rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Autosomal dominant syndrome resembling Coffin-Siris syndrome.
16691594
2006
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
26395437
2016
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
26376624
2015
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
23906836
2013
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
22405089
2012
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
21801163
2012
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
ARID1B-mediated disorders: Mutations and possible mechanisms.
25674384
2015
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.
20086098
2010
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
24674232
2014
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
24569609
2014
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
22426309
2012
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
22426308
2012
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.
28867767
2017
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.
11170086
2001
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
27389779
2017
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
The contribution of de novo coding mutations to autism spectrum disorder.
25363768
2014
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
23929686
2013
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
The ARID1B phenotype: what we have learned so far.
25169814
2014
rs1554237050
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
The Coffin-Siris syndrome: report of a family and further delineation.
6499251
1984