KDM5B (lysine demethylase 5B)

Gene

• Entrez ID: 10765
• Gene name: Lysine demethylase 5B
• Gene symbol: KDM5B
• Synonyms (NCBI Gene): CT31, JARID1B, MRT65, PLU-1, PLU1, PPP1R98, PUT1, RBBP2H1A, RBP2-H1
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein pl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs375695605	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs755833290	AA>-,AAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558478047	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1558479778	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558498928	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1558501648	->A	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1572705473	->A	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016728	hsa-miR-335-5p	Microarray	18185580
MIRT020412	hsa-miR-29c-3p	Sequencing	20371350
MIRT046553	hsa-let-7i-5p	CLASH	23622248
MIRT038506	hsa-miR-296-3p	CLASH	23622248
MIRT656976	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT656975	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT656974	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT656973	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT656972	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT183432	hsa-miR-5688	PAR-CLIP	23592263
MIRT183431	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT474870	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT474869	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT474868	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT474867	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT474866	hsa-miR-1911-3p	PAR-CLIP	23592263
MIRT474865	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT474864	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT474863	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT474862	hsa-miR-3185	PAR-CLIP	23592263
MIRT474861	hsa-miR-6124	PAR-CLIP	23592263
MIRT474860	hsa-miR-376b-5p	PAR-CLIP	23592263
MIRT474859	hsa-miR-376c-5p	PAR-CLIP	23592263
MIRT474858	hsa-miR-1261	PAR-CLIP	23592263
MIRT731954	hsa-miR-424-5p	Luciferase reporter assay	28082020
MIRT731954	hsa-miR-424-5p	Luciferase reporter assay	28082020
MIRT731954	hsa-miR-424-5p	Luciferase reporter assay	28082020
MIRT731954	hsa-miR-424-5p	Luciferase reporter assay	28082020
MIRT731954	hsa-miR-424-5p	Luciferase reporter assay	28082020
MIRT731954	hsa-miR-424-5p	Luciferase reporter assay	28082020
MIRT656976	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT656975	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT656974	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT656973	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT656972	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT183432	hsa-miR-5688	PAR-CLIP	23592263
MIRT183431	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT474870	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT474869	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT474868	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT474867	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT474866	hsa-miR-1911-3p	PAR-CLIP	23592263
MIRT474865	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT474864	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT474863	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT474862	hsa-miR-3185	PAR-CLIP	23592263
MIRT474861	hsa-miR-6124	PAR-CLIP	23592263
MIRT474860	hsa-miR-376b-5p	PAR-CLIP	23592263
MIRT474859	hsa-miR-376c-5p	PAR-CLIP	23592263
MIRT474858	hsa-miR-1261	PAR-CLIP	23592263
MIRT1084738	hsa-miR-1185	CLIP-seq
MIRT1084739	hsa-miR-1208	CLIP-seq
MIRT1084740	hsa-miR-1224-5p	CLIP-seq
MIRT1084741	hsa-miR-1237	CLIP-seq
MIRT1084742	hsa-miR-1258	CLIP-seq
MIRT1084743	hsa-miR-1269	CLIP-seq
MIRT1084744	hsa-miR-1269b	CLIP-seq
MIRT1084745	hsa-miR-1289	CLIP-seq
MIRT1084746	hsa-miR-1304	CLIP-seq
MIRT1084747	hsa-miR-1305	CLIP-seq
MIRT1084748	hsa-miR-132	CLIP-seq
MIRT1084749	hsa-miR-149	CLIP-seq
MIRT1084750	hsa-miR-155	CLIP-seq
MIRT1084751	hsa-miR-194	CLIP-seq
MIRT1084752	hsa-miR-19a	CLIP-seq
MIRT1084753	hsa-miR-19b	CLIP-seq
MIRT1084754	hsa-miR-21	CLIP-seq
MIRT1084755	hsa-miR-212	CLIP-seq
MIRT1084756	hsa-miR-219-1-3p	CLIP-seq
MIRT1084757	hsa-miR-2467-3p	CLIP-seq
MIRT1084758	hsa-miR-29a	CLIP-seq
MIRT1084759	hsa-miR-29b	CLIP-seq
MIRT1084760	hsa-miR-29c	CLIP-seq
MIRT1084761	hsa-miR-3064-5p	CLIP-seq
MIRT1084762	hsa-miR-3065-5p	CLIP-seq
MIRT1084763	hsa-miR-3117-3p	CLIP-seq
MIRT1084764	hsa-miR-3117-5p	CLIP-seq
MIRT1084765	hsa-miR-3127-3p	CLIP-seq
MIRT1084766	hsa-miR-3140-5p	CLIP-seq
MIRT1084767	hsa-miR-3147	CLIP-seq
MIRT1084768	hsa-miR-3148	CLIP-seq
MIRT1084769	hsa-miR-3174	CLIP-seq
MIRT1084770	hsa-miR-3198	CLIP-seq
MIRT1084771	hsa-miR-3202	CLIP-seq
MIRT1084772	hsa-miR-320e	CLIP-seq
MIRT1084773	hsa-miR-323-3p	CLIP-seq
MIRT1084774	hsa-miR-331-3p	CLIP-seq
MIRT1084775	hsa-miR-338-5p	CLIP-seq
MIRT1084776	hsa-miR-339-5p	CLIP-seq
MIRT1084777	hsa-miR-3591-5p	CLIP-seq
MIRT1084778	hsa-miR-3605-5p	CLIP-seq
MIRT1084779	hsa-miR-3613-3p	CLIP-seq
MIRT1084780	hsa-miR-3616-5p	CLIP-seq
MIRT1084781	hsa-miR-3647-5p	CLIP-seq
MIRT1084782	hsa-miR-3662	CLIP-seq
MIRT1084783	hsa-miR-3671	CLIP-seq
MIRT1084784	hsa-miR-3679-5p	CLIP-seq
MIRT1084785	hsa-miR-3686	CLIP-seq
MIRT1084786	hsa-miR-3690	CLIP-seq
MIRT1084787	hsa-miR-3692	CLIP-seq
MIRT1084788	hsa-miR-3915	CLIP-seq
MIRT1084789	hsa-miR-4251	CLIP-seq
MIRT1084790	hsa-miR-4254	CLIP-seq
MIRT1084791	hsa-miR-4255	CLIP-seq
MIRT1084792	hsa-miR-4270	CLIP-seq
MIRT1084793	hsa-miR-4282	CLIP-seq
MIRT1084794	hsa-miR-4294	CLIP-seq
MIRT1084795	hsa-miR-4297	CLIP-seq
MIRT1084796	hsa-miR-4303	CLIP-seq
MIRT1084797	hsa-miR-4305	CLIP-seq
MIRT1084798	hsa-miR-4309	CLIP-seq
MIRT1084799	hsa-miR-4310	CLIP-seq
MIRT1084800	hsa-miR-4329	CLIP-seq
MIRT1084801	hsa-miR-4422	CLIP-seq
MIRT1084802	hsa-miR-4441	CLIP-seq
MIRT1084803	hsa-miR-4475	CLIP-seq
MIRT1084804	hsa-miR-4476	CLIP-seq
MIRT1084805	hsa-miR-4477b	CLIP-seq
MIRT1084806	hsa-miR-4490	CLIP-seq
MIRT1084807	hsa-miR-452	CLIP-seq
MIRT1084808	hsa-miR-4529-3p	CLIP-seq
MIRT1084809	hsa-miR-4659a-3p	CLIP-seq
MIRT1084810	hsa-miR-4659b-3p	CLIP-seq
MIRT1084811	hsa-miR-4663	CLIP-seq
MIRT1084812	hsa-miR-4676-3p	CLIP-seq
MIRT1084813	hsa-miR-4680-3p	CLIP-seq
MIRT1084814	hsa-miR-4687-3p	CLIP-seq
MIRT1084815	hsa-miR-4689	CLIP-seq
MIRT1084816	hsa-miR-4704-5p	CLIP-seq
MIRT1084817	hsa-miR-4705	CLIP-seq
MIRT1084818	hsa-miR-4709-3p	CLIP-seq
MIRT1084819	hsa-miR-4709-5p	CLIP-seq
MIRT1084820	hsa-miR-4719	CLIP-seq
MIRT1084821	hsa-miR-4776-3p	CLIP-seq
MIRT1084822	hsa-miR-4794	CLIP-seq
MIRT1084823	hsa-miR-4795-5p	CLIP-seq
MIRT1084824	hsa-miR-499-3p	CLIP-seq
MIRT1084825	hsa-miR-499a-3p	CLIP-seq
MIRT1084826	hsa-miR-532-5p	CLIP-seq
MIRT1084827	hsa-miR-539	CLIP-seq
MIRT1084828	hsa-miR-541	CLIP-seq
MIRT1084829	hsa-miR-543	CLIP-seq
MIRT1084830	hsa-miR-548g	CLIP-seq
MIRT1084831	hsa-miR-548t	CLIP-seq
MIRT1084832	hsa-miR-562	CLIP-seq
MIRT1084833	hsa-miR-571	CLIP-seq
MIRT1084834	hsa-miR-573	CLIP-seq
MIRT1084835	hsa-miR-590-3p	CLIP-seq
MIRT1084836	hsa-miR-590-5p	CLIP-seq
MIRT1084837	hsa-miR-599	CLIP-seq
MIRT1084838	hsa-miR-603	CLIP-seq
MIRT1084839	hsa-miR-605	CLIP-seq
MIRT1084840	hsa-miR-607	CLIP-seq
MIRT1084841	hsa-miR-628-5p	CLIP-seq
MIRT1084842	hsa-miR-654-5p	CLIP-seq
MIRT1084843	hsa-miR-875-3p	CLIP-seq
MIRT1084844	hsa-miR-936	CLIP-seq
MIRT2021539	hsa-miR-103a	CLIP-seq
MIRT2021540	hsa-miR-107	CLIP-seq
MIRT2021541	hsa-miR-1178	CLIP-seq
MIRT2021542	hsa-miR-1179	CLIP-seq
MIRT1084738	hsa-miR-1185	CLIP-seq
MIRT1084739	hsa-miR-1208	CLIP-seq
MIRT1084740	hsa-miR-1224-5p	CLIP-seq
MIRT2021543	hsa-miR-1226	CLIP-seq
MIRT2021544	hsa-miR-1292	CLIP-seq
MIRT1084746	hsa-miR-1304	CLIP-seq
MIRT1084747	hsa-miR-1305	CLIP-seq
MIRT1084750	hsa-miR-155	CLIP-seq
MIRT2021545	hsa-miR-1911	CLIP-seq
MIRT1084751	hsa-miR-194	CLIP-seq
MIRT2021546	hsa-miR-2052	CLIP-seq
MIRT2021547	hsa-miR-298	CLIP-seq
MIRT1084758	hsa-miR-29a	CLIP-seq
MIRT1084759	hsa-miR-29b	CLIP-seq
MIRT1084760	hsa-miR-29c	CLIP-seq
MIRT2021548	hsa-miR-300	CLIP-seq
MIRT2021549	hsa-miR-3074-3p	CLIP-seq
MIRT2021550	hsa-miR-3158-5p	CLIP-seq
MIRT2021551	hsa-miR-3175	CLIP-seq
MIRT1084771	hsa-miR-3202	CLIP-seq
MIRT1084772	hsa-miR-320e	CLIP-seq
MIRT1084775	hsa-miR-338-5p	CLIP-seq
MIRT1084778	hsa-miR-3605-5p	CLIP-seq
MIRT1084779	hsa-miR-3613-3p	CLIP-seq
MIRT1084780	hsa-miR-3616-5p	CLIP-seq
MIRT1084781	hsa-miR-3647-5p	CLIP-seq
MIRT2021552	hsa-miR-3663-5p	CLIP-seq
MIRT1084783	hsa-miR-3671	CLIP-seq
MIRT1084784	hsa-miR-3679-5p	CLIP-seq
MIRT2021553	hsa-miR-3681	CLIP-seq
MIRT1084785	hsa-miR-3686	CLIP-seq
MIRT2021554	hsa-miR-3688-5p	CLIP-seq
MIRT1084787	hsa-miR-3692	CLIP-seq
MIRT2021555	hsa-miR-369-3p	CLIP-seq
MIRT2021556	hsa-miR-3714	CLIP-seq
MIRT2021557	hsa-miR-374a	CLIP-seq
MIRT2021558	hsa-miR-374b	CLIP-seq
MIRT2021559	hsa-miR-376c	CLIP-seq
MIRT2021560	hsa-miR-381	CLIP-seq
MIRT1084788	hsa-miR-3915	CLIP-seq
MIRT2021561	hsa-miR-3919	CLIP-seq
MIRT2021562	hsa-miR-409-3p	CLIP-seq
MIRT2021563	hsa-miR-4275	CLIP-seq
MIRT1084793	hsa-miR-4282	CLIP-seq
MIRT1084795	hsa-miR-4297	CLIP-seq
MIRT1084799	hsa-miR-4310	CLIP-seq
MIRT2021564	hsa-miR-4330	CLIP-seq
MIRT2021565	hsa-miR-4418	CLIP-seq
MIRT1084801	hsa-miR-4422	CLIP-seq
MIRT2021566	hsa-miR-4438	CLIP-seq
MIRT2021567	hsa-miR-4457	CLIP-seq
MIRT2021568	hsa-miR-4471	CLIP-seq
MIRT1084803	hsa-miR-4475	CLIP-seq
MIRT1084804	hsa-miR-4476	CLIP-seq
MIRT2021569	hsa-miR-4484	CLIP-seq
MIRT1084806	hsa-miR-4490	CLIP-seq
MIRT2021570	hsa-miR-4499	CLIP-seq
MIRT1084807	hsa-miR-452	CLIP-seq
MIRT2021571	hsa-miR-4670-3p	CLIP-seq
MIRT1084812	hsa-miR-4676-3p	CLIP-seq
MIRT1084815	hsa-miR-4689	CLIP-seq
MIRT1084817	hsa-miR-4705	CLIP-seq
MIRT2021572	hsa-miR-4718	CLIP-seq
MIRT1084820	hsa-miR-4719	CLIP-seq
MIRT2021573	hsa-miR-4733-3p	CLIP-seq
MIRT2021574	hsa-miR-4753-3p	CLIP-seq
MIRT2021575	hsa-miR-4773	CLIP-seq
MIRT1084823	hsa-miR-4795-5p	CLIP-seq
MIRT2021576	hsa-miR-4797-5p	CLIP-seq
MIRT1084824	hsa-miR-499-3p	CLIP-seq
MIRT1084825	hsa-miR-499a-3p	CLIP-seq
MIRT2021577	hsa-miR-509-3-5p	CLIP-seq
MIRT2021578	hsa-miR-5095	CLIP-seq
MIRT2021579	hsa-miR-509-5p	CLIP-seq
MIRT2021580	hsa-miR-513b	CLIP-seq
MIRT1084826	hsa-miR-532-5p	CLIP-seq
MIRT1084828	hsa-miR-541	CLIP-seq
MIRT2021581	hsa-miR-548an	CLIP-seq
MIRT1084830	hsa-miR-548g	CLIP-seq
MIRT1084831	hsa-miR-548t	CLIP-seq
MIRT1084834	hsa-miR-573	CLIP-seq
MIRT2021582	hsa-miR-577	CLIP-seq
MIRT1084835	hsa-miR-590-3p	CLIP-seq
MIRT1084837	hsa-miR-599	CLIP-seq
MIRT2021583	hsa-miR-600	CLIP-seq
MIRT1084838	hsa-miR-603	CLIP-seq
MIRT1084839	hsa-miR-605	CLIP-seq
MIRT1084840	hsa-miR-607	CLIP-seq
MIRT1084842	hsa-miR-654-5p	CLIP-seq
MIRT2021584	hsa-miR-7	CLIP-seq
MIRT2021585	hsa-miR-942	CLIP-seq
MIRT2021539	hsa-miR-103a	CLIP-seq
MIRT2253059	hsa-miR-105	CLIP-seq
MIRT2021540	hsa-miR-107	CLIP-seq
MIRT2021542	hsa-miR-1179	CLIP-seq
MIRT1084738	hsa-miR-1185	CLIP-seq
MIRT1084739	hsa-miR-1208	CLIP-seq
MIRT1084740	hsa-miR-1224-5p	CLIP-seq
MIRT2021543	hsa-miR-1226	CLIP-seq
MIRT2253060	hsa-miR-1243	CLIP-seq
MIRT1084743	hsa-miR-1269	CLIP-seq
MIRT1084744	hsa-miR-1269b	CLIP-seq
MIRT1084745	hsa-miR-1289	CLIP-seq
MIRT2253061	hsa-miR-1294	CLIP-seq
MIRT1084746	hsa-miR-1304	CLIP-seq
MIRT2253062	hsa-miR-150	CLIP-seq
MIRT1084750	hsa-miR-155	CLIP-seq
MIRT2253063	hsa-miR-18a	CLIP-seq
MIRT2253064	hsa-miR-18b	CLIP-seq
MIRT2021545	hsa-miR-1911	CLIP-seq
MIRT1084751	hsa-miR-194	CLIP-seq
MIRT2021546	hsa-miR-2052	CLIP-seq
MIRT2021547	hsa-miR-298	CLIP-seq
MIRT1084758	hsa-miR-29a	CLIP-seq
MIRT1084759	hsa-miR-29b	CLIP-seq
MIRT1084760	hsa-miR-29c	CLIP-seq
MIRT2253065	hsa-miR-30a	CLIP-seq
MIRT2253066	hsa-miR-30b	CLIP-seq
MIRT2253067	hsa-miR-30c	CLIP-seq
MIRT2253068	hsa-miR-30d	CLIP-seq
MIRT2253069	hsa-miR-30e	CLIP-seq
MIRT1084764	hsa-miR-3117-5p	CLIP-seq
MIRT1084766	hsa-miR-3140-5p	CLIP-seq
MIRT2253070	hsa-miR-3159	CLIP-seq
MIRT1084769	hsa-miR-3174	CLIP-seq
MIRT2253071	hsa-miR-3183	CLIP-seq
MIRT1084770	hsa-miR-3198	CLIP-seq
MIRT1084772	hsa-miR-320e	CLIP-seq
MIRT1084773	hsa-miR-323-3p	CLIP-seq
MIRT2253072	hsa-miR-34c-3p	CLIP-seq
MIRT1084778	hsa-miR-3605-5p	CLIP-seq
MIRT2253073	hsa-miR-3606	CLIP-seq
MIRT2253074	hsa-miR-3609	CLIP-seq
MIRT2253075	hsa-miR-3616-3p	CLIP-seq
MIRT1084780	hsa-miR-3616-5p	CLIP-seq
MIRT2253076	hsa-miR-3617	CLIP-seq
MIRT1084781	hsa-miR-3647-5p	CLIP-seq
MIRT2253077	hsa-miR-3654	CLIP-seq
MIRT1084783	hsa-miR-3671	CLIP-seq
MIRT1084784	hsa-miR-3679-5p	CLIP-seq
MIRT1084785	hsa-miR-3686	CLIP-seq
MIRT2021554	hsa-miR-3688-5p	CLIP-seq
MIRT1084787	hsa-miR-3692	CLIP-seq
MIRT2021555	hsa-miR-369-3p	CLIP-seq
MIRT2021556	hsa-miR-3714	CLIP-seq
MIRT2021557	hsa-miR-374a	CLIP-seq
MIRT2021558	hsa-miR-374b	CLIP-seq
MIRT2021559	hsa-miR-376c	CLIP-seq
MIRT1084788	hsa-miR-3915	CLIP-seq
MIRT2021561	hsa-miR-3919	CLIP-seq
MIRT2253078	hsa-miR-4252	CLIP-seq
MIRT1084792	hsa-miR-4270	CLIP-seq
MIRT2021563	hsa-miR-4275	CLIP-seq
MIRT2253079	hsa-miR-4278	CLIP-seq
MIRT2253080	hsa-miR-4279	CLIP-seq
MIRT1084793	hsa-miR-4282	CLIP-seq
MIRT1084794	hsa-miR-4294	CLIP-seq
MIRT1084795	hsa-miR-4297	CLIP-seq
MIRT1084797	hsa-miR-4305	CLIP-seq
MIRT1084798	hsa-miR-4309	CLIP-seq
MIRT1084799	hsa-miR-4310	CLIP-seq
MIRT2253081	hsa-miR-4316	CLIP-seq
MIRT1084801	hsa-miR-4422	CLIP-seq
MIRT2021566	hsa-miR-4438	CLIP-seq
MIRT1084802	hsa-miR-4441	CLIP-seq
MIRT2253082	hsa-miR-4446-3p	CLIP-seq
MIRT2021567	hsa-miR-4457	CLIP-seq
MIRT1084803	hsa-miR-4475	CLIP-seq
MIRT2021569	hsa-miR-4484	CLIP-seq
MIRT1084806	hsa-miR-4490	CLIP-seq
MIRT2021570	hsa-miR-4499	CLIP-seq
MIRT1084807	hsa-miR-452	CLIP-seq
MIRT1084808	hsa-miR-4529-3p	CLIP-seq
MIRT2253083	hsa-miR-4635	CLIP-seq
MIRT2021571	hsa-miR-4670-3p	CLIP-seq
MIRT2253084	hsa-miR-4675	CLIP-seq
MIRT1084812	hsa-miR-4676-3p	CLIP-seq
MIRT2253085	hsa-miR-4677-3p	CLIP-seq
MIRT2253086	hsa-miR-4679	CLIP-seq
MIRT1084813	hsa-miR-4680-3p	CLIP-seq
MIRT1084815	hsa-miR-4689	CLIP-seq
MIRT2253087	hsa-miR-4691-3p	CLIP-seq
MIRT2253088	hsa-miR-4699-3p	CLIP-seq
MIRT1084816	hsa-miR-4704-5p	CLIP-seq
MIRT1084817	hsa-miR-4705	CLIP-seq
MIRT1084818	hsa-miR-4709-3p	CLIP-seq
MIRT2253089	hsa-miR-4716-3p	CLIP-seq
MIRT2021572	hsa-miR-4718	CLIP-seq
MIRT1084820	hsa-miR-4719	CLIP-seq
MIRT2253090	hsa-miR-4721	CLIP-seq
MIRT2253091	hsa-miR-4723-3p	CLIP-seq
MIRT2021573	hsa-miR-4733-3p	CLIP-seq
MIRT2253092	hsa-miR-4735-3p	CLIP-seq
MIRT2253093	hsa-miR-4741	CLIP-seq
MIRT2021574	hsa-miR-4753-3p	CLIP-seq
MIRT2253094	hsa-miR-4775	CLIP-seq
MIRT1084821	hsa-miR-4776-3p	CLIP-seq
MIRT1084823	hsa-miR-4795-5p	CLIP-seq
MIRT2021576	hsa-miR-4797-5p	CLIP-seq
MIRT2253095	hsa-miR-495	CLIP-seq
MIRT1084824	hsa-miR-499-3p	CLIP-seq
MIRT1084825	hsa-miR-499a-3p	CLIP-seq
MIRT2021578	hsa-miR-5095	CLIP-seq
MIRT2253096	hsa-miR-513c	CLIP-seq
MIRT2253097	hsa-miR-514b-5p	CLIP-seq
MIRT2253098	hsa-miR-516a-3p	CLIP-seq
MIRT2253099	hsa-miR-520g	CLIP-seq
MIRT2253100	hsa-miR-520h	CLIP-seq
MIRT1084826	hsa-miR-532-5p	CLIP-seq
MIRT1084829	hsa-miR-543	CLIP-seq
MIRT2253101	hsa-miR-548ae	CLIP-seq
MIRT2253102	hsa-miR-548ah	CLIP-seq
MIRT2253103	hsa-miR-548aj	CLIP-seq
MIRT2253104	hsa-miR-548am	CLIP-seq
MIRT2021581	hsa-miR-548an	CLIP-seq
MIRT2253105	hsa-miR-548x	CLIP-seq
MIRT1084832	hsa-miR-562	CLIP-seq
MIRT1084834	hsa-miR-573	CLIP-seq
MIRT1084835	hsa-miR-590-3p	CLIP-seq
MIRT1084837	hsa-miR-599	CLIP-seq
MIRT2021583	hsa-miR-600	CLIP-seq
MIRT1084838	hsa-miR-603	CLIP-seq
MIRT1084839	hsa-miR-605	CLIP-seq
MIRT1084840	hsa-miR-607	CLIP-seq
MIRT2253106	hsa-miR-641	CLIP-seq
MIRT2021584	hsa-miR-7	CLIP-seq
MIRT2253107	hsa-miR-921	CLIP-seq
MIRT2021585	hsa-miR-942	CLIP-seq
MIRT1084739	hsa-miR-1208	CLIP-seq
MIRT2021546	hsa-miR-2052	CLIP-seq
MIRT1084758	hsa-miR-29a	CLIP-seq
MIRT1084759	hsa-miR-29b	CLIP-seq
MIRT1084760	hsa-miR-29c	CLIP-seq
MIRT2253072	hsa-miR-34c-3p	CLIP-seq
MIRT1084787	hsa-miR-3692	CLIP-seq
MIRT2021559	hsa-miR-376c	CLIP-seq
MIRT2021561	hsa-miR-3919	CLIP-seq
MIRT1084793	hsa-miR-4282	CLIP-seq
MIRT1084799	hsa-miR-4310	CLIP-seq
MIRT1084807	hsa-miR-452	CLIP-seq
MIRT2253083	hsa-miR-4635	CLIP-seq
MIRT1084812	hsa-miR-4676-3p	CLIP-seq
MIRT1084818	hsa-miR-4709-3p	CLIP-seq
MIRT2021574	hsa-miR-4753-3p	CLIP-seq
MIRT2021576	hsa-miR-4797-5p	CLIP-seq
MIRT1084824	hsa-miR-499-3p	CLIP-seq
MIRT1084825	hsa-miR-499a-3p	CLIP-seq
MIRT1084838	hsa-miR-603	CLIP-seq
MIRT2021541	hsa-miR-1178	CLIP-seq
MIRT1084739	hsa-miR-1208	CLIP-seq
MIRT2021546	hsa-miR-2052	CLIP-seq
MIRT1084758	hsa-miR-29a	CLIP-seq
MIRT1084759	hsa-miR-29b	CLIP-seq
MIRT1084760	hsa-miR-29c	CLIP-seq
MIRT1084785	hsa-miR-3686	CLIP-seq
MIRT2021559	hsa-miR-376c	CLIP-seq
MIRT2021564	hsa-miR-4330	CLIP-seq
MIRT1084801	hsa-miR-4422	CLIP-seq
MIRT1084807	hsa-miR-452	CLIP-seq
MIRT2021571	hsa-miR-4670-3p	CLIP-seq
MIRT1084812	hsa-miR-4676-3p	CLIP-seq
MIRT1084817	hsa-miR-4705	CLIP-seq
MIRT1084824	hsa-miR-499-3p	CLIP-seq
MIRT1084825	hsa-miR-499a-3p	CLIP-seq
MIRT2021582	hsa-miR-577	CLIP-seq
MIRT1084837	hsa-miR-599	CLIP-seq
MIRT1084838	hsa-miR-603	CLIP-seq
MIRT2021541	hsa-miR-1178	CLIP-seq
MIRT1084764	hsa-miR-3117-5p	CLIP-seq
MIRT2021559	hsa-miR-376c	CLIP-seq
MIRT1084797	hsa-miR-4305	CLIP-seq
MIRT2021571	hsa-miR-4670-3p	CLIP-seq
MIRT1084816	hsa-miR-4704-5p	CLIP-seq
MIRT1084837	hsa-miR-599	CLIP-seq
MIRT2021541	hsa-miR-1178	CLIP-seq
MIRT1084739	hsa-miR-1208	CLIP-seq
MIRT1084741	hsa-miR-1237	CLIP-seq
MIRT1084742	hsa-miR-1258	CLIP-seq
MIRT1084743	hsa-miR-1269	CLIP-seq
MIRT1084744	hsa-miR-1269b	CLIP-seq
MIRT2021544	hsa-miR-1292	CLIP-seq
MIRT2555958	hsa-miR-139-5p	CLIP-seq
MIRT1084749	hsa-miR-149	CLIP-seq
MIRT2253062	hsa-miR-150	CLIP-seq
MIRT1084750	hsa-miR-155	CLIP-seq
MIRT2555959	hsa-miR-1827	CLIP-seq
MIRT2253063	hsa-miR-18a	CLIP-seq
MIRT2253064	hsa-miR-18b	CLIP-seq
MIRT1084752	hsa-miR-19a	CLIP-seq
MIRT1084753	hsa-miR-19b	CLIP-seq
MIRT2021546	hsa-miR-2052	CLIP-seq
MIRT1084757	hsa-miR-2467-3p	CLIP-seq
MIRT2021547	hsa-miR-298	CLIP-seq
MIRT1084758	hsa-miR-29a	CLIP-seq
MIRT1084759	hsa-miR-29b	CLIP-seq
MIRT1084760	hsa-miR-29c	CLIP-seq
MIRT2021548	hsa-miR-300	CLIP-seq
MIRT1084761	hsa-miR-3064-5p	CLIP-seq
MIRT1084763	hsa-miR-3117-3p	CLIP-seq
MIRT1084764	hsa-miR-3117-5p	CLIP-seq
MIRT1084765	hsa-miR-3127-3p	CLIP-seq
MIRT1084767	hsa-miR-3147	CLIP-seq
MIRT2021551	hsa-miR-3175	CLIP-seq
MIRT2555960	hsa-miR-3184	CLIP-seq
MIRT2555961	hsa-miR-3192	CLIP-seq
MIRT1084771	hsa-miR-3202	CLIP-seq
MIRT1084772	hsa-miR-320e	CLIP-seq
MIRT1084777	hsa-miR-3591-5p	CLIP-seq
MIRT2253074	hsa-miR-3609	CLIP-seq
MIRT2555962	hsa-miR-3612	CLIP-seq
MIRT1084779	hsa-miR-3613-3p	CLIP-seq
MIRT2021553	hsa-miR-3681	CLIP-seq
MIRT1084785	hsa-miR-3686	CLIP-seq
MIRT2021559	hsa-miR-376c	CLIP-seq
MIRT2021560	hsa-miR-381	CLIP-seq
MIRT2555963	hsa-miR-423-5p	CLIP-seq
MIRT1084791	hsa-miR-4255	CLIP-seq
MIRT1084793	hsa-miR-4282	CLIP-seq
MIRT1084795	hsa-miR-4297	CLIP-seq
MIRT1084797	hsa-miR-4305	CLIP-seq
MIRT1084799	hsa-miR-4310	CLIP-seq
MIRT2555964	hsa-miR-4314	CLIP-seq
MIRT2021564	hsa-miR-4330	CLIP-seq
MIRT1084801	hsa-miR-4422	CLIP-seq
MIRT2555965	hsa-miR-4459	CLIP-seq
MIRT2021568	hsa-miR-4471	CLIP-seq
MIRT1084804	hsa-miR-4476	CLIP-seq
MIRT1084806	hsa-miR-4490	CLIP-seq
MIRT2555966	hsa-miR-4496	CLIP-seq
MIRT1084807	hsa-miR-452	CLIP-seq
MIRT1084808	hsa-miR-4529-3p	CLIP-seq
MIRT2555967	hsa-miR-4646-5p	CLIP-seq
MIRT2021571	hsa-miR-4670-3p	CLIP-seq
MIRT1084812	hsa-miR-4676-3p	CLIP-seq
MIRT2555968	hsa-miR-4676-5p	CLIP-seq
MIRT1084814	hsa-miR-4687-3p	CLIP-seq
MIRT2555969	hsa-miR-4688	CLIP-seq
MIRT2555970	hsa-miR-4695-5p	CLIP-seq
MIRT1084816	hsa-miR-4704-5p	CLIP-seq
MIRT1084817	hsa-miR-4705	CLIP-seq
MIRT1084819	hsa-miR-4709-5p	CLIP-seq
MIRT2021572	hsa-miR-4718	CLIP-seq
MIRT2253092	hsa-miR-4735-3p	CLIP-seq
MIRT1084822	hsa-miR-4794	CLIP-seq
MIRT2555971	hsa-miR-4799-5p	CLIP-seq
MIRT2555972	hsa-miR-486-3p	CLIP-seq
MIRT2555973	hsa-miR-490-3p	CLIP-seq
MIRT2253095	hsa-miR-495	CLIP-seq
MIRT1084824	hsa-miR-499-3p	CLIP-seq
MIRT1084825	hsa-miR-499a-3p	CLIP-seq
MIRT2253099	hsa-miR-520g	CLIP-seq
MIRT2253100	hsa-miR-520h	CLIP-seq
MIRT1084826	hsa-miR-532-5p	CLIP-seq
MIRT1084827	hsa-miR-539	CLIP-seq
MIRT1084828	hsa-miR-541	CLIP-seq
MIRT2253101	hsa-miR-548ae	CLIP-seq
MIRT2253102	hsa-miR-548ah	CLIP-seq
MIRT2253103	hsa-miR-548aj	CLIP-seq
MIRT2253104	hsa-miR-548am	CLIP-seq
MIRT1084831	hsa-miR-548t	CLIP-seq
MIRT2555974	hsa-miR-548v	CLIP-seq
MIRT2253105	hsa-miR-548x	CLIP-seq
MIRT2555975	hsa-miR-575	CLIP-seq
MIRT2021582	hsa-miR-577	CLIP-seq
MIRT2555976	hsa-miR-582-5p	CLIP-seq
MIRT1084835	hsa-miR-590-3p	CLIP-seq
MIRT1084837	hsa-miR-599	CLIP-seq
MIRT1084838	hsa-miR-603	CLIP-seq
MIRT1084839	hsa-miR-605	CLIP-seq
MIRT2555977	hsa-miR-650	CLIP-seq
MIRT1084842	hsa-miR-654-5p	CLIP-seq
MIRT2555978	hsa-miR-665	CLIP-seq
MIRT2555979	hsa-miR-760	CLIP-seq
MIRT1084844	hsa-miR-936	CLIP-seq
MIRT2021541	hsa-miR-1178	CLIP-seq
MIRT1084739	hsa-miR-1208	CLIP-seq
MIRT1084741	hsa-miR-1237	CLIP-seq
MIRT1084743	hsa-miR-1269	CLIP-seq
MIRT1084744	hsa-miR-1269b	CLIP-seq
MIRT2021544	hsa-miR-1292	CLIP-seq
MIRT1084748	hsa-miR-132	CLIP-seq
MIRT2555958	hsa-miR-139-5p	CLIP-seq
MIRT1084749	hsa-miR-149	CLIP-seq
MIRT2253062	hsa-miR-150	CLIP-seq
MIRT1084750	hsa-miR-155	CLIP-seq
MIRT2253063	hsa-miR-18a	CLIP-seq
MIRT2253064	hsa-miR-18b	CLIP-seq
MIRT1084752	hsa-miR-19a	CLIP-seq
MIRT1084753	hsa-miR-19b	CLIP-seq
MIRT1084755	hsa-miR-212	CLIP-seq
MIRT2683275	hsa-miR-2355-5p	CLIP-seq
MIRT1084757	hsa-miR-2467-3p	CLIP-seq
MIRT2021547	hsa-miR-298	CLIP-seq
MIRT1084758	hsa-miR-29a	CLIP-seq
MIRT1084759	hsa-miR-29b	CLIP-seq
MIRT1084760	hsa-miR-29c	CLIP-seq
MIRT2021548	hsa-miR-300	CLIP-seq
MIRT1084761	hsa-miR-3064-5p	CLIP-seq
MIRT1084764	hsa-miR-3117-5p	CLIP-seq
MIRT1084765	hsa-miR-3127-3p	CLIP-seq
MIRT1084767	hsa-miR-3147	CLIP-seq
MIRT2021551	hsa-miR-3175	CLIP-seq
MIRT2555960	hsa-miR-3184	CLIP-seq
MIRT1084772	hsa-miR-320e	CLIP-seq
MIRT1084777	hsa-miR-3591-5p	CLIP-seq
MIRT2253074	hsa-miR-3609	CLIP-seq
MIRT1084779	hsa-miR-3613-3p	CLIP-seq
MIRT2683276	hsa-miR-3679-3p	CLIP-seq
MIRT2021553	hsa-miR-3681	CLIP-seq
MIRT1084785	hsa-miR-3686	CLIP-seq
MIRT2021559	hsa-miR-376c	CLIP-seq
MIRT2021560	hsa-miR-381	CLIP-seq
MIRT2555963	hsa-miR-423-5p	CLIP-seq
MIRT1084791	hsa-miR-4255	CLIP-seq
MIRT1084793	hsa-miR-4282	CLIP-seq
MIRT1084795	hsa-miR-4297	CLIP-seq
MIRT1084797	hsa-miR-4305	CLIP-seq
MIRT1084799	hsa-miR-4310	CLIP-seq
MIRT2021564	hsa-miR-4330	CLIP-seq
MIRT1084801	hsa-miR-4422	CLIP-seq
MIRT2021568	hsa-miR-4471	CLIP-seq
MIRT1084806	hsa-miR-4490	CLIP-seq
MIRT2555966	hsa-miR-4496	CLIP-seq
MIRT1084807	hsa-miR-452	CLIP-seq
MIRT1084808	hsa-miR-4529-3p	CLIP-seq
MIRT2021571	hsa-miR-4670-3p	CLIP-seq
MIRT1084812	hsa-miR-4676-3p	CLIP-seq
MIRT2555968	hsa-miR-4676-5p	CLIP-seq
MIRT1084814	hsa-miR-4687-3p	CLIP-seq
MIRT2555969	hsa-miR-4688	CLIP-seq
MIRT1084816	hsa-miR-4704-5p	CLIP-seq
MIRT1084817	hsa-miR-4705	CLIP-seq
MIRT1084819	hsa-miR-4709-5p	CLIP-seq
MIRT2021572	hsa-miR-4718	CLIP-seq
MIRT2253092	hsa-miR-4735-3p	CLIP-seq
MIRT1084822	hsa-miR-4794	CLIP-seq
MIRT2555971	hsa-miR-4799-5p	CLIP-seq
MIRT2555972	hsa-miR-486-3p	CLIP-seq
MIRT2555973	hsa-miR-490-3p	CLIP-seq
MIRT2253095	hsa-miR-495	CLIP-seq
MIRT1084824	hsa-miR-499-3p	CLIP-seq
MIRT1084825	hsa-miR-499a-3p	CLIP-seq
MIRT2683277	hsa-miR-513a-3p	CLIP-seq
MIRT2253099	hsa-miR-520g	CLIP-seq
MIRT2253100	hsa-miR-520h	CLIP-seq
MIRT1084826	hsa-miR-532-5p	CLIP-seq
MIRT1084827	hsa-miR-539	CLIP-seq
MIRT1084828	hsa-miR-541	CLIP-seq
MIRT2253101	hsa-miR-548ae	CLIP-seq
MIRT2253102	hsa-miR-548ah	CLIP-seq
MIRT2253103	hsa-miR-548aj	CLIP-seq
MIRT2253104	hsa-miR-548am	CLIP-seq
MIRT2683278	hsa-miR-548c-3p	CLIP-seq
MIRT1084831	hsa-miR-548t	CLIP-seq
MIRT2555974	hsa-miR-548v	CLIP-seq
MIRT2253105	hsa-miR-548x	CLIP-seq
MIRT2555975	hsa-miR-575	CLIP-seq
MIRT2021582	hsa-miR-577	CLIP-seq
MIRT2555976	hsa-miR-582-5p	CLIP-seq
MIRT1084835	hsa-miR-590-3p	CLIP-seq
MIRT1084837	hsa-miR-599	CLIP-seq
MIRT1084838	hsa-miR-603	CLIP-seq
MIRT1084839	hsa-miR-605	CLIP-seq
MIRT1084842	hsa-miR-654-5p	CLIP-seq
MIRT2555979	hsa-miR-760	CLIP-seq
MIRT1084844	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0003676	Function	Nucleic acid binding	EXP	20403335
GO:0003676	Function	Nucleic acid binding	IMP	20403335
GO:0003677	Function	DNA binding	IDA	15640446
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	12657635
GO:0005515	Function	Protein binding	IPI	12657635, 24937458
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20403335
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	12657635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0007338	Process	Single fertilization	IEA
GO:0008270	Function	Zinc ion binding	IDA	24952722, 27214403
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	IMP	28262558
GO:0009791	Process	Post-embryonic development	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0032452	Function	Histone demethylase activity	TAS
GO:0032453	Function	Histone H3K4 demethylase activity	IDA	18048344
GO:0032453	Function	Histone H3K4 demethylase activity	IEA
GO:0032453	Function	Histone H3K4 demethylase activity	IMP	24952722, 27214403, 28262558
GO:0033601	Process	Positive regulation of mammary gland epithelial cell proliferation	IEA
GO:0034647	Function	Histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IBA
GO:0034647	Function	Histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IDA	20228790
GO:0034647	Function	Histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IEA
GO:0034647	Function	Histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IMP	20403335
GO:0042393	Function	Histone binding	IDA	24952722
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12657635
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0060763	Process	Mammary duct terminal end bud growth	IEA
GO:0060992	Process	Response to fungicide	IEA
GO:0061038	Process	Uterus morphogenesis	IEA
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IMP	20403335
GO:2000864	Process	Regulation of estradiol secretion	IEA

Other IDs

• MIM: 605393
• HGNC: 18039
• e!Ensembl: ENSG00000117139

Protein

• UniProt ID: Q9UGL1
• Protein name: Lysine-specific demethylase 5B (EC 1.14.11.67) (Cancer/testis antigen 31) (CT31) (Histone demethylase JARID1B) (Jumonji/ARID domain-containing protein 1B) (PLU-1) (Retinoblastoma-binding protein 2 homolog 1) (RBP2-H1) ([histone H3]-trimethyl-L-lysine(4) d
• Protein function: Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated,
• PDB: 2MA5, 2MNY, 2MNZ, 5A1F, 5A3N, 5A3P, 5A3T, 5A3W, 5FPL, 5FPU, 5FUN, 5FUP, 5FV3, 5FY4, 5FY5, 5FY9, 5FYB, 5FYS, 5FYT, 5FYU, 5FYV, 5FYY, 5FYZ, 5FZ0, 5FZ1, 5FZ3, 5FZ4, 5FZ6, 5FZ7, 5FZ8, 5FZ9, 5FZA, 5FZB, 5FZC, 5FZD, 5FZE, 5FZF, 5FZG, 5FZH, 5FZI, 5FZK, 5FZL, 5FZM, 5LW9, 5LWB, 6EIN, 6EIU, 6EIY, 6EJ0, 6EJ1, 6EK6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02375	JmjN	33 → 66	jmjN domain	Family
  PF01388	ARID	99 → 183	ARID/BRIGHT DNA binding domain	Domain
  PF00628	PHD	311 → 359	PHD-finger	Domain
  PF02373	JmjC	486 → 602	JmjC domain, hydroxylase	Domain
  PF02928	zf-C5HC2	692 → 744	C5HC2 zinc finger	Domain
  PF08429	PLU-1	757 → 1088	PLU-1-like protein	Family
  PF00628	PHD	1178 → 1224	PHD-finger	Domain
  PF00628	PHD	1486 → 1538	PHD-finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis. Down-regulated in melanoma and glioblastoma. Up-regulated in breast cancer (at protein level). {ECO:0000269|PubMed:10336460, ECO:0000269|PubMed:10616211, ECO:0000269|PubMed:1087866
• Sequence:

  MEAATTLHPGPRPALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTG
  ICKVRPPPDWQPPFACDVDKLHFTPRIQRLNELEAQTRVKLNFLDQIAKYWELQGSTLKI
  PHVERKILDLFQLNKLVAEEGGFAVVCKDRKWTKIATKMGFAPGKAVGSHIRGHYERILN
  PYNLFLSGDSLRCLQKPNLTTDTKDKEYKPHDIPQRQSVQPSETCPPARRAKRMRAEAMN
  IKIEPEETTEARTHNLRRRMGCPTPKCENEKEMKSSIKQEPIERKDYIVENEKEKPKSRS
  KKATNAVDLYVCLLCGSGNDEDRLLLCDGCDDSYHTFCLIPPLHDVPKGDWRCPKCLAQE
  CSKPQEAFGFEQAARDYTLRTFGEMADAFKSDYFNMPVHMVPTELVEKEFWRLVSTIEED
  VTVEYGADIASKEFGSGFPVRDGKIKLSPEEEEYLDSGWNLNNMPVMEQSVLAHITADIC
  GMKLPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPGYAAEQLENVMKKLAPE
  LFVSQPDLLHQLVTIMNPNTLMTHEVPVYRTNQCAGEFVITFPRAYHSGFNQGFNFAEAV
  NFCTVDWLPLGRQCVEHYRLLHRYCVFSHDEMICKMASKADVLDVVVASTVQKDMAIMIE
  DEKALRETVRKLGVIDSERMDFELLPDDERQCVKCKTTCFMSAISCSCKPGLLVCLHHVK
  ELCSCPPYKYKLRYRYTLDDLYPMMNALKLRAESYNEWALNVNEALEAKINKKKSLVSFK
  ALIEESEMKKFPDNDLLRHLRLVTQDAEKCASVAQQLLNGKRQTRYRSGGGKSQNQLTVN
  ELRQFVTQLYALPCVLSQTPLLKDLLNRVEDFQQHSQKLLSEETPSAAELQDLLDVSFEF
  DVELPQLAEMRIRLEQARWLEEVQQACLDPSSLTLDDMRRLIDLGVGLAPYSAVEKAMAR
  LQELLTVSEHWDDKAKSLLKARPRHSLNSLATAVKEIEEIPAYLPNGAALKDSVQRARDW
  LQDVEGLQAGGRVPVLDTLIELVTRGRSIPVHLNSLPRLETLVAEVQAWKECAVNTFLTE
  NSPYSLLEVLCPRCDIGLLGLKRKQRKLKEPLPNGKKKSTKLESLSDLERALTESKETAS
  AMATLGEARLREMEALQSLRLANEGKLLSPLQDVDIKICLCQKAPAAPMIQCELCRDAFH
  TSCVAVPSISQGLRIWLCPHCRRSEKPPLEKILPLLASLQRIRVRLPEGDALRYMIERTV
  NWQHRAQQLLSSGNLKFVQDRVGSGLLYSRWQASAGQVSDTNKVSQPPGTTSFSLPDDWD
  NRTSYLHSPFSTGRSCIPLHGVSPEVNELLMEAQLLQVSLPEIQELYQTLLAKPSPAQQT
  DRSSPVRPSSEKNDCCRGKRDGINSLERKLKRRLEREGLSSERWERVKKMRTPKKKKIKL
  SHPKDMNNFKLERERSYELVRSAETHSLPSDTSYSEQEDSEDEDAICPAVSCLQPEGDEV
  DWVQCDGSCNQWFHQVCVGVSPEMAEKEDYICVRCTVKDAPSRK

• Sequence length: 1544

Pathways

Reactome:

HDMs demethylate histones
TFAP2 (AP-2) family regulates transcription of cell cycle factors

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
Intellectual disability, autosomal recessive 65	Likely pathogenic; Pathogenic	rs1287727763, rs2102232815, rs527951173, rs367833330, rs750775126, rs2527627635, rs2527627970, rs2527426205, rs2527411037, rs2527486492, rs2527565001, rs746837045, rs2527456144, rs1388990301, rs2527421668, rs1655379382, rs184475699, rs2527535804, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1558498928, rs1572705473	RCV001542642 RCV001553744 RCV004698867 RCV005931967 RCV004067578 RCV002814365 RCV003146795 RCV003146799 RCV003153175 RCV003225619 RCV003225716 RCV003759817 RCV003335839 RCV004784148 RCV003492902 RCV003989382 RCV004555978 RCV004566512 RCV000678687 RCV000678689 RCV000678690 RCV000678691 RCV000768394 RCV001007614	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KDM5B-related disorder	Likely pathogenic	rs1287727763, rs1388990301, rs2527565074, rs2527411857, rs148131534	RCV004728767 RCV004550641 RCV004550605 RCV004552445 RCV004554159	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs866525850	RCV006249811	★★★★☆ 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
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely 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	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity; 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
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	25755704		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29565495		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29602065		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	26190263		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	34573379	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28344757, 28720891, 34573379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30217758, 30902578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	24307393		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30217758		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	39202393	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23579952		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10336460, 12237901, 12530026, 12617814, 14516692, 15201984, 17363312, 17373667, 21369698, 21937684, 24412361, 24937458, 26125737, 26621457, 26917489, 30588710, 30978340, 31060229, 31776402, 31805991		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10336460, 17363312, 21821892, 21969366, 22371483, 22420752, 24937458, 26125737, 26207617, 26917489, 28138513, 29282222, 30472020, 31060229, 31776402, 31805991, 33592583, 36697763	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24412361	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30588710, 37254514	Stimulate	★☆☆☆☆ Found in Text Mining only
Camptodactyly 1	Camptodactyly	Pubtator	29276005	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20226085, 22371483, 24412361, 30092824, 36697763	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12530026		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	26125737	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28566884, 30353907, 31737652, 33355042, 37137887	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23579952		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20226085, 21546573, 25877751		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25663457	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27279483	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30215205		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25663457		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	25043185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23354547		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27635108	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	29276005		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20063376		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	25789538, 29246117		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29276005, 34573379, 35278764, 39202393	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	30217758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	34573379, 39202393	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	12530026		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	12530026		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	34573379	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37887281	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30658067		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	35278764	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25663457		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35333349	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	29276005, 34573379	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25450384, 27246838		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37254514	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29276005		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30080846		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	30080846	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32341405, 34324492	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30172777		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23354547		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28720891, 30217758, 30902578		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	34573379, 35278764, 39202393	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	26125737		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32341405	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26655717, 29565495		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26655717, 32007477	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29602065		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	26184998, 29507668		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25909289, 26911146, 28566884, 30344945, 30353907		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20226085, 21546573	Associate	★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	BEFREE	25755704		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26125737	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30092824	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30080846		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10336460, 12237901, 12530026, 12617814, 14516692, 15201984, 17363312, 17373667, 21369698, 21937684, 24412361, 24937458, 26125737, 26621457, 26917489, 30588710, 30978340, 31060229, 31776402, 31805991		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30658067		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20226085, 21546573, 25877751		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29507668, 30930371		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29928411		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18048344, 25596733		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22420752		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27874950, 31815040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	25777981		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23579952		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20226085, 20478252, 23579952, 23759590, 24098529, 24481781, 25450384, 25725450, 25789538, 25877751, 26125737, 26911146, 26917489, 27246838, 27974677, 28492139, 28827149, 29507668, 30092824, 30343192, 30353907, 30448242, 30588710, 31805991		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	27584795		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	25043185		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17363312		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21969366, 24937458, 30472020, 31805991		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	25755704		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	10616211, 15803180, 25789538		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15803180, 16645588, 23764003, 24098529, 25789538, 26967479, 29246117, 31229500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	15803180	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	16645588, 23764003, 26967479, 28143781, 29246117, 31229500, 35650266, 37308689	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	Mental retardation	CLINVAR_DG	29276005, 30217758, 30409806		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	Mental retardation	GENOMICS_ENGLAND_DG	30217758		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28262558		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28262558	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31548641	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16645588, 17363312, 17973255, 20478252, 20973793, 21369698, 21969366, 22534467, 23354547, 25450384, 25777981, 25789538, 26125737, 26911146, 27584795, 27874950, 27974677, 28492139, 29507668, 29928411, 30092824, 30353907, 31776402, 31805991		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24481781, 25951238		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25951238	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26077434, 31405577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25877751, 30092824, 31562647		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21369698, 24412361		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28492139		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29928411		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	29928411		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39239542	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	31548641	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18048344, 25596733		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18048344		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18048344	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	25596733		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36404720	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	22615382	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28720891		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35278764	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	39202393	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26184998		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22534467, 27480251, 31350278		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27584795	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25777981, 29290786		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	27584795		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27874950, 31815040		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27874950, 30412518	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	21546573	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24412361, 26917489, 31776402		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24412361	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26917489, 31776402	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20226085	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23579952, 37105962	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36212716	Associate	★☆☆☆☆ Found in Text Mining only