Gene2Function

Disease Annotation

Species: Human (Homo sapiens)
GeneID: 6597
Symbol: SMARCA4
Description: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

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Disease_Term	Source	Rank	Other Values
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)	OMIM	high	Genome region : 19p13.2 OMIM_ID : 603254 OMIM gene ID OMIM_ID : 613325 OMIM phenotype ID
Coffin-Siris syndrome 4, 614609 (3)	OMIM	high	Genome region : 19p13.2 OMIM_ID : 603254 OMIM gene ID OMIM_ID : 614609 OMIM phenotype ID
LDL cholesterol	GWAS	high	Pubmed_ID : 18179892 Pubmed_ID : 18193043 Pubmed_ID : 18193044 Pubmed_ID : 18262040 Pubmed_ID : 18802019 Pubmed_ID : 19060906 Pubmed_ID : 19060910 Pubmed_ID : 19060911 Pubmed_ID : 20686565 Pubmed_ID : 20864672 Pubmed_ID : 21059979 Pubmed_ID : 21347282 Pubmed_ID : 23067351 Pubmed_ID : 23726366 Pubmed_ID : 24097068 Pubmed_ID : 25961943 Pubmed_ID : 26582766 Pubmed_ID : 26780889 Pubmed_ID : 27036123
Coronary artery disease or ischemic stroke	GWAS	high	Pubmed_ID : 24262325
Coronary artery disease or large artery stroke	GWAS	high	Pubmed_ID : 24262325
Inflammatory skin disease	GWAS	high	Pubmed_ID : 25574825
Coronary artery disease	GWAS	high	Pubmed_ID : 21239051 Pubmed_ID : 24262325 Pubmed_ID : 26343387 Pubmed_ID : 26708285