Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2017
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437

2016
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624

2015
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384

2015
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609

2014
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814

2014
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 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
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 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
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 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
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. 21801163

2012
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B. 20086098

2010
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Autosomal dominant syndrome resembling Coffin-Siris syndrome. 16691594

2006
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. 11170086

2001
dbSNP: rs1554226131
rs1554226131
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR The Coffin-Siris syndrome: report of a family and further delineation. 6499251

1984