BRWD3 (bromodomain and WD repeat domain containing 3)

Gene

• Entrez ID: 254065
• Gene name: Bromodomain and WD repeat domain containing 3
• Gene symbol: BRWD3
• Synonyms (NCBI Gene): BRODL, DCAF20, MRX93, XLID93
• Chromosome: X
• Chromosome location: Xq21.1
• Summary: The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilitie

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853272	T>C,G	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs138240307	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs730882185	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs730882186	->T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs758800773	T>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs863224851	A>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs878853055	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1057518202	->TATT	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs1057518650	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1569242657	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs1569245569	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569290395	C>T	Likely-pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602308324	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602311804	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602352162	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043868	hsa-miR-378a-3p	CLASH	23622248
MIRT559168	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT559167	hsa-miR-567	PAR-CLIP	20371350
MIRT494475	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT559165	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569265	hsa-miR-8068	PAR-CLIP	20371350
MIRT559163	hsa-miR-297	PAR-CLIP	20371350
MIRT569264	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569263	hsa-miR-147a	PAR-CLIP	20371350
MIRT379790	hsa-miR-5010-3p	PAR-CLIP	20371350
MIRT559164	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT559168	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT559167	hsa-miR-567	PAR-CLIP	21572407
MIRT559166	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT559165	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT559163	hsa-miR-297	PAR-CLIP	21572407
MIRT559164	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT538887	hsa-miR-4704-5p	PAR-CLIP	22012620
MIRT538886	hsa-miR-216b-3p	PAR-CLIP	22012620
MIRT538885	hsa-miR-377-3p	PAR-CLIP	22012620
MIRT494487	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT494486	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT494485	hsa-miR-22-3p	PAR-CLIP	23592263
MIRT394462	hsa-miR-548at-5p	PAR-CLIP	23592263
MIRT494484	hsa-miR-3159	PAR-CLIP	23592263
MIRT494483	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT494482	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT494481	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT494480	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT494479	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT494478	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT494477	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT494476	hsa-miR-6882-3p	PAR-CLIP	23592263
MIRT494475	hsa-miR-223-5p	PAR-CLIP	23592263
MIRT494474	hsa-miR-556-3p	PAR-CLIP	23592263
MIRT494473	hsa-miR-4795-3p	PAR-CLIP	23592263
MIRT494472	hsa-miR-548aw	PAR-CLIP	23592263
MIRT494471	hsa-miR-651-5p	PAR-CLIP	23592263
MIRT736878	hsa-miR-221-3p	Luciferase reporter assay, Western blotting, Microarray, RNA-seq, qRT-PCR, Flow cytometry	32188026
MIRT559168	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT559167	hsa-miR-567	PAR-CLIP	20371350
MIRT494475	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT559165	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569265	hsa-miR-8068	PAR-CLIP	20371350
MIRT559163	hsa-miR-297	PAR-CLIP	20371350
MIRT569264	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569263	hsa-miR-147a	PAR-CLIP	20371350
MIRT379790	hsa-miR-5010-3p	PAR-CLIP	20371350
MIRT559164	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT559168	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT559167	hsa-miR-567	PAR-CLIP	21572407
MIRT559166	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT559165	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT559163	hsa-miR-297	PAR-CLIP	21572407
MIRT559164	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT538887	hsa-miR-4704-5p	PAR-CLIP	22012620
MIRT538886	hsa-miR-216b-3p	PAR-CLIP	22012620
MIRT538885	hsa-miR-377-3p	PAR-CLIP	22012620
MIRT494487	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT494486	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT494485	hsa-miR-22-3p	PAR-CLIP	23592263
MIRT394462	hsa-miR-548at-5p	PAR-CLIP	23592263
MIRT494484	hsa-miR-3159	PAR-CLIP	23592263
MIRT494483	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT494482	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT494481	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT494480	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT494479	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT494478	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT494477	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT494476	hsa-miR-6882-3p	PAR-CLIP	23592263
MIRT494475	hsa-miR-223-5p	PAR-CLIP	23592263
MIRT494474	hsa-miR-556-3p	PAR-CLIP	23592263
MIRT494473	hsa-miR-4795-3p	PAR-CLIP	23592263
MIRT494472	hsa-miR-548aw	PAR-CLIP	23592263
MIRT494471	hsa-miR-651-5p	PAR-CLIP	23592263
MIRT825797	hsa-let-7a	CLIP-seq
MIRT825798	hsa-let-7b	CLIP-seq
MIRT825799	hsa-let-7c	CLIP-seq
MIRT825800	hsa-let-7d	CLIP-seq
MIRT825801	hsa-let-7e	CLIP-seq
MIRT825802	hsa-let-7f	CLIP-seq
MIRT825803	hsa-let-7g	CLIP-seq
MIRT825804	hsa-let-7i	CLIP-seq
MIRT825805	hsa-miR-106a	CLIP-seq
MIRT825806	hsa-miR-106b	CLIP-seq
MIRT825807	hsa-miR-1183	CLIP-seq
MIRT825808	hsa-miR-1184	CLIP-seq
MIRT825809	hsa-miR-1244	CLIP-seq
MIRT825810	hsa-miR-1252	CLIP-seq
MIRT825811	hsa-miR-1278	CLIP-seq
MIRT825812	hsa-miR-128	CLIP-seq
MIRT825813	hsa-miR-1295	CLIP-seq
MIRT825814	hsa-miR-1297	CLIP-seq
MIRT825815	hsa-miR-1321	CLIP-seq
MIRT825816	hsa-miR-1343	CLIP-seq
MIRT825817	hsa-miR-144	CLIP-seq
MIRT825818	hsa-miR-145	CLIP-seq
MIRT825819	hsa-miR-17	CLIP-seq
MIRT825820	hsa-miR-199a-3p	CLIP-seq
MIRT825821	hsa-miR-199b-3p	CLIP-seq
MIRT825822	hsa-miR-19a	CLIP-seq
MIRT825823	hsa-miR-19b	CLIP-seq
MIRT825824	hsa-miR-200b	CLIP-seq
MIRT825825	hsa-miR-200c	CLIP-seq
MIRT825826	hsa-miR-2053	CLIP-seq
MIRT825827	hsa-miR-20a	CLIP-seq
MIRT825828	hsa-miR-20b	CLIP-seq
MIRT825829	hsa-miR-216b	CLIP-seq
MIRT825830	hsa-miR-23a	CLIP-seq
MIRT825831	hsa-miR-23b	CLIP-seq
MIRT825832	hsa-miR-23c	CLIP-seq
MIRT825833	hsa-miR-24	CLIP-seq
MIRT825834	hsa-miR-26a	CLIP-seq
MIRT825835	hsa-miR-26b	CLIP-seq
MIRT825836	hsa-miR-27a	CLIP-seq
MIRT825837	hsa-miR-27b	CLIP-seq
MIRT825838	hsa-miR-298	CLIP-seq
MIRT825839	hsa-miR-299-5p	CLIP-seq
MIRT825840	hsa-miR-29a	CLIP-seq
MIRT825841	hsa-miR-29b	CLIP-seq
MIRT825842	hsa-miR-29c	CLIP-seq
MIRT825843	hsa-miR-3065-5p	CLIP-seq
MIRT825844	hsa-miR-30a	CLIP-seq
MIRT825845	hsa-miR-30b	CLIP-seq
MIRT825846	hsa-miR-30c	CLIP-seq
MIRT825847	hsa-miR-30d	CLIP-seq
MIRT825848	hsa-miR-30e	CLIP-seq
MIRT825849	hsa-miR-3119	CLIP-seq
MIRT825850	hsa-miR-3129-5p	CLIP-seq
MIRT825851	hsa-miR-3163	CLIP-seq
MIRT825852	hsa-miR-3173-3p	CLIP-seq
MIRT825853	hsa-miR-3180-5p	CLIP-seq
MIRT825854	hsa-miR-3182	CLIP-seq
MIRT825855	hsa-miR-320a	CLIP-seq
MIRT825856	hsa-miR-320b	CLIP-seq
MIRT825857	hsa-miR-320c	CLIP-seq
MIRT825858	hsa-miR-320d	CLIP-seq
MIRT825859	hsa-miR-320e	CLIP-seq
MIRT825860	hsa-miR-323-3p	CLIP-seq
MIRT825861	hsa-miR-340	CLIP-seq
MIRT825862	hsa-miR-342-3p	CLIP-seq
MIRT825863	hsa-miR-3545-3p	CLIP-seq
MIRT825864	hsa-miR-3609	CLIP-seq
MIRT825865	hsa-miR-3613-3p	CLIP-seq
MIRT825866	hsa-miR-3617	CLIP-seq
MIRT825867	hsa-miR-3622b-5p	CLIP-seq
MIRT825868	hsa-miR-3658	CLIP-seq
MIRT825869	hsa-miR-3663-5p	CLIP-seq
MIRT825870	hsa-miR-3674	CLIP-seq
MIRT825871	hsa-miR-3675-3p	CLIP-seq
MIRT825872	hsa-miR-3682-5p	CLIP-seq
MIRT825873	hsa-miR-3689a-5p	CLIP-seq
MIRT825874	hsa-miR-3689b	CLIP-seq
MIRT825875	hsa-miR-3689e	CLIP-seq
MIRT825876	hsa-miR-3689f	CLIP-seq
MIRT825877	hsa-miR-374c	CLIP-seq
MIRT825878	hsa-miR-382	CLIP-seq
MIRT825879	hsa-miR-3915	CLIP-seq
MIRT825880	hsa-miR-3928	CLIP-seq
MIRT825881	hsa-miR-3945	CLIP-seq
MIRT825882	hsa-miR-3973	CLIP-seq
MIRT825883	hsa-miR-4253	CLIP-seq
MIRT825884	hsa-miR-4269	CLIP-seq
MIRT825885	hsa-miR-4282	CLIP-seq
MIRT825886	hsa-miR-4284	CLIP-seq
MIRT825887	hsa-miR-429	CLIP-seq
MIRT825888	hsa-miR-4307	CLIP-seq
MIRT825889	hsa-miR-4318	CLIP-seq
MIRT825890	hsa-miR-4328	CLIP-seq
MIRT825891	hsa-miR-4418	CLIP-seq
MIRT825892	hsa-miR-4419a	CLIP-seq
MIRT825893	hsa-miR-4422	CLIP-seq
MIRT825894	hsa-miR-4424	CLIP-seq
MIRT825895	hsa-miR-4427	CLIP-seq
MIRT825896	hsa-miR-4429	CLIP-seq
MIRT825897	hsa-miR-4438	CLIP-seq
MIRT825898	hsa-miR-4458	CLIP-seq
MIRT825899	hsa-miR-4465	CLIP-seq
MIRT825900	hsa-miR-4476	CLIP-seq
MIRT825901	hsa-miR-4500	CLIP-seq
MIRT825902	hsa-miR-4509	CLIP-seq
MIRT825903	hsa-miR-4510	CLIP-seq
MIRT825904	hsa-miR-452	CLIP-seq
MIRT825905	hsa-miR-4533	CLIP-seq
MIRT825906	hsa-miR-4635	CLIP-seq
MIRT825907	hsa-miR-4646-5p	CLIP-seq
MIRT825908	hsa-miR-4659a-3p	CLIP-seq
MIRT825909	hsa-miR-4659b-3p	CLIP-seq
MIRT825910	hsa-miR-4663	CLIP-seq
MIRT825911	hsa-miR-4676-3p	CLIP-seq
MIRT825912	hsa-miR-4676-5p	CLIP-seq
MIRT825913	hsa-miR-4677-3p	CLIP-seq
MIRT825914	hsa-miR-4679	CLIP-seq
MIRT825915	hsa-miR-4680-3p	CLIP-seq
MIRT825916	hsa-miR-4680-5p	CLIP-seq
MIRT825917	hsa-miR-4682	CLIP-seq
MIRT825918	hsa-miR-4687-3p	CLIP-seq
MIRT825919	hsa-miR-4693-5p	CLIP-seq
MIRT825920	hsa-miR-4703-3p	CLIP-seq
MIRT825921	hsa-miR-4710	CLIP-seq
MIRT825922	hsa-miR-4712-5p	CLIP-seq
MIRT825923	hsa-miR-4723-5p	CLIP-seq
MIRT825924	hsa-miR-4724-3p	CLIP-seq
MIRT825925	hsa-miR-4728-3p	CLIP-seq
MIRT825926	hsa-miR-4728-5p	CLIP-seq
MIRT825927	hsa-miR-4739	CLIP-seq
MIRT825928	hsa-miR-4744	CLIP-seq
MIRT825929	hsa-miR-4747-5p	CLIP-seq
MIRT825930	hsa-miR-4756-5p	CLIP-seq
MIRT825931	hsa-miR-4775	CLIP-seq
MIRT825932	hsa-miR-4777-3p	CLIP-seq
MIRT825933	hsa-miR-4777-5p	CLIP-seq
MIRT825934	hsa-miR-4779	CLIP-seq
MIRT825935	hsa-miR-4796-3p	CLIP-seq
MIRT825936	hsa-miR-488	CLIP-seq
MIRT825937	hsa-miR-491-3p	CLIP-seq
MIRT825938	hsa-miR-505	CLIP-seq
MIRT825939	hsa-miR-509-3-5p	CLIP-seq
MIRT825940	hsa-miR-5095	CLIP-seq
MIRT825941	hsa-miR-509-5p	CLIP-seq
MIRT825942	hsa-miR-5096	CLIP-seq
MIRT825943	hsa-miR-513a-3p	CLIP-seq
MIRT825944	hsa-miR-513a-5p	CLIP-seq
MIRT825945	hsa-miR-518d-5p	CLIP-seq
MIRT825946	hsa-miR-519b-5p	CLIP-seq
MIRT825947	hsa-miR-519c-5p	CLIP-seq
MIRT825948	hsa-miR-519d	CLIP-seq
MIRT825949	hsa-miR-520c-5p	CLIP-seq
MIRT825950	hsa-miR-520g	CLIP-seq
MIRT825951	hsa-miR-520h	CLIP-seq
MIRT825952	hsa-miR-526a	CLIP-seq
MIRT825953	hsa-miR-548ah	CLIP-seq
MIRT825954	hsa-miR-564	CLIP-seq
MIRT825955	hsa-miR-569	CLIP-seq
MIRT825956	hsa-miR-575	CLIP-seq
MIRT825957	hsa-miR-577	CLIP-seq
MIRT825958	hsa-miR-584	CLIP-seq
MIRT825959	hsa-miR-590-3p	CLIP-seq
MIRT825960	hsa-miR-600	CLIP-seq
MIRT825961	hsa-miR-610	CLIP-seq
MIRT825962	hsa-miR-630	CLIP-seq
MIRT825963	hsa-miR-641	CLIP-seq
MIRT825964	hsa-miR-655	CLIP-seq
MIRT825965	hsa-miR-656	CLIP-seq
MIRT825966	hsa-miR-767-5p	CLIP-seq
MIRT825967	hsa-miR-770-5p	CLIP-seq
MIRT825968	hsa-miR-875-5p	CLIP-seq
MIRT825969	hsa-miR-885-3p	CLIP-seq
MIRT825970	hsa-miR-892a	CLIP-seq
MIRT825971	hsa-miR-93	CLIP-seq
MIRT825972	hsa-miR-98	CLIP-seq
MIRT1922613	hsa-miR-532-3p	CLIP-seq
MIRT825808	hsa-miR-1184	CLIP-seq
MIRT1944129	hsa-miR-122	CLIP-seq
MIRT1944130	hsa-miR-124	CLIP-seq
MIRT825809	hsa-miR-1244	CLIP-seq
MIRT825813	hsa-miR-1295	CLIP-seq
MIRT825816	hsa-miR-1343	CLIP-seq
MIRT1944131	hsa-miR-181a	CLIP-seq
MIRT1944132	hsa-miR-181b	CLIP-seq
MIRT1944133	hsa-miR-181c	CLIP-seq
MIRT1944134	hsa-miR-181d	CLIP-seq
MIRT1944135	hsa-miR-188-5p	CLIP-seq
MIRT1944136	hsa-miR-192	CLIP-seq
MIRT825826	hsa-miR-2053	CLIP-seq
MIRT1944137	hsa-miR-21	CLIP-seq
MIRT1944138	hsa-miR-215	CLIP-seq
MIRT1944139	hsa-miR-221	CLIP-seq
MIRT1944140	hsa-miR-222	CLIP-seq
MIRT1944141	hsa-miR-2355-5p	CLIP-seq
MIRT825833	hsa-miR-24	CLIP-seq
MIRT825836	hsa-miR-27a	CLIP-seq
MIRT825837	hsa-miR-27b	CLIP-seq
MIRT825840	hsa-miR-29a	CLIP-seq
MIRT825841	hsa-miR-29b	CLIP-seq
MIRT825842	hsa-miR-29c	CLIP-seq
MIRT1944142	hsa-miR-302f	CLIP-seq
MIRT825844	hsa-miR-30a	CLIP-seq
MIRT825845	hsa-miR-30b	CLIP-seq
MIRT825846	hsa-miR-30c	CLIP-seq
MIRT825847	hsa-miR-30d	CLIP-seq
MIRT825848	hsa-miR-30e	CLIP-seq
MIRT1944143	hsa-miR-3135b	CLIP-seq
MIRT1944144	hsa-miR-3156-5p	CLIP-seq
MIRT825855	hsa-miR-320a	CLIP-seq
MIRT825856	hsa-miR-320b	CLIP-seq
MIRT825857	hsa-miR-320c	CLIP-seq
MIRT825858	hsa-miR-320d	CLIP-seq
MIRT825859	hsa-miR-320e	CLIP-seq
MIRT1944145	hsa-miR-329	CLIP-seq
MIRT825867	hsa-miR-3622b-5p	CLIP-seq
MIRT1944146	hsa-miR-362-3p	CLIP-seq
MIRT1944147	hsa-miR-3647-3p	CLIP-seq
MIRT1944148	hsa-miR-3652	CLIP-seq
MIRT1944149	hsa-miR-3653	CLIP-seq
MIRT825868	hsa-miR-3658	CLIP-seq
MIRT1944150	hsa-miR-3662	CLIP-seq
MIRT825870	hsa-miR-3674	CLIP-seq
MIRT1944151	hsa-miR-3688-3p	CLIP-seq
MIRT1944152	hsa-miR-3689d	CLIP-seq
MIRT825882	hsa-miR-3973	CLIP-seq
MIRT1944153	hsa-miR-4262	CLIP-seq
MIRT825886	hsa-miR-4284	CLIP-seq
MIRT825891	hsa-miR-4418	CLIP-seq
MIRT825896	hsa-miR-4429	CLIP-seq
MIRT1944154	hsa-miR-4430	CLIP-seq
MIRT1944155	hsa-miR-4459	CLIP-seq
MIRT1944156	hsa-miR-4468	CLIP-seq
MIRT1944157	hsa-miR-4490	CLIP-seq
MIRT825907	hsa-miR-4646-5p	CLIP-seq
MIRT825908	hsa-miR-4659a-3p	CLIP-seq
MIRT825909	hsa-miR-4659b-3p	CLIP-seq
MIRT1944158	hsa-miR-4666-3p	CLIP-seq
MIRT1944159	hsa-miR-4666-5p	CLIP-seq
MIRT1944160	hsa-miR-4686	CLIP-seq
MIRT1944161	hsa-miR-4694-3p	CLIP-seq
MIRT1944162	hsa-miR-4699-3p	CLIP-seq
MIRT825920	hsa-miR-4703-3p	CLIP-seq
MIRT825926	hsa-miR-4728-5p	CLIP-seq
MIRT1944163	hsa-miR-4729	CLIP-seq
MIRT825931	hsa-miR-4775	CLIP-seq
MIRT825932	hsa-miR-4777-3p	CLIP-seq
MIRT1944164	hsa-miR-506	CLIP-seq
MIRT825939	hsa-miR-509-3-5p	CLIP-seq
MIRT825941	hsa-miR-509-5p	CLIP-seq
MIRT825942	hsa-miR-5096	CLIP-seq
MIRT825944	hsa-miR-513a-5p	CLIP-seq
MIRT1944165	hsa-miR-520d-5p	CLIP-seq
MIRT825950	hsa-miR-520g	CLIP-seq
MIRT825951	hsa-miR-520h	CLIP-seq
MIRT1944166	hsa-miR-522	CLIP-seq
MIRT1944167	hsa-miR-524-5p	CLIP-seq
MIRT1944168	hsa-miR-548l	CLIP-seq
MIRT1944169	hsa-miR-548v	CLIP-seq
MIRT1944170	hsa-miR-561	CLIP-seq
MIRT825954	hsa-miR-564	CLIP-seq
MIRT825955	hsa-miR-569	CLIP-seq
MIRT825959	hsa-miR-590-3p	CLIP-seq
MIRT1944171	hsa-miR-590-5p	CLIP-seq
MIRT1944172	hsa-miR-624	CLIP-seq
MIRT1944173	hsa-miR-628-5p	CLIP-seq
MIRT1944174	hsa-miR-661	CLIP-seq
MIRT1944175	hsa-miR-664	CLIP-seq
MIRT825797	hsa-let-7a	CLIP-seq
MIRT825798	hsa-let-7b	CLIP-seq
MIRT825799	hsa-let-7c	CLIP-seq
MIRT825800	hsa-let-7d	CLIP-seq
MIRT825801	hsa-let-7e	CLIP-seq
MIRT825802	hsa-let-7f	CLIP-seq
MIRT825803	hsa-let-7g	CLIP-seq
MIRT825804	hsa-let-7i	CLIP-seq
MIRT825808	hsa-miR-1184	CLIP-seq
MIRT2182683	hsa-miR-1207-3p	CLIP-seq
MIRT2182684	hsa-miR-1208	CLIP-seq
MIRT1944129	hsa-miR-122	CLIP-seq
MIRT2182685	hsa-miR-1229	CLIP-seq
MIRT825809	hsa-miR-1244	CLIP-seq
MIRT2182686	hsa-miR-1254	CLIP-seq
MIRT825812	hsa-miR-128	CLIP-seq
MIRT825816	hsa-miR-1343	CLIP-seq
MIRT825817	hsa-miR-144	CLIP-seq
MIRT1944131	hsa-miR-181a	CLIP-seq
MIRT1944132	hsa-miR-181b	CLIP-seq
MIRT1944133	hsa-miR-181c	CLIP-seq
MIRT1944134	hsa-miR-181d	CLIP-seq
MIRT1944136	hsa-miR-192	CLIP-seq
MIRT825826	hsa-miR-2053	CLIP-seq
MIRT1944138	hsa-miR-215	CLIP-seq
MIRT2182687	hsa-miR-22	CLIP-seq
MIRT1944141	hsa-miR-2355-5p	CLIP-seq
MIRT825836	hsa-miR-27a	CLIP-seq
MIRT825837	hsa-miR-27b	CLIP-seq
MIRT2182688	hsa-miR-3074-5p	CLIP-seq
MIRT825844	hsa-miR-30a	CLIP-seq
MIRT825845	hsa-miR-30b	CLIP-seq
MIRT825846	hsa-miR-30c	CLIP-seq
MIRT825847	hsa-miR-30d	CLIP-seq
MIRT825848	hsa-miR-30e	CLIP-seq
MIRT2182689	hsa-miR-3116	CLIP-seq
MIRT1944143	hsa-miR-3135b	CLIP-seq
MIRT2182690	hsa-miR-3154	CLIP-seq
MIRT2182691	hsa-miR-3176	CLIP-seq
MIRT2182692	hsa-miR-338-5p	CLIP-seq
MIRT2182693	hsa-miR-3607-3p	CLIP-seq
MIRT825867	hsa-miR-3622b-5p	CLIP-seq
MIRT1944148	hsa-miR-3652	CLIP-seq
MIRT1944150	hsa-miR-3662	CLIP-seq
MIRT825870	hsa-miR-3674	CLIP-seq
MIRT2182694	hsa-miR-3692	CLIP-seq
MIRT2182695	hsa-miR-3922-3p	CLIP-seq
MIRT2182696	hsa-miR-3935	CLIP-seq
MIRT2182697	hsa-miR-3938	CLIP-seq
MIRT1944153	hsa-miR-4262	CLIP-seq
MIRT2182698	hsa-miR-4277	CLIP-seq
MIRT2182699	hsa-miR-4293	CLIP-seq
MIRT825891	hsa-miR-4418	CLIP-seq
MIRT825893	hsa-miR-4422	CLIP-seq
MIRT1944154	hsa-miR-4430	CLIP-seq
MIRT2182700	hsa-miR-4452	CLIP-seq
MIRT825898	hsa-miR-4458	CLIP-seq
MIRT2182701	hsa-miR-4464	CLIP-seq
MIRT1944157	hsa-miR-4490	CLIP-seq
MIRT2182702	hsa-miR-4493	CLIP-seq
MIRT825901	hsa-miR-4500	CLIP-seq
MIRT2182703	hsa-miR-4512	CLIP-seq
MIRT825908	hsa-miR-4659a-3p	CLIP-seq
MIRT825909	hsa-miR-4659b-3p	CLIP-seq
MIRT1944159	hsa-miR-4666-5p	CLIP-seq
MIRT2182704	hsa-miR-4698	CLIP-seq
MIRT825920	hsa-miR-4703-3p	CLIP-seq
MIRT2182705	hsa-miR-4738-3p	CLIP-seq
MIRT2182706	hsa-miR-4748	CLIP-seq
MIRT2182707	hsa-miR-4753-5p	CLIP-seq
MIRT2182708	hsa-miR-4768-5p	CLIP-seq
MIRT2182709	hsa-miR-4789-5p	CLIP-seq
MIRT825939	hsa-miR-509-3-5p	CLIP-seq
MIRT825941	hsa-miR-509-5p	CLIP-seq
MIRT825942	hsa-miR-5096	CLIP-seq
MIRT825944	hsa-miR-513a-5p	CLIP-seq
MIRT2182710	hsa-miR-548c-3p	CLIP-seq
MIRT2182711	hsa-miR-548g	CLIP-seq
MIRT2182712	hsa-miR-548n	CLIP-seq
MIRT2182713	hsa-miR-548t	CLIP-seq
MIRT2182714	hsa-miR-550a	CLIP-seq
MIRT825959	hsa-miR-590-3p	CLIP-seq
MIRT825960	hsa-miR-600	CLIP-seq
MIRT2182715	hsa-miR-633	CLIP-seq
MIRT2182716	hsa-miR-651	CLIP-seq
MIRT1944174	hsa-miR-661	CLIP-seq
MIRT1944175	hsa-miR-664	CLIP-seq
MIRT2182717	hsa-miR-670	CLIP-seq
MIRT2182718	hsa-miR-764	CLIP-seq
MIRT825966	hsa-miR-767-5p	CLIP-seq
MIRT2182719	hsa-miR-936	CLIP-seq
MIRT825972	hsa-miR-98	CLIP-seq
MIRT1944129	hsa-miR-122	CLIP-seq
MIRT1944130	hsa-miR-124	CLIP-seq
MIRT1944141	hsa-miR-2355-5p	CLIP-seq
MIRT1944143	hsa-miR-3135b	CLIP-seq
MIRT1944144	hsa-miR-3156-5p	CLIP-seq
MIRT1944145	hsa-miR-329	CLIP-seq
MIRT825867	hsa-miR-3622b-5p	CLIP-seq
MIRT1944146	hsa-miR-362-3p	CLIP-seq
MIRT1944148	hsa-miR-3652	CLIP-seq
MIRT1944154	hsa-miR-4430	CLIP-seq
MIRT1944157	hsa-miR-4490	CLIP-seq
MIRT825920	hsa-miR-4703-3p	CLIP-seq
MIRT1944164	hsa-miR-506	CLIP-seq
MIRT1944170	hsa-miR-561	CLIP-seq
MIRT2426669	hsa-miR-3941	CLIP-seq
MIRT2426670	hsa-miR-466	CLIP-seq
MIRT2426671	hsa-miR-4672	CLIP-seq
MIRT2426672	hsa-miR-548p	CLIP-seq
MIRT825814	hsa-miR-1297	CLIP-seq
MIRT2435818	hsa-miR-142-5p	CLIP-seq
MIRT825834	hsa-miR-26a	CLIP-seq
MIRT825835	hsa-miR-26b	CLIP-seq
MIRT1944144	hsa-miR-3156-5p	CLIP-seq
MIRT1944145	hsa-miR-329	CLIP-seq
MIRT1944146	hsa-miR-362-3p	CLIP-seq
MIRT825899	hsa-miR-4465	CLIP-seq
MIRT825932	hsa-miR-4777-3p	CLIP-seq
MIRT1944170	hsa-miR-561	CLIP-seq
MIRT825962	hsa-miR-630	CLIP-seq
MIRT825968	hsa-miR-875-5p	CLIP-seq
MIRT2444906	hsa-miR-105	CLIP-seq
MIRT825807	hsa-miR-1183	CLIP-seq
MIRT2444907	hsa-miR-4766-3p	CLIP-seq
MIRT2182710	hsa-miR-548c-3p	CLIP-seq
MIRT2426672	hsa-miR-548p	CLIP-seq
MIRT2444906	hsa-miR-105	CLIP-seq
MIRT825808	hsa-miR-1184	CLIP-seq
MIRT1944129	hsa-miR-122	CLIP-seq
MIRT2486299	hsa-miR-1246	CLIP-seq
MIRT1944136	hsa-miR-192	CLIP-seq
MIRT1944138	hsa-miR-215	CLIP-seq
MIRT1944141	hsa-miR-2355-5p	CLIP-seq
MIRT2486300	hsa-miR-3122	CLIP-seq
MIRT1944143	hsa-miR-3135b	CLIP-seq
MIRT825867	hsa-miR-3622b-5p	CLIP-seq
MIRT1944148	hsa-miR-3652	CLIP-seq
MIRT1944150	hsa-miR-3662	CLIP-seq
MIRT2486301	hsa-miR-3689a-3p	CLIP-seq
MIRT2486302	hsa-miR-3689c	CLIP-seq
MIRT2486303	hsa-miR-3913-5p	CLIP-seq
MIRT825891	hsa-miR-4418	CLIP-seq
MIRT1944154	hsa-miR-4430	CLIP-seq
MIRT825900	hsa-miR-4476	CLIP-seq
MIRT825926	hsa-miR-4728-5p	CLIP-seq
MIRT2444907	hsa-miR-4766-3p	CLIP-seq
MIRT825939	hsa-miR-509-3-5p	CLIP-seq
MIRT825941	hsa-miR-509-5p	CLIP-seq
MIRT2182710	hsa-miR-548c-3p	CLIP-seq
MIRT2426672	hsa-miR-548p	CLIP-seq
MIRT2486304	hsa-miR-587	CLIP-seq
MIRT2444906	hsa-miR-105	CLIP-seq
MIRT825808	hsa-miR-1184	CLIP-seq
MIRT1944129	hsa-miR-122	CLIP-seq
MIRT2486299	hsa-miR-1246	CLIP-seq
MIRT1944136	hsa-miR-192	CLIP-seq
MIRT1944138	hsa-miR-215	CLIP-seq
MIRT1944141	hsa-miR-2355-5p	CLIP-seq
MIRT1944143	hsa-miR-3135b	CLIP-seq
MIRT825867	hsa-miR-3622b-5p	CLIP-seq
MIRT1944148	hsa-miR-3652	CLIP-seq
MIRT1944150	hsa-miR-3662	CLIP-seq
MIRT825891	hsa-miR-4418	CLIP-seq
MIRT1944154	hsa-miR-4430	CLIP-seq
MIRT2444907	hsa-miR-4766-3p	CLIP-seq
MIRT825939	hsa-miR-509-3-5p	CLIP-seq
MIRT825941	hsa-miR-509-5p	CLIP-seq
MIRT2182710	hsa-miR-548c-3p	CLIP-seq
MIRT2426672	hsa-miR-548p	CLIP-seq
MIRT2486304	hsa-miR-587	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0008360	Process	Regulation of cell shape	IBA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	IMP	21834987

Other IDs

• MIM: 300553
• HGNC: 17342
• e!Ensembl: ENSG00000165288

Protein

• UniProt ID: Q6RI45
• Protein name: Bromodomain and WD repeat-containing protein 3
• Protein function: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	169 → 207	WD domain, G-beta repeat	Repeat
  PF00400	WD40	212 → 250	WD domain, G-beta repeat	Repeat
  PF00400	WD40	254 → 296	WD domain, G-beta repeat	Repeat
  PF00400	WD40	352 → 392	WD domain, G-beta repeat	Repeat
  PF00400	WD40	455 → 494	WD domain, G-beta repeat	Repeat
  PF00439	Bromodomain	1147 → 1233	Bromodomain	Domain
  PF00439	Bromodomain	1309 → 1418	Bromodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined. {ECO:0000269|PubMed:15543602}.
• Sequence:

  MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDL
  VAANAHIPPDYLLKICERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGS
  AFAALHRGRPPELPVNYVKPPNVVNITSARQLTGCSRFGHIFPSSAYQHIKMHKRILGHL
  SSVYCVAFDRSGRRIFTGSDDCLVKIWATDDGRLLATLRGHSAEISDMAVNYENTLIAAG
  SCDKVVRVWCLRTCAPVAVLQGHSASITSIQFCPSTKGTNRYLTSTGADGTICFWQWHVK
  TMKFRDRPVKFTERSRPGVQISCSSFSSGGMFITTGSTDHVIRIYYLGSEVPEKIAELES
  HTDKVVAVQFCNNGDSLRFVSGSRDGTARIWQYQQQEWKSIVLDMATKMTGNNLPSGEDK
  ITKLKVTMVAWDRYDTTVITAVNNFLLKVWNSITGQLLHTLSGHDDEVFVLEAHPFDQRI
  ILSAGHDGNIFIWDLDRGTKIRNYFNMIEGQGHGAVFDCKFSPDGNHFACTDSHGHLLLF
  GFGCSKYYEKIPDQMFFHTDYRPLIRDANNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTK
  FQRLVPGRENCKDEQLIPQLGYVANGDGEVVEQVIGQQTNDQDESILDGIIRELQREQDL
  RLINEGDVPHLPVNRAYSVNGALRSPNMDISSSPNIRLRRHSSQIEGVRQMHNNAPRSQM
  ATERDLMAWSRRVVVNELNNGVSRVQEECRTAKGDIEISLYTVEKKKKPSYTTQRNDYEP
  SCGRSLRRTQRKRQHTYQTRSNIEHNSQASCQNSGVQEDSDSSSEEDETVGTSDASVEDP
  VVEWQSESSSSDSSSEYSDWTADAGINLQPPKRQTRQTTRKICSSSDEENLKSLEERQKK
  PKQTRKKKGGLVSIAGEPNEEWFAPQWILDTIPRRSPFVPQMGDELIYFRQGHEAYVRAV
  RKSKIYSVNLQKQPWNKMDLREQEFVKIVGIKYEVGPPTLCCLKLAFLDPISGKMTGESF
  SIKYHDMPDVIDFLVLHQFYNEAKERNWQIGDRFRSIIDDAWWFGTVESQQPFQPEYPDS
  SFQCYSVHWDNNEREKMSPWDMEPIPEGTAFPDEVGAGVPVSQEELTALLYKPQEGEWGA
  HSRDEECERVIQGINHLLSLDFASPFAVPVDLSAYPLYCTVVAYPTDLNTIRRRLENRFY
  RRISALMWEVRYIEHNARTFNEPDSPIVKAAKIVTDVLLRFIGDQSCTDILDTYNKIKAE
  ERNSTDAEEDTEIVDLDSDGPGTSSGRKVKCRGRRQSLKCNPDAWKKQCKELLSLIYERE
  DSEPFRQPADLLSYPGHQEQEGESSESVVPERQQDSSLSEDYQDVIDTPVDFSTVKETLE
  AGNYGSPLEFYKDVRQIFNNSKAYTSNKKSRIYSMMLRLSALFESHIKNIISEYKSAIQS
  QKRRRPRYRKRLRSSSSSLSSSGAPSPKGKQKQMKLQPKNDQNTSVSHARTSSPFSSPVS
  DAAEGLSLYLLDDEPDGPFSSSSFGGYSRSGNSHDPGKAKSFRNRVLPVKQDHSLDGPLT
  NGDGREPRTGIKRKLLSASEEDENMGGEDKEKKETKEKSHLSTSESGELGSSLSSESTCG
  SDSDSESTSRTDQDYVDGDHDYSKFIQTRPKRKLRKQHGNGKRNWKTRGTGGRGRWGRWG
  RWSRGGRGRGGRGRGSRGRGGGGTRGRGRGRGGRGASRGATRAKRARIADDEFDTMFSGR
  FSRLPRIKTRNQGRRTVLYNDDSDNDNFVSTEDPLNLGTSRSGRVRKMTEKARVSHLMGW
  NY

• Sequence length: 1802

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
BRWD3-related disorder	Likely pathogenic	rs2520212243	RCV004534299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1602308324	RCV000850218	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 93	Likely pathogenic; Pathogenic	rs2147755986, rs750080794, rs866592729, rs2147693460, rs2521148248, rs878853055, rs2520422667, rs746536339, rs2520223550, rs2520258929, rs730882185, rs730882186, rs137853272, rs2521156554, rs2520219483, rs2520558980, rs1057518650, rs1602311804, rs1569290395	RCV001780688 RCV001843797 RCV002052427 RCV002052428 RCV002291428 RCV001814124 RCV003128101 RCV003139521 RCV003148525 RCV003222502 RCV000011549 RCV000011550 RCV000011551 RCV003333612 RCV003335966 RCV003622411 RCV000415462 RCV000761506 RCV000768432	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2147693460	RCV003389186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRWD3-related X-linked syndromic intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal heart malformations	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 93	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked syndromic intellectual disability	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22024541		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22024541	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33617509	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24372385	Associate	★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	17668385	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	36514184	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24372385, 36514184	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	24372385	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	26323392	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35687490	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	17668385, 26323392, 36514184	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	24462886, 25666827, 26323392, 30086552, 31714006		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28475857		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	Pubtator	35687490	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	BEFREE	17668385, 24462886, 31714006		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	GENOMICS_ENGLAND_DG	28475857		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22024541		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	17668385		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 93 (disorder)	Mental retardation	UNIPROT_DG	17668385		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 93 (disorder)	Mental retardation	GENOMICS_ENGLAND_DG	17668385, 28475857		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 93 (disorder)	Mental retardation	BEFREE	30628072		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 93 (disorder)	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 93 (disorder)	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	24462886, 31714006		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29166413	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: FG syndrome phenotypic spectrum	FG Syndrome Phenotypic Spectrum	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30086552, 31714006		★☆☆☆☆ Found in Text Mining only
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	CLINGEN_DG	17668385, 24462886, 25666827, 28475857		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36514184	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	26323392		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	25877686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations