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KDM5B (lysine demethylase 5B)

Gene

10765

Lysine demethylase 5B

KDM5B

CT31, JARID1B, MRT65, PLU-1, PLU1, PPP1R98, PUT1, RBBP2H1A, RBP2-H1

1q32.1

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

Show/Hide all(7)

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

Show/Hide all(627)

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

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IDA	15640446
GO:0003714	Function	Transcription corepressor activity	IDA	12657635
GO:0005515	Function	Protein binding	IPI	12657635, 24937458
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	20403335
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006338	Process	Chromatin remodeling	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS
GO:0007338	Process	Single fertilization	IEA
GO:0008270	Function	Zinc ion binding	IDA	24952722, 27214403
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:0032452	Function	Histone demethylase activity	IBA	21873635
GO:0032453	Function	Histone demethylase activity (H3-K4 specific)	IDA	18048344
GO:0032453	Function	Histone demethylase activity (H3-K4 specific)	IMP	24952722, 27214403, 28262558
GO:0033601	Process	Positive regulation of mammary gland epithelial cell proliferation	IEA
GO:0034647	Function	Histone demethylase activity (H3-trimethyl-K4 specific)	IBA	21873635
GO:0034647	Function	Histone demethylase activity (H3-trimethyl-K4 specific)	IDA	20228790
GO:0034647	Function	Histone demethylase activity (H3-trimethyl-K4 specific)	IMP	20403335
GO:0034648	Function	Histone demethylase activity (H3-dimethyl-K4 specific)	IDA	20228790
GO:0034720	Process	Histone H3-K4 demethylation	IDA	20228790
GO:0034720	Process	Histone H3-K4 demethylation	IMP	24952722, 27214403, 28262558
GO:0034721	Process	Histone H3-K4 demethylation, trimethyl-H3-K4-specific	IEA
GO:0042393	Function	Histone binding	IDA	24952722
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	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

MIM	HGNC	e!Ensembl
605393	18039	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

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

Interactions

View interactions

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

Associated diseases

Show/Hide Causal Diseases (11)

Causal
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	24307393
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	25043185
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	30217758, 30409806, 29276005
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability, Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (17)

Unknown
Disease name	Disease term	dbSNP ID	References
Absence of septum pellucidum	Absence of septum pellucidum
Astigmatism	Astigmatism
Central visual impairment	Central visual impairment
Cerebral atrophy	Cerebral atrophy
Cortical dysplasia	Cortical Dysplasia
Dolichocephaly	Long narrow head
Dyskinetic syndrome	Dyskinetic syndrome
Dyssomnia	Dyssomnias
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Hypospadias	Hypospadias
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Ptosis	Blepharoptosis, Ptosis	rs139920573
Salaam seizures	Salaam Seizures
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior
Strabismus	Strabismus

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