Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker CTD_human Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker CTD_human Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment. 22426309

2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.520 Biomarker CTD_human Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. 22634756

2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082

2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.320 Biomarker CTD_human Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of the chromatin-remodeling genes ARID1A and ARID1B were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival. 23202128

2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.300 Biomarker CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082

2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082

2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082

2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082

2018