MYSM1 (Myb like, SWIRM and MPN domains 1)

Gene

• Entrez ID: 114803
• Gene name: Myb like, SWIRM and MPN domains 1
• Gene symbol: MYSM1
• Synonyms (NCBI Gene): 2A-DUB, 2ADUB, BMFS4
• Chromosome: 1
• Chromosome location: 1p32.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1557507208	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557518298	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1569692271	T>C	Likely-pathogenic	Intron variant, splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs1569770360	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045259	hsa-miR-186-5p	CLASH	23622248
MIRT041950	hsa-miR-484	CLASH	23622248
MIRT609553	hsa-miR-8485	HITS-CLIP	23313552
MIRT609553	hsa-miR-8485	HITS-CLIP	23313552
MIRT609553	hsa-miR-8485	HITS-CLIP	23824327
MIRT609553	hsa-miR-8485	HITS-CLIP	23824327
MIRT609553	hsa-miR-8485	HITS-CLIP	23824327
MIRT609553	hsa-miR-8485	HITS-CLIP	23824327
MIRT667287	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT667286	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT609553	hsa-miR-8485	HITS-CLIP	23824327
MIRT609553	hsa-miR-8485	HITS-CLIP	23824327
MIRT609553	hsa-miR-8485	HITS-CLIP	23824327
MIRT575119	hsa-miR-8485	HITS-CLIP	27418678
MIRT575119	hsa-miR-8485	HITS-CLIP	27418678
MIRT575119	hsa-miR-8485	HITS-CLIP	23313552
MIRT575119	hsa-miR-8485	HITS-CLIP	23313552
MIRT575119	hsa-miR-8485	HITS-CLIP	23824327
MIRT575119	hsa-miR-8485	HITS-CLIP	23824327
MIRT575119	hsa-miR-8485	HITS-CLIP	23824327
MIRT575119	hsa-miR-8485	HITS-CLIP	23824327
MIRT667287	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT667286	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT575119	hsa-miR-8485	HITS-CLIP	23824327
MIRT575119	hsa-miR-8485	HITS-CLIP	23824327
MIRT575119	hsa-miR-8485	HITS-CLIP	23824327
MIRT1170495	hsa-miR-1182	CLIP-seq
MIRT1170496	hsa-miR-1202	CLIP-seq
MIRT1170497	hsa-miR-1208	CLIP-seq
MIRT1170498	hsa-miR-1252	CLIP-seq
MIRT1170499	hsa-miR-1253	CLIP-seq
MIRT1170500	hsa-miR-1270	CLIP-seq
MIRT1170501	hsa-miR-1271	CLIP-seq
MIRT1170502	hsa-miR-1272	CLIP-seq
MIRT1170503	hsa-miR-1296	CLIP-seq
MIRT1170504	hsa-miR-1297	CLIP-seq
MIRT1170505	hsa-miR-1301	CLIP-seq
MIRT1170506	hsa-miR-1303	CLIP-seq
MIRT1170507	hsa-miR-1323	CLIP-seq
MIRT1170508	hsa-miR-140-3p	CLIP-seq
MIRT1170509	hsa-miR-185	CLIP-seq
MIRT1170510	hsa-miR-1909	CLIP-seq
MIRT1170511	hsa-miR-193a-5p	CLIP-seq
MIRT1170512	hsa-miR-2110	CLIP-seq
MIRT1170513	hsa-miR-218	CLIP-seq
MIRT1170514	hsa-miR-2278	CLIP-seq
MIRT1170515	hsa-miR-2467-3p	CLIP-seq
MIRT1170516	hsa-miR-26a	CLIP-seq
MIRT1170517	hsa-miR-26b	CLIP-seq
MIRT1170518	hsa-miR-296-3p	CLIP-seq
MIRT1170519	hsa-miR-299-3p	CLIP-seq
MIRT1170520	hsa-miR-300	CLIP-seq
MIRT1170521	hsa-miR-302a	CLIP-seq
MIRT1170522	hsa-miR-302b	CLIP-seq
MIRT1170523	hsa-miR-302c	CLIP-seq
MIRT1170524	hsa-miR-302d	CLIP-seq
MIRT1170525	hsa-miR-302e	CLIP-seq
MIRT1170526	hsa-miR-3125	CLIP-seq
MIRT1170527	hsa-miR-3148	CLIP-seq
MIRT1170528	hsa-miR-3150b-3p	CLIP-seq
MIRT1170529	hsa-miR-3153	CLIP-seq
MIRT1170530	hsa-miR-3154	CLIP-seq
MIRT1170531	hsa-miR-3194-5p	CLIP-seq
MIRT1170532	hsa-miR-3200-5p	CLIP-seq
MIRT1170533	hsa-miR-3202	CLIP-seq
MIRT1170534	hsa-miR-345	CLIP-seq
MIRT1170535	hsa-miR-3545-3p	CLIP-seq
MIRT1170536	hsa-miR-3607-3p	CLIP-seq
MIRT1170537	hsa-miR-3613-3p	CLIP-seq
MIRT1170538	hsa-miR-362-5p	CLIP-seq
MIRT1170539	hsa-miR-3646	CLIP-seq
MIRT1170540	hsa-miR-3653	CLIP-seq
MIRT1170541	hsa-miR-3658	CLIP-seq
MIRT1170542	hsa-miR-3678-3p	CLIP-seq
MIRT1170543	hsa-miR-3682-3p	CLIP-seq
MIRT1170544	hsa-miR-3688-3p	CLIP-seq
MIRT1170545	hsa-miR-371-3p	CLIP-seq
MIRT1170546	hsa-miR-371b-3p	CLIP-seq
MIRT1170547	hsa-miR-372	CLIP-seq
MIRT1170548	hsa-miR-373	CLIP-seq
MIRT1170549	hsa-miR-381	CLIP-seq
MIRT1170550	hsa-miR-3908	CLIP-seq
MIRT1170551	hsa-miR-3916	CLIP-seq
MIRT1170552	hsa-miR-3919	CLIP-seq
MIRT1170553	hsa-miR-3972	CLIP-seq
MIRT1170554	hsa-miR-425	CLIP-seq
MIRT1170555	hsa-miR-4251	CLIP-seq
MIRT1170556	hsa-miR-4256	CLIP-seq
MIRT1170557	hsa-miR-4257	CLIP-seq
MIRT1170558	hsa-miR-4261	CLIP-seq
MIRT1170559	hsa-miR-4265	CLIP-seq
MIRT1170560	hsa-miR-4270	CLIP-seq
MIRT1170561	hsa-miR-4271	CLIP-seq
MIRT1170562	hsa-miR-4281	CLIP-seq
MIRT1170563	hsa-miR-4296	CLIP-seq
MIRT1170564	hsa-miR-4299	CLIP-seq
MIRT1170565	hsa-miR-4306	CLIP-seq
MIRT1170566	hsa-miR-4322	CLIP-seq
MIRT1170567	hsa-miR-4330	CLIP-seq
MIRT1170568	hsa-miR-4420	CLIP-seq
MIRT1170569	hsa-miR-4425	CLIP-seq
MIRT1170570	hsa-miR-4426	CLIP-seq
MIRT1170571	hsa-miR-4427	CLIP-seq
MIRT1170572	hsa-miR-4428	CLIP-seq
MIRT1170573	hsa-miR-4434	CLIP-seq
MIRT1170574	hsa-miR-4441	CLIP-seq
MIRT1170575	hsa-miR-4446-3p	CLIP-seq
MIRT1170576	hsa-miR-4453	CLIP-seq
MIRT1170577	hsa-miR-4465	CLIP-seq
MIRT1170578	hsa-miR-4468	CLIP-seq
MIRT1170579	hsa-miR-4470	CLIP-seq
MIRT1170580	hsa-miR-451	CLIP-seq
MIRT1170581	hsa-miR-4512	CLIP-seq
MIRT1170582	hsa-miR-4516	CLIP-seq
MIRT1170583	hsa-miR-4517	CLIP-seq
MIRT1170584	hsa-miR-452	CLIP-seq
MIRT1170585	hsa-miR-4531	CLIP-seq
MIRT1170586	hsa-miR-4533	CLIP-seq
MIRT1170587	hsa-miR-4538	CLIP-seq
MIRT1170588	hsa-miR-4644	CLIP-seq
MIRT1170589	hsa-miR-4647	CLIP-seq
MIRT1170590	hsa-miR-4648	CLIP-seq
MIRT1170591	hsa-miR-4654	CLIP-seq
MIRT1170592	hsa-miR-4660	CLIP-seq
MIRT1170593	hsa-miR-4662a-5p	CLIP-seq
MIRT1170594	hsa-miR-4662b	CLIP-seq
MIRT1170595	hsa-miR-4663	CLIP-seq
MIRT1170596	hsa-miR-4666-3p	CLIP-seq
MIRT1170597	hsa-miR-4666-5p	CLIP-seq
MIRT1170598	hsa-miR-4668-5p	CLIP-seq
MIRT1170599	hsa-miR-4675	CLIP-seq
MIRT1170600	hsa-miR-4676-3p	CLIP-seq
MIRT1170601	hsa-miR-4680-3p	CLIP-seq
MIRT1170602	hsa-miR-4689	CLIP-seq
MIRT1170603	hsa-miR-4694-3p	CLIP-seq
MIRT1170604	hsa-miR-4699-3p	CLIP-seq
MIRT1170605	hsa-miR-4710	CLIP-seq
MIRT1170606	hsa-miR-4719	CLIP-seq
MIRT1170607	hsa-miR-4725-3p	CLIP-seq
MIRT1170608	hsa-miR-4728-3p	CLIP-seq
MIRT1170609	hsa-miR-4731-3p	CLIP-seq
MIRT1170610	hsa-miR-4733-5p	CLIP-seq
MIRT1170611	hsa-miR-4741	CLIP-seq
MIRT1170612	hsa-miR-4747-5p	CLIP-seq
MIRT1170613	hsa-miR-4762-5p	CLIP-seq
MIRT1170614	hsa-miR-4765	CLIP-seq
MIRT1170615	hsa-miR-4766-3p	CLIP-seq
MIRT1170616	hsa-miR-4769-5p	CLIP-seq
MIRT1170617	hsa-miR-4784	CLIP-seq
MIRT1170618	hsa-miR-4789-3p	CLIP-seq
MIRT1170619	hsa-miR-4789-5p	CLIP-seq
MIRT1170620	hsa-miR-4790-3p	CLIP-seq
MIRT1170621	hsa-miR-4792	CLIP-seq
MIRT1170622	hsa-miR-4796-5p	CLIP-seq
MIRT1170623	hsa-miR-4801	CLIP-seq
MIRT1170624	hsa-miR-4803	CLIP-seq
MIRT1170625	hsa-miR-495	CLIP-seq
MIRT1170626	hsa-miR-500a	CLIP-seq
MIRT1170627	hsa-miR-500b	CLIP-seq
MIRT1170628	hsa-miR-5047	CLIP-seq
MIRT1170629	hsa-miR-515-3p	CLIP-seq
MIRT1170630	hsa-miR-519a	CLIP-seq
MIRT1170631	hsa-miR-519b-3p	CLIP-seq
MIRT1170632	hsa-miR-519c-3p	CLIP-seq
MIRT1170633	hsa-miR-519e	CLIP-seq
MIRT1170634	hsa-miR-520a-3p	CLIP-seq
MIRT1170635	hsa-miR-520b	CLIP-seq
MIRT1170636	hsa-miR-520c-3p	CLIP-seq
MIRT1170637	hsa-miR-520d-3p	CLIP-seq
MIRT1170638	hsa-miR-520e	CLIP-seq
MIRT1170639	hsa-miR-539	CLIP-seq
MIRT1170640	hsa-miR-548g	CLIP-seq
MIRT1170641	hsa-miR-548o	CLIP-seq
MIRT1170642	hsa-miR-548p	CLIP-seq
MIRT1170643	hsa-miR-582-5p	CLIP-seq
MIRT1170644	hsa-miR-584	CLIP-seq
MIRT1170645	hsa-miR-600	CLIP-seq
MIRT1170646	hsa-miR-605	CLIP-seq
MIRT1170647	hsa-miR-615-5p	CLIP-seq
MIRT1170648	hsa-miR-620	CLIP-seq
MIRT1170649	hsa-miR-636	CLIP-seq
MIRT1170650	hsa-miR-643	CLIP-seq
MIRT1170651	hsa-miR-767-3p	CLIP-seq
MIRT1170652	hsa-miR-769-5p	CLIP-seq
MIRT1170653	hsa-miR-875-3p	CLIP-seq
MIRT1170654	hsa-miR-943	CLIP-seq
MIRT1170655	hsa-miR-96	CLIP-seq
MIRT1920664	hsa-miR-3152-5p	CLIP-seq
MIRT1920665	hsa-miR-4267	CLIP-seq
MIRT1920666	hsa-miR-4774-3p	CLIP-seq
MIRT1920667	hsa-miR-4795-3p	CLIP-seq
MIRT1920668	hsa-miR-579	CLIP-seq
MIRT1920664	hsa-miR-3152-5p	CLIP-seq
MIRT1920665	hsa-miR-4267	CLIP-seq
MIRT1920666	hsa-miR-4774-3p	CLIP-seq
MIRT1920667	hsa-miR-4795-3p	CLIP-seq
MIRT1920668	hsa-miR-579	CLIP-seq
MIRT2049148	hsa-miR-1200	CLIP-seq
MIRT2049149	hsa-miR-1299	CLIP-seq
MIRT1170507	hsa-miR-1323	CLIP-seq
MIRT2049150	hsa-miR-136	CLIP-seq
MIRT1170509	hsa-miR-185	CLIP-seq
MIRT2049151	hsa-miR-194	CLIP-seq
MIRT2049152	hsa-miR-298	CLIP-seq
MIRT2049153	hsa-miR-3074-5p	CLIP-seq
MIRT2049154	hsa-miR-3120-3p	CLIP-seq
MIRT2049155	hsa-miR-3162-5p	CLIP-seq
MIRT2049156	hsa-miR-3163	CLIP-seq
MIRT2049157	hsa-miR-3168	CLIP-seq
MIRT2049158	hsa-miR-3199	CLIP-seq
MIRT1170533	hsa-miR-3202	CLIP-seq
MIRT1170540	hsa-miR-3653	CLIP-seq
MIRT1170541	hsa-miR-3658	CLIP-seq
MIRT1170542	hsa-miR-3678-3p	CLIP-seq
MIRT2049159	hsa-miR-377	CLIP-seq
MIRT2049160	hsa-miR-3915	CLIP-seq
MIRT2049161	hsa-miR-3928	CLIP-seq
MIRT2049162	hsa-miR-3974	CLIP-seq
MIRT1170555	hsa-miR-4251	CLIP-seq
MIRT1170558	hsa-miR-4261	CLIP-seq
MIRT1920665	hsa-miR-4267	CLIP-seq
MIRT1170565	hsa-miR-4306	CLIP-seq
MIRT2049163	hsa-miR-4326	CLIP-seq
MIRT2049164	hsa-miR-4513	CLIP-seq
MIRT2049165	hsa-miR-4528	CLIP-seq
MIRT1170586	hsa-miR-4533	CLIP-seq
MIRT1170588	hsa-miR-4644	CLIP-seq
MIRT1170601	hsa-miR-4680-3p	CLIP-seq
MIRT2049166	hsa-miR-4691-5p	CLIP-seq
MIRT1170604	hsa-miR-4699-3p	CLIP-seq
MIRT2049167	hsa-miR-4705	CLIP-seq
MIRT2049168	hsa-miR-4724-5p	CLIP-seq
MIRT2049169	hsa-miR-4725-5p	CLIP-seq
MIRT1170609	hsa-miR-4731-3p	CLIP-seq
MIRT2049170	hsa-miR-4738-3p	CLIP-seq
MIRT2049171	hsa-miR-4740-5p	CLIP-seq
MIRT2049172	hsa-miR-4780	CLIP-seq
MIRT2049173	hsa-miR-4782-5p	CLIP-seq
MIRT2049174	hsa-miR-4800-5p	CLIP-seq
MIRT1170623	hsa-miR-4801	CLIP-seq
MIRT2049175	hsa-miR-4802-5p	CLIP-seq
MIRT2049176	hsa-miR-504	CLIP-seq
MIRT2049177	hsa-miR-516b	CLIP-seq
MIRT2049178	hsa-miR-520d-5p	CLIP-seq
MIRT2049179	hsa-miR-524-5p	CLIP-seq
MIRT2049180	hsa-miR-545	CLIP-seq
MIRT1170641	hsa-miR-548o	CLIP-seq
MIRT2049181	hsa-miR-564	CLIP-seq
MIRT2049182	hsa-miR-580	CLIP-seq
MIRT2049183	hsa-miR-590-3p	CLIP-seq
MIRT2049184	hsa-miR-592	CLIP-seq
MIRT2049185	hsa-miR-597	CLIP-seq
MIRT2049186	hsa-miR-607	CLIP-seq
MIRT2049187	hsa-miR-616	CLIP-seq
MIRT2049188	hsa-miR-659	CLIP-seq
MIRT2049189	hsa-miR-711	CLIP-seq
MIRT2049190	hsa-miR-766	CLIP-seq
MIRT1170653	hsa-miR-875-3p	CLIP-seq
MIRT2049191	hsa-miR-885-5p	CLIP-seq
MIRT2049192	hsa-miR-891b	CLIP-seq
MIRT2278201	hsa-miR-103a	CLIP-seq
MIRT2278202	hsa-miR-107	CLIP-seq
MIRT2278203	hsa-miR-1179	CLIP-seq
MIRT2278204	hsa-miR-1290	CLIP-seq
MIRT2278205	hsa-miR-1291	CLIP-seq
MIRT2049149	hsa-miR-1299	CLIP-seq
MIRT2049150	hsa-miR-136	CLIP-seq
MIRT1170508	hsa-miR-140-3p	CLIP-seq
MIRT2278206	hsa-miR-141	CLIP-seq
MIRT2278207	hsa-miR-154	CLIP-seq
MIRT2278208	hsa-miR-15a	CLIP-seq
MIRT2278209	hsa-miR-15b	CLIP-seq
MIRT2278210	hsa-miR-16	CLIP-seq
MIRT2049151	hsa-miR-194	CLIP-seq
MIRT2278211	hsa-miR-195	CLIP-seq
MIRT2278212	hsa-miR-200a	CLIP-seq
MIRT2278213	hsa-miR-2052	CLIP-seq
MIRT1170515	hsa-miR-2467-3p	CLIP-seq
MIRT1170519	hsa-miR-299-3p	CLIP-seq
MIRT2049153	hsa-miR-3074-5p	CLIP-seq
MIRT2049154	hsa-miR-3120-3p	CLIP-seq
MIRT2278214	hsa-miR-3121-3p	CLIP-seq
MIRT2278215	hsa-miR-3121-5p	CLIP-seq
MIRT2278216	hsa-miR-3123	CLIP-seq
MIRT2278217	hsa-miR-3129-3p	CLIP-seq
MIRT1170527	hsa-miR-3148	CLIP-seq
MIRT1170528	hsa-miR-3150b-3p	CLIP-seq
MIRT1170530	hsa-miR-3154	CLIP-seq
MIRT2278218	hsa-miR-3167	CLIP-seq
MIRT2049157	hsa-miR-3168	CLIP-seq
MIRT2278219	hsa-miR-3179	CLIP-seq
MIRT2278220	hsa-miR-3192	CLIP-seq
MIRT1170533	hsa-miR-3202	CLIP-seq
MIRT2278221	hsa-miR-320a	CLIP-seq
MIRT2278222	hsa-miR-320b	CLIP-seq
MIRT2278223	hsa-miR-320c	CLIP-seq
MIRT2278224	hsa-miR-320d	CLIP-seq
MIRT2278225	hsa-miR-323-3p	CLIP-seq
MIRT2278226	hsa-miR-323-5p	CLIP-seq
MIRT2278227	hsa-miR-34b	CLIP-seq
MIRT1170535	hsa-miR-3545-3p	CLIP-seq
MIRT1170536	hsa-miR-3607-3p	CLIP-seq
MIRT1170537	hsa-miR-3613-3p	CLIP-seq
MIRT1170539	hsa-miR-3646	CLIP-seq
MIRT1170540	hsa-miR-3653	CLIP-seq
MIRT1170541	hsa-miR-3658	CLIP-seq
MIRT2278228	hsa-miR-3665	CLIP-seq
MIRT2278229	hsa-miR-3672	CLIP-seq
MIRT1170542	hsa-miR-3678-3p	CLIP-seq
MIRT2278230	hsa-miR-3714	CLIP-seq
MIRT2278231	hsa-miR-376a	CLIP-seq
MIRT2278232	hsa-miR-376b	CLIP-seq
MIRT2049159	hsa-miR-377	CLIP-seq
MIRT1170550	hsa-miR-3908	CLIP-seq
MIRT2278233	hsa-miR-3913-3p	CLIP-seq
MIRT2049160	hsa-miR-3915	CLIP-seq
MIRT2278234	hsa-miR-3925-5p	CLIP-seq
MIRT2278235	hsa-miR-3934	CLIP-seq
MIRT2049162	hsa-miR-3974	CLIP-seq
MIRT2278236	hsa-miR-3976	CLIP-seq
MIRT2278237	hsa-miR-3978	CLIP-seq
MIRT2278238	hsa-miR-424	CLIP-seq
MIRT1170558	hsa-miR-4261	CLIP-seq
MIRT1920665	hsa-miR-4267	CLIP-seq
MIRT1170560	hsa-miR-4270	CLIP-seq
MIRT2278239	hsa-miR-4289	CLIP-seq
MIRT2278240	hsa-miR-4300	CLIP-seq
MIRT2278241	hsa-miR-4310	CLIP-seq
MIRT2049163	hsa-miR-4326	CLIP-seq
MIRT1170567	hsa-miR-4330	CLIP-seq
MIRT2278242	hsa-miR-4422	CLIP-seq
MIRT1170572	hsa-miR-4428	CLIP-seq
MIRT2278243	hsa-miR-4429	CLIP-seq
MIRT1170573	hsa-miR-4434	CLIP-seq
MIRT1170574	hsa-miR-4441	CLIP-seq
MIRT1170575	hsa-miR-4446-3p	CLIP-seq
MIRT2278244	hsa-miR-4463	CLIP-seq
MIRT2278245	hsa-miR-4484	CLIP-seq
MIRT2278246	hsa-miR-4491	CLIP-seq
MIRT1170582	hsa-miR-4516	CLIP-seq
MIRT2049165	hsa-miR-4528	CLIP-seq
MIRT1170586	hsa-miR-4533	CLIP-seq
MIRT2278247	hsa-miR-4540	CLIP-seq
MIRT2278248	hsa-miR-4657	CLIP-seq
MIRT1170599	hsa-miR-4675	CLIP-seq
MIRT1170602	hsa-miR-4689	CLIP-seq
MIRT2049166	hsa-miR-4691-5p	CLIP-seq
MIRT1170604	hsa-miR-4699-3p	CLIP-seq
MIRT2049167	hsa-miR-4705	CLIP-seq
MIRT1170609	hsa-miR-4731-3p	CLIP-seq
MIRT2278249	hsa-miR-4736	CLIP-seq
MIRT2049170	hsa-miR-4738-3p	CLIP-seq
MIRT1170611	hsa-miR-4741	CLIP-seq
MIRT1170612	hsa-miR-4747-5p	CLIP-seq
MIRT2278250	hsa-miR-4775	CLIP-seq
MIRT2049173	hsa-miR-4782-5p	CLIP-seq
MIRT1170617	hsa-miR-4784	CLIP-seq
MIRT1170620	hsa-miR-4790-3p	CLIP-seq
MIRT2278251	hsa-miR-4797-5p	CLIP-seq
MIRT1170623	hsa-miR-4801	CLIP-seq
MIRT2049175	hsa-miR-4802-5p	CLIP-seq
MIRT1170624	hsa-miR-4803	CLIP-seq
MIRT2278252	hsa-miR-497	CLIP-seq
MIRT2278253	hsa-miR-515-5p	CLIP-seq
MIRT2049177	hsa-miR-516b	CLIP-seq
MIRT2049178	hsa-miR-520d-5p	CLIP-seq
MIRT2049179	hsa-miR-524-5p	CLIP-seq
MIRT2278254	hsa-miR-541	CLIP-seq
MIRT2049180	hsa-miR-545	CLIP-seq
MIRT2278255	hsa-miR-548an	CLIP-seq
MIRT2278256	hsa-miR-548b-3p	CLIP-seq
MIRT2278257	hsa-miR-548n	CLIP-seq
MIRT2278258	hsa-miR-548t	CLIP-seq
MIRT2049183	hsa-miR-590-3p	CLIP-seq
MIRT2049184	hsa-miR-592	CLIP-seq
MIRT2049185	hsa-miR-597	CLIP-seq
MIRT2049187	hsa-miR-616	CLIP-seq
MIRT2278259	hsa-miR-654-5p	CLIP-seq
MIRT2049188	hsa-miR-659	CLIP-seq
MIRT2049190	hsa-miR-766	CLIP-seq
MIRT1170651	hsa-miR-767-3p	CLIP-seq
MIRT1170652	hsa-miR-769-5p	CLIP-seq
MIRT1170653	hsa-miR-875-3p	CLIP-seq
MIRT2278260	hsa-miR-876-3p	CLIP-seq
MIRT2278261	hsa-miR-876-5p	CLIP-seq
MIRT2049191	hsa-miR-885-5p	CLIP-seq
MIRT2278262	hsa-miR-920	CLIP-seq
MIRT2278263	hsa-miR-940	CLIP-seq
MIRT1170555	hsa-miR-4251	CLIP-seq
MIRT2049182	hsa-miR-580	CLIP-seq
MIRT1170555	hsa-miR-4251	CLIP-seq
MIRT2049182	hsa-miR-580	CLIP-seq
MIRT1170555	hsa-miR-4251	CLIP-seq
MIRT2049182	hsa-miR-580	CLIP-seq
MIRT2576565	hsa-miR-1185	CLIP-seq
MIRT2576566	hsa-miR-1193	CLIP-seq
MIRT2049148	hsa-miR-1200	CLIP-seq
MIRT1170497	hsa-miR-1208	CLIP-seq
MIRT2576567	hsa-miR-1224-5p	CLIP-seq
MIRT2576568	hsa-miR-1243	CLIP-seq
MIRT1170498	hsa-miR-1252	CLIP-seq
MIRT2576569	hsa-miR-125a-3p	CLIP-seq
MIRT2576570	hsa-miR-127-5p	CLIP-seq
MIRT2576571	hsa-miR-1284	CLIP-seq
MIRT2576572	hsa-miR-129-5p	CLIP-seq
MIRT1170504	hsa-miR-1297	CLIP-seq
MIRT2576573	hsa-miR-1304	CLIP-seq
MIRT2576574	hsa-miR-135a	CLIP-seq
MIRT2576575	hsa-miR-135b	CLIP-seq
MIRT2576576	hsa-miR-1587	CLIP-seq
MIRT2049151	hsa-miR-194	CLIP-seq
MIRT2576577	hsa-miR-203	CLIP-seq
MIRT2278213	hsa-miR-2052	CLIP-seq
MIRT2576578	hsa-miR-2113	CLIP-seq
MIRT2576579	hsa-miR-2117	CLIP-seq
MIRT1170516	hsa-miR-26a	CLIP-seq
MIRT1170517	hsa-miR-26b	CLIP-seq
MIRT2576580	hsa-miR-297	CLIP-seq
MIRT1170520	hsa-miR-300	CLIP-seq
MIRT1170521	hsa-miR-302a	CLIP-seq
MIRT1170522	hsa-miR-302b	CLIP-seq
MIRT1170523	hsa-miR-302c	CLIP-seq
MIRT1170524	hsa-miR-302d	CLIP-seq
MIRT1170525	hsa-miR-302e	CLIP-seq
MIRT2049153	hsa-miR-3074-5p	CLIP-seq
MIRT2576581	hsa-miR-3120-5p	CLIP-seq
MIRT2278215	hsa-miR-3121-5p	CLIP-seq
MIRT2278217	hsa-miR-3129-3p	CLIP-seq
MIRT2576582	hsa-miR-3140-5p	CLIP-seq
MIRT2576583	hsa-miR-3145-3p	CLIP-seq
MIRT2576584	hsa-miR-3149	CLIP-seq
MIRT2576585	hsa-miR-3152-3p	CLIP-seq
MIRT2049157	hsa-miR-3168	CLIP-seq
MIRT1170532	hsa-miR-3200-5p	CLIP-seq
MIRT2576586	hsa-miR-323b-3p	CLIP-seq
MIRT2576587	hsa-miR-330-3p	CLIP-seq
MIRT2576588	hsa-miR-346	CLIP-seq
MIRT2576589	hsa-miR-34c-3p	CLIP-seq
MIRT2576590	hsa-miR-3605-5p	CLIP-seq
MIRT2576591	hsa-miR-3607-5p	CLIP-seq
MIRT1170538	hsa-miR-362-5p	CLIP-seq
MIRT1170541	hsa-miR-3658	CLIP-seq
MIRT2576592	hsa-miR-3663-3p	CLIP-seq
MIRT2576593	hsa-miR-3679-5p	CLIP-seq
MIRT2576594	hsa-miR-3680	CLIP-seq
MIRT1170544	hsa-miR-3688-3p	CLIP-seq
MIRT2576595	hsa-miR-371-5p	CLIP-seq
MIRT1170547	hsa-miR-372	CLIP-seq
MIRT1170548	hsa-miR-373	CLIP-seq
MIRT2576596	hsa-miR-378g	CLIP-seq
MIRT2576597	hsa-miR-380	CLIP-seq
MIRT1170549	hsa-miR-381	CLIP-seq
MIRT2576598	hsa-miR-3907	CLIP-seq
MIRT2049160	hsa-miR-3915	CLIP-seq
MIRT1170552	hsa-miR-3919	CLIP-seq
MIRT2576599	hsa-miR-3920	CLIP-seq
MIRT2278235	hsa-miR-3934	CLIP-seq
MIRT2576600	hsa-miR-3940-5p	CLIP-seq
MIRT2576601	hsa-miR-3942-3p	CLIP-seq
MIRT1170555	hsa-miR-4251	CLIP-seq
MIRT1170562	hsa-miR-4281	CLIP-seq
MIRT2576602	hsa-miR-4282	CLIP-seq
MIRT2576603	hsa-miR-4288	CLIP-seq
MIRT1170568	hsa-miR-4420	CLIP-seq
MIRT1170569	hsa-miR-4425	CLIP-seq
MIRT1170571	hsa-miR-4427	CLIP-seq
MIRT1170577	hsa-miR-4465	CLIP-seq
MIRT2576604	hsa-miR-4490	CLIP-seq
MIRT2576605	hsa-miR-4492	CLIP-seq
MIRT2576606	hsa-miR-4495	CLIP-seq
MIRT2576607	hsa-miR-4496	CLIP-seq
MIRT2576608	hsa-miR-4498	CLIP-seq
MIRT2576609	hsa-miR-4507	CLIP-seq
MIRT1170584	hsa-miR-452	CLIP-seq
MIRT1170586	hsa-miR-4533	CLIP-seq
MIRT2576610	hsa-miR-4639-3p	CLIP-seq
MIRT2576611	hsa-miR-4656	CLIP-seq
MIRT2576612	hsa-miR-4662a-3p	CLIP-seq
MIRT1170596	hsa-miR-4666-3p	CLIP-seq
MIRT1170597	hsa-miR-4666-5p	CLIP-seq
MIRT1170599	hsa-miR-4675	CLIP-seq
MIRT1170600	hsa-miR-4676-3p	CLIP-seq
MIRT2576613	hsa-miR-4685-5p	CLIP-seq
MIRT2576614	hsa-miR-4687-3p	CLIP-seq
MIRT2576615	hsa-miR-4687-5p	CLIP-seq
MIRT1170602	hsa-miR-4689	CLIP-seq
MIRT2576616	hsa-miR-4690-3p	CLIP-seq
MIRT1170603	hsa-miR-4694-3p	CLIP-seq
MIRT2049170	hsa-miR-4738-3p	CLIP-seq
MIRT1170611	hsa-miR-4741	CLIP-seq
MIRT1170612	hsa-miR-4747-5p	CLIP-seq
MIRT2576617	hsa-miR-4760-5p	CLIP-seq
MIRT2576618	hsa-miR-4761-3p	CLIP-seq
MIRT2576619	hsa-miR-4766-5p	CLIP-seq
MIRT2576620	hsa-miR-4768-5p	CLIP-seq
MIRT2278250	hsa-miR-4775	CLIP-seq
MIRT2576621	hsa-miR-4778-3p	CLIP-seq
MIRT1170620	hsa-miR-4790-3p	CLIP-seq
MIRT1170622	hsa-miR-4796-5p	CLIP-seq
MIRT2576622	hsa-miR-4802-3p	CLIP-seq
MIRT2576623	hsa-miR-488	CLIP-seq
MIRT1170625	hsa-miR-495	CLIP-seq
MIRT1170626	hsa-miR-500a	CLIP-seq
MIRT1170627	hsa-miR-500b	CLIP-seq
MIRT2576624	hsa-miR-510	CLIP-seq
MIRT1170630	hsa-miR-519a	CLIP-seq
MIRT1170631	hsa-miR-519b-3p	CLIP-seq
MIRT1170632	hsa-miR-519c-3p	CLIP-seq
MIRT1170634	hsa-miR-520a-3p	CLIP-seq
MIRT1170635	hsa-miR-520b	CLIP-seq
MIRT1170636	hsa-miR-520c-3p	CLIP-seq
MIRT1170637	hsa-miR-520d-3p	CLIP-seq
MIRT2049178	hsa-miR-520d-5p	CLIP-seq
MIRT1170638	hsa-miR-520e	CLIP-seq
MIRT2049179	hsa-miR-524-5p	CLIP-seq
MIRT1170639	hsa-miR-539	CLIP-seq
MIRT2576625	hsa-miR-548c-3p	CLIP-seq
MIRT1170642	hsa-miR-548p	CLIP-seq
MIRT2049182	hsa-miR-580	CLIP-seq
MIRT2576626	hsa-miR-582-3p	CLIP-seq
MIRT2049183	hsa-miR-590-3p	CLIP-seq
MIRT2576627	hsa-miR-626	CLIP-seq
MIRT2576628	hsa-miR-628-5p	CLIP-seq
MIRT2576629	hsa-miR-629	CLIP-seq
MIRT2576630	hsa-miR-632	CLIP-seq
MIRT2576631	hsa-miR-7	CLIP-seq
MIRT2576632	hsa-miR-758	CLIP-seq
MIRT2576633	hsa-miR-762	CLIP-seq
MIRT2576634	hsa-miR-764	CLIP-seq
MIRT2576635	hsa-miR-944	CLIP-seq
MIRT2576565	hsa-miR-1185	CLIP-seq
MIRT2576566	hsa-miR-1193	CLIP-seq
MIRT2576567	hsa-miR-1224-5p	CLIP-seq
MIRT2576568	hsa-miR-1243	CLIP-seq
MIRT1170498	hsa-miR-1252	CLIP-seq
MIRT2576569	hsa-miR-125a-3p	CLIP-seq
MIRT2576570	hsa-miR-127-5p	CLIP-seq
MIRT2576572	hsa-miR-129-5p	CLIP-seq
MIRT1170504	hsa-miR-1297	CLIP-seq
MIRT2576573	hsa-miR-1304	CLIP-seq
MIRT2576574	hsa-miR-135a	CLIP-seq
MIRT2576575	hsa-miR-135b	CLIP-seq
MIRT2576576	hsa-miR-1587	CLIP-seq
MIRT2049151	hsa-miR-194	CLIP-seq
MIRT2685706	hsa-miR-2116	CLIP-seq
MIRT1170516	hsa-miR-26a	CLIP-seq
MIRT1170517	hsa-miR-26b	CLIP-seq
MIRT2576581	hsa-miR-3120-5p	CLIP-seq
MIRT2576582	hsa-miR-3140-5p	CLIP-seq
MIRT2576585	hsa-miR-3152-3p	CLIP-seq
MIRT1170532	hsa-miR-3200-5p	CLIP-seq
MIRT2576586	hsa-miR-323b-3p	CLIP-seq
MIRT2576587	hsa-miR-330-3p	CLIP-seq
MIRT2576588	hsa-miR-346	CLIP-seq
MIRT2576590	hsa-miR-3605-5p	CLIP-seq
MIRT2576591	hsa-miR-3607-5p	CLIP-seq
MIRT1170538	hsa-miR-362-5p	CLIP-seq
MIRT2576593	hsa-miR-3679-5p	CLIP-seq
MIRT2576594	hsa-miR-3680	CLIP-seq
MIRT2576596	hsa-miR-378g	CLIP-seq
MIRT2576597	hsa-miR-380	CLIP-seq
MIRT2576598	hsa-miR-3907	CLIP-seq
MIRT2049160	hsa-miR-3915	CLIP-seq
MIRT2576599	hsa-miR-3920	CLIP-seq
MIRT2278235	hsa-miR-3934	CLIP-seq
MIRT2576601	hsa-miR-3942-3p	CLIP-seq
MIRT1170555	hsa-miR-4251	CLIP-seq
MIRT1170558	hsa-miR-4261	CLIP-seq
MIRT1170562	hsa-miR-4281	CLIP-seq
MIRT2576602	hsa-miR-4282	CLIP-seq
MIRT2576603	hsa-miR-4288	CLIP-seq
MIRT1170569	hsa-miR-4425	CLIP-seq
MIRT1170571	hsa-miR-4427	CLIP-seq
MIRT1170577	hsa-miR-4465	CLIP-seq
MIRT2576605	hsa-miR-4492	CLIP-seq
MIRT2576606	hsa-miR-4495	CLIP-seq
MIRT2576607	hsa-miR-4496	CLIP-seq
MIRT2576608	hsa-miR-4498	CLIP-seq
MIRT1170580	hsa-miR-451	CLIP-seq
MIRT1170586	hsa-miR-4533	CLIP-seq
MIRT2576611	hsa-miR-4656	CLIP-seq
MIRT1170599	hsa-miR-4675	CLIP-seq
MIRT1170602	hsa-miR-4689	CLIP-seq
MIRT2049170	hsa-miR-4738-3p	CLIP-seq
MIRT1170611	hsa-miR-4741	CLIP-seq
MIRT1170612	hsa-miR-4747-5p	CLIP-seq
MIRT2576617	hsa-miR-4760-5p	CLIP-seq
MIRT2576619	hsa-miR-4766-5p	CLIP-seq
MIRT2576621	hsa-miR-4778-3p	CLIP-seq
MIRT1170620	hsa-miR-4790-3p	CLIP-seq
MIRT1170622	hsa-miR-4796-5p	CLIP-seq
MIRT2576623	hsa-miR-488	CLIP-seq
MIRT1170625	hsa-miR-495	CLIP-seq
MIRT1170626	hsa-miR-500a	CLIP-seq
MIRT1170627	hsa-miR-500b	CLIP-seq
MIRT2576624	hsa-miR-510	CLIP-seq
MIRT2049178	hsa-miR-520d-5p	CLIP-seq
MIRT2049179	hsa-miR-524-5p	CLIP-seq
MIRT1170639	hsa-miR-539	CLIP-seq
MIRT2576625	hsa-miR-548c-3p	CLIP-seq
MIRT1170642	hsa-miR-548p	CLIP-seq
MIRT2685707	hsa-miR-561	CLIP-seq
MIRT2049182	hsa-miR-580	CLIP-seq
MIRT2576627	hsa-miR-626	CLIP-seq
MIRT2576628	hsa-miR-628-5p	CLIP-seq
MIRT2576630	hsa-miR-632	CLIP-seq
MIRT2576633	hsa-miR-762	CLIP-seq
MIRT2576634	hsa-miR-764	CLIP-seq
MIRT2576635	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	17707232
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	17707232
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IMP	17707232
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0032991	Component	Protein-containing complex	IPI	17707232
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	17707232
GO:0043473	Process	Pigmentation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17707232
GO:0046872	Function	Metal ion binding	IEA
GO:0051797	Process	Regulation of hair follicle development	IEA
GO:0140492	Function	Metal-dependent deubiquitinase activity	IDA	17707232
GO:0140492	Function	Metal-dependent deubiquitinase activity	IEA
GO:0140950	Function	Histone H2A deubiquitinase activity	IMP	17707232
GO:1903706	Process	Regulation of hemopoiesis	IMP	26220525

Other IDs

• MIM: 612176
• HGNC: 29401
• e!Ensembl: ENSG00000162601

Protein

• UniProt ID: Q5VVJ2
• Protein name: Deubiquitinase MYSM1 (2A-DUB) (EC 3.4.19.-) (Myb-like, SWIRM and MPN domain-containing protein 1)
• Protein function: Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubMed:28115216). Participates in the normal prog
• PDB: 2CU7, 2DCE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00249	Myb_DNA-binding	118 → 163	Myb-like DNA-binding domain	Domain
  PF04433	SWIRM	375 → 461	SWIRM domain	Domain
  PF01398	JAB	572 → 682	JAB1/Mov34/MPN/PAD-1 ubiquitin protease	Family

• Sequence:

  MAAEEADVDIEGDVVAAAGAQPGSGENTASVLQKDHYLDSSWRTENGLIPWTLDNTISEE
  NRAVIEKMLLEEEYYLSKKSQPEKVWLDQKEDDKKYMKSLQKTAKIMVHSPTKPASYSVK
  WTIEEKELFEQGLAKFGRRWTKISKLIGSRTVLQVKSYARQYFKNKVKCGLDKETPNQKT
  GHNLQVKNEDKGTKAWTPSCLRGRADPNLNAVKIEKLSDDEEVDITDEVDELSSQTPQKN
  SSSDLLLDFPNSKMHETNQGEFITSDSQEALFSKSSRGCLQNEKQDETLSSSEITLWTEK
  QSNGDKKSIELNDQKFNELIKNCNKHDGRGIIVDARQLPSPEPCEIQKNLNDNEMLFHSC
  QMVEESHEEEELKPPEQEIEIDRNIIQEEEKQAIPEFFEGRQAKTPERYLKIRNYILDQW
  EICKPKYLNKTSVRPGLKNCGDVNCIGRIHTYLELIGAINFGCEQAVYNRPQTVDKVRIR
  DRKDAVEAYQLAQRLQSMRTRRRRVRDPWGNWCDAKDLEGQTFEHLSAEELAKRREEEKG
  RPVKSLKVPRPTKSSFDPFQLIPCNFFSEEKQEPFQVKVASEALLIMDLHAHVSMAEVIG
  LLGGRYSEVDKVVEVCAAEPCNSLSTGLQCEMDPVSQTQASETLAVRGFSVIGWYHSHPA
  FDPNPSLRDIDTQAKYQSYFSRGGAKFIGMIVSPYNRNNPLPYSQITCLVISEEISPDGS
  YRLPYKFEVQQMLEEPQWGLVFEKTRWIIEKYRLSHSSVPMDKIFRRDSDLTCLQKLLEC
  MRKTLSKVTNCFMAEEFLTEIENLFLSNYKSNQENGVTEENCTKELLM

• Sequence length: 828

Pathways

Reactome:

Metalloprotease DUBs

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
Bone marrow failure syndrome 4	Pathogenic; Likely pathogenic	rs1644486654, rs201886018, rs780757165, rs2524280386, rs866468317, rs1557518298, rs1557507208, rs1569770360	RCV001332802 RCV003120803 RCV002470248 RCV003148427 RCV003228194 RCV000680224 RCV000680225 RCV000995816	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs201886018	RCV005925640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYSM1-related disorder	Likely pathogenic	rs201886018	RCV003418340	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PROGRESSIVE BONE MARROW FAILURE, B-CELL IMMUNODEFICIENCY, SKELETAL DYSPLASIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETIC RETINOPATHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agammaglobulinemia	Agammaglobulinemia	Pubtator	38065233	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
BONE MARROW FAILURE SYNDROME 4	Bone Marrow Diseases	UNIPROT_DG	24288411, 26220525, 28115216		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BONE MARROW FAILURE SYNDROME 4	Bone Marrow Diseases	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BONE MARROW FAILURE SYNDROME 4	Bone Marrow Diseases	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28498834, 29020094		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28498834	Associate	★☆☆☆☆ Found in Text Mining only
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	Congenital Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes	Diabetes	BEFREE	21310492		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21310492		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27863428	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21310492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	GWASDB_DG	21310492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	GWASCAT_DG	21310492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	38065233	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	GENOMICS_ENGLAND_DG	26474655		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30895711		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31761786		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28978033		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	30746751		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30746751		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28498834, 28978033, 30895711		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29203593		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	26474655		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	28115216		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	30746751		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31761786		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	31761786		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29656179		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	34440387	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	38065233	Associate	★☆☆☆☆ Found in Text Mining only