MYO6 (myosin VI)

Gene

• Entrez ID: 4646
• Gene name: Myosin VI
• Gene symbol: MYO6
• Synonyms (NCBI Gene): DFNA22, DFNB37
• Chromosome: 6
• Chromosome location: 6q14.1
• Summary: This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912557	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121912558	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs121912560	A>G	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121912561	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs139664153	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs141845119	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs145564837	C>T	Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs397517045	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs551348450	A>-,AA	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs727503326	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs727504548	G>C	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs727504567	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs727504743	AGA>-,AGAAGA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, inframe deletion, inframe insertion, genic downstream transcript variant
rs727505015	TGCTGG>ATCCTACATACTTAAAATTTCTT	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs766700803	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs876657653	C>A,T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs876657709	AA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs876657710	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs878853225	GGT>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant, non coding transcript variant
rs1057523846	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060499799	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1554204415	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554205683	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554207040	CATTTG>AA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554214085	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554218566	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1562201376	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562283089	T>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1582024232	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1583208411	TT>CTTTACTAAA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000458	hsa-miR-143-3p	qRT-PCR, Luciferase reporter assay, Western blot	20353999
MIRT000457	hsa-miR-145-5p	qRT-PCR, Luciferase reporter assay, Western blot	20353999
MIRT018339	hsa-miR-335-5p	Microarray	18185580
MIRT020824	hsa-miR-155-5p	Proteomics	18668040
MIRT000458	hsa-miR-143-3p	Western blot	19843160
MIRT050462	hsa-miR-22-3p	CLASH	23622248
MIRT049595	hsa-miR-92a-3p	CLASH	23622248
MIRT044611	hsa-miR-320a	CLASH	23622248
MIRT042992	hsa-miR-324-3p	CLASH	23622248
MIRT437597	hsa-miR-140-5p	Microarray, qRT-PCR	22815788
MIRT437617	hsa-miR-146a-5p	Microarray, qRT-PCR	22815788
MIRT437623	hsa-miR-146b-5p	Microarray, qRT-PCR	22815788
MIRT722391	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT722390	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT631533	hsa-miR-1264	HITS-CLIP	23824327
MIRT631532	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT631531	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT631530	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT631529	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT631528	hsa-miR-6131	HITS-CLIP	23824327
MIRT631527	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT631526	hsa-miR-548s	HITS-CLIP	23824327
MIRT631525	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT631524	hsa-miR-588	HITS-CLIP	23824327
MIRT631523	hsa-miR-4435	HITS-CLIP	23824327
MIRT631522	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT631521	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT631520	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT504223	hsa-miR-4731-3p	PAR-CLIP	22012620
MIRT504222	hsa-miR-4801	PAR-CLIP	22012620
MIRT535735	hsa-miR-382-3p	PAR-CLIP	22012620
MIRT504221	hsa-miR-4719	PAR-CLIP	22012620
MIRT504220	hsa-miR-155-3p	PAR-CLIP	22012620
MIRT504235	hsa-miR-548ac	PAR-CLIP	23446348
MIRT504234	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT504233	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT504232	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT504231	hsa-miR-548z	PAR-CLIP	23446348
MIRT504230	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT504229	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT504228	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT504227	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT504226	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT504225	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT504224	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT504223	hsa-miR-4731-3p	PAR-CLIP	23446348
MIRT504222	hsa-miR-4801	PAR-CLIP	23446348
MIRT504221	hsa-miR-4719	PAR-CLIP	23446348
MIRT504220	hsa-miR-155-3p	PAR-CLIP	23446348
MIRT504220	hsa-miR-155-3p	PAR-CLIP	27292025
MIRT504220	hsa-miR-155-3p	PAR-CLIP	27292025
MIRT504221	hsa-miR-4719	PAR-CLIP	27292025
MIRT504221	hsa-miR-4719	PAR-CLIP	27292025
MIRT504223	hsa-miR-4731-3p	PAR-CLIP	27292025
MIRT504223	hsa-miR-4731-3p	PAR-CLIP	27292025
MIRT504222	hsa-miR-4801	PAR-CLIP	27292025
MIRT504222	hsa-miR-4801	PAR-CLIP	27292025
MIRT504235	hsa-miR-548ac	PAR-CLIP	27292025
MIRT504235	hsa-miR-548ac	PAR-CLIP	27292025
MIRT504230	hsa-miR-548ae-3p	PAR-CLIP	27292025
MIRT504230	hsa-miR-548ae-3p	PAR-CLIP	27292025
MIRT504229	hsa-miR-548ah-3p	PAR-CLIP	27292025
MIRT504229	hsa-miR-548ah-3p	PAR-CLIP	27292025
MIRT504228	hsa-miR-548aj-3p	PAR-CLIP	27292025
MIRT504228	hsa-miR-548aj-3p	PAR-CLIP	27292025
MIRT504227	hsa-miR-548am-3p	PAR-CLIP	27292025
MIRT504227	hsa-miR-548am-3p	PAR-CLIP	27292025
MIRT504226	hsa-miR-548aq-3p	PAR-CLIP	27292025
MIRT504226	hsa-miR-548aq-3p	PAR-CLIP	27292025
MIRT504234	hsa-miR-548bb-3p	PAR-CLIP	27292025
MIRT504234	hsa-miR-548bb-3p	PAR-CLIP	27292025
MIRT504233	hsa-miR-548d-3p	PAR-CLIP	27292025
MIRT504233	hsa-miR-548d-3p	PAR-CLIP	27292025
MIRT504232	hsa-miR-548h-3p	PAR-CLIP	27292025
MIRT504232	hsa-miR-548h-3p	PAR-CLIP	27292025
MIRT504225	hsa-miR-548j-3p	PAR-CLIP	27292025
MIRT504225	hsa-miR-548j-3p	PAR-CLIP	27292025
MIRT504224	hsa-miR-548x-3p	PAR-CLIP	27292025
MIRT504224	hsa-miR-548x-3p	PAR-CLIP	27292025
MIRT504231	hsa-miR-548z	PAR-CLIP	27292025
MIRT504231	hsa-miR-548z	PAR-CLIP	27292025
MIRT000458	hsa-miR-143-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	31955010
MIRT000458	hsa-miR-143-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	31955010
MIRT000458	hsa-miR-143-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	31955010
MIRT000458	hsa-miR-143-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	31955010
MIRT000458	hsa-miR-143-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), RNA-seq, qRT-PCR, Flow cytometry	31954329
MIRT722391	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT722390	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT631533	hsa-miR-1264	HITS-CLIP	23824327
MIRT631532	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT631531	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT631530	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT631529	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT631528	hsa-miR-6131	HITS-CLIP	23824327
MIRT631527	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT631526	hsa-miR-548s	HITS-CLIP	23824327
MIRT631525	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT631524	hsa-miR-588	HITS-CLIP	23824327
MIRT631523	hsa-miR-4435	HITS-CLIP	23824327
MIRT631522	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT631521	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT631520	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT504223	hsa-miR-4731-3p	PAR-CLIP	22012620
MIRT504222	hsa-miR-4801	PAR-CLIP	22012620
MIRT535735	hsa-miR-382-3p	PAR-CLIP	22012620
MIRT504221	hsa-miR-4719	PAR-CLIP	22012620
MIRT504220	hsa-miR-155-3p	PAR-CLIP	22012620
MIRT504235	hsa-miR-548ac	PAR-CLIP	23446348
MIRT504234	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT504233	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT504232	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT504231	hsa-miR-548z	PAR-CLIP	23446348
MIRT504230	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT504229	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT504228	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT504227	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT504226	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT504225	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT504224	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT504223	hsa-miR-4731-3p	PAR-CLIP	23446348
MIRT504222	hsa-miR-4801	PAR-CLIP	23446348
MIRT504221	hsa-miR-4719	PAR-CLIP	23446348
MIRT504220	hsa-miR-155-3p	PAR-CLIP	23446348
MIRT1170046	hsa-miR-105	CLIP-seq
MIRT1170047	hsa-miR-106a	CLIP-seq
MIRT1170048	hsa-miR-106b	CLIP-seq
MIRT1170049	hsa-miR-1234	CLIP-seq
MIRT1170050	hsa-miR-1263	CLIP-seq
MIRT1170051	hsa-miR-1270	CLIP-seq
MIRT1170052	hsa-miR-1273f	CLIP-seq
MIRT1170053	hsa-miR-1283	CLIP-seq
MIRT1170054	hsa-miR-129-5p	CLIP-seq
MIRT1170055	hsa-miR-135a	CLIP-seq
MIRT1170056	hsa-miR-135b	CLIP-seq
MIRT1170057	hsa-miR-143	CLIP-seq
MIRT1170058	hsa-miR-150	CLIP-seq
MIRT1170059	hsa-miR-17	CLIP-seq
MIRT1170060	hsa-miR-192	CLIP-seq
MIRT1170061	hsa-miR-20a	CLIP-seq
MIRT1170062	hsa-miR-20b	CLIP-seq
MIRT1170063	hsa-miR-2116	CLIP-seq
MIRT1170064	hsa-miR-215	CLIP-seq
MIRT1170065	hsa-miR-2909	CLIP-seq
MIRT1170066	hsa-miR-300	CLIP-seq
MIRT1170067	hsa-miR-302a	CLIP-seq
MIRT1170068	hsa-miR-302b	CLIP-seq
MIRT1170069	hsa-miR-302c	CLIP-seq
MIRT1170070	hsa-miR-302d	CLIP-seq
MIRT1170071	hsa-miR-302e	CLIP-seq
MIRT1170072	hsa-miR-3162-5p	CLIP-seq
MIRT1170073	hsa-miR-3167	CLIP-seq
MIRT1170074	hsa-miR-3171	CLIP-seq
MIRT1170075	hsa-miR-361-5p	CLIP-seq
MIRT1170076	hsa-miR-3618	CLIP-seq
MIRT1170077	hsa-miR-3647-3p	CLIP-seq
MIRT1170078	hsa-miR-3688-3p	CLIP-seq
MIRT1170079	hsa-miR-3689a-3p	CLIP-seq
MIRT1170080	hsa-miR-3689c	CLIP-seq
MIRT1170081	hsa-miR-3692	CLIP-seq
MIRT1170082	hsa-miR-372	CLIP-seq
MIRT1170083	hsa-miR-373	CLIP-seq
MIRT1170084	hsa-miR-380	CLIP-seq
MIRT1170085	hsa-miR-381	CLIP-seq
MIRT1170086	hsa-miR-3924	CLIP-seq
MIRT1170087	hsa-miR-3929	CLIP-seq
MIRT1170088	hsa-miR-4251	CLIP-seq
MIRT1170089	hsa-miR-4275	CLIP-seq
MIRT1170090	hsa-miR-4282	CLIP-seq
MIRT1170091	hsa-miR-4307	CLIP-seq
MIRT1170092	hsa-miR-4419b	CLIP-seq
MIRT1170093	hsa-miR-4426	CLIP-seq
MIRT1170094	hsa-miR-4427	CLIP-seq
MIRT1170095	hsa-miR-4436b-5p	CLIP-seq
MIRT1170096	hsa-miR-4438	CLIP-seq
MIRT1170097	hsa-miR-4478	CLIP-seq
MIRT1170098	hsa-miR-4495	CLIP-seq
MIRT1170099	hsa-miR-4520a-3p	CLIP-seq
MIRT1170100	hsa-miR-4520b-3p	CLIP-seq
MIRT1170101	hsa-miR-4531	CLIP-seq
MIRT1170102	hsa-miR-4637	CLIP-seq
MIRT1170103	hsa-miR-4647	CLIP-seq
MIRT1170104	hsa-miR-4662b	CLIP-seq
MIRT1170105	hsa-miR-4677-5p	CLIP-seq
MIRT1170106	hsa-miR-4680-3p	CLIP-seq
MIRT1170107	hsa-miR-4708-5p	CLIP-seq
MIRT1170108	hsa-miR-4720-3p	CLIP-seq
MIRT1170109	hsa-miR-4728-5p	CLIP-seq
MIRT1170110	hsa-miR-4731-5p	CLIP-seq
MIRT1170111	hsa-miR-4762-3p	CLIP-seq
MIRT1170112	hsa-miR-4766-5p	CLIP-seq
MIRT1170113	hsa-miR-4770	CLIP-seq
MIRT1170114	hsa-miR-4796-3p	CLIP-seq
MIRT1170115	hsa-miR-4796-5p	CLIP-seq
MIRT1170116	hsa-miR-485-5p	CLIP-seq
MIRT1170117	hsa-miR-491-3p	CLIP-seq
MIRT1170118	hsa-miR-494	CLIP-seq
MIRT1170119	hsa-miR-508-5p	CLIP-seq
MIRT1170120	hsa-miR-5095	CLIP-seq
MIRT1170121	hsa-miR-511	CLIP-seq
MIRT1170122	hsa-miR-512-3p	CLIP-seq
MIRT1170123	hsa-miR-513a-3p	CLIP-seq
MIRT1170124	hsa-miR-519d	CLIP-seq
MIRT1170125	hsa-miR-520a-3p	CLIP-seq
MIRT1170126	hsa-miR-520b	CLIP-seq
MIRT1170127	hsa-miR-520c-3p	CLIP-seq
MIRT1170128	hsa-miR-520d-3p	CLIP-seq
MIRT1170129	hsa-miR-520e	CLIP-seq
MIRT1170130	hsa-miR-520g	CLIP-seq
MIRT1170131	hsa-miR-520h	CLIP-seq
MIRT1170132	hsa-miR-539	CLIP-seq
MIRT1170133	hsa-miR-556-3p	CLIP-seq
MIRT1170134	hsa-miR-570	CLIP-seq
MIRT1170135	hsa-miR-586	CLIP-seq
MIRT1170136	hsa-miR-620	CLIP-seq
MIRT1170137	hsa-miR-624	CLIP-seq
MIRT1170138	hsa-miR-640	CLIP-seq
MIRT1170139	hsa-miR-654-3p	CLIP-seq
MIRT1170140	hsa-miR-656	CLIP-seq
MIRT1170141	hsa-miR-876-5p	CLIP-seq
MIRT1170142	hsa-miR-890	CLIP-seq
MIRT1170143	hsa-miR-93	CLIP-seq
MIRT1170144	hsa-miR-935	CLIP-seq
MIRT1556711	hsa-miR-3617	CLIP-seq
MIRT1556712	hsa-miR-641	CLIP-seq
MIRT1170051	hsa-miR-1270	CLIP-seq
MIRT2049002	hsa-miR-1276	CLIP-seq
MIRT2049003	hsa-miR-1323	CLIP-seq
MIRT2049004	hsa-miR-142-5p	CLIP-seq
MIRT2049005	hsa-miR-1471	CLIP-seq
MIRT2049006	hsa-miR-197	CLIP-seq
MIRT2049007	hsa-miR-340	CLIP-seq
MIRT2049008	hsa-miR-34b	CLIP-seq
MIRT2049009	hsa-miR-3614-3p	CLIP-seq
MIRT1170079	hsa-miR-3689a-3p	CLIP-seq
MIRT1170080	hsa-miR-3689c	CLIP-seq
MIRT2049010	hsa-miR-374c	CLIP-seq
MIRT1170087	hsa-miR-3929	CLIP-seq
MIRT1170088	hsa-miR-4251	CLIP-seq
MIRT2049011	hsa-miR-4269	CLIP-seq
MIRT2049012	hsa-miR-4279	CLIP-seq
MIRT2049013	hsa-miR-4301	CLIP-seq
MIRT2049014	hsa-miR-4311	CLIP-seq
MIRT1170092	hsa-miR-4419b	CLIP-seq
MIRT2049015	hsa-miR-4423-3p	CLIP-seq
MIRT1170096	hsa-miR-4438	CLIP-seq
MIRT2049016	hsa-miR-4470	CLIP-seq
MIRT1170097	hsa-miR-4478	CLIP-seq
MIRT1170099	hsa-miR-4520a-3p	CLIP-seq
MIRT1170100	hsa-miR-4520b-3p	CLIP-seq
MIRT1170101	hsa-miR-4531	CLIP-seq
MIRT1170106	hsa-miR-4680-3p	CLIP-seq
MIRT1170109	hsa-miR-4728-5p	CLIP-seq
MIRT2049017	hsa-miR-4775	CLIP-seq
MIRT2049018	hsa-miR-4777-5p	CLIP-seq
MIRT1170114	hsa-miR-4796-3p	CLIP-seq
MIRT1170116	hsa-miR-485-5p	CLIP-seq
MIRT1170118	hsa-miR-494	CLIP-seq
MIRT1170119	hsa-miR-508-5p	CLIP-seq
MIRT1170120	hsa-miR-5095	CLIP-seq
MIRT2049019	hsa-miR-5096	CLIP-seq
MIRT2049020	hsa-miR-513b	CLIP-seq
MIRT2049021	hsa-miR-518d-5p	CLIP-seq
MIRT2049022	hsa-miR-519b-5p	CLIP-seq
MIRT2049023	hsa-miR-519c-5p	CLIP-seq
MIRT2049024	hsa-miR-520c-5p	CLIP-seq
MIRT2049025	hsa-miR-526a	CLIP-seq
MIRT1170132	hsa-miR-539	CLIP-seq
MIRT2049026	hsa-miR-548a-5p	CLIP-seq
MIRT2049027	hsa-miR-548ab	CLIP-seq
MIRT2049028	hsa-miR-548ak	CLIP-seq
MIRT2049029	hsa-miR-548b-5p	CLIP-seq
MIRT2049030	hsa-miR-548c-5p	CLIP-seq
MIRT2049031	hsa-miR-548d-5p	CLIP-seq
MIRT2049032	hsa-miR-548h	CLIP-seq
MIRT2049033	hsa-miR-548i	CLIP-seq
MIRT2049034	hsa-miR-548j	CLIP-seq
MIRT2049035	hsa-miR-548k	CLIP-seq
MIRT2049036	hsa-miR-548l	CLIP-seq
MIRT2049037	hsa-miR-548o	CLIP-seq
MIRT2049038	hsa-miR-548w	CLIP-seq
MIRT2049039	hsa-miR-548y	CLIP-seq
MIRT2049040	hsa-miR-559	CLIP-seq
MIRT2049041	hsa-miR-579	CLIP-seq
MIRT2049042	hsa-miR-583	CLIP-seq
MIRT1170136	hsa-miR-620	CLIP-seq
MIRT2049043	hsa-miR-655	CLIP-seq
MIRT1170142	hsa-miR-890	CLIP-seq
MIRT2278027	hsa-let-7a	CLIP-seq
MIRT2278028	hsa-let-7b	CLIP-seq
MIRT2278029	hsa-let-7c	CLIP-seq
MIRT2278030	hsa-let-7d	CLIP-seq
MIRT2278031	hsa-let-7e	CLIP-seq
MIRT2278032	hsa-let-7f	CLIP-seq
MIRT2278033	hsa-let-7g	CLIP-seq
MIRT2278034	hsa-let-7i	CLIP-seq
MIRT2278035	hsa-miR-1183	CLIP-seq
MIRT2278036	hsa-miR-1208	CLIP-seq
MIRT2278037	hsa-miR-1275	CLIP-seq
MIRT2278038	hsa-miR-1285	CLIP-seq
MIRT2278039	hsa-miR-1297	CLIP-seq
MIRT2278040	hsa-miR-1307	CLIP-seq
MIRT2278041	hsa-miR-145	CLIP-seq
MIRT2049005	hsa-miR-1471	CLIP-seq
MIRT1170058	hsa-miR-150	CLIP-seq
MIRT2278042	hsa-miR-196a	CLIP-seq
MIRT2278043	hsa-miR-196b	CLIP-seq
MIRT2049006	hsa-miR-197	CLIP-seq
MIRT2278044	hsa-miR-1976	CLIP-seq
MIRT2278045	hsa-miR-202	CLIP-seq
MIRT2278046	hsa-miR-203	CLIP-seq
MIRT2278047	hsa-miR-2467-5p	CLIP-seq
MIRT2278048	hsa-miR-26a	CLIP-seq
MIRT2278049	hsa-miR-26b	CLIP-seq
MIRT1170065	hsa-miR-2909	CLIP-seq
MIRT2278050	hsa-miR-297	CLIP-seq
MIRT2278051	hsa-miR-3121-5p	CLIP-seq
MIRT2278052	hsa-miR-3123	CLIP-seq
MIRT2278053	hsa-miR-3128	CLIP-seq
MIRT2278054	hsa-miR-3148	CLIP-seq
MIRT1170072	hsa-miR-3162-5p	CLIP-seq
MIRT2278055	hsa-miR-3182	CLIP-seq
MIRT2278056	hsa-miR-3187-5p	CLIP-seq
MIRT2278057	hsa-miR-3188	CLIP-seq
MIRT2278058	hsa-miR-330-3p	CLIP-seq
MIRT2278059	hsa-miR-338-3p	CLIP-seq
MIRT2278060	hsa-miR-3682-5p	CLIP-seq
MIRT2278061	hsa-miR-3915	CLIP-seq
MIRT2278062	hsa-miR-3919	CLIP-seq
MIRT1170086	hsa-miR-3924	CLIP-seq
MIRT2278063	hsa-miR-3925-3p	CLIP-seq
MIRT2278064	hsa-miR-3928	CLIP-seq
MIRT1170087	hsa-miR-3929	CLIP-seq
MIRT2278065	hsa-miR-3936	CLIP-seq
MIRT2278066	hsa-miR-3975	CLIP-seq
MIRT1170088	hsa-miR-4251	CLIP-seq
MIRT2049011	hsa-miR-4269	CLIP-seq
MIRT2049012	hsa-miR-4279	CLIP-seq
MIRT1170092	hsa-miR-4419b	CLIP-seq
MIRT2278067	hsa-miR-4422	CLIP-seq
MIRT1170096	hsa-miR-4438	CLIP-seq
MIRT2278068	hsa-miR-4458	CLIP-seq
MIRT2278069	hsa-miR-4465	CLIP-seq
MIRT1170097	hsa-miR-4478	CLIP-seq
MIRT2278070	hsa-miR-4500	CLIP-seq
MIRT2278071	hsa-miR-450b-5p	CLIP-seq
MIRT1170099	hsa-miR-4520a-3p	CLIP-seq
MIRT1170100	hsa-miR-4520b-3p	CLIP-seq
MIRT2278072	hsa-miR-4525	CLIP-seq
MIRT2278073	hsa-miR-4530	CLIP-seq
MIRT2278074	hsa-miR-455-5p	CLIP-seq
MIRT2278075	hsa-miR-4638-5p	CLIP-seq
MIRT2278076	hsa-miR-4665-5p	CLIP-seq
MIRT2278077	hsa-miR-4668-5p	CLIP-seq
MIRT2278078	hsa-miR-4704-5p	CLIP-seq
MIRT2278079	hsa-miR-4720-5p	CLIP-seq
MIRT2278080	hsa-miR-4722-3p	CLIP-seq
MIRT2278081	hsa-miR-4723-5p	CLIP-seq
MIRT2278082	hsa-miR-4727-5p	CLIP-seq
MIRT2278083	hsa-miR-4729	CLIP-seq
MIRT2278084	hsa-miR-4735-5p	CLIP-seq
MIRT2278085	hsa-miR-4772-3p	CLIP-seq
MIRT2049017	hsa-miR-4775	CLIP-seq
MIRT2278086	hsa-miR-4797-5p	CLIP-seq
MIRT2278087	hsa-miR-4799-3p	CLIP-seq
MIRT1170116	hsa-miR-485-5p	CLIP-seq
MIRT1170118	hsa-miR-494	CLIP-seq
MIRT2278088	hsa-miR-499-3p	CLIP-seq
MIRT2278089	hsa-miR-499a-3p	CLIP-seq
MIRT1170119	hsa-miR-508-5p	CLIP-seq
MIRT1170120	hsa-miR-5095	CLIP-seq
MIRT2278090	hsa-miR-518a-5p	CLIP-seq
MIRT2278091	hsa-miR-527	CLIP-seq
MIRT1170132	hsa-miR-539	CLIP-seq
MIRT2278092	hsa-miR-545	CLIP-seq
MIRT2278093	hsa-miR-548aa	CLIP-seq
MIRT2278094	hsa-miR-548ag	CLIP-seq
MIRT2278095	hsa-miR-548ai	CLIP-seq
MIRT1170133	hsa-miR-556-3p	CLIP-seq
MIRT2278096	hsa-miR-562	CLIP-seq
MIRT2278097	hsa-miR-567	CLIP-seq
MIRT2278098	hsa-miR-576-5p	CLIP-seq
MIRT2049041	hsa-miR-579	CLIP-seq
MIRT2278099	hsa-miR-590-3p	CLIP-seq
MIRT2278100	hsa-miR-612	CLIP-seq
MIRT2278101	hsa-miR-625	CLIP-seq
MIRT1170142	hsa-miR-890	CLIP-seq
MIRT2278102	hsa-miR-892a	CLIP-seq
MIRT2278103	hsa-miR-922	CLIP-seq
MIRT2278104	hsa-miR-98	CLIP-seq
MIRT2391286	hsa-miR-1182	CLIP-seq
MIRT2278036	hsa-miR-1208	CLIP-seq
MIRT2391287	hsa-miR-1236	CLIP-seq
MIRT1170052	hsa-miR-1273f	CLIP-seq
MIRT2391288	hsa-miR-186	CLIP-seq
MIRT2278063	hsa-miR-3925-3p	CLIP-seq
MIRT2391289	hsa-miR-4421	CLIP-seq
MIRT1170095	hsa-miR-4436b-5p	CLIP-seq
MIRT2049041	hsa-miR-579	CLIP-seq
MIRT2391290	hsa-miR-593	CLIP-seq
MIRT2391291	hsa-miR-607	CLIP-seq
MIRT2391292	hsa-miR-649	CLIP-seq
MIRT2278052	hsa-miR-3123	CLIP-seq
MIRT2278054	hsa-miR-3148	CLIP-seq
MIRT2278062	hsa-miR-3919	CLIP-seq
MIRT2278086	hsa-miR-4797-5p	CLIP-seq
MIRT1170052	hsa-miR-1273f	CLIP-seq
MIRT2576509	hsa-miR-1287	CLIP-seq
MIRT2049003	hsa-miR-1323	CLIP-seq
MIRT1170057	hsa-miR-143	CLIP-seq
MIRT2278041	hsa-miR-145	CLIP-seq
MIRT2391288	hsa-miR-186	CLIP-seq
MIRT2576510	hsa-miR-1910	CLIP-seq
MIRT2576511	hsa-miR-2052	CLIP-seq
MIRT2576512	hsa-miR-218	CLIP-seq
MIRT2576513	hsa-miR-2277-3p	CLIP-seq
MIRT2576514	hsa-miR-3120-3p	CLIP-seq
MIRT2576515	hsa-miR-3135b	CLIP-seq
MIRT2576516	hsa-miR-3149	CLIP-seq
MIRT2049008	hsa-miR-34b	CLIP-seq
MIRT2576517	hsa-miR-34c-3p	CLIP-seq
MIRT2576518	hsa-miR-371-5p	CLIP-seq
MIRT2576519	hsa-miR-371b-5p	CLIP-seq
MIRT2576520	hsa-miR-409-3p	CLIP-seq
MIRT2576521	hsa-miR-4263	CLIP-seq
MIRT2576522	hsa-miR-4289	CLIP-seq
MIRT1170091	hsa-miR-4307	CLIP-seq
MIRT2576523	hsa-miR-4452	CLIP-seq
MIRT2576524	hsa-miR-4461	CLIP-seq
MIRT2576525	hsa-miR-455-3p	CLIP-seq
MIRT2576526	hsa-miR-4670-3p	CLIP-seq
MIRT1170107	hsa-miR-4708-5p	CLIP-seq
MIRT2576527	hsa-miR-4715-3p	CLIP-seq
MIRT2278084	hsa-miR-4735-5p	CLIP-seq
MIRT2576528	hsa-miR-4762-5p	CLIP-seq
MIRT1170113	hsa-miR-4770	CLIP-seq
MIRT2576529	hsa-miR-4794	CLIP-seq
MIRT2576530	hsa-miR-488	CLIP-seq
MIRT1170118	hsa-miR-494	CLIP-seq
MIRT2278093	hsa-miR-548aa	CLIP-seq
MIRT2576531	hsa-miR-548c-3p	CLIP-seq
MIRT2049037	hsa-miR-548o	CLIP-seq
MIRT2576532	hsa-miR-548p	CLIP-seq
MIRT2278098	hsa-miR-576-5p	CLIP-seq
MIRT2576533	hsa-miR-621	CLIP-seq
MIRT2685684	hsa-miR-1237	CLIP-seq
MIRT1170052	hsa-miR-1273f	CLIP-seq
MIRT2576509	hsa-miR-1287	CLIP-seq
MIRT2049003	hsa-miR-1323	CLIP-seq
MIRT1170057	hsa-miR-143	CLIP-seq
MIRT2278041	hsa-miR-145	CLIP-seq
MIRT2391288	hsa-miR-186	CLIP-seq
MIRT2576510	hsa-miR-1910	CLIP-seq
MIRT2576511	hsa-miR-2052	CLIP-seq
MIRT2576512	hsa-miR-218	CLIP-seq
MIRT2576513	hsa-miR-2277-3p	CLIP-seq
MIRT2576514	hsa-miR-3120-3p	CLIP-seq
MIRT2576515	hsa-miR-3135b	CLIP-seq
MIRT2576516	hsa-miR-3149	CLIP-seq
MIRT2278055	hsa-miR-3182	CLIP-seq
MIRT2049008	hsa-miR-34b	CLIP-seq
MIRT2576517	hsa-miR-34c-3p	CLIP-seq
MIRT2576518	hsa-miR-371-5p	CLIP-seq
MIRT2576519	hsa-miR-371b-5p	CLIP-seq
MIRT2576520	hsa-miR-409-3p	CLIP-seq
MIRT2576521	hsa-miR-4263	CLIP-seq
MIRT2576522	hsa-miR-4289	CLIP-seq
MIRT1170091	hsa-miR-4307	CLIP-seq
MIRT2049015	hsa-miR-4423-3p	CLIP-seq
MIRT2576523	hsa-miR-4452	CLIP-seq
MIRT2576524	hsa-miR-4461	CLIP-seq
MIRT2576525	hsa-miR-455-3p	CLIP-seq
MIRT2576526	hsa-miR-4670-3p	CLIP-seq
MIRT2685685	hsa-miR-4705	CLIP-seq
MIRT1170107	hsa-miR-4708-5p	CLIP-seq
MIRT2576527	hsa-miR-4715-3p	CLIP-seq
MIRT2278084	hsa-miR-4735-5p	CLIP-seq
MIRT2576528	hsa-miR-4762-5p	CLIP-seq
MIRT1170113	hsa-miR-4770	CLIP-seq
MIRT2576529	hsa-miR-4794	CLIP-seq
MIRT2576530	hsa-miR-488	CLIP-seq
MIRT1170118	hsa-miR-494	CLIP-seq
MIRT2278093	hsa-miR-548aa	CLIP-seq
MIRT2576531	hsa-miR-548c-3p	CLIP-seq
MIRT2049037	hsa-miR-548o	CLIP-seq
MIRT2576532	hsa-miR-548p	CLIP-seq
MIRT2278098	hsa-miR-576-5p	CLIP-seq
MIRT2576533	hsa-miR-621	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001726	Component	Ruffle	IBA
GO:0001726	Component	Ruffle	IDA	9852149, 16507995
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003774	Function	Cytoskeletal motor activity	ISS
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	10519557
GO:0005515	Function	Protein binding	IPI	11447109, 11967127, 15247260, 15837803, 16908842, 22323290, 23023224, 28514442, 29467281, 33961781, 35271311
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005516	Function	Calmodulin binding	TAS	12857860
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	16507995
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	16949370
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9852149, 16507995, 16949370
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	16507995
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IEA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005938	Component	Cell cortex	ISS
GO:0006886	Process	Intracellular protein transport	ISS
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	IMP	15247260
GO:0006897	Process	Endocytosis	ISS
GO:0007015	Process	Actin filament organization	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016461	Component	Unconventional myosin complex	TAS	9259267
GO:0030048	Process	Actin filament-based movement	IBA
GO:0030048	Process	Actin filament-based movement	ISS
GO:0030048	Process	Actin filament-based movement	NAS	10519557
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030139	Component	Endocytic vesicle	IBA
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030139	Component	Endocytic vesicle	ISS
GO:0030175	Component	Filopodium	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IDA	16507995
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	16507995
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031941	Component	Filamentous actin	IDA	9852149
GO:0031965	Component	Nuclear membrane	IDA	16507995
GO:0032587	Component	Ruffle membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042472	Process	Inner ear morphogenesis	IBA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IBA
GO:0042802	Function	Identical protein binding	IPI	18511944
GO:0042995	Component	Cell projection	IEA
GO:0043531	Function	ADP binding	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	IDA	11447109
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9852149
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	9852149
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0051046	Process	Regulation of secretion	IMP	15837803
GO:0060001	Function	Minus-end directed microfilament motor activity	NAS	10519557
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 600970
• HGNC: 7605
• e!Ensembl: ENSG00000196586

Protein

• UniProt ID: Q9UM54
• Protein name: Unconventional myosin-VI (Unconventional myosin-6)
• Protein function: Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filame
• PDB: 2N0Z, 2N10, 2N11, 2N12, 2N13, 6E5N, 6J56, 8W41
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00063	Myosin_head	59 → 759	Myosin head (motor domain)	Domain
  PF16521	Myosin-VI_CBD	1177 → 1267	Myosin VI cargo binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in most tissues examined including heart, brain, placenta, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small intestine. Also expressed in fetal b
• Sequence:

  MEDGKPVWAPHPTDGFQMGNIVDIGPDSLTIEPLNQKGKTFLALINQVFPAEEDSKKDVE
  DNCSLMYLNEATLLHNIKVRYSKDRIYTYVANILIAVNPYFDIPKIYSSEAIKSYQGKSL
  GTRPPHVFAIADKAFRDMKVLKMSQSIIVSGESGAGKTENTKFVLRYLTESYGTGQDIDD
  RIVEANPLLEAFGNAKTVRNNNSSRFGKFVEIHFNEKSSVVGGFVSHYLLEKSRICVQGK
  EERNYHIFYRLCAGASEDIREKLHLSSPDNFRYLNRGCTRYFANKETDKQILQNRKSPEY
  LKAGSMKDPLLDDHGDFIRMCTAMKKIGLDDEEKLDLFRVVAGVLHLGNIDFEEAGSTSG
  GCNLKNKSAQSLEYCAELLGLDQDDLRVSLTTRVMLTTAGGTKGTVIKVPLKVEQANNAR
  DALAKTVYSHLFDHVVNRVNQCFPFETSSYFIGVLDIAGFEYFEHNSFEQFCINYCNEKL
  QQFFNERILKEEQELYQKEGLGVNEVHYVDNQDCIDLIEAKLVGILDILDEENRLPQPSD
  QHFTSAVHQKHKDHFRLTIPRKSKLAVHRNIRDDEGFIIRHFAGAVCYETTQFVEKNNDA
  LHMSLESLICESRDKFIRELFESSTNNNKDTKQKAGKLSFISVGNKFKTQLNLLLDKLRS
  TGASFIRCIKPNLKMTSHHFEGAQILSQLQCSGMVSVLDLMQGGYPSRASFHELYNMYKK
  YMPDKLARLDPRLFCKALFKALGLNENDYKFGLTKVFFRPGKFAEFDQIMKSDPDHLAEL
  VKRVNHWLTCSRWKKVQWCSLSVIKLKNKIKYRAEACIKMQKTIRMWLCKRRHKPRIDGL
  VKVGTLKKRLDKFNEVVSVLKDGKPEMNKQIKNLEISIDTLMAKIKSTMMTQEQIQKEYD
  ALVKSSEELLSALQKKKQQEEEAERLRRIQEEMEKERKRREEDEKRRRKEEEERRMKLEM
  EAKRKQEEEERKKREDDEKRIQAEVEAQLARQKEEESQQQAVLEQERRDRELALRIAQSE
  AELISDEAQADLALRRSLDSYPVSKNDGTRPKMTPEQMAKEMSEFLSRGPAVLATKAAAG
  TKKYDLSKWKYAELRDTINTSCDIELLAACREEFHRRLKVYHAWKSKNKKRNTETEQRAP
  KSVTDYDFAPFLNNSPQQNPAAQIPARQREIEMNRQQRFFRIPFIRPADQYKDPQSKKKG
  WWYAHFDGPWIARQMELHPDKPPILLVAGKDDMEMCELNLEETGLTRKRGAEILPRQFEE
  IWERCGGIQYLQNAIESRQARPTYATAMLQSLLK

• Sequence length: 1294

Pathways

KEGG:

Motor proteins
Pathogenic Escherichia coli infection
Salmonella infection

Reactome:

Gap junction degradation
Trafficking of AMPA receptors

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
Autosomal dominant nonsyndromic hearing loss	Pathogenic	rs2150249865	RCV002226798	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss 22	Likely pathogenic; Pathogenic	rs749752357, rs2535553134, rs2535544061, rs727504567, rs727503326, rs876657653, rs121912557, rs121912561, rs1562283089, rs878853225, rs2534950585, rs2535543931, rs2535265747, rs1060499799, rs551348450, rs1554218566, rs1582024232, rs1775958137, rs1777874560	RCV005038155 RCV002286503 RCV002289334 RCV001004798 RCV000763565 RCV004786566 RCV000009108 RCV000009113 RCV000009114 RCV000225059 RCV003155547 RCV003510971 RCV003991292 RCV000454125 RCV003336098 RCV000655894 RCV001004799 RCV001250410 RCV001255960	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 37	Likely pathogenic; Pathogenic	rs749752357, rs2149367858, rs727503326, rs876657653, rs1562201376, rs121912558, rs2535510209, rs1057523846, rs1060499799	RCV005038155 RCV001809338 RCV000763565 RCV003389245 RCV000009109 RCV000009110 RCV003123299 RCV004559056 RCV001808829	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ear malformation	Likely pathogenic	rs2149288272	RCV001814386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential tremor	Likely pathogenic	rs551348450	RCV001543426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs749752357, rs2149347766, rs2535770717	RCV001375265 RCV001375264 RCV002463869	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional epidermolysis bullosa with pyloric atresia	Likely pathogenic	rs551348450	RCV004813128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic	rs727504567	RCV006255156	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYO6-related disorder	Likely pathogenic; Pathogenic	rs2149321922, rs557441143, rs1778054006, rs2535586551, rs551348450	RCV004536308 RCV004536733 RCV003405118 RCV004531963 RCV004527692	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs727504567, rs551348450, rs1771411002	RCV000155733 RCV002250426 RCV001195594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Likely pathogenic; Pathogenic	rs121912560	RCV004691086	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727504567, rs727503326, rs727504548, rs727505015, rs876657710, rs876657709, rs876657653, rs121912560, rs121912561, rs1554205683, rs397517045, rs1583208411	RCV000844712 RCV000151469 RCV000155707 RCV000156438 RCV000216690 RCV000223613 RCV000215443 RCV000219073 RCV000605133 RCV000603840 RCV000038290 RCV000826181	★★★★★ 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
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 22	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 22,DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY,	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 37	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal recessive	Benign; Likely benign; Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Infertility disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonsyndromic Hearing Loss, Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SENSORINEURAL HEARING LOSS AND HYPERTROPHIC CARDIOMYOPATHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25859013		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defect Sinus Venosus	Atrial septal defect	Pubtator	29969989	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26407123		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25643992		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26950368		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	18348273, 25125183, 26265212, 28096472, 31206648		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	16507995, 29969989	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29844196		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	34957672	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27044563, 29217166		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27044563, 32993655, 35091088	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29969989		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12687499, 23767834, 24105371, 27344577, 27474411, 32048449, 34997062, 35248088, 37872146	Associate	★☆☆☆☆ Found in Text Mining only
Deafness autosomal dominant nonsyndromic sensorineural 22	Autosomal dominant sensorineural deafness	Pubtator	12687499, 27474411	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	12687499	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 37	Deafness	Pubtator	27474411	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY	Deafness with hypertrophic cardioyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Deafness, autosomal dominant nonsyndromic sensorineural 22	Deafness	UNIPROT_DG	11468689, 15060111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, autosomal dominant nonsyndromic sensorineural 22	Deafness	GENOMICS_ENGLAND_DG	9259267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, autosomal dominant nonsyndromic sensorineural 22	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, autosomal dominant nonsyndromic sensorineural 22	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 37	Deafness	UNIPROT_DG	12687499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 37	Deafness	GENOMICS_ENGLAND_DG	9259267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 37	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 37	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy	Deafness, Sensorineural, With Hypertrophic Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37817158	Stimulate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	12687499, 20648052, 24105371, 25080041, 28000701, 30175721, 32066420, 32143290, 34753855, 34997062, 35248088, 36633841	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	15829536, 16507995, 20146813, 32066420, 32143290	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	29969989	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	26265212		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	21626137	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASDB_DG	21626137		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30864843		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37666879	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25703929		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37965333	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26407123		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25643992		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26950368		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17071605, 19156837, 19787211, 19855435, 20353999, 26324058, 27431378, 29187741		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26324058		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27515005, 29022908		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17071605, 31206648, 31744880		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26324058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	25125183		★☆☆☆☆ Found in Text Mining only
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	12687499	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20353999		★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	32066420	Associate	★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	29607572		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30387375		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	11468689, 18348273, 23743496, 25227905, 29607572, 31103816		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11468689, 17204383, 18348273, 19417007, 25227905, 25999546, 27171474		★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	34957672	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26346884	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	26346884		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26950368		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	34957672	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36857354	Associate	★☆☆☆☆ Found in Text Mining only
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	17071605, 19156837, 19787211, 19855435, 20353999, 26324058, 27431378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	25217961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17071605, 18543251		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17071605, 18543251, 19156837, 19855435, 26856686, 36095024	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20353999	Stimulate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	15123708, 15829536, 19893302, 26209396, 31103816		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27561828		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27515005, 29022908		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29022908	Associate	★☆☆☆☆ Found in Text Mining only