Coffin-siris syndrome | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

Log in to bookmark this disease

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COFFIN-SIRIS SYNDROME	1465 C0265338 MONDO:0015452 MESH:C536436	ARID2	Unknown	26238514 28124119 33051312 35477757 35813374	ClinGen, Disgenet, GWAS catalog, Orphanet	ATP-dependent chromatin remodeling Hepatocellular carcinoma RMTs methylate histone arginines +1 more
		BICRA	Unknown	29374058 33232675 36437209 37485815 38117302 38867597	ClinGen, Disgenet, GWAS catalog	ATP-dependent chromatin remodeling
		DPF2	Unknown	29429572 31207137 31706665 35607970	CTD, ClinGen, Disgenet, Orphanet	ATP-dependent chromatin remodeling
		KDM8	Unknown	—	Disgenet	—
		SMARCA2	Unknown	22426308	CTD, Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SMARCA4	Unknown	16287714 19171905 22426308 23556151 23637025 24700502 25724810	CTD, ClinGen, Disgenet, Orphanet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
		SMARCC2	Unknown	23643363 25590979 27392482 27620904 30123105 30580808 34881817 37119511 37551667	CTD, ClinGen, Disgenet, Orphanet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SMARCD1	Unknown	30879640	Disgenet, GenCC, Orphanet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SMARCE1	Unknown	19245665 22426308 23556151 23906836 23929686 25169878 27264197 30499906 30548424 31273213 31530938 31675646 32732226 37853563	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SOX11	Unknown	24886874	CTD, Disgenet, GWAS catalog, Orphanet	—
		SOX4	Unknown	30661722	Disgenet, GWAS catalog, Orphanet	MicroRNAs in cancer Deactivation of the beta-catenin transactivating complex
COFFIN-SIRIS SYNDROME 1	C3281201	ARID2	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Hepatocellular carcinoma RMTs methylate histone arginines +1 more
		ARSL	Unknown	—	Disgenet	Glycosphingolipid metabolism The activation of arylsulfatases
		BICRA	Unknown	—	Disgenet	ATP-dependent chromatin remodeling
		SMARCA2	Unknown	22822383 32694869 22366787	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SMARCA4	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
		SMARCC2	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SOX4	Unknown	—	Disgenet	MicroRNAs in cancer Deactivation of the beta-catenin transactivating complex
COFFIN-SIRIS SYNDROME 2	614607 C3553247	ARID1A	Unknown	22405089 22426309 23906836 35579625	Disgenet, HPO, ClinGen	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
COFFIN-SIRIS SYNDROME 3	614608 C3553248	SMARCB1	Unknown	22426308 22726846 23815551 23906836 23929686 25249037 29907796	Disgenet, HPO, ClinGen	ATP-dependent chromatin remodeling Viral life cycle - HIV-1 Thermogenesis +3 more
COFFIN-SIRIS SYNDROME 4	614609 C3553249	SMARCA4	Unknown	—	Disgenet, HPO, ClinGen	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
COFFIN-SIRIS SYNDROME 6	C4540499	GIGYF1	Unknown	—	Disgenet	—
COFFIN-SIRIS SYNDROME 9	C4014528	SOX11	Unknown	—	Disgenet	—