose-4-epimerase deficiency)
230350
AR
-
-
GALE
-
-
06498
GALAC4
Galactosemia IV
618881
-
-
-
GALM
-
-
03807
GLOB
blood group system, globoside
615021
-
-
-
B3GALNT1
-
-
04472
HFTC
calcinosis, tumoral, hyperphosphatemic, familial (HFTC)
211900
AR
-
-
FGF23, GALNT3, KL
-
-
00139
ID
intellectual disability (ID)
-
-
2697
2379
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
01882
Krabbe
Krabbe disease (galactosylceramide beta-galactosidase deficiency)
245200
AR
1
1
GALC
-
autosomal recessive
00339
LRS
Larsen syndrome (LRS)
150250
AD
93
25
B4GALT7, FLNB
-
-
02760
MCI1
myocardial infarction, susceptibility to, type 1 (MCI-1)
608446
-
41
2
ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4
-
-
03846
MDDGA11
dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A11 (MDDGA-11)
615181
AR
-
-
B3GALNT2
-
-
01937
MPS4A
mucopolysaccharidosis, type IVA (MPS-4A)
253000
AR
1
-
GALNS
-
-
00791
MRT12
mental retardation, autosomal recessive, type 12 (MRT-12)
611090
AR
2
2
ST3GAL3
-
-
06804
SDJLABA
Skeletal dysplasia, mild, with joint laxity and advanced bone age
618870
-
-
-
CSGALNACT1
-
-
02082
SEMDJL1
dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1)
271640
AR
17
2
B3GALT6
-
-
02819
SPDRS
salt and pepper developmental regression syndrome (SPDRS)
609056
DD
5
5
ST3GAL5
-
124/125 psychomotor delay, 71/125 microcephaly, 98/125 epilepsy, 80/125 dystonia/movement disorder, 16/125 sit/walk independently, 100/125 developmental stagnation/failure to thrive, 118/125 development delay, 41/125 hearing impairment, 38/125 vision impairment, 43/125 abnormal pigmentation, 90/125 irritability, 52/125 feeding difficulties, 30/125 gastrostomy feeding tube, 7/125 facial dysmorphic features, 19/125 scoliosis, 52/125 abnormal electroencephalographic
04372
SPG26
paraplegia, spastic, autosomal recessive, type 26 (SPG-26)
609195
AR
-
-
B4GALNT1
-
-
02171
TNPS
Tn polyagglutination syndrome (TNPS)
300622
-
-
-
C1GALT1C1
-
-
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