Global Variome shared LOVD
CRYBB3 (crystallin, beta B3)
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Curators:
Lars Hansen
and
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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Date
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Date
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Date
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Date
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combination
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Numeric
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Numeric
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all entries exactly matching 23 or 24
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Numeric
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all entries not exactly matching 23
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combination
Numeric
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Some more advanced examples:
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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'
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00315
cancer, bladder
cancer, bladder
109800
-
63
63
FGFR3, HRAS, KRAS, RB1
-
-
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
-
-
06621
EIEE45
Epileptic encephalopathy, early infantile, 45
617153
AD
-
-
GABRB1
-
-
00503
FNSS
sleep, short, natural, familial
-
-
2
2
ADRB1, BHLHE41, NPSR1
-
-
05671
FNSS2
sleep, short, natural, familial, type 2 (FNSS2)
618591
AD
-
-
ADRB1
-
-
02979
HDLCQ6
HDL cholesterol level, quantitative trait locus 6 (HDLCQ-6)
610762
-
-
-
SCARB1
-
-
04501
HLADRB1
major histocompatibility complex, class II, DR beta-1 (HLA-DRB1)
142857
AD
-
-
HLA-DRB1
-
-
04516
IMD30
immunodeficiency, type 30 (IMD-30)
614891
AR
179
172
IL12RB1
-
-
03456
LCA8
Leber congenital amaurosis, type 8
613835
AR
-
-
CRB1
-
-
01288
MS
multiple sclerosis susceptibility to (MS)
126200
Mu
-
-
HLA-DQB1, HLA-DRB1, PDCD1
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3538
3353
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 71 more
-
-
05960
NEDHYMS
neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS)
618862
AR
-
-
ADARB1
-
-
01989
OSTEOSARCOMA
osteosarcoma
259500
SMu
1
1
CHEK2, RB1, TP53
-
-
01507
PPCRA
atrophy, chorioretinal, pigmented paravenous (PPCRA)
172870
AD
5
5
CRB1
-
-
01546
RA
arthritis, rheumatoid (RA)
180300
-
-
-
CD244, CIITA, HLA-DRB1, IL10, NFKBIL1, PADI4, PTPN22, SLC22A4
-
-
01544
RB1
retinoblastoma, type 1
180200
AD;SMu
67
66
RB1
-
-
02644
RHR
resting heart rate, variation
607276
-
-
-
ADRB1
-
-
02286
RP12
retinitis pigmentosa, with/without PPRPE, type 12
600105
AR
12
12
CRB1
-
-
01558
SCLC1
cancer, lung, small cell (SCLS)
182280
-
-
-
RB1
-
-
01550
SS1
sarcoidosis, susceptibility to, type 1 (SS-1)
181000
AD
-
-
HLA-DRB1
-
-
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