PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing)

Gene

• Entrez ID: 200576
• Gene name: Phosphoinositide kinase, FYVE-type zinc finger containing
• Gene symbol: PIKFYVE
• Synonyms (NCBI Gene): CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29
• Chromosome: 2
• Chromosome location: 2q34
• Summary: Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918336	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918337	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs387907335	AGTA>-	Pathogenic	Terminator codon variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs780579562	C>G	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs869312464	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1553525857	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050096	hsa-miR-26a-5p	CLASH	23622248
MIRT048546	hsa-miR-100-5p	CLASH	23622248
MIRT043808	hsa-miR-328-3p	CLASH	23622248
MIRT042812	hsa-miR-324-3p	CLASH	23622248
MIRT037422	hsa-miR-744-5p	CLASH	23622248
MIRT037422	hsa-miR-744-5p	CLASH	23622248
MIRT086968	hsa-miR-4418	HITS-CLIP	23824327
MIRT086967	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT086964	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT655086	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT655085	hsa-miR-4267	HITS-CLIP	23824327
MIRT655084	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT655083	hsa-miR-1184	HITS-CLIP	23824327
MIRT655082	hsa-miR-7977	HITS-CLIP	23824327
MIRT655081	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT086968	hsa-miR-4418	HITS-CLIP	23824327
MIRT086967	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT086964	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT655086	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT655085	hsa-miR-4267	HITS-CLIP	23824327
MIRT655084	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT655083	hsa-miR-1184	HITS-CLIP	23824327
MIRT655082	hsa-miR-7977	HITS-CLIP	23824327
MIRT655081	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT439972	hsa-miR-376a-3p	HITS-CLIP	24374217
MIRT439972	hsa-miR-376a-3p	HITS-CLIP	24374217
MIRT086968	hsa-miR-4418	HITS-CLIP	23824327
MIRT086967	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT086964	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT655086	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT655085	hsa-miR-4267	HITS-CLIP	23824327
MIRT655084	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT655083	hsa-miR-1184	HITS-CLIP	23824327
MIRT655082	hsa-miR-7977	HITS-CLIP	23824327
MIRT655081	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT086968	hsa-miR-4418	HITS-CLIP	23824327
MIRT086967	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT086964	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT655086	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT655085	hsa-miR-4267	HITS-CLIP	23824327
MIRT655084	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT655083	hsa-miR-1184	HITS-CLIP	23824327
MIRT655082	hsa-miR-7977	HITS-CLIP	23824327
MIRT655081	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT1234915	hsa-miR-105	CLIP-seq
MIRT1234916	hsa-miR-106a	CLIP-seq
MIRT1234917	hsa-miR-106b	CLIP-seq
MIRT1234918	hsa-miR-1224-5p	CLIP-seq
MIRT1234919	hsa-miR-124	CLIP-seq
MIRT1234920	hsa-miR-1245b-5p	CLIP-seq
MIRT1234921	hsa-miR-1252	CLIP-seq
MIRT1234922	hsa-miR-1256	CLIP-seq
MIRT1234923	hsa-miR-1257	CLIP-seq
MIRT1234924	hsa-miR-125a-3p	CLIP-seq
MIRT1234925	hsa-miR-127-5p	CLIP-seq
MIRT1234926	hsa-miR-1279	CLIP-seq
MIRT1234927	hsa-miR-1281	CLIP-seq
MIRT1234928	hsa-miR-1283	CLIP-seq
MIRT1234929	hsa-miR-1297	CLIP-seq
MIRT1234930	hsa-miR-130a	CLIP-seq
MIRT1234931	hsa-miR-130b	CLIP-seq
MIRT1234932	hsa-miR-132	CLIP-seq
MIRT1234933	hsa-miR-141	CLIP-seq
MIRT1234934	hsa-miR-17	CLIP-seq
MIRT1234935	hsa-miR-1915	CLIP-seq
MIRT1234936	hsa-miR-19a	CLIP-seq
MIRT1234937	hsa-miR-19b	CLIP-seq
MIRT1234938	hsa-miR-200a	CLIP-seq
MIRT1234939	hsa-miR-200b	CLIP-seq
MIRT1234940	hsa-miR-200c	CLIP-seq
MIRT1234941	hsa-miR-203	CLIP-seq
MIRT1234942	hsa-miR-205	CLIP-seq
MIRT1234943	hsa-miR-20a	CLIP-seq
MIRT1234944	hsa-miR-20b	CLIP-seq
MIRT1234945	hsa-miR-212	CLIP-seq
MIRT1234946	hsa-miR-214	CLIP-seq
MIRT1234947	hsa-miR-217	CLIP-seq
MIRT1234948	hsa-miR-224	CLIP-seq
MIRT1234949	hsa-miR-23a	CLIP-seq
MIRT1234950	hsa-miR-23b	CLIP-seq
MIRT1234951	hsa-miR-23c	CLIP-seq
MIRT1234952	hsa-miR-25	CLIP-seq
MIRT1234953	hsa-miR-26a	CLIP-seq
MIRT1234954	hsa-miR-26b	CLIP-seq
MIRT1234955	hsa-miR-28-3p	CLIP-seq
MIRT1234956	hsa-miR-296-3p	CLIP-seq
MIRT1234957	hsa-miR-301a	CLIP-seq
MIRT1234958	hsa-miR-301b	CLIP-seq
MIRT1234959	hsa-miR-302f	CLIP-seq
MIRT1234960	hsa-miR-3124-3p	CLIP-seq
MIRT1234961	hsa-miR-3127-3p	CLIP-seq
MIRT1234962	hsa-miR-3130-3p	CLIP-seq
MIRT1234963	hsa-miR-3135	CLIP-seq
MIRT1234964	hsa-miR-3142	CLIP-seq
MIRT1234965	hsa-miR-3152-3p	CLIP-seq
MIRT1234966	hsa-miR-3160-5p	CLIP-seq
MIRT1234967	hsa-miR-3163	CLIP-seq
MIRT1234968	hsa-miR-3175	CLIP-seq
MIRT1234969	hsa-miR-3189-3p	CLIP-seq
MIRT1234970	hsa-miR-32	CLIP-seq
MIRT1234971	hsa-miR-320a	CLIP-seq
MIRT1234972	hsa-miR-320b	CLIP-seq
MIRT1234973	hsa-miR-320c	CLIP-seq
MIRT1234974	hsa-miR-320d	CLIP-seq
MIRT1234975	hsa-miR-338-5p	CLIP-seq
MIRT1234976	hsa-miR-34a	CLIP-seq
MIRT1234977	hsa-miR-34c-5p	CLIP-seq
MIRT1234978	hsa-miR-3545-3p	CLIP-seq
MIRT1234979	hsa-miR-3613-3p	CLIP-seq
MIRT1234980	hsa-miR-3617	CLIP-seq
MIRT1234981	hsa-miR-3619-5p	CLIP-seq
MIRT1234982	hsa-miR-363	CLIP-seq
MIRT1234983	hsa-miR-365	CLIP-seq
MIRT1234984	hsa-miR-3662	CLIP-seq
MIRT1234985	hsa-miR-3663-5p	CLIP-seq
MIRT1234986	hsa-miR-3666	CLIP-seq
MIRT1234987	hsa-miR-367	CLIP-seq
MIRT1234988	hsa-miR-3676	CLIP-seq
MIRT1234989	hsa-miR-3677-5p	CLIP-seq
MIRT1234990	hsa-miR-3679-3p	CLIP-seq
MIRT1234991	hsa-miR-3682-5p	CLIP-seq
MIRT1234992	hsa-miR-369-3p	CLIP-seq
MIRT1234993	hsa-miR-374a	CLIP-seq
MIRT1234994	hsa-miR-374b	CLIP-seq
MIRT1234995	hsa-miR-374c	CLIP-seq
MIRT1234996	hsa-miR-3915	CLIP-seq
MIRT1234997	hsa-miR-3928	CLIP-seq
MIRT1234998	hsa-miR-3934	CLIP-seq
MIRT1234999	hsa-miR-3935	CLIP-seq
MIRT1235000	hsa-miR-3941	CLIP-seq
MIRT1235001	hsa-miR-3942-3p	CLIP-seq
MIRT1235002	hsa-miR-3975	CLIP-seq
MIRT1235003	hsa-miR-421	CLIP-seq
MIRT1235004	hsa-miR-4261	CLIP-seq
MIRT1235005	hsa-miR-4263	CLIP-seq
MIRT1235006	hsa-miR-4272	CLIP-seq
MIRT1235007	hsa-miR-4278	CLIP-seq
MIRT1235008	hsa-miR-4282	CLIP-seq
MIRT1235009	hsa-miR-429	CLIP-seq
MIRT1235010	hsa-miR-4291	CLIP-seq
MIRT1235011	hsa-miR-4295	CLIP-seq
MIRT1235012	hsa-miR-4325	CLIP-seq
MIRT1235013	hsa-miR-4326	CLIP-seq
MIRT1235014	hsa-miR-4328	CLIP-seq
MIRT1235015	hsa-miR-4429	CLIP-seq
MIRT1235016	hsa-miR-4446-5p	CLIP-seq
MIRT1235017	hsa-miR-4465	CLIP-seq
MIRT1235018	hsa-miR-4480	CLIP-seq
MIRT1235019	hsa-miR-449a	CLIP-seq
MIRT1235020	hsa-miR-449b	CLIP-seq
MIRT1235021	hsa-miR-4502	CLIP-seq
MIRT1235022	hsa-miR-4506	CLIP-seq
MIRT1235023	hsa-miR-454	CLIP-seq
MIRT1235024	hsa-miR-4635	CLIP-seq
MIRT1235025	hsa-miR-4659a-3p	CLIP-seq
MIRT1235026	hsa-miR-4659b-3p	CLIP-seq
MIRT1235027	hsa-miR-466	CLIP-seq
MIRT1235028	hsa-miR-4660	CLIP-seq
MIRT1235029	hsa-miR-4662a-3p	CLIP-seq
MIRT1235030	hsa-miR-4672	CLIP-seq
MIRT1235031	hsa-miR-4677-3p	CLIP-seq
MIRT1235032	hsa-miR-4679	CLIP-seq
MIRT1235033	hsa-miR-4680-5p	CLIP-seq
MIRT1235034	hsa-miR-4689	CLIP-seq
MIRT1235035	hsa-miR-4691-3p	CLIP-seq
MIRT1235036	hsa-miR-4699-3p	CLIP-seq
MIRT1235037	hsa-miR-4714-3p	CLIP-seq
MIRT1235038	hsa-miR-4716-3p	CLIP-seq
MIRT1235039	hsa-miR-4719	CLIP-seq
MIRT1235040	hsa-miR-4723-5p	CLIP-seq
MIRT1235041	hsa-miR-4726-3p	CLIP-seq
MIRT1235042	hsa-miR-4729	CLIP-seq
MIRT1235043	hsa-miR-4755-3p	CLIP-seq
MIRT1235044	hsa-miR-4755-5p	CLIP-seq
MIRT1235045	hsa-miR-4760-3p	CLIP-seq
MIRT1235046	hsa-miR-4762-3p	CLIP-seq
MIRT1235047	hsa-miR-4763-5p	CLIP-seq
MIRT1235048	hsa-miR-4777-3p	CLIP-seq
MIRT1235049	hsa-miR-4788	CLIP-seq
MIRT1235050	hsa-miR-4790-3p	CLIP-seq
MIRT1235051	hsa-miR-490-5p	CLIP-seq
MIRT1235052	hsa-miR-502-5p	CLIP-seq
MIRT1235053	hsa-miR-506	CLIP-seq
MIRT1235054	hsa-miR-513a-3p	CLIP-seq
MIRT1235055	hsa-miR-519a	CLIP-seq
MIRT1235056	hsa-miR-519b-3p	CLIP-seq
MIRT1235057	hsa-miR-519c-3p	CLIP-seq
MIRT1235058	hsa-miR-519d	CLIP-seq
MIRT1235059	hsa-miR-520g	CLIP-seq
MIRT1235060	hsa-miR-520h	CLIP-seq
MIRT1235061	hsa-miR-545	CLIP-seq
MIRT1235062	hsa-miR-548aa	CLIP-seq
MIRT1235063	hsa-miR-548ac	CLIP-seq
MIRT1235064	hsa-miR-548an	CLIP-seq
MIRT1235065	hsa-miR-548d-3p	CLIP-seq
MIRT1235066	hsa-miR-548z	CLIP-seq
MIRT1235067	hsa-miR-552	CLIP-seq
MIRT1235068	hsa-miR-555	CLIP-seq
MIRT1235069	hsa-miR-556-3p	CLIP-seq
MIRT1235070	hsa-miR-562	CLIP-seq
MIRT1235071	hsa-miR-576-5p	CLIP-seq
MIRT1235072	hsa-miR-577	CLIP-seq
MIRT1235073	hsa-miR-590-3p	CLIP-seq
MIRT1235074	hsa-miR-606	CLIP-seq
MIRT1235075	hsa-miR-616	CLIP-seq
MIRT1235076	hsa-miR-629	CLIP-seq
MIRT1235077	hsa-miR-641	CLIP-seq
MIRT1235078	hsa-miR-645	CLIP-seq
MIRT1235079	hsa-miR-646	CLIP-seq
MIRT1235080	hsa-miR-655	CLIP-seq
MIRT1235081	hsa-miR-656	CLIP-seq
MIRT1235082	hsa-miR-662	CLIP-seq
MIRT1235083	hsa-miR-664	CLIP-seq
MIRT1235084	hsa-miR-761	CLIP-seq
MIRT1235085	hsa-miR-764	CLIP-seq
MIRT1235086	hsa-miR-802	CLIP-seq
MIRT1235087	hsa-miR-885-5p	CLIP-seq
MIRT1235088	hsa-miR-922	CLIP-seq
MIRT1235089	hsa-miR-92a	CLIP-seq
MIRT1235090	hsa-miR-92b	CLIP-seq
MIRT1235091	hsa-miR-93	CLIP-seq
MIRT1235092	hsa-miR-944	CLIP-seq
MIRT1235093	hsa-miR-3185	CLIP-seq
MIRT1235094	hsa-miR-3646	CLIP-seq
MIRT1234984	hsa-miR-3662	CLIP-seq
MIRT1235095	hsa-miR-4311	CLIP-seq
MIRT2069183	hsa-miR-1	CLIP-seq
MIRT2069184	hsa-miR-101	CLIP-seq
MIRT2069185	hsa-miR-1244	CLIP-seq
MIRT1234922	hsa-miR-1256	CLIP-seq
MIRT2069186	hsa-miR-1267	CLIP-seq
MIRT1234927	hsa-miR-1281	CLIP-seq
MIRT2069187	hsa-miR-129-3p	CLIP-seq
MIRT1234932	hsa-miR-132	CLIP-seq
MIRT2069188	hsa-miR-1324	CLIP-seq
MIRT2069189	hsa-miR-133a	CLIP-seq
MIRT2069190	hsa-miR-133b	CLIP-seq
MIRT1234933	hsa-miR-141	CLIP-seq
MIRT2069191	hsa-miR-144	CLIP-seq
MIRT1234935	hsa-miR-1915	CLIP-seq
MIRT2069192	hsa-miR-1976	CLIP-seq
MIRT1234938	hsa-miR-200a	CLIP-seq
MIRT1234939	hsa-miR-200b	CLIP-seq
MIRT1234940	hsa-miR-200c	CLIP-seq
MIRT1234942	hsa-miR-205	CLIP-seq
MIRT2069193	hsa-miR-206	CLIP-seq
MIRT2069194	hsa-miR-21	CLIP-seq
MIRT1234945	hsa-miR-212	CLIP-seq
MIRT1234946	hsa-miR-214	CLIP-seq
MIRT1234948	hsa-miR-224	CLIP-seq
MIRT2069195	hsa-miR-3121-5p	CLIP-seq
MIRT1234961	hsa-miR-3127-3p	CLIP-seq
MIRT2069196	hsa-miR-3157-5p	CLIP-seq
MIRT2069197	hsa-miR-3170	CLIP-seq
MIRT1234971	hsa-miR-320a	CLIP-seq
MIRT1234972	hsa-miR-320b	CLIP-seq
MIRT1234973	hsa-miR-320c	CLIP-seq
MIRT1234974	hsa-miR-320d	CLIP-seq
MIRT1234975	hsa-miR-338-5p	CLIP-seq
MIRT1234979	hsa-miR-3613-3p	CLIP-seq
MIRT1234981	hsa-miR-3619-5p	CLIP-seq
MIRT1234983	hsa-miR-365	CLIP-seq
MIRT2069198	hsa-miR-3652	CLIP-seq
MIRT1234984	hsa-miR-3662	CLIP-seq
MIRT2069199	hsa-miR-3673	CLIP-seq
MIRT1234988	hsa-miR-3676	CLIP-seq
MIRT1234989	hsa-miR-3677-5p	CLIP-seq
MIRT1234995	hsa-miR-374c	CLIP-seq
MIRT2069200	hsa-miR-375	CLIP-seq
MIRT2069201	hsa-miR-3978	CLIP-seq
MIRT2069202	hsa-miR-4259	CLIP-seq
MIRT1235004	hsa-miR-4261	CLIP-seq
MIRT2069203	hsa-miR-4279	CLIP-seq
MIRT1235008	hsa-miR-4282	CLIP-seq
MIRT1235009	hsa-miR-429	CLIP-seq
MIRT1235010	hsa-miR-4291	CLIP-seq
MIRT1235013	hsa-miR-4326	CLIP-seq
MIRT2069204	hsa-miR-4421	CLIP-seq
MIRT2069205	hsa-miR-4423-5p	CLIP-seq
MIRT1235015	hsa-miR-4429	CLIP-seq
MIRT2069206	hsa-miR-4430	CLIP-seq
MIRT1235016	hsa-miR-4446-5p	CLIP-seq
MIRT2069207	hsa-miR-4477a	CLIP-seq
MIRT1235022	hsa-miR-4506	CLIP-seq
MIRT2069208	hsa-miR-4653-3p	CLIP-seq
MIRT1235025	hsa-miR-4659a-3p	CLIP-seq
MIRT1235026	hsa-miR-4659b-3p	CLIP-seq
MIRT2069209	hsa-miR-4666-3p	CLIP-seq
MIRT2069210	hsa-miR-4668-3p	CLIP-seq
MIRT2069211	hsa-miR-4687-5p	CLIP-seq
MIRT1235035	hsa-miR-4691-3p	CLIP-seq
MIRT2069212	hsa-miR-4698	CLIP-seq
MIRT1235036	hsa-miR-4699-3p	CLIP-seq
MIRT2069213	hsa-miR-4700-3p	CLIP-seq
MIRT2069214	hsa-miR-4703-3p	CLIP-seq
MIRT1235037	hsa-miR-4714-3p	CLIP-seq
MIRT2069215	hsa-miR-4715-3p	CLIP-seq
MIRT2069216	hsa-miR-4715-5p	CLIP-seq
MIRT1235039	hsa-miR-4719	CLIP-seq
MIRT2069217	hsa-miR-4722-3p	CLIP-seq
MIRT1235041	hsa-miR-4726-3p	CLIP-seq
MIRT1235044	hsa-miR-4755-5p	CLIP-seq
MIRT1235045	hsa-miR-4760-3p	CLIP-seq
MIRT1235051	hsa-miR-490-5p	CLIP-seq
MIRT2069218	hsa-miR-5095	CLIP-seq
MIRT1235054	hsa-miR-513a-3p	CLIP-seq
MIRT1235067	hsa-miR-552	CLIP-seq
MIRT1235068	hsa-miR-555	CLIP-seq
MIRT2069219	hsa-miR-582-5p	CLIP-seq
MIRT2069220	hsa-miR-590-5p	CLIP-seq
MIRT2069221	hsa-miR-607	CLIP-seq
MIRT2069222	hsa-miR-613	CLIP-seq
MIRT1235075	hsa-miR-616	CLIP-seq
MIRT1235079	hsa-miR-646	CLIP-seq
MIRT1235080	hsa-miR-655	CLIP-seq
MIRT1235082	hsa-miR-662	CLIP-seq
MIRT1235084	hsa-miR-761	CLIP-seq
MIRT1235087	hsa-miR-885-5p	CLIP-seq
MIRT1235088	hsa-miR-922	CLIP-seq
MIRT1234918	hsa-miR-1224-5p	CLIP-seq
MIRT1234927	hsa-miR-1281	CLIP-seq
MIRT1234929	hsa-miR-1297	CLIP-seq
MIRT1234933	hsa-miR-141	CLIP-seq
MIRT1234935	hsa-miR-1915	CLIP-seq
MIRT2069192	hsa-miR-1976	CLIP-seq
MIRT1234938	hsa-miR-200a	CLIP-seq
MIRT1234939	hsa-miR-200b	CLIP-seq
MIRT1234940	hsa-miR-200c	CLIP-seq
MIRT1234947	hsa-miR-217	CLIP-seq
MIRT1234948	hsa-miR-224	CLIP-seq
MIRT1234953	hsa-miR-26a	CLIP-seq
MIRT1234954	hsa-miR-26b	CLIP-seq
MIRT1234975	hsa-miR-338-5p	CLIP-seq
MIRT1234996	hsa-miR-3915	CLIP-seq
MIRT1234997	hsa-miR-3928	CLIP-seq
MIRT2069203	hsa-miR-4279	CLIP-seq
MIRT1235009	hsa-miR-429	CLIP-seq
MIRT1235017	hsa-miR-4465	CLIP-seq
MIRT1235034	hsa-miR-4689	CLIP-seq
MIRT2069217	hsa-miR-4722-3p	CLIP-seq
MIRT1235041	hsa-miR-4726-3p	CLIP-seq
MIRT2296309	hsa-miR-570	CLIP-seq
MIRT1235081	hsa-miR-656	CLIP-seq
MIRT1235036	hsa-miR-4699-3p	CLIP-seq
MIRT1235042	hsa-miR-4729	CLIP-seq
MIRT2439491	hsa-miR-219-5p	CLIP-seq
MIRT2439492	hsa-miR-4445	CLIP-seq
MIRT2439493	hsa-miR-4642	CLIP-seq
MIRT2069214	hsa-miR-4703-3p	CLIP-seq
MIRT2439494	hsa-miR-4782-3p	CLIP-seq
MIRT2439495	hsa-miR-548a-3p	CLIP-seq
MIRT2439496	hsa-miR-548e	CLIP-seq
MIRT2439497	hsa-miR-548f	CLIP-seq
MIRT2439498	hsa-miR-642b	CLIP-seq
MIRT2439495	hsa-miR-548a-3p	CLIP-seq
MIRT2439496	hsa-miR-548e	CLIP-seq
MIRT2439497	hsa-miR-548f	CLIP-seq
MIRT2456509	hsa-miR-3150a-3p	CLIP-seq
MIRT1234968	hsa-miR-3175	CLIP-seq
MIRT2456510	hsa-miR-3675-5p	CLIP-seq
MIRT2456511	hsa-miR-3689d	CLIP-seq
MIRT2456512	hsa-miR-4648	CLIP-seq
MIRT2456513	hsa-miR-4654	CLIP-seq
MIRT2456514	hsa-miR-4769-5p	CLIP-seq
MIRT2456515	hsa-miR-539	CLIP-seq
MIRT2456516	hsa-miR-765	CLIP-seq
MIRT2456517	hsa-miR-939	CLIP-seq
MIRT1234921	hsa-miR-1252	CLIP-seq
MIRT2594007	hsa-miR-128	CLIP-seq
MIRT1234927	hsa-miR-1281	CLIP-seq
MIRT2069189	hsa-miR-133a	CLIP-seq
MIRT2069190	hsa-miR-133b	CLIP-seq
MIRT1234935	hsa-miR-1915	CLIP-seq
MIRT2069194	hsa-miR-21	CLIP-seq
MIRT2439491	hsa-miR-219-5p	CLIP-seq
MIRT2594008	hsa-miR-27a	CLIP-seq
MIRT2594009	hsa-miR-27b	CLIP-seq
MIRT2594010	hsa-miR-297	CLIP-seq
MIRT2069195	hsa-miR-3121-5p	CLIP-seq
MIRT2594011	hsa-miR-3149	CLIP-seq
MIRT1235093	hsa-miR-3185	CLIP-seq
MIRT2594012	hsa-miR-3613-5p	CLIP-seq
MIRT2069200	hsa-miR-375	CLIP-seq
MIRT2594013	hsa-miR-4275	CLIP-seq
MIRT1235013	hsa-miR-4326	CLIP-seq
MIRT2069204	hsa-miR-4421	CLIP-seq
MIRT2439492	hsa-miR-4445	CLIP-seq
MIRT2594014	hsa-miR-4476	CLIP-seq
MIRT2069207	hsa-miR-4477a	CLIP-seq
MIRT2594015	hsa-miR-4477b	CLIP-seq
MIRT2594016	hsa-miR-4533	CLIP-seq
MIRT2594017	hsa-miR-455-3p	CLIP-seq
MIRT2594018	hsa-miR-455-5p	CLIP-seq
MIRT2439493	hsa-miR-4642	CLIP-seq
MIRT1235025	hsa-miR-4659a-3p	CLIP-seq
MIRT1235026	hsa-miR-4659b-3p	CLIP-seq
MIRT2069212	hsa-miR-4698	CLIP-seq
MIRT2069214	hsa-miR-4703-3p	CLIP-seq
MIRT1235041	hsa-miR-4726-3p	CLIP-seq
MIRT2594019	hsa-miR-4753-3p	CLIP-seq
MIRT2594020	hsa-miR-4768-5p	CLIP-seq
MIRT2439494	hsa-miR-4782-3p	CLIP-seq
MIRT2594021	hsa-miR-513a-5p	CLIP-seq
MIRT2439495	hsa-miR-548a-3p	CLIP-seq
MIRT2439496	hsa-miR-548e	CLIP-seq
MIRT2439497	hsa-miR-548f	CLIP-seq
MIRT2594022	hsa-miR-567	CLIP-seq
MIRT2069220	hsa-miR-590-5p	CLIP-seq
MIRT2069221	hsa-miR-607	CLIP-seq
MIRT2439498	hsa-miR-642b	CLIP-seq
MIRT1235092	hsa-miR-944	CLIP-seq
MIRT1234921	hsa-miR-1252	CLIP-seq
MIRT1234927	hsa-miR-1281	CLIP-seq
MIRT2069189	hsa-miR-133a	CLIP-seq
MIRT2069190	hsa-miR-133b	CLIP-seq
MIRT1234935	hsa-miR-1915	CLIP-seq
MIRT2069192	hsa-miR-1976	CLIP-seq
MIRT2069194	hsa-miR-21	CLIP-seq
MIRT2439491	hsa-miR-219-5p	CLIP-seq
MIRT2594010	hsa-miR-297	CLIP-seq
MIRT2594011	hsa-miR-3149	CLIP-seq
MIRT2069196	hsa-miR-3157-5p	CLIP-seq
MIRT1235093	hsa-miR-3185	CLIP-seq
MIRT2594012	hsa-miR-3613-5p	CLIP-seq
MIRT2594013	hsa-miR-4275	CLIP-seq
MIRT2069203	hsa-miR-4279	CLIP-seq
MIRT2687920	hsa-miR-4422	CLIP-seq
MIRT2439492	hsa-miR-4445	CLIP-seq
MIRT2594014	hsa-miR-4476	CLIP-seq
MIRT2069207	hsa-miR-4477a	CLIP-seq
MIRT2594015	hsa-miR-4477b	CLIP-seq
MIRT2687921	hsa-miR-4509	CLIP-seq
MIRT2594016	hsa-miR-4533	CLIP-seq
MIRT2439493	hsa-miR-4642	CLIP-seq
MIRT1235025	hsa-miR-4659a-3p	CLIP-seq
MIRT1235026	hsa-miR-4659b-3p	CLIP-seq
MIRT2687922	hsa-miR-4684-5p	CLIP-seq
MIRT1235035	hsa-miR-4691-3p	CLIP-seq
MIRT2069214	hsa-miR-4703-3p	CLIP-seq
MIRT2069217	hsa-miR-4722-3p	CLIP-seq
MIRT1235041	hsa-miR-4726-3p	CLIP-seq
MIRT2687923	hsa-miR-4744	CLIP-seq
MIRT2594019	hsa-miR-4753-3p	CLIP-seq
MIRT2594020	hsa-miR-4768-5p	CLIP-seq
MIRT2439494	hsa-miR-4782-3p	CLIP-seq
MIRT2439495	hsa-miR-548a-3p	CLIP-seq
MIRT2439496	hsa-miR-548e	CLIP-seq
MIRT2439497	hsa-miR-548f	CLIP-seq
MIRT2594022	hsa-miR-567	CLIP-seq
MIRT2069220	hsa-miR-590-5p	CLIP-seq
MIRT2439498	hsa-miR-642b	CLIP-seq
MIRT1235092	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0000285	Function	1-phosphatidylinositol-3-phosphate 5-kinase activity	IBA
GO:0000285	Function	1-phosphatidylinositol-3-phosphate 5-kinase activity	IDA	22621786
GO:0000285	Function	1-phosphatidylinositol-3-phosphate 5-kinase activity	IEA
GO:0000285	Function	1-phosphatidylinositol-3-phosphate 5-kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	15046600, 17556371, 17909029, 19037259, 25416956, 29892012, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006612	Process	Protein targeting to membrane	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006898	Process	Receptor-mediated endocytosis	IMP	14551253
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010008	Component	Endosome membrane	IDA	17556371
GO:0010008	Component	Endosome membrane	IEA
GO:0012506	Component	Vesicle membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS	15046600
GO:0016740	Function	Transferase activity	IEA
GO:0019065	Process	Receptor-mediated endocytosis of virus by host cell	IDA	32221306
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA	30612035
GO:0030593	Process	Neutrophil chemotaxis	IBA
GO:0030593	Process	Neutrophil chemotaxis	IDA	28779020
GO:0030593	Process	Neutrophil chemotaxis	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IDA	30612035
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IDA	16448788, 16954148, 30612035
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	TAS
GO:0032438	Process	Melanosome organization	IBA
GO:0032438	Process	Melanosome organization	IDA	29584722
GO:0032438	Process	Melanosome organization	IEA
GO:0034504	Process	Protein localization to nucleus	IMP	17909029
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0036289	Process	Peptidyl-serine autophosphorylation	ISS
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	14551253, 16954148
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS
GO:0045121	Component	Membrane raft	IDA	15046600
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0052742	Function	Phosphatidylinositol kinase activity	IEA
GO:0052810	Function	1-phosphatidylinositol-5-kinase activity	IBA
GO:0052810	Function	1-phosphatidylinositol-5-kinase activity	IDA	22621786
GO:0052810	Function	1-phosphatidylinositol-5-kinase activity	IEA
GO:0052810	Function	1-phosphatidylinositol-5-kinase activity	ISS
GO:0090382	Process	Phagosome maturation	IDA	27623384
GO:0090385	Process	Phagosome-lysosome fusion	IBA
GO:0090385	Process	Phagosome-lysosome fusion	IDA	28779020
GO:0090385	Process	Phagosome-lysosome fusion	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903100	Process	1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process	ISS
GO:1903426	Process	Regulation of reactive oxygen species biosynthetic process	IBA
GO:1903426	Process	Regulation of reactive oxygen species biosynthetic process	IDA	28779020
GO:1903426	Process	Regulation of reactive oxygen species biosynthetic process	IEA
GO:1904562	Process	Phosphatidylinositol 5-phosphate metabolic process	IC	25578879
GO:1904562	Process	Phosphatidylinositol 5-phosphate metabolic process	ISS
GO:2000785	Process	Regulation of autophagosome assembly	IMP	25578879

Other IDs

• MIM: 609414
• HGNC: 23785
• e!Ensembl: ENSG00000115020

Protein

• UniProt ID: Q9Y2I7
• Protein name: 1-phosphatidylinositol 3-phosphate 5-kinase (Phosphatidylinositol 3-phosphate 5-kinase) (EC 2.7.1.150) (FYVE finger-containing phosphoinositide kinase) (PIKfyve) (Phosphatidylinositol 3-phosphate 5-kinase type III) (PIPkin-III) (Type III PIP kinase) (Seri
• Protein function: Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, stress- or hormone-induced signaling and cell cy
• PDB: 7K2V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01363	FYVE	153 → 219	FYVE zinc finger	Domain
  PF00610	DEP	368 → 438	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
  PF00118	Cpn60_TCP1	591 → 863	TCP-1/cpn60 chaperonin family	Family
  PF01504	PIP5K	1852 → 2030	Phosphatidylinositol-4-phosphate 5-Kinase	Family
  PF01504	PIP5K	2023 → 2083	Phosphatidylinositol-4-phosphate 5-Kinase	Family

• Sequence:

  MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERA
  EGGQGEQQPLSGSWTSPQLPSRTQSVRSPTPYKKQLNEELQRRSSALDTRRKAEPTFGGH
  DPRTAVQLRSLSTVLKRLKEIMEGKSQDSDLKQYWMPDSQCKECYDCSEKFTTFRRRHHC
  RLCGQIFCSRCCNQEIPGKFMGYTGDLRACTYCRKIALSYAHSTDSNSIGEDLNALSDSA
  CSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSP
  ARNRSASITNLSLDRSGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWK
  KICHHSSGMEFQDHRYWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLD
  CVSHHDQLFRDEYALYRPLQSTEFSETPSPDSDSVNSVEGHSEPSWFKDIKFDDSDTEQI
  AEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVNFHIKKPSKYPHVPPH
  PADQKEYLISDTGGQQLSISDAFIKESLFNRRVEEKSKELPFTPLGWHHNNLELLREENG
  EKQAMERLLSANHNHMMALLQQLLHSDSLSSSWRDIIVSLVCQVVQTVRPDVKNQDDDMD
  IRQFVHIKKIPGGKKFDSVVVNGFVCTKNIAHKKMSSCIKNPKILLLKCSIEYLYREETK
  FTCIDPIVLQEREFLKNYVQRIVDVRPTLVLVEKTVSRIAQDMLLEHGITLVINVKSQVL
  ERISRMTQGDLVMSMDQLLTKPHLGTCHKFYMQIFQLPNEQTKTLMFFEGCPQHLGCTIK
  LRGGSDYELARVKEILIFMICVAYHSQLEISFLMDEFAMPPTLMQNPSFHSLIEGRGHEG
  AVQEQYGGGSIPWDPDIPPESLPCDDSSLLELRIVFEKGEQENKNLPQAVASVKHQEHST
  TACPAGLPCAFFAPVPESLLPLPVDDQQDALGSEQPETLQQTVVLQDPKSQIRAFRDPLQ
  DDTGLYVTEEVTSSEDKRKTYSLAFKQELKDVILCISPVITFREPFLLTEKGMRCSTRDY
  FAEQVYWSPLLNKEFKEMENRRKKQLLRDLSGLQGMNGSIQAKSIQVLPSHELVSTRIAE
  HLGDSQSLGRMLADYRARGGRIQPKNSDPFAHSKDASSTSSGQSGSKNEGDEERGLILSD
  AVWSTKVDCLNPINHQRLCVLFSSSSAQSSNAPSACVSPWIVTMEFYGKNDLTLGIFLER
  YCFRPSYQCPSMFCDTPMVHHIRRFVHGQGCVQIILKELDSPVPGYQHTILTYSWCRICK
  QVTPVVALSNESWSMSFAKYLELRFYGHQYTRRANAEPCGHSIHHDYHQYFSYNQMVASF
  SYSPIRLLEVCVPLPKIFIKRQAPLKVSLLQDLKDFFQKVSQVYVAIDERLASLKTDTFS
  KTREEKMEDIFAQKEMEEGEFKNWIEKMQARLMSSSVDTPQQLQSVFESLIAKKQSLCEV
  LQAWNNRLQDLFQQEKGRKRPSVPPSPGRLRQGEESKISAMDASPRNISPGLQNGEKEDR
  FLTTLSSQSSTSSTHLQLPTPPEVMSEQSVGGPPELDTASSSEDVFDGHLLGSTDSQVKE
  KSTMKAIFANLLPGNSYNPIPFPFDPDKHYLMYEHERVPIAVCEKEPSSIIAFALSCKEY
  RNALEELSKATQWNSAEEGLPTNSTSDSRPKSSSPIRLPEMSGGQTNRTTETEPQPTKKA
  SGMLSFFRGTAGKSPDLSSQKRETLRGADSAYYQVGQTGKEGTENQGVEPQDEVDGGDTQ
  KKQLINPHVELQFSDANAKFYCRLYYAGEFHKMREVILDSSEEDFIRSLSHSSPWQARGG
  KSGAAFYATEDDRFILKQMPRLEVQSFLDFAPHYFNYITNAVQQKRPTALAKILGVYRIG
  YKNSQNNTEKKLDLLVMENLFYGRKMAQVFDLKGSLRNRNVKTDTGKESCDVVLLDENLL
  KMVRDNPLYIRSHSKAVLRTSIHSDSHFLSSHLIIDYSLLVGRDDTSNELVVGIIDYIRT
  FTWDKKLEMVVKSTGILGGQGKMPTVVSPELYRTRFCEAMDKYFLMVPDHWTGLGLNC

• Sequence length: 2098

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phagosome
Regulation of actin cytoskeleton

Reactome:

Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane

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
Fleck corneal dystrophy	Likely pathogenic; Pathogenic	rs1195336213, rs992128517, rs2125682979, rs2125298689, rs121918336, rs121918337, rs869312464, rs780579562, rs387907335	RCV002308500 RCV001731226 RCV001731227 RCV001782632 RCV000001766 RCV000001767 RCV000209630 RCV000490347 RCV000034837	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PIKFYVE-related disorder	Likely pathogenic; Pathogenic	rs1450294572, rs1291587960, rs1011857582	RCV003399537 RCV003391331 RCV003420996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, FLECK	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	21139680, 22003108		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	22832039		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	11457876, 16527897		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	30138473		★☆☆☆☆ Found in Text Mining only
Asbestosis	Asbestosis	CTD_human_DG	22832039		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29138487	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013, 36644582	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	30286468	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28104689, 28350209		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	25877612		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28623038		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24070605		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34997107, 35037412	Associate	★☆☆☆☆ Found in Text Mining only
Bright Disease	Bright Disease	CTD_human_DG	14675043		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17909029, 28824723	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37533202	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	17909029	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28396567		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37511188	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	28395878		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	37188751	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28939943, 28992139		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22975639		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34162701	Stimulate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	29522842		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complement Factor D Deficiency	Complement Component Deficiency	ORPHANET_DG	16527897		★☆☆☆☆ Found in Text Mining only
Complement Factor D Deficiency	Complement Component Deficiency	UNIPROT_DG	16527897		★☆☆☆☆ Found in Text Mining only
Complement Factor D Deficiency	Complement Component Deficiency	GENOMICS_ENGLAND_DG	29522842		★☆☆☆☆ Found in Text Mining only
Complement Factor D Deficiency	Complement Component Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Complement Factor D Deficiency	Complement Component Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28195242		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy epithelial basement membrane	Corneal dystrophy	Pubtator	19710953	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	15902656, 22065932, 23288988, 26396486	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27467730		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37188768	Associate	★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	26293489	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	23064081	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31132923		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	27676325		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	26302821	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35216336, 39209774	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19708766		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29526625		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	38456992	Associate	★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	15902656, 18429927, 22065932, 23288988, 26396486		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fleck corneal dystrophy	Fleck Corneal Dystrophy	CLINVAR_DG	15902656		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fleck corneal dystrophy	Fleck Corneal Dystrophy	UNIPROT_DG	15902656		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fleck corneal dystrophy	Fleck Corneal Dystrophy	ORPHANET_DG	22065932, 26396486		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fleck corneal dystrophy	Fleck Corneal Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fleck corneal dystrophy	Fleck Corneal Dystrophy	GENOMICS_ENGLAND_DG	23288988, 26396486		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fleck corneal dystrophy	Fleck Corneal Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Geographic Atrophy	Geographic Atrophy	BEFREE	24622760, 30686077		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	CTD_human_DG	14675043		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	37555734	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28651038	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28195242		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	39216506	Associate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	30709920		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25889814	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28651038		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	11457876, 16527897		★☆☆☆☆ Found in Text Mining only
Interrupted aortic arch	Interrupted aortic arch	BEFREE	31197221		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30894565, 31691518		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	25305519		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27473565, 37359050, 39506790, 39867885	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy Partial Acquired	Lipodystrophy	Pubtator	34205507	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39290707	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31861421	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24070605		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28438631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25877612		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17234158, 18501703, 30098992, 31628917		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	30383490		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28075222, 35216336	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	23064081	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	39290707	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31582538		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25877612, 28438631		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	Pubtator	37188751	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26216398	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	2734615, 31530015		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31652917, 37006170	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35216336, 39209774	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32095874	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31692073		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30344727		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	28630122		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	30148749		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35551681	Associate	★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	BEFREE	30383490		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25877612		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34738088	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28651038	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	22832039		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29783158		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	30148749		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28561452		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	28651038	Stimulate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	28651038	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	31430594		★☆☆☆☆ Found in Text Mining only
Speckled corneal dystrophy	Speckled corneal dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18254958	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25064094		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21931799, 39524442	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	30272326	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34053447	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	37188751	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23288988	Associate	★☆☆☆☆ Found in Text Mining only