| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. | 30349098 | 2019 | ||||
|
0.600 | Biomarker | disease | MGD | Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. | 28695822 | 2017 | ||||
|
0.600 | CausalMutation | disease | CLINVAR | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | 26350204 | 2015 | ||||
|
0.600 | CausalMutation | disease | CLINVAR | Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. | 22426309 | 2012 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. | 22405089 | 2012 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.600 | GeneticVariation | disease | CLINVAR | |||||||
|
0.400 | CausalMutation | disease | CLINVAR | |||||||
|
0.400 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.300 | Biomarker | disease | GENOMICS_ENGLAND | Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. | 22426308 | 2012 | ||||
|
0.300 | Biomarker | disease | GENOMICS_ENGLAND | Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. | 22366787 | 2012 | ||||
|
0.300 | Biomarker | disease | GENOMICS_ENGLAND | Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. | 20137775 | 2010 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. | 29429572 | 2018 |