SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1)

Gene

• Entrez ID: 6605
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit E1
• Gene symbol: SMARCE1
• Synonyms (NCBI Gene): BAF57, CSS5
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201484943	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906857	T>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397509405	G>A	Risk-factor	Stop gained, coding sequence variant
rs397509406	A>G	Risk-factor	Splice donor variant
rs397509407	C>G,T	Risk-factor, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs397509408	->G	Risk-factor	Frameshift variant, coding sequence variant
rs797045990	CACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854603	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518166	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060501395	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064796712	GA>TT	Likely-pathogenic	Intron variant
rs1085307924	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1426841589	C>A,T	Pathogenic	Splice donor variant
rs1555605347	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555605750	GC>A	Pathogenic	Frameshift variant, coding sequence variant
rs1555605752	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555605795	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555605893	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597746020	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020807	hsa-miR-155-5p	Proteomics	18668040
MIRT027099	hsa-miR-103a-3p	Sequencing	20371350
MIRT029727	hsa-miR-26b-5p	Microarray	19088304
MIRT047936	hsa-miR-30c-5p	CLASH	23622248
MIRT043752	hsa-miR-328-3p	CLASH	23622248
MIRT052720	hsa-miR-1260b	CLASH	23622248
MIRT653368	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653367	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT653366	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653365	hsa-miR-5193	HITS-CLIP	23824327
MIRT287112	hsa-miR-3183	HITS-CLIP	23824327
MIRT287116	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT287119	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653364	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT653363	hsa-miR-4518	HITS-CLIP	23824327
MIRT287120	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT077050	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT077049	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT077055	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT653362	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653361	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT287121	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT641906	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT641905	hsa-miR-4490	HITS-CLIP	23824327
MIRT641904	hsa-miR-4774-5p	HITS-CLIP	23824327
MIRT641903	hsa-miR-3182	HITS-CLIP	23824327
MIRT641902	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT505593	hsa-miR-107	PAR-CLIP	20371350
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	20371350
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT505590	hsa-miR-1184	PAR-CLIP	20371350
MIRT505589	hsa-miR-1205	PAR-CLIP	20371350
MIRT505588	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	20371350
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	20371350
MIRT505585	hsa-miR-544a	PAR-CLIP	20371350
MIRT505593	hsa-miR-107	PAR-CLIP	21572407
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT554117	hsa-miR-3910	PAR-CLIP	21572407
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT554116	hsa-miR-4476	PAR-CLIP	21572407
MIRT554115	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT505590	hsa-miR-1184	PAR-CLIP	21572407
MIRT505589	hsa-miR-1205	PAR-CLIP	21572407
MIRT505588	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT554114	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT554113	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT554112	hsa-miR-558	PAR-CLIP	21572407
MIRT554111	hsa-miR-4487	PAR-CLIP	21572407
MIRT554110	hsa-miR-1256	PAR-CLIP	21572407
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT554108	hsa-miR-8065	PAR-CLIP	21572407
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT505585	hsa-miR-544a	PAR-CLIP	21572407
MIRT505593	hsa-miR-107	PAR-CLIP	23446348
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	23446348
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	23446348
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	23446348
MIRT505590	hsa-miR-1184	PAR-CLIP	23446348
MIRT505589	hsa-miR-1205	PAR-CLIP	23446348
MIRT505588	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	23446348
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT505585	hsa-miR-544a	PAR-CLIP	23446348
MIRT736306	hsa-miR-206	Luciferase reporter assay, RNA-seq, qRT-PCR	32129700
MIRT653368	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653367	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT653366	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653365	hsa-miR-5193	HITS-CLIP	23824327
MIRT287112	hsa-miR-3183	HITS-CLIP	23824327
MIRT287116	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT287119	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653364	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT653363	hsa-miR-4518	HITS-CLIP	23824327
MIRT287120	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT077050	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT077049	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT077055	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT653362	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653361	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT287121	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT641906	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT641905	hsa-miR-4490	HITS-CLIP	23824327
MIRT641904	hsa-miR-4774-5p	HITS-CLIP	23824327
MIRT641903	hsa-miR-3182	HITS-CLIP	23824327
MIRT641902	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT505593	hsa-miR-107	PAR-CLIP	20371350
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	20371350
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT505590	hsa-miR-1184	PAR-CLIP	20371350
MIRT505589	hsa-miR-1205	PAR-CLIP	20371350
MIRT505588	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	20371350
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	20371350
MIRT505585	hsa-miR-544a	PAR-CLIP	20371350
MIRT505593	hsa-miR-107	PAR-CLIP	21572407
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT554117	hsa-miR-3910	PAR-CLIP	21572407
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT554116	hsa-miR-4476	PAR-CLIP	21572407
MIRT554115	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT505590	hsa-miR-1184	PAR-CLIP	21572407
MIRT505589	hsa-miR-1205	PAR-CLIP	21572407
MIRT505588	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT554114	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT554113	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT554112	hsa-miR-558	PAR-CLIP	21572407
MIRT554111	hsa-miR-4487	PAR-CLIP	21572407
MIRT554110	hsa-miR-1256	PAR-CLIP	21572407
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT554108	hsa-miR-8065	PAR-CLIP	21572407
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT505585	hsa-miR-544a	PAR-CLIP	21572407
MIRT505593	hsa-miR-107	PAR-CLIP	23446348
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	23446348
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	23446348
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	23446348
MIRT505590	hsa-miR-1184	PAR-CLIP	23446348
MIRT505589	hsa-miR-1205	PAR-CLIP	23446348
MIRT505588	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	23446348
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT505585	hsa-miR-544a	PAR-CLIP	23446348
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT1372043	hsa-miR-1200	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372045	hsa-miR-135a	CLIP-seq
MIRT1372046	hsa-miR-135b	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT1372049	hsa-miR-214	CLIP-seq
MIRT1372050	hsa-miR-2467-5p	CLIP-seq
MIRT1372051	hsa-miR-3119	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372053	hsa-miR-3144-5p	CLIP-seq
MIRT1372054	hsa-miR-3188	CLIP-seq
MIRT1372055	hsa-miR-3191	CLIP-seq
MIRT1372056	hsa-miR-3199	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372058	hsa-miR-320a	CLIP-seq
MIRT1372059	hsa-miR-320b	CLIP-seq
MIRT1372060	hsa-miR-320c	CLIP-seq
MIRT1372061	hsa-miR-320d	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT1372064	hsa-miR-3616-3p	CLIP-seq
MIRT1372065	hsa-miR-3619-5p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT1372068	hsa-miR-3663-5p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT1372073	hsa-miR-3920	CLIP-seq
MIRT1372074	hsa-miR-3975	CLIP-seq
MIRT1372075	hsa-miR-3977	CLIP-seq
MIRT1372076	hsa-miR-4291	CLIP-seq
MIRT1372077	hsa-miR-4303	CLIP-seq
MIRT1372078	hsa-miR-4324	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372080	hsa-miR-4429	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372082	hsa-miR-4464	CLIP-seq
MIRT1372083	hsa-miR-4474-5p	CLIP-seq
MIRT1372084	hsa-miR-450b-3p	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372086	hsa-miR-4515	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT1372088	hsa-miR-455-5p	CLIP-seq
MIRT1372089	hsa-miR-4646-5p	CLIP-seq
MIRT1372090	hsa-miR-4649-3p	CLIP-seq
MIRT1372091	hsa-miR-4652-5p	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT1372093	hsa-miR-4713-3p	CLIP-seq
MIRT1372094	hsa-miR-4719	CLIP-seq
MIRT1372095	hsa-miR-4721	CLIP-seq
MIRT1372096	hsa-miR-4747-5p	CLIP-seq
MIRT1372097	hsa-miR-4748	CLIP-seq
MIRT1372098	hsa-miR-4762-3p	CLIP-seq
MIRT1372099	hsa-miR-4764-5p	CLIP-seq
MIRT1372100	hsa-miR-4799-5p	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT1372102	hsa-miR-485-5p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372104	hsa-miR-515-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT1372107	hsa-miR-544b	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT1372109	hsa-miR-577	CLIP-seq
MIRT1372110	hsa-miR-601	CLIP-seq
MIRT1372111	hsa-miR-638	CLIP-seq
MIRT1372112	hsa-miR-760	CLIP-seq
MIRT1372113	hsa-miR-761	CLIP-seq
MIRT1372114	hsa-miR-769-3p	CLIP-seq
MIRT1372115	hsa-miR-873	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372118	hsa-miR-922	CLIP-seq
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT2110457	hsa-miR-1246	CLIP-seq
MIRT2110458	hsa-miR-1290	CLIP-seq
MIRT2110459	hsa-miR-1912	CLIP-seq
MIRT2110460	hsa-miR-3130-5p	CLIP-seq
MIRT2110461	hsa-miR-3134	CLIP-seq
MIRT2110462	hsa-miR-3167	CLIP-seq
MIRT1372073	hsa-miR-3920	CLIP-seq
MIRT1372082	hsa-miR-4464	CLIP-seq
MIRT2110463	hsa-miR-4482	CLIP-seq
MIRT1372097	hsa-miR-4748	CLIP-seq
MIRT1372098	hsa-miR-4762-3p	CLIP-seq
MIRT1372099	hsa-miR-4764-5p	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT2110464	hsa-miR-876-5p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT1372045	hsa-miR-135a	CLIP-seq
MIRT1372046	hsa-miR-135b	CLIP-seq
MIRT1372051	hsa-miR-3119	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372058	hsa-miR-320a	CLIP-seq
MIRT1372059	hsa-miR-320b	CLIP-seq
MIRT1372060	hsa-miR-320c	CLIP-seq
MIRT1372061	hsa-miR-320d	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372080	hsa-miR-4429	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT2333952	hsa-miR-4773	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT2628159	hsa-miR-298	CLIP-seq
MIRT2628160	hsa-miR-30a	CLIP-seq
MIRT2628161	hsa-miR-30b	CLIP-seq
MIRT2628162	hsa-miR-30c	CLIP-seq
MIRT2628163	hsa-miR-30d	CLIP-seq
MIRT2628164	hsa-miR-30e	CLIP-seq
MIRT2628165	hsa-miR-3121-5p	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2628166	hsa-miR-3591-3p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT2628167	hsa-miR-3653	CLIP-seq
MIRT2628168	hsa-miR-3658	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2628169	hsa-miR-3678-3p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT2628170	hsa-miR-374c	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372075	hsa-miR-3977	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372083	hsa-miR-4474-5p	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT1372094	hsa-miR-4719	CLIP-seq
MIRT2628171	hsa-miR-4731-3p	CLIP-seq
MIRT2628172	hsa-miR-4801	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT2628173	hsa-miR-485-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372104	hsa-miR-515-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT2628174	hsa-miR-548a-5p	CLIP-seq
MIRT2628175	hsa-miR-548aa	CLIP-seq
MIRT2628176	hsa-miR-548ab	CLIP-seq
MIRT2628177	hsa-miR-548ak	CLIP-seq
MIRT2628178	hsa-miR-548b-5p	CLIP-seq
MIRT2628179	hsa-miR-548c-5p	CLIP-seq
MIRT2628180	hsa-miR-548d-5p	CLIP-seq
MIRT2628181	hsa-miR-548h	CLIP-seq
MIRT2628182	hsa-miR-548i	CLIP-seq
MIRT2628183	hsa-miR-548j	CLIP-seq
MIRT2628184	hsa-miR-548n	CLIP-seq
MIRT2628185	hsa-miR-548t	CLIP-seq
MIRT2628186	hsa-miR-548w	CLIP-seq
MIRT2628187	hsa-miR-548y	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT2628188	hsa-miR-555	CLIP-seq
MIRT2628189	hsa-miR-559	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT2628190	hsa-miR-655	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT2628159	hsa-miR-298	CLIP-seq
MIRT2628160	hsa-miR-30a	CLIP-seq
MIRT2628161	hsa-miR-30b	CLIP-seq
MIRT2628162	hsa-miR-30c	CLIP-seq
MIRT2628163	hsa-miR-30d	CLIP-seq
MIRT2628164	hsa-miR-30e	CLIP-seq
MIRT2628165	hsa-miR-3121-5p	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2628166	hsa-miR-3591-3p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT2628167	hsa-miR-3653	CLIP-seq
MIRT2628168	hsa-miR-3658	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2628169	hsa-miR-3678-3p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT2628170	hsa-miR-374c	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT2628171	hsa-miR-4731-3p	CLIP-seq
MIRT2628172	hsa-miR-4801	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT2628173	hsa-miR-485-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT2628174	hsa-miR-548a-5p	CLIP-seq
MIRT2628175	hsa-miR-548aa	CLIP-seq
MIRT2628176	hsa-miR-548ab	CLIP-seq
MIRT2628177	hsa-miR-548ak	CLIP-seq
MIRT2628178	hsa-miR-548b-5p	CLIP-seq
MIRT2628179	hsa-miR-548c-5p	CLIP-seq
MIRT2628180	hsa-miR-548d-5p	CLIP-seq
MIRT2628181	hsa-miR-548h	CLIP-seq
MIRT2628182	hsa-miR-548i	CLIP-seq
MIRT2628183	hsa-miR-548j	CLIP-seq
MIRT2628184	hsa-miR-548n	CLIP-seq
MIRT2628185	hsa-miR-548t	CLIP-seq
MIRT2628186	hsa-miR-548w	CLIP-seq
MIRT2628187	hsa-miR-548y	CLIP-seq
MIRT2628188	hsa-miR-555	CLIP-seq
MIRT2628189	hsa-miR-559	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT2628190	hsa-miR-655	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	TAS	9435219
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	TAS	9435219
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0003713	Function	Transcription coactivator activity	TAS	9435219
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12192000, 12917342, 15985610, 16051670, 16919237, 17363140, 21516116, 24981860, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006337	Process	Nucleosome disassembly	TAS	9435219
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9435219
GO:0007399	Process	Nervous system development	IEA
GO:0008080	Function	N-acetyltransferase activity	IDA	12192000
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 11078522
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0016922	Function	Nuclear receptor binding	IPI	17363140
GO:0022008	Process	Neurogenesis	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12192000
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	IEA
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	IEA
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 603111
• HGNC: 11109
• e!Ensembl: ENSG00000073584

Protein

• UniProt ID: Q969G3
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 (BRG1-associated factor 57) (BAF57)
• Protein function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati
• PDB: 6LTH, 6LTJ, 7CYU, 7VDV, 7Y8R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	66 → 134	HMG (high mobility group) box	Domain

• Sequence:

  MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIP
  KPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYE
  AEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPD
  DYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
  LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQ
  EEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEG
  TSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE

• Sequence length: 411

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Coffin-Siris syndrome 5	Pathogenic; Likely pathogenic	rs797045990, rs387906857, rs1555605795, rs1426841589	RCV005600804 RCV000211089 RCV000023251 RCV000677665 RCV000824687	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial meningioma	Likely pathogenic; Pathogenic	rs2143988221, rs2143988635, rs2143997220, rs1251821702, rs2037146593, rs2143985266, rs2143996133, rs2143988272, rs2143986851, rs2144009190, rs2143997316, rs2143996366, rs2143988301, rs2508598549, rs2508598327, rs797045990, rs2143997384, rs878854603, rs2508598492, rs2508598488, rs2508603561, rs1026195254, rs2508603823, rs2143986835, rs2508604668, rs1057518166, rs387906857, rs1060501395, rs1555605347, rs1555605750, rs397509405, rs2037146907, rs2037087179, rs2037146773	RCV001378606 RCV001378947 RCV001378840 RCV001381755 RCV002027877 RCV002042424 RCV001926765 RCV001984921 RCV001936109 RCV001982899 RCV001983042 RCV003126244 RCV003526157 RCV003526149 RCV002466948 RCV000194068 RCV003025897 RCV000231727 RCV003447701 RCV003447716 RCV003525758 RCV003639474 RCV003640292 RCV003837972 RCV005100440 RCV001389940 RCV000193407 RCV000466082 RCV000532842 RCV000638929 RCV000049253 RCV001068256 RCV003526033 RCV001230520 RCV001226002	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs1251821702, rs2143996133, rs2143997316, rs2143996366, rs2508603762, rs2143988301, rs2508598549, rs2143986798, rs2508604717, rs2508597255, rs2508595907, rs2508604703, rs2508604668, rs1057518166, rs1555605752, rs397509405	RCV004037651 RCV005278974 RCV002324410 RCV002333702 RCV002323481 RCV002377938 RCV002351922 RCV002421434 RCV003310807 RCV003310816 RCV003382145 RCV003382146 RCV004508449 RCV005492822 RCV000568108 RCV003162427	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma non-WNT/non-SHH group 3	Pathogenic	rs2143997365	RCV006254278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tessier cleft	Pathogenic	rs2143997365	RCV001526653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT FACE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME	—	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL MULTIPLE MENINGIOMA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Benign; Likely benign; -	ClinVar CTD, Orphanet CTD, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MENINGIOMA, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid tumor predisposition syndrome 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMARCB1-related schwannomatosis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMARCE1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	30499906		★☆☆☆☆ Found in Text Mining only
Angiomatous Meningioma	Angiomatous Meningioma	BEFREE	31589317		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29978433		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16135788, 16538531, 21465167, 27495308		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16538531, 16769725, 18332872	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16135788	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28740345	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31611549	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25656847		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear Cell Meningioma	Meningioma	BEFREE	25143307, 25249420, 26114992, 27891692, 28474749		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	CTD_human_DG	22426308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	23637025, 23929686, 27149204, 27264197, 30499906, 30548424, 31675646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Coffin-Siris Syndrome	ORPHANET_DG	23906836, 23929686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME 5	Coffin-Siris Syndrome	UNIPROT_DG	22426308, 23906836		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COFFIN-SIRIS SYNDROME 5	Coffin-Siris Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	30337622		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22403184	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	16538531		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25611552		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25611552	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	16135788	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial meningioma	Meningioma	CTD_human_DG	23377182		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial multiple meningioma	Multiple Meningioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	35044082	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25168959, 31273213		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liver carcinoma	Liver carcinoma	BEFREE	28740345, 31611549		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28740345		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23493350	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25656847	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	30548424	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16538531, 21465167, 27495308		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25656847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18559499, 23493350		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31118775		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25169151, 27149204, 31118775		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16769725		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21465167, 27495308		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	BEFREE	25249420, 25857641, 26803492, 27891692, 28474749, 31589317		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	Pubtator	28474749	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	Pubtator	28759666, 29409008, 33319313, 37164167	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	CGI_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningiomas, Multiple	Meningioma	BEFREE	29409008		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12	Mental retardation	GENOMICS_ENGLAND_DG	22426308		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23493350		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16135788, 18559499, 23493350, 25656847, 26114992, 26803492, 27495308, 28474749, 28716547, 30499906, 31118775		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	29409008		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25656847		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28377514		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24880093		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25611552	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	22403184	Associate	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18559499, 23493350		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23493350	Stimulate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	BEFREE	29397238		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	BEFREE	23377182, 25143307		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31118775		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36916408	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	31675646		★☆☆☆☆ Found in Text Mining only