ATP6V1A (ATPase H+ transporting V1 subunit A)

Gene

• Entrez ID: 523
• Gene name: ATPase H+ transporting V1 subunit A
• Gene symbol: ATP6V1A
• Synonyms (NCBI Gene): ARCL2D, ATP6A1, ATP6V1A1, DEE93, HO68, IECEE3, VA68, VPP2, Vma1
• Chromosome: 3
• Chromosome location: 3q13.31
• Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs755278709	G>A,T	Likely-pathogenic	Splice donor variant
rs869312870	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060505036	C>T	Pathogenic	Missense variant, coding sequence variant
rs1060505037	G>A	Pathogenic	Missense variant, coding sequence variant
rs1553709380	C>G	Pathogenic	Missense variant, coding sequence variant
rs1553709855	G>T	Pathogenic	Missense variant, coding sequence variant
rs1553710664	G>A	Pathogenic	Missense variant, coding sequence variant
rs1553710694	A>G	Pathogenic	Missense variant, coding sequence variant
rs1559759089	C>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023734	hsa-miR-1-3p	Proteomics	18668040
MIRT029234	hsa-miR-26b-5p	Microarray	19088304
MIRT044054	hsa-miR-361-5p	CLASH	23622248
MIRT714795	hsa-miR-4704-5p	HITS-CLIP	19536157
MIRT714794	hsa-miR-6873-5p	HITS-CLIP	19536157
MIRT714793	hsa-miR-1321	HITS-CLIP	19536157
MIRT714792	hsa-miR-4739	HITS-CLIP	19536157
MIRT714791	hsa-miR-4756-5p	HITS-CLIP	19536157
MIRT714790	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT714789	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT714788	hsa-miR-4419a	HITS-CLIP	19536157
MIRT714787	hsa-miR-4510	HITS-CLIP	19536157
MIRT714786	hsa-miR-6127	HITS-CLIP	19536157
MIRT714785	hsa-miR-6129	HITS-CLIP	19536157
MIRT714784	hsa-miR-6130	HITS-CLIP	19536157
MIRT714783	hsa-miR-6133	HITS-CLIP	19536157
MIRT714782	hsa-miR-6886-3p	HITS-CLIP	19536157
MIRT714781	hsa-miR-6851-3p	HITS-CLIP	19536157
MIRT714780	hsa-miR-513b-5p	HITS-CLIP	19536157
MIRT714779	hsa-miR-138-1-3p	HITS-CLIP	19536157
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633873	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633872	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633871	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633870	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633869	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633868	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633865	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633864	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633863	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633862	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT633861	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT633860	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT633859	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT633858	hsa-miR-3689c	HITS-CLIP	23824327
MIRT633857	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT633856	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT633855	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633854	hsa-miR-3122	HITS-CLIP	23824327
MIRT633853	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633852	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633851	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633873	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633872	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633871	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633870	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633869	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633868	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633865	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633864	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633863	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633862	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT633861	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT633860	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT633859	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT633858	hsa-miR-3689c	HITS-CLIP	23824327
MIRT633857	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT633856	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT633855	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633854	hsa-miR-3122	HITS-CLIP	23824327
MIRT633853	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633852	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633851	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633873	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633872	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633871	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633870	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633869	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633868	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633865	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633864	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633863	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633862	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT633861	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT633860	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT633859	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT633858	hsa-miR-3689c	HITS-CLIP	23824327
MIRT633857	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT633856	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT633855	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633854	hsa-miR-3122	HITS-CLIP	23824327
MIRT633853	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633852	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633851	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT441145	hsa-miR-299-5p	HITS-CLIP	24374217
MIRT441145	hsa-miR-299-5p	HITS-CLIP	24374217
MIRT714795	hsa-miR-4704-5p	HITS-CLIP	19536157
MIRT714794	hsa-miR-6873-5p	HITS-CLIP	19536157
MIRT714793	hsa-miR-1321	HITS-CLIP	19536157
MIRT714792	hsa-miR-4739	HITS-CLIP	19536157
MIRT714791	hsa-miR-4756-5p	HITS-CLIP	19536157
MIRT714790	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT714789	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT714788	hsa-miR-4419a	HITS-CLIP	19536157
MIRT714787	hsa-miR-4510	HITS-CLIP	19536157
MIRT714786	hsa-miR-6127	HITS-CLIP	19536157
MIRT714785	hsa-miR-6129	HITS-CLIP	19536157
MIRT714784	hsa-miR-6130	HITS-CLIP	19536157
MIRT714783	hsa-miR-6133	HITS-CLIP	19536157
MIRT714782	hsa-miR-6886-3p	HITS-CLIP	19536157
MIRT714781	hsa-miR-6851-3p	HITS-CLIP	19536157
MIRT714780	hsa-miR-513b-5p	HITS-CLIP	19536157
MIRT714779	hsa-miR-138-1-3p	HITS-CLIP	19536157
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633873	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633872	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633871	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633870	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633869	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633868	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633865	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633864	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633863	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633862	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT633861	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT633860	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT633859	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT633858	hsa-miR-3689c	HITS-CLIP	23824327
MIRT633857	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT633856	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT633855	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633854	hsa-miR-3122	HITS-CLIP	23824327
MIRT633853	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633852	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633851	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633873	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633872	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633871	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633870	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633869	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633868	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633865	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633864	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633863	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633862	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT633861	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT633860	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT633859	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT633858	hsa-miR-3689c	HITS-CLIP	23824327
MIRT633857	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT633856	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT633855	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633854	hsa-miR-3122	HITS-CLIP	23824327
MIRT633853	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633852	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633851	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT633876	hsa-miR-4530	HITS-CLIP	23824327
MIRT633875	hsa-miR-4284	HITS-CLIP	23824327
MIRT633874	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633873	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633872	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633871	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633870	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633869	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633868	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633867	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT633866	hsa-miR-7977	HITS-CLIP	23824327
MIRT633865	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633864	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633863	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633862	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT633861	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT633860	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT633859	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT633858	hsa-miR-3689c	HITS-CLIP	23824327
MIRT633857	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT633856	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT633855	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633854	hsa-miR-3122	HITS-CLIP	23824327
MIRT633853	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633852	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633851	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT808975	hsa-miR-101	CLIP-seq
MIRT808976	hsa-miR-1200	CLIP-seq
MIRT808977	hsa-miR-1229	CLIP-seq
MIRT808978	hsa-miR-125a-3p	CLIP-seq
MIRT808979	hsa-miR-1273f	CLIP-seq
MIRT808980	hsa-miR-1285	CLIP-seq
MIRT808981	hsa-miR-1323	CLIP-seq
MIRT808982	hsa-miR-142-3p	CLIP-seq
MIRT808983	hsa-miR-143	CLIP-seq
MIRT808984	hsa-miR-144	CLIP-seq
MIRT808985	hsa-miR-153	CLIP-seq
MIRT808986	hsa-miR-1827	CLIP-seq
MIRT808987	hsa-miR-186	CLIP-seq
MIRT808988	hsa-miR-194	CLIP-seq
MIRT808989	hsa-miR-197	CLIP-seq
MIRT808990	hsa-miR-199a-3p	CLIP-seq
MIRT808991	hsa-miR-199b-3p	CLIP-seq
MIRT808992	hsa-miR-2117	CLIP-seq
MIRT808993	hsa-miR-217	CLIP-seq
MIRT808994	hsa-miR-25	CLIP-seq
MIRT808995	hsa-miR-27a	CLIP-seq
MIRT808996	hsa-miR-27b	CLIP-seq
MIRT808997	hsa-miR-300	CLIP-seq
MIRT808998	hsa-miR-3065-5p	CLIP-seq
MIRT808999	hsa-miR-3117-3p	CLIP-seq
MIRT809000	hsa-miR-3129-5p	CLIP-seq
MIRT809001	hsa-miR-3133	CLIP-seq
MIRT809002	hsa-miR-3163	CLIP-seq
MIRT809003	hsa-miR-3165	CLIP-seq
MIRT809004	hsa-miR-3179	CLIP-seq
MIRT809005	hsa-miR-3187-5p	CLIP-seq
MIRT809006	hsa-miR-32	CLIP-seq
MIRT809007	hsa-miR-3200-5p	CLIP-seq
MIRT809008	hsa-miR-320a	CLIP-seq
MIRT809009	hsa-miR-320b	CLIP-seq
MIRT809010	hsa-miR-320c	CLIP-seq
MIRT809011	hsa-miR-320d	CLIP-seq
MIRT809012	hsa-miR-330-3p	CLIP-seq
MIRT809013	hsa-miR-342-3p	CLIP-seq
MIRT809014	hsa-miR-34b	CLIP-seq
MIRT809015	hsa-miR-3607-3p	CLIP-seq
MIRT809016	hsa-miR-3607-5p	CLIP-seq
MIRT809017	hsa-miR-3613-3p	CLIP-seq
MIRT809018	hsa-miR-3614-5p	CLIP-seq
MIRT809019	hsa-miR-3622a-5p	CLIP-seq
MIRT809020	hsa-miR-3622b-5p	CLIP-seq
MIRT809021	hsa-miR-363	CLIP-seq
MIRT809022	hsa-miR-3662	CLIP-seq
MIRT809023	hsa-miR-3664-5p	CLIP-seq
MIRT809024	hsa-miR-367	CLIP-seq
MIRT809025	hsa-miR-3671	CLIP-seq
MIRT809026	hsa-miR-3686	CLIP-seq
MIRT809027	hsa-miR-371-5p	CLIP-seq
MIRT809028	hsa-miR-371b-5p	CLIP-seq
MIRT809029	hsa-miR-377	CLIP-seq
MIRT809030	hsa-miR-381	CLIP-seq
MIRT809031	hsa-miR-3929	CLIP-seq
MIRT809032	hsa-miR-3942-3p	CLIP-seq
MIRT809033	hsa-miR-3945	CLIP-seq
MIRT809034	hsa-miR-412	CLIP-seq
MIRT809035	hsa-miR-4253	CLIP-seq
MIRT809036	hsa-miR-4273	CLIP-seq
MIRT809037	hsa-miR-4280	CLIP-seq
MIRT809038	hsa-miR-4303	CLIP-seq
MIRT809039	hsa-miR-4325	CLIP-seq
MIRT809040	hsa-miR-4419b	CLIP-seq
MIRT809041	hsa-miR-4423-3p	CLIP-seq
MIRT809042	hsa-miR-4429	CLIP-seq
MIRT809043	hsa-miR-4436b-5p	CLIP-seq
MIRT809044	hsa-miR-4474-5p	CLIP-seq
MIRT809045	hsa-miR-4478	CLIP-seq
MIRT809046	hsa-miR-448	CLIP-seq
MIRT809047	hsa-miR-4501	CLIP-seq
MIRT809048	hsa-miR-4504	CLIP-seq
MIRT809049	hsa-miR-4649-3p	CLIP-seq
MIRT809050	hsa-miR-4652-3p	CLIP-seq
MIRT809051	hsa-miR-4699-3p	CLIP-seq
MIRT809052	hsa-miR-4708-5p	CLIP-seq
MIRT809053	hsa-miR-4711-5p	CLIP-seq
MIRT809054	hsa-miR-4719	CLIP-seq
MIRT809055	hsa-miR-4722-5p	CLIP-seq
MIRT809056	hsa-miR-4738-3p	CLIP-seq
MIRT809057	hsa-miR-4766-5p	CLIP-seq
MIRT809058	hsa-miR-4768-3p	CLIP-seq
MIRT809059	hsa-miR-4770	CLIP-seq
MIRT809060	hsa-miR-4789-3p	CLIP-seq
MIRT809061	hsa-miR-4789-5p	CLIP-seq
MIRT809062	hsa-miR-485-3p	CLIP-seq
MIRT809063	hsa-miR-485-5p	CLIP-seq
MIRT809064	hsa-miR-495	CLIP-seq
MIRT809065	hsa-miR-508-5p	CLIP-seq
MIRT809066	hsa-miR-513a-5p	CLIP-seq
MIRT809067	hsa-miR-513c	CLIP-seq
MIRT809068	hsa-miR-514b-5p	CLIP-seq
MIRT809069	hsa-miR-539	CLIP-seq
MIRT809070	hsa-miR-541	CLIP-seq
MIRT809071	hsa-miR-542-3p	CLIP-seq
MIRT809072	hsa-miR-543	CLIP-seq
MIRT809073	hsa-miR-548o	CLIP-seq
MIRT809074	hsa-miR-552	CLIP-seq
MIRT809075	hsa-miR-577	CLIP-seq
MIRT809076	hsa-miR-582-5p	CLIP-seq
MIRT809077	hsa-miR-607	CLIP-seq
MIRT809078	hsa-miR-612	CLIP-seq
MIRT809079	hsa-miR-621	CLIP-seq
MIRT809080	hsa-miR-637	CLIP-seq
MIRT809081	hsa-miR-654-5p	CLIP-seq
MIRT809082	hsa-miR-661	CLIP-seq
MIRT809083	hsa-miR-766	CLIP-seq
MIRT809084	hsa-miR-873	CLIP-seq
MIRT809085	hsa-miR-92a	CLIP-seq
MIRT809086	hsa-miR-92b	CLIP-seq
MIRT809087	hsa-miR-940	CLIP-seq
MIRT1545619	hsa-miR-196a	CLIP-seq
MIRT1545620	hsa-miR-196b	CLIP-seq
MIRT1545621	hsa-miR-3143	CLIP-seq
MIRT1545622	hsa-miR-4803	CLIP-seq
MIRT809067	hsa-miR-513c	CLIP-seq
MIRT809068	hsa-miR-514b-5p	CLIP-seq
MIRT1545623	hsa-miR-548m	CLIP-seq
MIRT1938930	hsa-miR-1	CLIP-seq
MIRT808976	hsa-miR-1200	CLIP-seq
MIRT808978	hsa-miR-125a-3p	CLIP-seq
MIRT1938931	hsa-miR-1275	CLIP-seq
MIRT1938932	hsa-miR-1296	CLIP-seq
MIRT1938933	hsa-miR-140-3p	CLIP-seq
MIRT808983	hsa-miR-143	CLIP-seq
MIRT808985	hsa-miR-153	CLIP-seq
MIRT808987	hsa-miR-186	CLIP-seq
MIRT1938934	hsa-miR-18a	CLIP-seq
MIRT1938935	hsa-miR-18b	CLIP-seq
MIRT808988	hsa-miR-194	CLIP-seq
MIRT1545619	hsa-miR-196a	CLIP-seq
MIRT1545620	hsa-miR-196b	CLIP-seq
MIRT808990	hsa-miR-199a-3p	CLIP-seq
MIRT808991	hsa-miR-199b-3p	CLIP-seq
MIRT1938936	hsa-miR-19a	CLIP-seq
MIRT1938937	hsa-miR-19b	CLIP-seq
MIRT1938938	hsa-miR-206	CLIP-seq
MIRT1938939	hsa-miR-2114	CLIP-seq
MIRT808992	hsa-miR-2117	CLIP-seq
MIRT1938940	hsa-miR-24	CLIP-seq
MIRT808994	hsa-miR-25	CLIP-seq
MIRT1938941	hsa-miR-2909	CLIP-seq
MIRT1938942	hsa-miR-29a	CLIP-seq
MIRT1938943	hsa-miR-29b	CLIP-seq
MIRT1938944	hsa-miR-29c	CLIP-seq
MIRT1938945	hsa-miR-302f	CLIP-seq
MIRT1938946	hsa-miR-3065-3p	CLIP-seq
MIRT808998	hsa-miR-3065-5p	CLIP-seq
MIRT809000	hsa-miR-3129-5p	CLIP-seq
MIRT809001	hsa-miR-3133	CLIP-seq
MIRT1545621	hsa-miR-3143	CLIP-seq
MIRT1938947	hsa-miR-3166	CLIP-seq
MIRT809006	hsa-miR-32	CLIP-seq
MIRT809007	hsa-miR-3200-5p	CLIP-seq
MIRT809012	hsa-miR-330-3p	CLIP-seq
MIRT809014	hsa-miR-34b	CLIP-seq
MIRT1938948	hsa-miR-3606	CLIP-seq
MIRT809015	hsa-miR-3607-3p	CLIP-seq
MIRT809018	hsa-miR-3614-5p	CLIP-seq
MIRT809021	hsa-miR-363	CLIP-seq
MIRT809023	hsa-miR-3664-5p	CLIP-seq
MIRT809024	hsa-miR-367	CLIP-seq
MIRT809026	hsa-miR-3686	CLIP-seq
MIRT809027	hsa-miR-371-5p	CLIP-seq
MIRT809028	hsa-miR-371b-5p	CLIP-seq
MIRT1938949	hsa-miR-3973	CLIP-seq
MIRT1938950	hsa-miR-410	CLIP-seq
MIRT1938951	hsa-miR-4271	CLIP-seq
MIRT1938952	hsa-miR-4272	CLIP-seq
MIRT809036	hsa-miR-4273	CLIP-seq
MIRT1938953	hsa-miR-4292	CLIP-seq
MIRT1938954	hsa-miR-4297	CLIP-seq
MIRT809038	hsa-miR-4303	CLIP-seq
MIRT1938955	hsa-miR-4308	CLIP-seq
MIRT809039	hsa-miR-4325	CLIP-seq
MIRT1938956	hsa-miR-4435	CLIP-seq
MIRT809046	hsa-miR-448	CLIP-seq
MIRT1938957	hsa-miR-4512	CLIP-seq
MIRT1938958	hsa-miR-4525	CLIP-seq
MIRT1938959	hsa-miR-4540	CLIP-seq
MIRT809050	hsa-miR-4652-3p	CLIP-seq
MIRT1938960	hsa-miR-4665-5p	CLIP-seq
MIRT1938961	hsa-miR-4717-5p	CLIP-seq
MIRT809054	hsa-miR-4719	CLIP-seq
MIRT1938962	hsa-miR-4723-5p	CLIP-seq
MIRT1938963	hsa-miR-4725-3p	CLIP-seq
MIRT1938964	hsa-miR-4735-3p	CLIP-seq
MIRT809056	hsa-miR-4738-3p	CLIP-seq
MIRT1938965	hsa-miR-4755-3p	CLIP-seq
MIRT1938966	hsa-miR-4757-5p	CLIP-seq
MIRT809057	hsa-miR-4766-5p	CLIP-seq
MIRT809058	hsa-miR-4768-3p	CLIP-seq
MIRT809059	hsa-miR-4770	CLIP-seq
MIRT1938967	hsa-miR-4771	CLIP-seq
MIRT1938968	hsa-miR-4773	CLIP-seq
MIRT1938969	hsa-miR-4775	CLIP-seq
MIRT809060	hsa-miR-4789-3p	CLIP-seq
MIRT1938970	hsa-miR-4795-3p	CLIP-seq
MIRT1545622	hsa-miR-4803	CLIP-seq
MIRT809062	hsa-miR-485-3p	CLIP-seq
MIRT809064	hsa-miR-495	CLIP-seq
MIRT809065	hsa-miR-508-5p	CLIP-seq
MIRT1938971	hsa-miR-513b	CLIP-seq
MIRT809067	hsa-miR-513c	CLIP-seq
MIRT809068	hsa-miR-514b-5p	CLIP-seq
MIRT1938972	hsa-miR-526b	CLIP-seq
MIRT809072	hsa-miR-543	CLIP-seq
MIRT1938973	hsa-miR-548k	CLIP-seq
MIRT1545623	hsa-miR-548m	CLIP-seq
MIRT809074	hsa-miR-552	CLIP-seq
MIRT1938974	hsa-miR-613	CLIP-seq
MIRT1938975	hsa-miR-625	CLIP-seq
MIRT1938976	hsa-miR-633	CLIP-seq
MIRT809080	hsa-miR-637	CLIP-seq
MIRT1938977	hsa-miR-642b	CLIP-seq
MIRT809083	hsa-miR-766	CLIP-seq
MIRT1938978	hsa-miR-767-5p	CLIP-seq
MIRT809085	hsa-miR-92a	CLIP-seq
MIRT809086	hsa-miR-92b	CLIP-seq
MIRT1938979	hsa-miR-944	CLIP-seq
MIRT808975	hsa-miR-101	CLIP-seq
MIRT808976	hsa-miR-1200	CLIP-seq
MIRT808977	hsa-miR-1229	CLIP-seq
MIRT2178060	hsa-miR-1236	CLIP-seq
MIRT2178061	hsa-miR-1252	CLIP-seq
MIRT808978	hsa-miR-125a-3p	CLIP-seq
MIRT808980	hsa-miR-1285	CLIP-seq
MIRT1938932	hsa-miR-1296	CLIP-seq
MIRT808981	hsa-miR-1323	CLIP-seq
MIRT2178062	hsa-miR-133a	CLIP-seq
MIRT2178063	hsa-miR-133b	CLIP-seq
MIRT808982	hsa-miR-142-3p	CLIP-seq
MIRT808983	hsa-miR-143	CLIP-seq
MIRT808984	hsa-miR-144	CLIP-seq
MIRT808986	hsa-miR-1827	CLIP-seq
MIRT808987	hsa-miR-186	CLIP-seq
MIRT808988	hsa-miR-194	CLIP-seq
MIRT808989	hsa-miR-197	CLIP-seq
MIRT808990	hsa-miR-199a-3p	CLIP-seq
MIRT808991	hsa-miR-199b-3p	CLIP-seq
MIRT2178064	hsa-miR-2054	CLIP-seq
MIRT1938939	hsa-miR-2114	CLIP-seq
MIRT2178065	hsa-miR-2392	CLIP-seq
MIRT1938940	hsa-miR-24	CLIP-seq
MIRT808994	hsa-miR-25	CLIP-seq
MIRT808995	hsa-miR-27a	CLIP-seq
MIRT808996	hsa-miR-27b	CLIP-seq
MIRT1938941	hsa-miR-2909	CLIP-seq
MIRT1938942	hsa-miR-29a	CLIP-seq
MIRT1938943	hsa-miR-29b	CLIP-seq
MIRT1938944	hsa-miR-29c	CLIP-seq
MIRT808997	hsa-miR-300	CLIP-seq
MIRT1938946	hsa-miR-3065-3p	CLIP-seq
MIRT808998	hsa-miR-3065-5p	CLIP-seq
MIRT808999	hsa-miR-3117-3p	CLIP-seq
MIRT2178066	hsa-miR-3125	CLIP-seq
MIRT2178067	hsa-miR-3126-5p	CLIP-seq
MIRT809000	hsa-miR-3129-5p	CLIP-seq
MIRT809001	hsa-miR-3133	CLIP-seq
MIRT2178068	hsa-miR-3140-5p	CLIP-seq
MIRT2178069	hsa-miR-3145-3p	CLIP-seq
MIRT809003	hsa-miR-3165	CLIP-seq
MIRT809004	hsa-miR-3179	CLIP-seq
MIRT809005	hsa-miR-3187-5p	CLIP-seq
MIRT809006	hsa-miR-32	CLIP-seq
MIRT2178070	hsa-miR-3202	CLIP-seq
MIRT809008	hsa-miR-320a	CLIP-seq
MIRT809009	hsa-miR-320b	CLIP-seq
MIRT809010	hsa-miR-320c	CLIP-seq
MIRT809011	hsa-miR-320d	CLIP-seq
MIRT809012	hsa-miR-330-3p	CLIP-seq
MIRT809013	hsa-miR-342-3p	CLIP-seq
MIRT809014	hsa-miR-34b	CLIP-seq
MIRT809015	hsa-miR-3607-3p	CLIP-seq
MIRT809016	hsa-miR-3607-5p	CLIP-seq
MIRT809018	hsa-miR-3614-5p	CLIP-seq
MIRT2178071	hsa-miR-3620	CLIP-seq
MIRT2178072	hsa-miR-3622a-3p	CLIP-seq
MIRT809019	hsa-miR-3622a-5p	CLIP-seq
MIRT2178073	hsa-miR-3622b-3p	CLIP-seq
MIRT809020	hsa-miR-3622b-5p	CLIP-seq
MIRT809021	hsa-miR-363	CLIP-seq
MIRT809023	hsa-miR-3664-5p	CLIP-seq
MIRT809024	hsa-miR-367	CLIP-seq
MIRT809026	hsa-miR-3686	CLIP-seq
MIRT809027	hsa-miR-371-5p	CLIP-seq
MIRT809028	hsa-miR-371b-5p	CLIP-seq
MIRT2178074	hsa-miR-380	CLIP-seq
MIRT809030	hsa-miR-381	CLIP-seq
MIRT2178075	hsa-miR-3915	CLIP-seq
MIRT2178076	hsa-miR-3916	CLIP-seq
MIRT2178077	hsa-miR-3920	CLIP-seq
MIRT2178078	hsa-miR-3928	CLIP-seq
MIRT809031	hsa-miR-3929	CLIP-seq
MIRT809032	hsa-miR-3942-3p	CLIP-seq
MIRT809033	hsa-miR-3945	CLIP-seq
MIRT1938949	hsa-miR-3973	CLIP-seq
MIRT809035	hsa-miR-4253	CLIP-seq
MIRT2178079	hsa-miR-4261	CLIP-seq
MIRT1938952	hsa-miR-4272	CLIP-seq
MIRT2178080	hsa-miR-4276	CLIP-seq
MIRT809037	hsa-miR-4280	CLIP-seq
MIRT1938953	hsa-miR-4292	CLIP-seq
MIRT2178081	hsa-miR-4293	CLIP-seq
MIRT1938955	hsa-miR-4308	CLIP-seq
MIRT2178082	hsa-miR-4311	CLIP-seq
MIRT2178083	hsa-miR-4317	CLIP-seq
MIRT809039	hsa-miR-4325	CLIP-seq
MIRT809040	hsa-miR-4419b	CLIP-seq
MIRT2178084	hsa-miR-4420	CLIP-seq
MIRT809041	hsa-miR-4423-3p	CLIP-seq
MIRT809042	hsa-miR-4429	CLIP-seq
MIRT1938956	hsa-miR-4435	CLIP-seq
MIRT809043	hsa-miR-4436b-5p	CLIP-seq
MIRT2178085	hsa-miR-4452	CLIP-seq
MIRT809044	hsa-miR-4474-5p	CLIP-seq
MIRT809045	hsa-miR-4478	CLIP-seq
MIRT809047	hsa-miR-4501	CLIP-seq
MIRT1938957	hsa-miR-4512	CLIP-seq
MIRT2178086	hsa-miR-4533	CLIP-seq
MIRT1938959	hsa-miR-4540	CLIP-seq
MIRT809049	hsa-miR-4649-3p	CLIP-seq
MIRT2178087	hsa-miR-4653-3p	CLIP-seq
MIRT2178088	hsa-miR-4659a-3p	CLIP-seq
MIRT2178089	hsa-miR-4659b-3p	CLIP-seq
MIRT2178090	hsa-miR-4680-3p	CLIP-seq
MIRT2178091	hsa-miR-4684-5p	CLIP-seq
MIRT809051	hsa-miR-4699-3p	CLIP-seq
MIRT1938961	hsa-miR-4717-5p	CLIP-seq
MIRT809054	hsa-miR-4719	CLIP-seq
MIRT809055	hsa-miR-4722-5p	CLIP-seq
MIRT809056	hsa-miR-4738-3p	CLIP-seq
MIRT1938965	hsa-miR-4755-3p	CLIP-seq
MIRT1938966	hsa-miR-4757-5p	CLIP-seq
MIRT809057	hsa-miR-4766-5p	CLIP-seq
MIRT809058	hsa-miR-4768-3p	CLIP-seq
MIRT809059	hsa-miR-4770	CLIP-seq
MIRT1938968	hsa-miR-4773	CLIP-seq
MIRT2178092	hsa-miR-4774-5p	CLIP-seq
MIRT1938969	hsa-miR-4775	CLIP-seq
MIRT2178093	hsa-miR-4786-5p	CLIP-seq
MIRT809060	hsa-miR-4789-3p	CLIP-seq
MIRT809061	hsa-miR-4789-5p	CLIP-seq
MIRT809063	hsa-miR-485-5p	CLIP-seq
MIRT2178094	hsa-miR-487a	CLIP-seq
MIRT809064	hsa-miR-495	CLIP-seq
MIRT809065	hsa-miR-508-5p	CLIP-seq
MIRT2178095	hsa-miR-513a-3p	CLIP-seq
MIRT809066	hsa-miR-513a-5p	CLIP-seq
MIRT1938971	hsa-miR-513b	CLIP-seq
MIRT2178096	hsa-miR-516b	CLIP-seq
MIRT2178097	hsa-miR-518a-5p	CLIP-seq
MIRT1938972	hsa-miR-526b	CLIP-seq
MIRT2178098	hsa-miR-527	CLIP-seq
MIRT809070	hsa-miR-541	CLIP-seq
MIRT809072	hsa-miR-543	CLIP-seq
MIRT2178099	hsa-miR-544b	CLIP-seq
MIRT2178100	hsa-miR-548c-3p	CLIP-seq
MIRT1938973	hsa-miR-548k	CLIP-seq
MIRT809073	hsa-miR-548o	CLIP-seq
MIRT809074	hsa-miR-552	CLIP-seq
MIRT809075	hsa-miR-577	CLIP-seq
MIRT809076	hsa-miR-582-5p	CLIP-seq
MIRT2178101	hsa-miR-583	CLIP-seq
MIRT809078	hsa-miR-612	CLIP-seq
MIRT1938976	hsa-miR-633	CLIP-seq
MIRT809081	hsa-miR-654-5p	CLIP-seq
MIRT809082	hsa-miR-661	CLIP-seq
MIRT2178102	hsa-miR-664	CLIP-seq
MIRT2178103	hsa-miR-671-5p	CLIP-seq
MIRT809083	hsa-miR-766	CLIP-seq
MIRT1938978	hsa-miR-767-5p	CLIP-seq
MIRT809085	hsa-miR-92a	CLIP-seq
MIRT809086	hsa-miR-92b	CLIP-seq
MIRT809087	hsa-miR-940	CLIP-seq
MIRT2178064	hsa-miR-2054	CLIP-seq
MIRT808995	hsa-miR-27a	CLIP-seq
MIRT808996	hsa-miR-27b	CLIP-seq
MIRT1938942	hsa-miR-29a	CLIP-seq
MIRT1938943	hsa-miR-29b	CLIP-seq
MIRT1938944	hsa-miR-29c	CLIP-seq
MIRT1938946	hsa-miR-3065-3p	CLIP-seq
MIRT1938978	hsa-miR-767-5p	CLIP-seq
MIRT808978	hsa-miR-125a-3p	CLIP-seq
MIRT808988	hsa-miR-194	CLIP-seq
MIRT809004	hsa-miR-3179	CLIP-seq
MIRT809015	hsa-miR-3607-3p	CLIP-seq
MIRT809023	hsa-miR-3664-5p	CLIP-seq
MIRT809026	hsa-miR-3686	CLIP-seq
MIRT809074	hsa-miR-552	CLIP-seq
MIRT808986	hsa-miR-1827	CLIP-seq
MIRT809014	hsa-miR-34b	CLIP-seq
MIRT809018	hsa-miR-3614-5p	CLIP-seq
MIRT809031	hsa-miR-3929	CLIP-seq
MIRT809040	hsa-miR-4419b	CLIP-seq
MIRT809045	hsa-miR-4478	CLIP-seq
MIRT809049	hsa-miR-4649-3p	CLIP-seq
MIRT809055	hsa-miR-4722-5p	CLIP-seq
MIRT809058	hsa-miR-4768-3p	CLIP-seq
MIRT809063	hsa-miR-485-5p	CLIP-seq
MIRT809070	hsa-miR-541	CLIP-seq
MIRT809081	hsa-miR-654-5p	CLIP-seq
MIRT809087	hsa-miR-940	CLIP-seq
MIRT808986	hsa-miR-1827	CLIP-seq
MIRT809014	hsa-miR-34b	CLIP-seq
MIRT809018	hsa-miR-3614-5p	CLIP-seq
MIRT809031	hsa-miR-3929	CLIP-seq
MIRT809040	hsa-miR-4419b	CLIP-seq
MIRT809045	hsa-miR-4478	CLIP-seq
MIRT809049	hsa-miR-4649-3p	CLIP-seq
MIRT809055	hsa-miR-4722-5p	CLIP-seq
MIRT809058	hsa-miR-4768-3p	CLIP-seq
MIRT809063	hsa-miR-485-5p	CLIP-seq
MIRT809087	hsa-miR-940	CLIP-seq
MIRT2481717	hsa-miR-1207-3p	CLIP-seq
MIRT2481718	hsa-miR-1225-5p	CLIP-seq
MIRT808978	hsa-miR-125a-3p	CLIP-seq
MIRT2481719	hsa-miR-1265	CLIP-seq
MIRT808980	hsa-miR-1285	CLIP-seq
MIRT2481720	hsa-miR-1298	CLIP-seq
MIRT808981	hsa-miR-1323	CLIP-seq
MIRT2178062	hsa-miR-133a	CLIP-seq
MIRT2178063	hsa-miR-133b	CLIP-seq
MIRT2481721	hsa-miR-138	CLIP-seq
MIRT808986	hsa-miR-1827	CLIP-seq
MIRT1938934	hsa-miR-18a	CLIP-seq
MIRT1938935	hsa-miR-18b	CLIP-seq
MIRT2481722	hsa-miR-1912	CLIP-seq
MIRT808988	hsa-miR-194	CLIP-seq
MIRT808990	hsa-miR-199a-3p	CLIP-seq
MIRT808991	hsa-miR-199b-3p	CLIP-seq
MIRT1938936	hsa-miR-19a	CLIP-seq
MIRT1938937	hsa-miR-19b	CLIP-seq
MIRT2481723	hsa-miR-200b	CLIP-seq
MIRT2481724	hsa-miR-200c	CLIP-seq
MIRT2178064	hsa-miR-2054	CLIP-seq
MIRT2481725	hsa-miR-2115	CLIP-seq
MIRT2481726	hsa-miR-219-5p	CLIP-seq
MIRT2178065	hsa-miR-2392	CLIP-seq
MIRT808994	hsa-miR-25	CLIP-seq
MIRT808995	hsa-miR-27a	CLIP-seq
MIRT808996	hsa-miR-27b	CLIP-seq
MIRT1938945	hsa-miR-302f	CLIP-seq
MIRT2481727	hsa-miR-3064-3p	CLIP-seq
MIRT808998	hsa-miR-3065-5p	CLIP-seq
MIRT809000	hsa-miR-3129-5p	CLIP-seq
MIRT809001	hsa-miR-3133	CLIP-seq
MIRT2178069	hsa-miR-3145-3p	CLIP-seq
MIRT2481728	hsa-miR-3146	CLIP-seq
MIRT809002	hsa-miR-3163	CLIP-seq
MIRT809003	hsa-miR-3165	CLIP-seq
MIRT2481729	hsa-miR-3176	CLIP-seq
MIRT809004	hsa-miR-3179	CLIP-seq
MIRT2481730	hsa-miR-3187-3p	CLIP-seq
MIRT809005	hsa-miR-3187-5p	CLIP-seq
MIRT809006	hsa-miR-32	CLIP-seq
MIRT809007	hsa-miR-3200-5p	CLIP-seq
MIRT2481731	hsa-miR-326	CLIP-seq
MIRT2481732	hsa-miR-330-5p	CLIP-seq
MIRT2481733	hsa-miR-337-3p	CLIP-seq
MIRT809014	hsa-miR-34b	CLIP-seq
MIRT2481734	hsa-miR-34c-3p	CLIP-seq
MIRT809015	hsa-miR-3607-3p	CLIP-seq
MIRT809017	hsa-miR-3613-3p	CLIP-seq
MIRT809018	hsa-miR-3614-5p	CLIP-seq
MIRT2178072	hsa-miR-3622a-3p	CLIP-seq
MIRT2178073	hsa-miR-3622b-3p	CLIP-seq
MIRT809020	hsa-miR-3622b-5p	CLIP-seq
MIRT809021	hsa-miR-363	CLIP-seq
MIRT2481735	hsa-miR-365	CLIP-seq
MIRT2481736	hsa-miR-3653	CLIP-seq
MIRT2481737	hsa-miR-3658	CLIP-seq
MIRT809023	hsa-miR-3664-5p	CLIP-seq
MIRT809024	hsa-miR-367	CLIP-seq
MIRT809025	hsa-miR-3671	CLIP-seq
MIRT809026	hsa-miR-3686	CLIP-seq
MIRT2481738	hsa-miR-3688-3p	CLIP-seq
MIRT2481739	hsa-miR-3691-5p	CLIP-seq
MIRT809029	hsa-miR-377	CLIP-seq
MIRT2178074	hsa-miR-380	CLIP-seq
MIRT2481740	hsa-miR-384	CLIP-seq
MIRT2481741	hsa-miR-3922-3p	CLIP-seq
MIRT809031	hsa-miR-3929	CLIP-seq
MIRT2481742	hsa-miR-3935	CLIP-seq
MIRT809033	hsa-miR-3945	CLIP-seq
MIRT809034	hsa-miR-412	CLIP-seq
MIRT2481743	hsa-miR-4251	CLIP-seq
MIRT2481744	hsa-miR-4252	CLIP-seq
MIRT809035	hsa-miR-4253	CLIP-seq
MIRT2178079	hsa-miR-4261	CLIP-seq
MIRT2178080	hsa-miR-4276	CLIP-seq
MIRT2481745	hsa-miR-429	CLIP-seq
MIRT2178081	hsa-miR-4293	CLIP-seq
MIRT809038	hsa-miR-4303	CLIP-seq
MIRT2178083	hsa-miR-4317	CLIP-seq
MIRT809039	hsa-miR-4325	CLIP-seq
MIRT2481746	hsa-miR-4329	CLIP-seq
MIRT2481747	hsa-miR-4330	CLIP-seq
MIRT809040	hsa-miR-4419b	CLIP-seq
MIRT2481748	hsa-miR-4445	CLIP-seq
MIRT2481749	hsa-miR-4455	CLIP-seq
MIRT2481750	hsa-miR-4464	CLIP-seq
MIRT2481751	hsa-miR-4477b	CLIP-seq
MIRT809045	hsa-miR-4478	CLIP-seq
MIRT2481752	hsa-miR-4490	CLIP-seq
MIRT2481753	hsa-miR-4491	CLIP-seq
MIRT2481754	hsa-miR-4495	CLIP-seq
MIRT2481755	hsa-miR-4511	CLIP-seq
MIRT2481756	hsa-miR-4528	CLIP-seq
MIRT2481757	hsa-miR-4529-5p	CLIP-seq
MIRT1938959	hsa-miR-4540	CLIP-seq
MIRT2481758	hsa-miR-4641	CLIP-seq
MIRT809049	hsa-miR-4649-3p	CLIP-seq
MIRT809050	hsa-miR-4652-3p	CLIP-seq
MIRT2481759	hsa-miR-4657	CLIP-seq
MIRT2178088	hsa-miR-4659a-3p	CLIP-seq
MIRT2178089	hsa-miR-4659b-3p	CLIP-seq
MIRT2481760	hsa-miR-4662a-5p	CLIP-seq
MIRT2481761	hsa-miR-4676-5p	CLIP-seq
MIRT2481762	hsa-miR-4690-3p	CLIP-seq
MIRT2481763	hsa-miR-4699-5p	CLIP-seq
MIRT2481764	hsa-miR-4709-3p	CLIP-seq
MIRT2481765	hsa-miR-4715-3p	CLIP-seq
MIRT2481766	hsa-miR-4716-5p	CLIP-seq
MIRT809055	hsa-miR-4722-5p	CLIP-seq
MIRT2481767	hsa-miR-4728-3p	CLIP-seq
MIRT1938964	hsa-miR-4735-3p	CLIP-seq
MIRT809056	hsa-miR-4738-3p	CLIP-seq
MIRT2481768	hsa-miR-4748	CLIP-seq
MIRT2481769	hsa-miR-4752	CLIP-seq
MIRT809057	hsa-miR-4766-5p	CLIP-seq
MIRT809058	hsa-miR-4768-3p	CLIP-seq
MIRT2178092	hsa-miR-4774-5p	CLIP-seq
MIRT1938969	hsa-miR-4775	CLIP-seq
MIRT2481770	hsa-miR-4778-5p	CLIP-seq
MIRT2481771	hsa-miR-4782-3p	CLIP-seq
MIRT2178093	hsa-miR-4786-5p	CLIP-seq
MIRT1545622	hsa-miR-4803	CLIP-seq
MIRT809062	hsa-miR-485-3p	CLIP-seq
MIRT809063	hsa-miR-485-5p	CLIP-seq
MIRT2178094	hsa-miR-487a	CLIP-seq
MIRT2481772	hsa-miR-491-3p	CLIP-seq
MIRT2481773	hsa-miR-508-3p	CLIP-seq
MIRT809065	hsa-miR-508-5p	CLIP-seq
MIRT809066	hsa-miR-513a-5p	CLIP-seq
MIRT809069	hsa-miR-539	CLIP-seq
MIRT809070	hsa-miR-541	CLIP-seq
MIRT809072	hsa-miR-543	CLIP-seq
MIRT2178099	hsa-miR-544b	CLIP-seq
MIRT2481774	hsa-miR-548a-5p	CLIP-seq
MIRT2481775	hsa-miR-548aa	CLIP-seq
MIRT2481776	hsa-miR-548ab	CLIP-seq
MIRT2481777	hsa-miR-548ac	CLIP-seq
MIRT2481778	hsa-miR-548ae	CLIP-seq
MIRT2481779	hsa-miR-548aj	CLIP-seq
MIRT2481780	hsa-miR-548ak	CLIP-seq
MIRT2481781	hsa-miR-548am	CLIP-seq
MIRT2481782	hsa-miR-548b-5p	CLIP-seq
MIRT2178100	hsa-miR-548c-3p	CLIP-seq
MIRT2481783	hsa-miR-548c-5p	CLIP-seq
MIRT2481784	hsa-miR-548d-3p	CLIP-seq
MIRT2481785	hsa-miR-548d-5p	CLIP-seq
MIRT2481786	hsa-miR-548h	CLIP-seq
MIRT2481787	hsa-miR-548i	CLIP-seq
MIRT2481788	hsa-miR-548j	CLIP-seq
MIRT1545623	hsa-miR-548m	CLIP-seq
MIRT809073	hsa-miR-548o	CLIP-seq
MIRT2481789	hsa-miR-548w	CLIP-seq
MIRT2481790	hsa-miR-548x	CLIP-seq
MIRT2481791	hsa-miR-548y	CLIP-seq
MIRT2481792	hsa-miR-548z	CLIP-seq
MIRT809074	hsa-miR-552	CLIP-seq
MIRT2481793	hsa-miR-559	CLIP-seq
MIRT2481794	hsa-miR-575	CLIP-seq
MIRT2481795	hsa-miR-582-3p	CLIP-seq
MIRT2178101	hsa-miR-583	CLIP-seq
MIRT2481796	hsa-miR-595	CLIP-seq
MIRT809077	hsa-miR-607	CLIP-seq
MIRT809078	hsa-miR-612	CLIP-seq
MIRT2481797	hsa-miR-616	CLIP-seq
MIRT809079	hsa-miR-621	CLIP-seq
MIRT2481798	hsa-miR-628-3p	CLIP-seq
MIRT1938976	hsa-miR-633	CLIP-seq
MIRT2481799	hsa-miR-651	CLIP-seq
MIRT809081	hsa-miR-654-5p	CLIP-seq
MIRT809082	hsa-miR-661	CLIP-seq
MIRT2481800	hsa-miR-663b	CLIP-seq
MIRT2178102	hsa-miR-664	CLIP-seq
MIRT809083	hsa-miR-766	CLIP-seq
MIRT809085	hsa-miR-92a	CLIP-seq
MIRT809086	hsa-miR-92b	CLIP-seq
MIRT2481801	hsa-miR-936	CLIP-seq
MIRT809087	hsa-miR-940	CLIP-seq
MIRT2481802	hsa-miR-942	CLIP-seq
MIRT2481717	hsa-miR-1207-3p	CLIP-seq
MIRT2481718	hsa-miR-1225-5p	CLIP-seq
MIRT808978	hsa-miR-125a-3p	CLIP-seq
MIRT2481719	hsa-miR-1265	CLIP-seq
MIRT808980	hsa-miR-1285	CLIP-seq
MIRT2481720	hsa-miR-1298	CLIP-seq
MIRT808981	hsa-miR-1323	CLIP-seq
MIRT2178062	hsa-miR-133a	CLIP-seq
MIRT2178063	hsa-miR-133b	CLIP-seq
MIRT2481721	hsa-miR-138	CLIP-seq
MIRT808986	hsa-miR-1827	CLIP-seq
MIRT1938934	hsa-miR-18a	CLIP-seq
MIRT1938935	hsa-miR-18b	CLIP-seq
MIRT2481722	hsa-miR-1912	CLIP-seq
MIRT808988	hsa-miR-194	CLIP-seq
MIRT808990	hsa-miR-199a-3p	CLIP-seq
MIRT808991	hsa-miR-199b-3p	CLIP-seq
MIRT1938936	hsa-miR-19a	CLIP-seq
MIRT1938937	hsa-miR-19b	CLIP-seq
MIRT2481723	hsa-miR-200b	CLIP-seq
MIRT2481724	hsa-miR-200c	CLIP-seq
MIRT2178064	hsa-miR-2054	CLIP-seq
MIRT2481725	hsa-miR-2115	CLIP-seq
MIRT2481726	hsa-miR-219-5p	CLIP-seq
MIRT2178065	hsa-miR-2392	CLIP-seq
MIRT808994	hsa-miR-25	CLIP-seq
MIRT808995	hsa-miR-27a	CLIP-seq
MIRT808996	hsa-miR-27b	CLIP-seq
MIRT1938945	hsa-miR-302f	CLIP-seq
MIRT2481727	hsa-miR-3064-3p	CLIP-seq
MIRT808998	hsa-miR-3065-5p	CLIP-seq
MIRT809000	hsa-miR-3129-5p	CLIP-seq
MIRT809001	hsa-miR-3133	CLIP-seq
MIRT2481728	hsa-miR-3146	CLIP-seq
MIRT809002	hsa-miR-3163	CLIP-seq
MIRT809003	hsa-miR-3165	CLIP-seq
MIRT2481729	hsa-miR-3176	CLIP-seq
MIRT809004	hsa-miR-3179	CLIP-seq
MIRT2481730	hsa-miR-3187-3p	CLIP-seq
MIRT809005	hsa-miR-3187-5p	CLIP-seq
MIRT809006	hsa-miR-32	CLIP-seq
MIRT809007	hsa-miR-3200-5p	CLIP-seq
MIRT2481731	hsa-miR-326	CLIP-seq
MIRT2481732	hsa-miR-330-5p	CLIP-seq
MIRT2481733	hsa-miR-337-3p	CLIP-seq
MIRT809014	hsa-miR-34b	CLIP-seq
MIRT2481734	hsa-miR-34c-3p	CLIP-seq
MIRT809015	hsa-miR-3607-3p	CLIP-seq
MIRT809017	hsa-miR-3613-3p	CLIP-seq
MIRT809018	hsa-miR-3614-5p	CLIP-seq
MIRT2178072	hsa-miR-3622a-3p	CLIP-seq
MIRT2178073	hsa-miR-3622b-3p	CLIP-seq
MIRT809020	hsa-miR-3622b-5p	CLIP-seq
MIRT809021	hsa-miR-363	CLIP-seq
MIRT2481735	hsa-miR-365	CLIP-seq
MIRT2481736	hsa-miR-3653	CLIP-seq
MIRT2481737	hsa-miR-3658	CLIP-seq
MIRT809022	hsa-miR-3662	CLIP-seq
MIRT809023	hsa-miR-3664-5p	CLIP-seq
MIRT809024	hsa-miR-367	CLIP-seq
MIRT809025	hsa-miR-3671	CLIP-seq
MIRT809026	hsa-miR-3686	CLIP-seq
MIRT2481738	hsa-miR-3688-3p	CLIP-seq
MIRT2481739	hsa-miR-3691-5p	CLIP-seq
MIRT809029	hsa-miR-377	CLIP-seq
MIRT2178074	hsa-miR-380	CLIP-seq
MIRT2481740	hsa-miR-384	CLIP-seq
MIRT2481741	hsa-miR-3922-3p	CLIP-seq
MIRT809031	hsa-miR-3929	CLIP-seq
MIRT2481742	hsa-miR-3935	CLIP-seq
MIRT809033	hsa-miR-3945	CLIP-seq
MIRT809034	hsa-miR-412	CLIP-seq
MIRT2481743	hsa-miR-4251	CLIP-seq
MIRT2481744	hsa-miR-4252	CLIP-seq
MIRT809035	hsa-miR-4253	CLIP-seq
MIRT2178079	hsa-miR-4261	CLIP-seq
MIRT2178080	hsa-miR-4276	CLIP-seq
MIRT2481745	hsa-miR-429	CLIP-seq
MIRT2178081	hsa-miR-4293	CLIP-seq
MIRT809038	hsa-miR-4303	CLIP-seq
MIRT2178083	hsa-miR-4317	CLIP-seq
MIRT809039	hsa-miR-4325	CLIP-seq
MIRT2481746	hsa-miR-4329	CLIP-seq
MIRT2481747	hsa-miR-4330	CLIP-seq
MIRT809040	hsa-miR-4419b	CLIP-seq
MIRT2481748	hsa-miR-4445	CLIP-seq
MIRT2481749	hsa-miR-4455	CLIP-seq
MIRT2481750	hsa-miR-4464	CLIP-seq
MIRT2481751	hsa-miR-4477b	CLIP-seq
MIRT809045	hsa-miR-4478	CLIP-seq
MIRT2481752	hsa-miR-4490	CLIP-seq
MIRT2481753	hsa-miR-4491	CLIP-seq
MIRT2481754	hsa-miR-4495	CLIP-seq
MIRT2481755	hsa-miR-4511	CLIP-seq
MIRT2481756	hsa-miR-4528	CLIP-seq
MIRT2481757	hsa-miR-4529-5p	CLIP-seq
MIRT1938959	hsa-miR-4540	CLIP-seq
MIRT2481758	hsa-miR-4641	CLIP-seq
MIRT809049	hsa-miR-4649-3p	CLIP-seq
MIRT809050	hsa-miR-4652-3p	CLIP-seq
MIRT2481759	hsa-miR-4657	CLIP-seq
MIRT2178088	hsa-miR-4659a-3p	CLIP-seq
MIRT2178089	hsa-miR-4659b-3p	CLIP-seq
MIRT2481761	hsa-miR-4676-5p	CLIP-seq
MIRT2481762	hsa-miR-4690-3p	CLIP-seq
MIRT2481763	hsa-miR-4699-5p	CLIP-seq
MIRT2481764	hsa-miR-4709-3p	CLIP-seq
MIRT809055	hsa-miR-4722-5p	CLIP-seq
MIRT2481767	hsa-miR-4728-3p	CLIP-seq
MIRT1938964	hsa-miR-4735-3p	CLIP-seq
MIRT809056	hsa-miR-4738-3p	CLIP-seq
MIRT2481768	hsa-miR-4748	CLIP-seq
MIRT2481769	hsa-miR-4752	CLIP-seq
MIRT809058	hsa-miR-4768-3p	CLIP-seq
MIRT2178092	hsa-miR-4774-5p	CLIP-seq
MIRT1938969	hsa-miR-4775	CLIP-seq
MIRT2481770	hsa-miR-4778-5p	CLIP-seq
MIRT2481771	hsa-miR-4782-3p	CLIP-seq
MIRT2178093	hsa-miR-4786-5p	CLIP-seq
MIRT1545622	hsa-miR-4803	CLIP-seq
MIRT809062	hsa-miR-485-3p	CLIP-seq
MIRT809063	hsa-miR-485-5p	CLIP-seq
MIRT2178094	hsa-miR-487a	CLIP-seq
MIRT2481772	hsa-miR-491-3p	CLIP-seq
MIRT2481773	hsa-miR-508-3p	CLIP-seq
MIRT809065	hsa-miR-508-5p	CLIP-seq
MIRT809066	hsa-miR-513a-5p	CLIP-seq
MIRT809069	hsa-miR-539	CLIP-seq
MIRT809070	hsa-miR-541	CLIP-seq
MIRT809072	hsa-miR-543	CLIP-seq
MIRT2481774	hsa-miR-548a-5p	CLIP-seq
MIRT2481775	hsa-miR-548aa	CLIP-seq
MIRT2481776	hsa-miR-548ab	CLIP-seq
MIRT2481777	hsa-miR-548ac	CLIP-seq
MIRT2481778	hsa-miR-548ae	CLIP-seq
MIRT2481779	hsa-miR-548aj	CLIP-seq
MIRT2481780	hsa-miR-548ak	CLIP-seq
MIRT2481781	hsa-miR-548am	CLIP-seq
MIRT2481782	hsa-miR-548b-5p	CLIP-seq
MIRT2178100	hsa-miR-548c-3p	CLIP-seq
MIRT2481783	hsa-miR-548c-5p	CLIP-seq
MIRT2481784	hsa-miR-548d-3p	CLIP-seq
MIRT2481785	hsa-miR-548d-5p	CLIP-seq
MIRT2481786	hsa-miR-548h	CLIP-seq
MIRT2481787	hsa-miR-548i	CLIP-seq
MIRT2481788	hsa-miR-548j	CLIP-seq
MIRT1545623	hsa-miR-548m	CLIP-seq
MIRT809073	hsa-miR-548o	CLIP-seq
MIRT2481789	hsa-miR-548w	CLIP-seq
MIRT2481790	hsa-miR-548x	CLIP-seq
MIRT2481791	hsa-miR-548y	CLIP-seq
MIRT2481792	hsa-miR-548z	CLIP-seq
MIRT809074	hsa-miR-552	CLIP-seq
MIRT2481793	hsa-miR-559	CLIP-seq
MIRT2481794	hsa-miR-575	CLIP-seq
MIRT2481795	hsa-miR-582-3p	CLIP-seq
MIRT2481796	hsa-miR-595	CLIP-seq
MIRT809077	hsa-miR-607	CLIP-seq
MIRT809078	hsa-miR-612	CLIP-seq
MIRT2481797	hsa-miR-616	CLIP-seq
MIRT809079	hsa-miR-621	CLIP-seq
MIRT2481798	hsa-miR-628-3p	CLIP-seq
MIRT1938976	hsa-miR-633	CLIP-seq
MIRT2481799	hsa-miR-651	CLIP-seq
MIRT809081	hsa-miR-654-5p	CLIP-seq
MIRT2481800	hsa-miR-663b	CLIP-seq
MIRT2178102	hsa-miR-664	CLIP-seq
MIRT809083	hsa-miR-766	CLIP-seq
MIRT809085	hsa-miR-92a	CLIP-seq
MIRT809086	hsa-miR-92b	CLIP-seq
MIRT2481801	hsa-miR-936	CLIP-seq
MIRT809087	hsa-miR-940	CLIP-seq
MIRT2481802	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000166	Function	Nucleotide binding	IEA
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	IDA	33065002
GO:0005515	Function	Protein binding	IPI	23035048, 33208464
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IC	32001091
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS	8463241
GO:0005902	Component	Microvillus	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	28296633
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007042	Process	Lysosomal lumen acidification	IC	32001091, 33065002
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0016020	Component	Membrane	IDA	33065002
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016469	Component	Proton-transporting two-sector ATPase complex	TAS	8463241
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0030141	Component	Secretory granule	IDA	23035048
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0033180	Component	Proton-transporting V-type ATPase, V1 domain	IEA
GO:0036295	Process	Cellular response to increased oxygen levels	IMP	28296633
GO:0042592	Process	Homeostatic process	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IBA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0048388	Process	Endosomal lumen acidification	NAS	32001091
GO:0051452	Process	Intracellular pH reduction	NAS	32001091
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098850	Component	Extrinsic component of synaptic vesicle membrane	IEA
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IC	33065002
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	33065002
GO:1904949	Component	ATPase complex	IEA

Other IDs

• MIM: 607027
• HGNC: 851
• e!Ensembl: ENSG00000114573

Protein

• UniProt ID: P38606
• Protein name: V-type proton ATPase catalytic subunit A (V-ATPase subunit A) (EC 7.1.2.2) (V-ATPase 69 kDa subunit) (Vacuolar ATPase isoform VA68) (Vacuolar proton pump subunit alpha)
• Protein function: Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241). V-ATPase is r
• PDB: 6WLZ, 6WM2, 6WM3, 6WM4, 7U4T, 7UNF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02874	ATP-synt_ab_N	21 → 83	ATP synthase alpha/beta family, beta-barrel domain	Domain
  PF16886	ATP-synt_ab_Xtn	99 → 221	ATPsynthase alpha/beta subunit N-term extension	Family
  PF00006	ATP-synt_ab	230 → 455	ATP synthase alpha/beta family, nucleotide-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: High expression in the skin. {ECO:0000269|PubMed:28065471}.
• Sequence:

  MDFSKLPKILDEDKESTFGYVHGVSGPVVTACDMAGAAMYELVRVGHSELVGEIIRLEGD
  MATIQVYEETSGVSVGDPVLRTGKPLSVELGPGIMGAIFDGIQRPLSDISSQTQSIYIPR
  GVNVSALSRDIKWDFTPCKNLRVGSHITGGDIYGIVSENSLIKHKIMLPPRNRGTVTYIA
  PPGNYDTSDVVLELEFEGVKEKFTMVQVWPVRQVRPVTEKLPANHPLLTGQRVLDALFPC
  VQGGTTAIPGAFGCGKTVISQSLSKYSNSDVIIYVGCGERGNEMSEVLRDFPELTMEVDG
  KVESIMKRTALVANTSNMPVAAREASIYTGITLSEYFRDMGYHVSMMADSTSRWAEALRE
  ISGRLAEMPADSGYPAYLGARLASFYERAGRVKCLGNPEREGSVSIVGAVSPPGGDFSDP
  VTSATLGIVQVFWGLDKKLAQRKHFPSVNWLISYSKYMRALDEYYDKHFTEFVPLRTKAK
  EILQEEEDLAEIVQLVGKASLAETDKITLEVAKLIKDDFLQQNGYTPYDRFCPFYKTVGM
  LSNMIAFYDMARRAVETTAQSDNKITWSIIREHMGDILYKLSSMKFKDPLKDGEAKIKSD
  YAQLLEDMQNAFRSLED

• Sequence length: 617

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis

Reactome:

ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport

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 recessive cutis laxa type 2D	Likely pathogenic; Pathogenic	rs2549719217, rs1060505037	RCV003389392 RCV000477689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral visual impairment and intellectual disability	Likely pathogenic; Pathogenic	rs869312870	RCV000210381	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 93	Likely pathogenic; Pathogenic	rs1709263798, rs2108033397, rs2108034196, rs2549723939, rs2549723925, rs2549725080, rs2549719217, rs1553709855, rs1553710664, rs1553709380, rs1553710694, rs1559759089, rs1709072898	RCV001330826 RCV002255188 RCV003336498 RCV002305680 RCV002305681 RCV003311604 RCV003389392 RCV000656504 RCV000656505 RCV000656506 RCV000656507 RCV000708561 RCV001249680	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Encephalopathy	Likely pathogenic	rs2108033397	RCV001526547	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATP6V1A-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIN-DEPENDENT KINASE-LIKE 5 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33476559	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33981384	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	35675510	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive cutis laxa type 2, classic type	Cutis Laxa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35675510, 37574426	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36322753	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35945960	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	33320377	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31024853		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	33320377	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis laxa	Pubtator	33320377, 37574426	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa Autosomal Recessive Type I	Cutis laxa	Pubtator	33320377	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa, Autosomal Recessive, Type IIA	Cutis Laxa	ORPHANET_DG	28065471		★☆☆☆☆ Found in Text Mining only
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	Cutis Laxa	ORPHANET_DG	28065471		★☆☆☆☆ Found in Text Mining only
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	Cutis Laxa	UNIPROT_DG	28065471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	Cutis Laxa	ORPHANET_DG	28065471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	Cutis Laxa	GENOMICS_ENGLAND_DG	28065471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	Cutis Laxa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	Cutis Laxa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29668857		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33901012	Associate	★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	37574426	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29668857		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35675510, 37574426	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35675510	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28065471		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	Epileptic encephalopathy	UNIPROT_DG	29668857		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36076300	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37574426	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36748335	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35675510	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28592880		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36748335	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28592880		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28592880	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★☆☆☆☆ Found in Text Mining only