Global Variome shared LOVD
ARID2 (AT rich interactive domain 2 (ARID, RFX-like))
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Global Variome, with Curator vacancy
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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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combination
Numeric
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Example
Matches
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6 entries on 1 page. Showing entries 1 - 6.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
03191
ASD5
septal defect, atrial, type 5 (ASD5)
612794
AD
3
3
ACTC1
-
-
03331
CMD1R;LVNC4
cardiomyopathy, dilated, type 1R (CMD-1R, left ventricular noncompaction, type 4 (LVNC-4))
613424
AD
2
2
ACTC1
-
-
03088
CMH11
cardiomyopathy, hypertrophic, familial, type 11 (CMH-11)
612098
AD
14
15
ACTC1
-
-
00115
CRMCC
microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)
612199
AR
33
32
CTC1, OBFC1, TEN1
-
-
00120
CTC1related
CTC1-related diseases
-
AR
4
3
CTC1
-
-
00119
DKC
dyskeratosis congenita (DKC)
-
-
19
19
CTC1
-
-
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