Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COFFIN-LOWRY SYNDROME	192 303600 C0265252 MESH:D038921 MONDO:0010561	RPS6KA3	Causal	20301520 21488662 8955270 16879200 14986828 12558110 9837815 10094187 9887375 17717706 15214012 11992250 12439904 10528858 10319851 11180593 16691578 17100996 21614984 23261961 25044551 26043507 26297997 29678278 31400131	CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet	MAPK signaling pathway Oocyte meiosis mTOR signaling pathway +13 more
COFFIN-SIRIS SYNDROME	1465 C0265338 MESH:C536436 MONDO:0015452	ARID1A	Causal	22426308 23556151 23906836 23929686 26806701 31530938	CTD, ClinGen, Disgenet, Orphanet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ARID1B	Causal	22426308 22426309 23556151 23906836 23929686 25674384	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SMARCB1	Causal	22426308 23556151 23815551 23906836 23929686 25168959 29907796 31273213 31759698	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	ATP-dependent chromatin remodeling Viral life cycle - HIV-1 Thermogenesis +3 more
		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 135900 MONDO:0007617	ARID1A	Causal	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ARID1B	Causal	22426309 22426308 22405089 30349098 24569609 26395437 27474217 27474218 27511161 27570168 27672547 28323383 29504208 29864107 30933046 31105273 31628733 31733398 31981384 32161024 32339967 32462407 32574611 32618029 32924124 33714	ClinVar, Disgenet, GWAS catalog, HPO, ClinGen	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		DPF2	Causal	—	Disgenet	ATP-dependent chromatin remodeling
		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 10	C4760583 MONDO:0032791	SOX4	Causal	—	ClinVar, Disgenet, GenCC	MicroRNAs in cancer Deactivation of the beta-catenin transactivating complex
COFFIN-SIRIS SYNDROME 11	618779 C5241442 MONDO:0032912	SMARCD1	Causal	30879640	ClinVar, Disgenet, GWAS catalog, HPO	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
COFFIN-SIRIS SYNDROME 12	619325 C5444111 MONDO:0025699	BICRA	Causal	33232675	ClinVar, Disgenet, GenCC, HPO, ClinGen	ATP-dependent chromatin remodeling
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 5	616938 C4310788 MONDO:0014838	SMARCE1	Causal	22426308 23906836 23929686 27264197 30499906 31530938	ClinVar, Disgenet, GWAS catalog, HPO, ClinGen	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
COFFIN-SIRIS SYNDROME 6	617808 C4540499 MONDO:0033492	ARID2	Causal	25299188 26238514 28124119	CTD, ClinVar, Disgenet, HPO, ClinGen	ATP-dependent chromatin remodeling Hepatocellular carcinoma RMTs methylate histone arginines +1 more
COFFIN-SIRIS SYNDROME 6	617808 C4540499 MONDO:0033492	GIGYF1	Unknown	—	Disgenet	—
COFFIN-SIRIS SYNDROME 7	618027 C4747954 MONDO:0054831	DPF2	Causal	29429572	ClinVar, Disgenet, GWAS catalog, HPO, ClinGen	ATP-dependent chromatin remodeling
COFFIN-SIRIS SYNDROME 8	618362 C5193054 MONDO:0032702	SMARCC2	Causal	—	ClinVar, Disgenet, GenCC, HPO, ClinGen	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
COFFIN-SIRIS SYNDROME 9	C4014528	SOX11	Unknown	—	Disgenet	—

Coffin-siris syndrome

Bookmark This Disease