XYLT1 (xylosyltransferase 1)

Gene

• Entrez ID: 64131
• Gene name: Xylosyltransferase 1
• Gene symbol: XYLT1
• Synonyms (NCBI Gene): DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I
• Chromosome: 16
• Chromosome location: 16p12.3
• Summary: This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this g

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777366	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777368	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587777370	T>G	Pathogenic	Splice acceptor variant
rs769391314	C>A,T	Likely-pathogenic	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant, missense variant
rs1323802111	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1567300982	C>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051176	hsa-miR-16-5p	CLASH	23622248
MIRT1497738	hsa-let-7a	CLIP-seq
MIRT1497739	hsa-let-7b	CLIP-seq
MIRT1497740	hsa-let-7c	CLIP-seq
MIRT1497741	hsa-let-7d	CLIP-seq
MIRT1497742	hsa-let-7e	CLIP-seq
MIRT1497743	hsa-let-7f	CLIP-seq
MIRT1497744	hsa-let-7g	CLIP-seq
MIRT1497745	hsa-let-7i	CLIP-seq
MIRT1497746	hsa-miR-1185	CLIP-seq
MIRT1497747	hsa-miR-1193	CLIP-seq
MIRT1497748	hsa-miR-1226	CLIP-seq
MIRT1497749	hsa-miR-1229	CLIP-seq
MIRT1497750	hsa-miR-1255a	CLIP-seq
MIRT1497751	hsa-miR-1255b	CLIP-seq
MIRT1497752	hsa-miR-1271	CLIP-seq
MIRT1497753	hsa-miR-1273f	CLIP-seq
MIRT1497754	hsa-miR-1283	CLIP-seq
MIRT1497755	hsa-miR-136	CLIP-seq
MIRT1497756	hsa-miR-145	CLIP-seq
MIRT1497757	hsa-miR-146a	CLIP-seq
MIRT1497758	hsa-miR-146b-5p	CLIP-seq
MIRT1497759	hsa-miR-149	CLIP-seq
MIRT1497760	hsa-miR-150	CLIP-seq
MIRT1497761	hsa-miR-151-3p	CLIP-seq
MIRT1497762	hsa-miR-153	CLIP-seq
MIRT1497763	hsa-miR-15a	CLIP-seq
MIRT1497764	hsa-miR-15b	CLIP-seq
MIRT1497765	hsa-miR-16	CLIP-seq
MIRT1497766	hsa-miR-181a	CLIP-seq
MIRT1497767	hsa-miR-181b	CLIP-seq
MIRT1497768	hsa-miR-181c	CLIP-seq
MIRT1497769	hsa-miR-181d	CLIP-seq
MIRT1497770	hsa-miR-182	CLIP-seq
MIRT1497771	hsa-miR-1825	CLIP-seq
MIRT1497772	hsa-miR-185	CLIP-seq
MIRT1497773	hsa-miR-1915	CLIP-seq
MIRT1497774	hsa-miR-195	CLIP-seq
MIRT1497775	hsa-miR-199a-5p	CLIP-seq
MIRT1497776	hsa-miR-199b-5p	CLIP-seq
MIRT1497777	hsa-miR-19a	CLIP-seq
MIRT1497778	hsa-miR-19b	CLIP-seq
MIRT1497779	hsa-miR-202	CLIP-seq
MIRT1497780	hsa-miR-214	CLIP-seq
MIRT1497781	hsa-miR-2278	CLIP-seq
MIRT1497782	hsa-miR-2392	CLIP-seq
MIRT1497783	hsa-miR-2467-3p	CLIP-seq
MIRT1497784	hsa-miR-3064-3p	CLIP-seq
MIRT1497785	hsa-miR-3064-5p	CLIP-seq
MIRT1497786	hsa-miR-3120-3p	CLIP-seq
MIRT1497787	hsa-miR-3121-5p	CLIP-seq
MIRT1497788	hsa-miR-3123	CLIP-seq
MIRT1497789	hsa-miR-3134	CLIP-seq
MIRT1497790	hsa-miR-3140-5p	CLIP-seq
MIRT1497791	hsa-miR-3150b-3p	CLIP-seq
MIRT1497792	hsa-miR-3153	CLIP-seq
MIRT1497793	hsa-miR-3160-5p	CLIP-seq
MIRT1497794	hsa-miR-3162-3p	CLIP-seq
MIRT1497795	hsa-miR-3166	CLIP-seq
MIRT1497796	hsa-miR-3170	CLIP-seq
MIRT1497797	hsa-miR-3174	CLIP-seq
MIRT1497798	hsa-miR-3183	CLIP-seq
MIRT1497799	hsa-miR-3194-3p	CLIP-seq
MIRT1497800	hsa-miR-323-3p	CLIP-seq
MIRT1497801	hsa-miR-323b-5p	CLIP-seq
MIRT1497802	hsa-miR-331-3p	CLIP-seq
MIRT1497803	hsa-miR-3529	CLIP-seq
MIRT1497804	hsa-miR-3605-5p	CLIP-seq
MIRT1497805	hsa-miR-3613-3p	CLIP-seq
MIRT1497806	hsa-miR-3619-5p	CLIP-seq
MIRT1497807	hsa-miR-3622a-3p	CLIP-seq
MIRT1497808	hsa-miR-3622b-3p	CLIP-seq
MIRT1497809	hsa-miR-3664-5p	CLIP-seq
MIRT1497810	hsa-miR-3679-3p	CLIP-seq
MIRT1497811	hsa-miR-3679-5p	CLIP-seq
MIRT1497812	hsa-miR-3686	CLIP-seq
MIRT1497813	hsa-miR-3714	CLIP-seq
MIRT1497814	hsa-miR-379	CLIP-seq
MIRT1497815	hsa-miR-3921	CLIP-seq
MIRT1497816	hsa-miR-3925-3p	CLIP-seq
MIRT1497817	hsa-miR-3977	CLIP-seq
MIRT1497818	hsa-miR-409-3p	CLIP-seq
MIRT1497819	hsa-miR-424	CLIP-seq
MIRT1497820	hsa-miR-4251	CLIP-seq
MIRT1497821	hsa-miR-4257	CLIP-seq
MIRT1497822	hsa-miR-4262	CLIP-seq
MIRT1497823	hsa-miR-4291	CLIP-seq
MIRT1497824	hsa-miR-4292	CLIP-seq
MIRT1497825	hsa-miR-4306	CLIP-seq
MIRT1497826	hsa-miR-4323	CLIP-seq
MIRT1497827	hsa-miR-4328	CLIP-seq
MIRT1497828	hsa-miR-4329	CLIP-seq
MIRT1497829	hsa-miR-433	CLIP-seq
MIRT1497830	hsa-miR-4446-5p	CLIP-seq
MIRT1497831	hsa-miR-4451	CLIP-seq
MIRT1497832	hsa-miR-4458	CLIP-seq
MIRT1497833	hsa-miR-4463	CLIP-seq
MIRT1497834	hsa-miR-4468	CLIP-seq
MIRT1497835	hsa-miR-448	CLIP-seq
MIRT1497836	hsa-miR-4499	CLIP-seq
MIRT1497837	hsa-miR-4500	CLIP-seq
MIRT1497838	hsa-miR-4520a-3p	CLIP-seq
MIRT1497839	hsa-miR-4520b-3p	CLIP-seq
MIRT1497840	hsa-miR-4529-3p	CLIP-seq
MIRT1497841	hsa-miR-4536	CLIP-seq
MIRT1497842	hsa-miR-4644	CLIP-seq
MIRT1497843	hsa-miR-4649-3p	CLIP-seq
MIRT1497844	hsa-miR-4650-3p	CLIP-seq
MIRT1497845	hsa-miR-4652-3p	CLIP-seq
MIRT1497846	hsa-miR-4653-5p	CLIP-seq
MIRT1497847	hsa-miR-4684-3p	CLIP-seq
MIRT1497848	hsa-miR-4689	CLIP-seq
MIRT1497849	hsa-miR-4690-3p	CLIP-seq
MIRT1497850	hsa-miR-4693-3p	CLIP-seq
MIRT1497851	hsa-miR-4695-3p	CLIP-seq
MIRT1497852	hsa-miR-4714-5p	CLIP-seq
MIRT1497853	hsa-miR-4717-5p	CLIP-seq
MIRT1497854	hsa-miR-4720-3p	CLIP-seq
MIRT1497855	hsa-miR-4723-3p	CLIP-seq
MIRT1497856	hsa-miR-4726-3p	CLIP-seq
MIRT1497857	hsa-miR-4733-3p	CLIP-seq
MIRT1497858	hsa-miR-4753-5p	CLIP-seq
MIRT1497859	hsa-miR-4757-5p	CLIP-seq
MIRT1497860	hsa-miR-4759	CLIP-seq
MIRT1497861	hsa-miR-4765	CLIP-seq
MIRT1497862	hsa-miR-4781-3p	CLIP-seq
MIRT1497863	hsa-miR-4784	CLIP-seq
MIRT1497864	hsa-miR-4793-5p	CLIP-seq
MIRT1497865	hsa-miR-4794	CLIP-seq
MIRT1497866	hsa-miR-4796-3p	CLIP-seq
MIRT1497867	hsa-miR-485-3p	CLIP-seq
MIRT1497868	hsa-miR-487a	CLIP-seq
MIRT1497869	hsa-miR-488	CLIP-seq
MIRT1497870	hsa-miR-491-3p	CLIP-seq
MIRT1497871	hsa-miR-495	CLIP-seq
MIRT1497872	hsa-miR-497	CLIP-seq
MIRT1497873	hsa-miR-511	CLIP-seq
MIRT1497874	hsa-miR-520a-5p	CLIP-seq
MIRT1497875	hsa-miR-520d-5p	CLIP-seq
MIRT1497876	hsa-miR-520f	CLIP-seq
MIRT1497877	hsa-miR-520g	CLIP-seq
MIRT1497878	hsa-miR-520h	CLIP-seq
MIRT1497879	hsa-miR-524-5p	CLIP-seq
MIRT1497880	hsa-miR-525-5p	CLIP-seq
MIRT1497881	hsa-miR-548ac	CLIP-seq
MIRT1497882	hsa-miR-548ae	CLIP-seq
MIRT1497883	hsa-miR-548aj	CLIP-seq
MIRT1497884	hsa-miR-548am	CLIP-seq
MIRT1497885	hsa-miR-548an	CLIP-seq
MIRT1497886	hsa-miR-548d-3p	CLIP-seq
MIRT1497887	hsa-miR-548x	CLIP-seq
MIRT1497888	hsa-miR-548z	CLIP-seq
MIRT1497889	hsa-miR-580	CLIP-seq
MIRT1497890	hsa-miR-582-5p	CLIP-seq
MIRT1497891	hsa-miR-586	CLIP-seq
MIRT1497892	hsa-miR-589	CLIP-seq
MIRT1497893	hsa-miR-604	CLIP-seq
MIRT1497894	hsa-miR-647	CLIP-seq
MIRT1497895	hsa-miR-656	CLIP-seq
MIRT1497896	hsa-miR-761	CLIP-seq
MIRT1497897	hsa-miR-766	CLIP-seq
MIRT1497898	hsa-miR-767-3p	CLIP-seq
MIRT1497899	hsa-miR-885-5p	CLIP-seq
MIRT1497900	hsa-miR-9	CLIP-seq
MIRT1497901	hsa-miR-922	CLIP-seq
MIRT1497902	hsa-miR-96	CLIP-seq
MIRT1497903	hsa-miR-98	CLIP-seq
MIRT1555632	hsa-miR-1184	CLIP-seq
MIRT1555633	hsa-miR-1205	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT1497784	hsa-miR-3064-3p	CLIP-seq
MIRT1555637	hsa-miR-3158-5p	CLIP-seq
MIRT1555638	hsa-miR-3616-5p	CLIP-seq
MIRT1555639	hsa-miR-3647-5p	CLIP-seq
MIRT1555640	hsa-miR-3665	CLIP-seq
MIRT1555641	hsa-miR-3942-3p	CLIP-seq
MIRT1555642	hsa-miR-4252	CLIP-seq
MIRT1555643	hsa-miR-4635	CLIP-seq
MIRT1555644	hsa-miR-4715-3p	CLIP-seq
MIRT1497870	hsa-miR-491-3p	CLIP-seq
MIRT1555645	hsa-miR-501-3p	CLIP-seq
MIRT1555646	hsa-miR-502-3p	CLIP-seq
MIRT1555647	hsa-miR-573	CLIP-seq
MIRT1555648	hsa-miR-657	CLIP-seq
MIRT2149932	hsa-miR-1178	CLIP-seq
MIRT1555632	hsa-miR-1184	CLIP-seq
MIRT2149933	hsa-miR-1204	CLIP-seq
MIRT2149934	hsa-miR-1207-5p	CLIP-seq
MIRT2149935	hsa-miR-124	CLIP-seq
MIRT2149936	hsa-miR-1270	CLIP-seq
MIRT2149937	hsa-miR-1273g	CLIP-seq
MIRT2149938	hsa-miR-129-5p	CLIP-seq
MIRT2149939	hsa-miR-1302	CLIP-seq
MIRT2149940	hsa-miR-138	CLIP-seq
MIRT2149941	hsa-miR-1827	CLIP-seq
MIRT1497773	hsa-miR-1915	CLIP-seq
MIRT1497775	hsa-miR-199a-5p	CLIP-seq
MIRT1497776	hsa-miR-199b-5p	CLIP-seq
MIRT2149942	hsa-miR-204	CLIP-seq
MIRT2149943	hsa-miR-211	CLIP-seq
MIRT1497780	hsa-miR-214	CLIP-seq
MIRT2149944	hsa-miR-224	CLIP-seq
MIRT1497781	hsa-miR-2278	CLIP-seq
MIRT2149945	hsa-miR-24	CLIP-seq
MIRT2149946	hsa-miR-2964a-3p	CLIP-seq
MIRT2149947	hsa-miR-298	CLIP-seq
MIRT2149948	hsa-miR-299-3p	CLIP-seq
MIRT2149949	hsa-miR-302f	CLIP-seq
MIRT2149950	hsa-miR-3065-3p	CLIP-seq
MIRT2149951	hsa-miR-31	CLIP-seq
MIRT2149952	hsa-miR-3117-5p	CLIP-seq
MIRT2149953	hsa-miR-3144-5p	CLIP-seq
MIRT2149954	hsa-miR-3148	CLIP-seq
MIRT1497792	hsa-miR-3153	CLIP-seq
MIRT1497795	hsa-miR-3166	CLIP-seq
MIRT2149955	hsa-miR-3173-3p	CLIP-seq
MIRT2149956	hsa-miR-3189-3p	CLIP-seq
MIRT2149957	hsa-miR-3202	CLIP-seq
MIRT2149958	hsa-miR-330-3p	CLIP-seq
MIRT2149959	hsa-miR-34a	CLIP-seq
MIRT2149960	hsa-miR-34c-5p	CLIP-seq
MIRT2149961	hsa-miR-361-3p	CLIP-seq
MIRT1497806	hsa-miR-3619-5p	CLIP-seq
MIRT2149962	hsa-miR-3646	CLIP-seq
MIRT2149963	hsa-miR-3649	CLIP-seq
MIRT2149964	hsa-miR-3652	CLIP-seq
MIRT2149965	hsa-miR-3688-5p	CLIP-seq
MIRT2149966	hsa-miR-3689a-3p	CLIP-seq
MIRT2149967	hsa-miR-3689c	CLIP-seq
MIRT2149968	hsa-miR-3907	CLIP-seq
MIRT2149969	hsa-miR-3940-5p	CLIP-seq
MIRT2149970	hsa-miR-425	CLIP-seq
MIRT2149971	hsa-miR-4276	CLIP-seq
MIRT2149972	hsa-miR-4283	CLIP-seq
MIRT2149973	hsa-miR-4286	CLIP-seq
MIRT1497823	hsa-miR-4291	CLIP-seq
MIRT2149974	hsa-miR-4298	CLIP-seq
MIRT2149975	hsa-miR-4426	CLIP-seq
MIRT2149976	hsa-miR-4430	CLIP-seq
MIRT2149977	hsa-miR-4436b-3p	CLIP-seq
MIRT2149978	hsa-miR-4436b-5p	CLIP-seq
MIRT2149979	hsa-miR-4446-3p	CLIP-seq
MIRT2149980	hsa-miR-4490	CLIP-seq
MIRT2149981	hsa-miR-4491	CLIP-seq
MIRT2149982	hsa-miR-4492	CLIP-seq
MIRT2149983	hsa-miR-4496	CLIP-seq
MIRT2149984	hsa-miR-4498	CLIP-seq
MIRT2149985	hsa-miR-449a	CLIP-seq
MIRT2149986	hsa-miR-449b	CLIP-seq
MIRT2149987	hsa-miR-4507	CLIP-seq
MIRT2149988	hsa-miR-452	CLIP-seq
MIRT1497838	hsa-miR-4520a-3p	CLIP-seq
MIRT1497839	hsa-miR-4520b-3p	CLIP-seq
MIRT1497840	hsa-miR-4529-3p	CLIP-seq
MIRT2149989	hsa-miR-4531	CLIP-seq
MIRT2149990	hsa-miR-4533	CLIP-seq
MIRT2149991	hsa-miR-4646-5p	CLIP-seq
MIRT2149992	hsa-miR-4647	CLIP-seq
MIRT1497843	hsa-miR-4649-3p	CLIP-seq
MIRT2149993	hsa-miR-4651	CLIP-seq
MIRT2149994	hsa-miR-4657	CLIP-seq
MIRT2149995	hsa-miR-4662b	CLIP-seq
MIRT2149996	hsa-miR-4668-5p	CLIP-seq
MIRT2149997	hsa-miR-4676-3p	CLIP-seq
MIRT2149998	hsa-miR-4676-5p	CLIP-seq
MIRT2149999	hsa-miR-4685-5p	CLIP-seq
MIRT1497856	hsa-miR-4726-3p	CLIP-seq
MIRT2150000	hsa-miR-4727-5p	CLIP-seq
MIRT2150001	hsa-miR-4728-5p	CLIP-seq
MIRT1497857	hsa-miR-4733-3p	CLIP-seq
MIRT2150002	hsa-miR-4746-5p	CLIP-seq
MIRT2150003	hsa-miR-4747-5p	CLIP-seq
MIRT2150004	hsa-miR-4755-5p	CLIP-seq
MIRT2150005	hsa-miR-4763-3p	CLIP-seq
MIRT2150006	hsa-miR-4769-3p	CLIP-seq
MIRT2150007	hsa-miR-4774-5p	CLIP-seq
MIRT2150008	hsa-miR-4779	CLIP-seq
MIRT2150009	hsa-miR-4786-5p	CLIP-seq
MIRT1497868	hsa-miR-487a	CLIP-seq
MIRT2150010	hsa-miR-506	CLIP-seq
MIRT2150011	hsa-miR-508-5p	CLIP-seq
MIRT2150012	hsa-miR-548ag	CLIP-seq
MIRT2150013	hsa-miR-548ai	CLIP-seq
MIRT2150014	hsa-miR-548q	CLIP-seq
MIRT2150015	hsa-miR-549	CLIP-seq
MIRT2150016	hsa-miR-570	CLIP-seq
MIRT2150017	hsa-miR-575	CLIP-seq
MIRT2150018	hsa-miR-587	CLIP-seq
MIRT2150019	hsa-miR-602	CLIP-seq
MIRT2150020	hsa-miR-608	CLIP-seq
MIRT2150021	hsa-miR-620	CLIP-seq
MIRT2150022	hsa-miR-623	CLIP-seq
MIRT2150023	hsa-miR-629	CLIP-seq
MIRT2150024	hsa-miR-635	CLIP-seq
MIRT2150025	hsa-miR-7	CLIP-seq
MIRT2150026	hsa-miR-758	CLIP-seq
MIRT1497896	hsa-miR-761	CLIP-seq
MIRT2150027	hsa-miR-762	CLIP-seq
MIRT2150028	hsa-miR-769-5p	CLIP-seq
MIRT2150029	hsa-miR-888	CLIP-seq
MIRT1497901	hsa-miR-922	CLIP-seq
MIRT2370069	hsa-miR-101	CLIP-seq
MIRT2149932	hsa-miR-1178	CLIP-seq
MIRT1555632	hsa-miR-1184	CLIP-seq
MIRT2370070	hsa-miR-1200	CLIP-seq
MIRT1555633	hsa-miR-1205	CLIP-seq
MIRT2370071	hsa-miR-1238	CLIP-seq
MIRT2149936	hsa-miR-1270	CLIP-seq
MIRT2370072	hsa-miR-140-3p	CLIP-seq
MIRT2370073	hsa-miR-144	CLIP-seq
MIRT1497782	hsa-miR-2392	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT2149945	hsa-miR-24	CLIP-seq
MIRT2370074	hsa-miR-2467-5p	CLIP-seq
MIRT2149946	hsa-miR-2964a-3p	CLIP-seq
MIRT2149949	hsa-miR-302f	CLIP-seq
MIRT2149950	hsa-miR-3065-3p	CLIP-seq
MIRT2370075	hsa-miR-3119	CLIP-seq
MIRT2149953	hsa-miR-3144-5p	CLIP-seq
MIRT1555637	hsa-miR-3158-5p	CLIP-seq
MIRT2370076	hsa-miR-3180-5p	CLIP-seq
MIRT2149956	hsa-miR-3189-3p	CLIP-seq
MIRT2370077	hsa-miR-323b-3p	CLIP-seq
MIRT2370078	hsa-miR-3614-3p	CLIP-seq
MIRT1555638	hsa-miR-3616-5p	CLIP-seq
MIRT1555639	hsa-miR-3647-5p	CLIP-seq
MIRT2149963	hsa-miR-3649	CLIP-seq
MIRT2370079	hsa-miR-3664-3p	CLIP-seq
MIRT1555640	hsa-miR-3665	CLIP-seq
MIRT2370080	hsa-miR-3667-3p	CLIP-seq
MIRT2370081	hsa-miR-3667-5p	CLIP-seq
MIRT2149966	hsa-miR-3689a-3p	CLIP-seq
MIRT2149967	hsa-miR-3689c	CLIP-seq
MIRT1497815	hsa-miR-3921	CLIP-seq
MIRT2149970	hsa-miR-425	CLIP-seq
MIRT2370082	hsa-miR-4297	CLIP-seq
MIRT2370083	hsa-miR-432	CLIP-seq
MIRT2370084	hsa-miR-4324	CLIP-seq
MIRT2370085	hsa-miR-4514	CLIP-seq
MIRT2149989	hsa-miR-4531	CLIP-seq
MIRT2149990	hsa-miR-4533	CLIP-seq
MIRT1555643	hsa-miR-4635	CLIP-seq
MIRT1497846	hsa-miR-4653-5p	CLIP-seq
MIRT2370086	hsa-miR-4682	CLIP-seq
MIRT2149999	hsa-miR-4685-5p	CLIP-seq
MIRT2370087	hsa-miR-4692	CLIP-seq
MIRT2150001	hsa-miR-4728-5p	CLIP-seq
MIRT2150003	hsa-miR-4747-5p	CLIP-seq
MIRT2370088	hsa-miR-544b	CLIP-seq
MIRT2150016	hsa-miR-570	CLIP-seq
MIRT1555647	hsa-miR-573	CLIP-seq
MIRT2150019	hsa-miR-602	CLIP-seq
MIRT2370089	hsa-miR-603	CLIP-seq
MIRT2150021	hsa-miR-620	CLIP-seq
MIRT1555648	hsa-miR-657	CLIP-seq
MIRT2370090	hsa-miR-873	CLIP-seq
MIRT2370091	hsa-miR-942	CLIP-seq
MIRT2370069	hsa-miR-101	CLIP-seq
MIRT2370073	hsa-miR-144	CLIP-seq
MIRT2397112	hsa-miR-3177-5p	CLIP-seq
MIRT2149959	hsa-miR-34a	CLIP-seq
MIRT2149960	hsa-miR-34c-5p	CLIP-seq
MIRT2397113	hsa-miR-4459	CLIP-seq
MIRT2149985	hsa-miR-449a	CLIP-seq
MIRT2149986	hsa-miR-449b	CLIP-seq
MIRT2663881	hsa-miR-1179	CLIP-seq
MIRT2663882	hsa-miR-1245b-3p	CLIP-seq
MIRT2149938	hsa-miR-129-5p	CLIP-seq
MIRT2149940	hsa-miR-138	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT2663883	hsa-miR-320e	CLIP-seq
MIRT2149968	hsa-miR-3907	CLIP-seq
MIRT1555641	hsa-miR-3942-3p	CLIP-seq
MIRT2149971	hsa-miR-4276	CLIP-seq
MIRT2663884	hsa-miR-4422	CLIP-seq
MIRT2149988	hsa-miR-452	CLIP-seq
MIRT2149997	hsa-miR-4676-3p	CLIP-seq
MIRT2663885	hsa-miR-4777-3p	CLIP-seq
MIRT2663886	hsa-miR-503	CLIP-seq
MIRT2663887	hsa-miR-509-3p	CLIP-seq
MIRT2663888	hsa-miR-518a-5p	CLIP-seq
MIRT2663889	hsa-miR-527	CLIP-seq
MIRT2150014	hsa-miR-548q	CLIP-seq
MIRT2663881	hsa-miR-1179	CLIP-seq
MIRT2695401	hsa-miR-1228	CLIP-seq
MIRT2663882	hsa-miR-1245b-3p	CLIP-seq
MIRT1555634	hsa-miR-23a	CLIP-seq
MIRT1555635	hsa-miR-23b	CLIP-seq
MIRT1555636	hsa-miR-23c	CLIP-seq
MIRT2695402	hsa-miR-3146	CLIP-seq
MIRT1555641	hsa-miR-3942-3p	CLIP-seq
MIRT2663884	hsa-miR-4422	CLIP-seq
MIRT2663885	hsa-miR-4777-3p	CLIP-seq
MIRT2663887	hsa-miR-509-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000137	Component	Golgi cis cisterna	ISS
GO:0000139	Component	Golgi membrane	IDA	16571645
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	11087729
GO:0005794	Component	Golgi apparatus	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS	11099377
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IBA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	17189265
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030158	Function	Protein xylosyltransferase activity	IBA
GO:0030158	Function	Protein xylosyltransferase activity	IDA	11087729, 17189265, 29681470
GO:0030158	Function	Protein xylosyltransferase activity	IEA
GO:0030158	Function	Protein xylosyltransferase activity	TAS	11099377
GO:0030166	Process	Proteoglycan biosynthetic process	IDA	11087729
GO:0030166	Process	Proteoglycan biosynthetic process	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0043931	Process	Ossification involved in bone maturation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048706	Process	Embryonic skeletal system development	ISS
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IMP	17189265

Other IDs

• MIM: 608124
• HGNC: 15516
• e!Ensembl: ENSG00000103489

Protein

• UniProt ID: Q86Y38
• Protein name: Xylosyltransferase 1 (EC 2.4.2.26) (Peptide O-xylosyltransferase 1) (Xylosyltransferase I) (XT-I) (XylT-I)
• Protein function: Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:2
• PDB: 6EJ7, 6EJ8, 6EJ9, 6EJA, 6EJB, 6EJC, 6EJD, 6EJE, 6FOA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02485	Branch	328 → 583	Core-2/I-Branching enzyme	Family
  PF12529	Xylo_C	613 → 793	Xylosyltransferase C terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle. {ECO:0000269|PubMed:11099377}.
• Sequence:

  MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPA
  PAPRRERRDLPAEPAAARGGGGGGGGGGGGRGPQARARGGGPGEPRGQQPASRGALPARA
  LDPHPSPLITLETQDGYFSHRPKEKVRTDSNNENSVPKDFENVDNSNFAPRTQKQKHQPE
  LAKKPPSRQKELLKRKLEQQEKGKGHTFPGKGPGEVLPPGDRAAANSSHGKDVSRPPHAR
  KTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEIGETYCRHKLGLLMPEKVTRF
  CPLEGKANKNVQWDEDSVEYMPANPVRIAFVLVVHGRASRQLQRMFKAIYHKDHFYYIHV
  DKRSNYLHRQVLQVSRQYSNVRVTPWRMATIWGGASLLSTYLQSMRDLLEMTDWPWDFFI
  NLSAADYPIRTNDQLVAFLSRYRDMNFLKSHGRDNARFIRKQGLDRLFLECDAHMWRLGD
  RRIPEGIAVDGGSDWFLLNRRFVEYVTFSTDDLVTKMKQFYSYTLLPAESFFHTVLENSP
  HCDTMVDNNLRITNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFHRFQQTARPTFFARKF
  EAVVNQEIIGQLDYYLYGNYPAGTPGLRSYWENVYDEPDGIHSLSDVTLTLYHSFARLGL
  RRAETSLHTDGENSCRYYPMGHPASVHLYFLADRFQGFLIKHHATNLAVSKLETLETWVM
  PKKVFKIASPPSDFGRLQFSEVGTDWDAKERLFRNFGGLLGPMDEPVGMQKWGKGPNVTV
  TVIWVDPVNVIAATYDILIESTAEFTHYKPPLNLPLRPGVWTVKILHHWVPVAETKFLVA
  PLTFSNRQPIKPEEALKLHNGPLRNAYMEQSFQSLNPVLSLPINPAQVEQARRNAASTGT
  ALEGWLDSLVGGMWTAMDICATGPTACPVMQTCSQTAWSSFSPDPKSELGAVKPDGRLR

• Sequence length: 959

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
Desbuquois dysplasia 1	Pathogenic; Likely pathogenic	rs587777368, rs1320125389, rs2506152416, rs2507321527, rs2506186149, rs1323802111, rs1164720535	RCV003495110 RCV003064329 RCV002741580 RCV003494646 RCV003598386 RCV005091246 RCV001231569	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Desbuquois dysplasia 2	Pathogenic; Likely pathogenic	rs776422861, rs587777366, rs587777368, rs587777369, rs587777370, rs2033685902, rs1085307563, rs1567215600, rs1567215615, rs1567300982	RCV003225190 RCV000115033 RCV000115035 RCV000115036 RCV000115038 RCV004560497 RCV000758147 RCV000758143 RCV000758145 RCV000758146	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive inherited pseudoxanthoma elasticum	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC GRAFT VERSUS HOST DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS DYSPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XYLOSYLTRANSFERASE 1 CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XYLT1-CDG	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XYLT1-CONGENITAL DISORDER OF GLYCOSYLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XYLT1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	18294457		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	LHGDN	18294457		★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	25609184		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29157673		★☆☆☆☆ Found in Text Mining only
Barber Say syndrome	Barber Say Syndrome	BEFREE	30554721		★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	30554721		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	35005846	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	35005846	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	30554721		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17635914	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19762916	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	22479506	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	19762916	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	27773939	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	27030147		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16376579, 30685487		★☆☆☆☆ Found in Text Mining only
DESBUQUOIS DYSPLASIA 2	Desbuquois Dysplasia	UNIPROT_DG	23982343, 24581741, 28462984		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DESBUQUOIS DYSPLASIA 2	Desbuquois Dysplasia	GENOMICS_ENGLAND_DG	24581741, 30554721		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DESBUQUOIS DYSPLASIA 2	Desbuquois Dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Desbuquois syndrome	Desbuquois Syndrome	BEFREE	24581741, 27030147, 27881841, 28462984, 30847897, 31438591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desbuquois syndrome	Desbuquois Syndrome	ORPHANET_DG	24581741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desbuquois syndrome	Desbuquois syndrome	Pubtator	24581741, 30554721, 35081921, 37296099	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desbuquois syndrome	Desbuquois Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desbuquois syndrome	Desbuquois Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	16164625	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16759312, 17003309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	16164625	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	16164625, 17003309		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16759312, 17003309		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	23982343, 24581741, 26601923, 27030147, 28462984		★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gronblad-Strandberg Syndrome	Pseudoxanthoma elasticum	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37296099	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35005846	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16133423		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	37296099	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	27030147		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	25476526		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	27030147		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16164625		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	36871637	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	19690584	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	GWASCAT_DG	30014611		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27773939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	16376579, 22479506	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	26601923, 30554721		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	16133423, 16571645, 28882457		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	LHGDN	16133423		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	UNIPROT_DG	16571645		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	16571645	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum, Incomplete	Pseudoxanthoma elasticum	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	19762916	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	26601923, 30554721		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	27030147		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia Omani type	Spondyloepiphyseal dysplasia	Pubtator	24581741	Associate	★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
XYLT1-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	Congenital Disorder Of Glycosylation	ORPHANET_DG	23982343		★☆☆☆☆ Found in Text Mining only