Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	25953
Gene name	PNKD metallo-beta-lactamase domain containing
Gene symbol	PNKD
Synonyms (NCBI Gene)	BRP17DYT8FKSG19FPD1KIPP1184MR-1MR-1SMR1PDCPKND1PNKD1R1TAHCCP2
Chromosome	2
Chromosome location	2q35
Summary	This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provi

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047847	hsa-miR-30c-5p	CLASH	23622248
MIRT722502	hsa-miR-181a-5p	HITS-CLIP	19536157
MIRT722501	hsa-miR-181b-5p	HITS-CLIP	19536157
MIRT722500	hsa-miR-181c-5p	HITS-CLIP	19536157
MIRT722499	hsa-miR-181d-5p	HITS-CLIP	19536157
MIRT722498	hsa-miR-4262	HITS-CLIP	19536157
MIRT722497	hsa-miR-128-3p	HITS-CLIP	19536157
MIRT722496	hsa-miR-216a-3p	HITS-CLIP	19536157
MIRT722495	hsa-miR-3681-3p	HITS-CLIP	19536157
MIRT722494	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT722493	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT722492	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT722491	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT722490	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT722489	hsa-miR-24-1-5p	HITS-CLIP	19536157
MIRT722488	hsa-miR-24-2-5p	HITS-CLIP	19536157
MIRT400022	hsa-miR-513a-5p	HITS-CLIP	19536157
MIRT400020	hsa-miR-27a-3p	HITS-CLIP	19536157
MIRT400021	hsa-miR-27b-3p	HITS-CLIP	19536157
MIRT722487	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT722486	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT722485	hsa-miR-4774-3p	HITS-CLIP	19536157
MIRT446036	hsa-miR-6887-3p	PAR-CLIP	22100165
MIRT446035	hsa-miR-6795-3p	PAR-CLIP	22100165
MIRT446034	hsa-miR-2276-5p	PAR-CLIP	22100165
MIRT446033	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT446032	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT446031	hsa-miR-29b-1-5p	PAR-CLIP	22100165
MIRT446030	hsa-miR-6759-3p	PAR-CLIP	22100165
MIRT446029	hsa-miR-380-5p	PAR-CLIP	22100165
MIRT446028	hsa-miR-563	PAR-CLIP	22100165
MIRT446027	hsa-miR-6826-3p	PAR-CLIP	22100165
MIRT446026	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446025	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT446024	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT446023	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT722502	hsa-miR-181a-5p	HITS-CLIP	19536157
MIRT722501	hsa-miR-181b-5p	HITS-CLIP	19536157
MIRT722500	hsa-miR-181c-5p	HITS-CLIP	19536157
MIRT722499	hsa-miR-181d-5p	HITS-CLIP	19536157
MIRT722498	hsa-miR-4262	HITS-CLIP	19536157
MIRT722497	hsa-miR-128-3p	HITS-CLIP	19536157
MIRT722496	hsa-miR-216a-3p	HITS-CLIP	19536157
MIRT722495	hsa-miR-3681-3p	HITS-CLIP	19536157
MIRT722494	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT722493	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT722492	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT722491	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT722490	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT722489	hsa-miR-24-1-5p	HITS-CLIP	19536157
MIRT722488	hsa-miR-24-2-5p	HITS-CLIP	19536157
MIRT400022	hsa-miR-513a-5p	HITS-CLIP	19536157
MIRT400020	hsa-miR-27a-3p	HITS-CLIP	19536157
MIRT400021	hsa-miR-27b-3p	HITS-CLIP	19536157
MIRT722487	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT722486	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT722485	hsa-miR-4774-3p	HITS-CLIP	19536157
MIRT446036	hsa-miR-6887-3p	PAR-CLIP	22100165
MIRT446035	hsa-miR-6795-3p	PAR-CLIP	22100165
MIRT446034	hsa-miR-2276-5p	PAR-CLIP	22100165
MIRT446033	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT446032	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT446031	hsa-miR-29b-1-5p	PAR-CLIP	22100165
MIRT446030	hsa-miR-6759-3p	PAR-CLIP	22100165
MIRT446029	hsa-miR-380-5p	PAR-CLIP	22100165
MIRT446028	hsa-miR-563	PAR-CLIP	22100165
MIRT446027	hsa-miR-6826-3p	PAR-CLIP	22100165
MIRT446026	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446025	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT446024	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT446023	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT1244758	hsa-let-7a	CLIP-seq
MIRT1244759	hsa-let-7b	CLIP-seq
MIRT1244760	hsa-let-7c	CLIP-seq
MIRT1244761	hsa-let-7d	CLIP-seq
MIRT1244762	hsa-let-7e	CLIP-seq
MIRT1244763	hsa-let-7f	CLIP-seq
MIRT1244764	hsa-let-7g	CLIP-seq
MIRT1244765	hsa-let-7i	CLIP-seq
MIRT1244766	hsa-miR-106a	CLIP-seq
MIRT1244767	hsa-miR-106b	CLIP-seq
MIRT1244768	hsa-miR-1202	CLIP-seq
MIRT1244769	hsa-miR-1207-5p	CLIP-seq
MIRT1244770	hsa-miR-1254	CLIP-seq
MIRT1244771	hsa-miR-128	CLIP-seq
MIRT1244772	hsa-miR-1293	CLIP-seq
MIRT1244773	hsa-miR-1304	CLIP-seq
MIRT1244774	hsa-miR-1321	CLIP-seq
MIRT1244775	hsa-miR-1343	CLIP-seq
MIRT1244776	hsa-miR-143	CLIP-seq
MIRT1244777	hsa-miR-17	CLIP-seq
MIRT1244778	hsa-miR-1827	CLIP-seq
MIRT1244779	hsa-miR-20a	CLIP-seq
MIRT1244780	hsa-miR-20b	CLIP-seq
MIRT1244781	hsa-miR-2467-3p	CLIP-seq
MIRT1244782	hsa-miR-27a	CLIP-seq
MIRT1244783	hsa-miR-27b	CLIP-seq
MIRT1244784	hsa-miR-30a	CLIP-seq
MIRT1244785	hsa-miR-30b	CLIP-seq
MIRT1244786	hsa-miR-30c	CLIP-seq
MIRT1244787	hsa-miR-30d	CLIP-seq
MIRT1244788	hsa-miR-30e	CLIP-seq
MIRT1244789	hsa-miR-3116	CLIP-seq
MIRT1244790	hsa-miR-3151	CLIP-seq
MIRT1244791	hsa-miR-3154	CLIP-seq
MIRT1244792	hsa-miR-3161	CLIP-seq
MIRT1244793	hsa-miR-3166	CLIP-seq
MIRT1244794	hsa-miR-3175	CLIP-seq
MIRT1244795	hsa-miR-3179	CLIP-seq
MIRT1244796	hsa-miR-3184	CLIP-seq
MIRT1244797	hsa-miR-3194-5p	CLIP-seq
MIRT1244798	hsa-miR-339-3p	CLIP-seq
MIRT1244799	hsa-miR-3667-3p	CLIP-seq
MIRT1244800	hsa-miR-3677-5p	CLIP-seq
MIRT1244801	hsa-miR-3678-3p	CLIP-seq
MIRT1244802	hsa-miR-3689a-5p	CLIP-seq
MIRT1244803	hsa-miR-3689b	CLIP-seq
MIRT1244804	hsa-miR-3689e	CLIP-seq
MIRT1244805	hsa-miR-3689f	CLIP-seq
MIRT1244806	hsa-miR-3690	CLIP-seq
MIRT1244807	hsa-miR-3714	CLIP-seq
MIRT1244808	hsa-miR-3943	CLIP-seq
MIRT1244809	hsa-miR-3972	CLIP-seq
MIRT1244810	hsa-miR-423-5p	CLIP-seq
MIRT1244811	hsa-miR-4252	CLIP-seq
MIRT1244812	hsa-miR-4254	CLIP-seq
MIRT1244813	hsa-miR-4257	CLIP-seq
MIRT1244814	hsa-miR-4270	CLIP-seq
MIRT1244815	hsa-miR-4293	CLIP-seq
MIRT1244816	hsa-miR-4297	CLIP-seq
MIRT1244817	hsa-miR-4302	CLIP-seq
MIRT1244818	hsa-miR-4318	CLIP-seq
MIRT1244819	hsa-miR-4423-5p	CLIP-seq
MIRT1244820	hsa-miR-4435	CLIP-seq
MIRT1244821	hsa-miR-4441	CLIP-seq
MIRT1244822	hsa-miR-4446-3p	CLIP-seq
MIRT1244823	hsa-miR-4458	CLIP-seq
MIRT1244824	hsa-miR-4461	CLIP-seq
MIRT1244825	hsa-miR-4477b	CLIP-seq
MIRT1244826	hsa-miR-4483	CLIP-seq
MIRT1244827	hsa-miR-4495	CLIP-seq
MIRT1244828	hsa-miR-4500	CLIP-seq
MIRT1244829	hsa-miR-4514	CLIP-seq
MIRT1244830	hsa-miR-4645-5p	CLIP-seq
MIRT1244831	hsa-miR-4648	CLIP-seq
MIRT1244832	hsa-miR-4649-3p	CLIP-seq
MIRT1244833	hsa-miR-4654	CLIP-seq
MIRT1244834	hsa-miR-4673	CLIP-seq
MIRT1244835	hsa-miR-4688	CLIP-seq
MIRT1244836	hsa-miR-4692	CLIP-seq
MIRT1244837	hsa-miR-4693-3p	CLIP-seq
MIRT1244838	hsa-miR-4693-5p	CLIP-seq
MIRT1244839	hsa-miR-4717-5p	CLIP-seq
MIRT1244840	hsa-miR-4728-5p	CLIP-seq
MIRT1244841	hsa-miR-4729	CLIP-seq
MIRT1244842	hsa-miR-4739	CLIP-seq
MIRT1244843	hsa-miR-4747-5p	CLIP-seq
MIRT1244844	hsa-miR-4755-3p	CLIP-seq
MIRT1244845	hsa-miR-4756-5p	CLIP-seq
MIRT1244846	hsa-miR-4763-3p	CLIP-seq
MIRT1244847	hsa-miR-4769-5p	CLIP-seq
MIRT1244848	hsa-miR-4770	CLIP-seq
MIRT1244849	hsa-miR-4779	CLIP-seq
MIRT1244850	hsa-miR-485-5p	CLIP-seq
MIRT1244851	hsa-miR-486-3p	CLIP-seq
MIRT1244852	hsa-miR-502-5p	CLIP-seq
MIRT1244853	hsa-miR-519a	CLIP-seq
MIRT1244854	hsa-miR-519b-3p	CLIP-seq
MIRT1244855	hsa-miR-519c-3p	CLIP-seq
MIRT1244856	hsa-miR-519d	CLIP-seq
MIRT1244857	hsa-miR-520g	CLIP-seq
MIRT1244858	hsa-miR-520h	CLIP-seq
MIRT1244859	hsa-miR-596	CLIP-seq
MIRT1244860	hsa-miR-604	CLIP-seq
MIRT1244861	hsa-miR-638	CLIP-seq
MIRT1244862	hsa-miR-765	CLIP-seq
MIRT1244863	hsa-miR-888	CLIP-seq
MIRT1244864	hsa-miR-892a	CLIP-seq
MIRT1244865	hsa-miR-93	CLIP-seq
MIRT1244866	hsa-miR-940	CLIP-seq
MIRT1244867	hsa-miR-98	CLIP-seq
MIRT1244758	hsa-let-7a	CLIP-seq
MIRT1244759	hsa-let-7b	CLIP-seq
MIRT1244760	hsa-let-7c	CLIP-seq
MIRT1244761	hsa-let-7d	CLIP-seq
MIRT1244762	hsa-let-7e	CLIP-seq
MIRT1244763	hsa-let-7f	CLIP-seq
MIRT1244764	hsa-let-7g	CLIP-seq
MIRT1244765	hsa-let-7i	CLIP-seq
MIRT1244766	hsa-miR-106a	CLIP-seq
MIRT1244767	hsa-miR-106b	CLIP-seq
MIRT1244770	hsa-miR-1254	CLIP-seq
MIRT1244868	hsa-miR-1273e	CLIP-seq
MIRT1244869	hsa-miR-1273f	CLIP-seq
MIRT1244771	hsa-miR-128	CLIP-seq
MIRT1244773	hsa-miR-1304	CLIP-seq
MIRT1244870	hsa-miR-139-5p	CLIP-seq
MIRT1244776	hsa-miR-143	CLIP-seq
MIRT1244871	hsa-miR-145	CLIP-seq
MIRT1244777	hsa-miR-17	CLIP-seq
MIRT1244872	hsa-miR-1909	CLIP-seq
MIRT1244779	hsa-miR-20a	CLIP-seq
MIRT1244780	hsa-miR-20b	CLIP-seq
MIRT1244873	hsa-miR-217	CLIP-seq
MIRT1244781	hsa-miR-2467-3p	CLIP-seq
MIRT1244782	hsa-miR-27a	CLIP-seq
MIRT1244783	hsa-miR-27b	CLIP-seq
MIRT1244874	hsa-miR-3064-3p	CLIP-seq
MIRT1244789	hsa-miR-3116	CLIP-seq
MIRT1244791	hsa-miR-3154	CLIP-seq
MIRT1244794	hsa-miR-3175	CLIP-seq
MIRT1244795	hsa-miR-3179	CLIP-seq
MIRT1244796	hsa-miR-3184	CLIP-seq
MIRT1244801	hsa-miR-3678-3p	CLIP-seq
MIRT1244875	hsa-miR-3910	CLIP-seq
MIRT1244810	hsa-miR-423-5p	CLIP-seq
MIRT1244812	hsa-miR-4254	CLIP-seq
MIRT1244813	hsa-miR-4257	CLIP-seq
MIRT1244876	hsa-miR-4271	CLIP-seq
MIRT1244815	hsa-miR-4293	CLIP-seq
MIRT1244877	hsa-miR-431	CLIP-seq
MIRT1244823	hsa-miR-4458	CLIP-seq
MIRT1244825	hsa-miR-4477b	CLIP-seq
MIRT1244878	hsa-miR-4481	CLIP-seq
MIRT1244828	hsa-miR-4500	CLIP-seq
MIRT1244879	hsa-miR-455-3p	CLIP-seq
MIRT1244880	hsa-miR-4662a-3p	CLIP-seq
MIRT1244881	hsa-miR-4685-5p	CLIP-seq
MIRT1244835	hsa-miR-4688	CLIP-seq
MIRT1244882	hsa-miR-4708-5p	CLIP-seq
MIRT1244883	hsa-miR-4710	CLIP-seq
MIRT1244884	hsa-miR-4725-3p	CLIP-seq
MIRT1244840	hsa-miR-4728-5p	CLIP-seq
MIRT1244885	hsa-miR-4738-3p	CLIP-seq
MIRT1244886	hsa-miR-4745-5p	CLIP-seq
MIRT1244843	hsa-miR-4747-5p	CLIP-seq
MIRT1244887	hsa-miR-4756-3p	CLIP-seq
MIRT1244888	hsa-miR-4758-5p	CLIP-seq
MIRT1244848	hsa-miR-4770	CLIP-seq
MIRT1244849	hsa-miR-4779	CLIP-seq
MIRT1244889	hsa-miR-4792	CLIP-seq
MIRT1244853	hsa-miR-519a	CLIP-seq
MIRT1244854	hsa-miR-519b-3p	CLIP-seq
MIRT1244855	hsa-miR-519c-3p	CLIP-seq
MIRT1244856	hsa-miR-519d	CLIP-seq
MIRT1244857	hsa-miR-520g	CLIP-seq
MIRT1244858	hsa-miR-520h	CLIP-seq
MIRT1244890	hsa-miR-548v	CLIP-seq
MIRT1244859	hsa-miR-596	CLIP-seq
MIRT1244861	hsa-miR-638	CLIP-seq
MIRT1244862	hsa-miR-765	CLIP-seq
MIRT1244865	hsa-miR-93	CLIP-seq
MIRT1244891	hsa-miR-938	CLIP-seq
MIRT1244867	hsa-miR-98	CLIP-seq
MIRT1244758	hsa-let-7a	CLIP-seq
MIRT1244759	hsa-let-7b	CLIP-seq
MIRT1244760	hsa-let-7c	CLIP-seq
MIRT1244761	hsa-let-7d	CLIP-seq
MIRT1244762	hsa-let-7e	CLIP-seq
MIRT1244763	hsa-let-7f	CLIP-seq
MIRT1244764	hsa-let-7g	CLIP-seq
MIRT1244765	hsa-let-7i	CLIP-seq
MIRT1244766	hsa-miR-106a	CLIP-seq
MIRT1244767	hsa-miR-106b	CLIP-seq
MIRT2072380	hsa-miR-1179	CLIP-seq
MIRT2072381	hsa-miR-1182	CLIP-seq
MIRT2072382	hsa-miR-1237	CLIP-seq
MIRT2072383	hsa-miR-124	CLIP-seq
MIRT2072384	hsa-miR-1245b-3p	CLIP-seq
MIRT2072385	hsa-miR-1248	CLIP-seq
MIRT1244770	hsa-miR-1254	CLIP-seq
MIRT2072386	hsa-miR-125a-5p	CLIP-seq
MIRT2072387	hsa-miR-125b	CLIP-seq
MIRT1244771	hsa-miR-128	CLIP-seq
MIRT1244772	hsa-miR-1293	CLIP-seq
MIRT2072388	hsa-miR-1294	CLIP-seq
MIRT2072389	hsa-miR-135a	CLIP-seq
MIRT2072390	hsa-miR-135b	CLIP-seq
MIRT1244871	hsa-miR-145	CLIP-seq
MIRT2072391	hsa-miR-1470	CLIP-seq
MIRT2072392	hsa-miR-15a	CLIP-seq
MIRT2072393	hsa-miR-15b	CLIP-seq
MIRT2072394	hsa-miR-16	CLIP-seq
MIRT1244777	hsa-miR-17	CLIP-seq
MIRT2072395	hsa-miR-1825	CLIP-seq
MIRT1244778	hsa-miR-1827	CLIP-seq
MIRT1244872	hsa-miR-1909	CLIP-seq
MIRT2072396	hsa-miR-1912	CLIP-seq
MIRT2072397	hsa-miR-195	CLIP-seq
MIRT2072398	hsa-miR-199a-5p	CLIP-seq
MIRT2072399	hsa-miR-199b-5p	CLIP-seq
MIRT1244779	hsa-miR-20a	CLIP-seq
MIRT1244780	hsa-miR-20b	CLIP-seq
MIRT2072400	hsa-miR-2116	CLIP-seq
MIRT1244873	hsa-miR-217	CLIP-seq
MIRT1244781	hsa-miR-2467-3p	CLIP-seq
MIRT1244782	hsa-miR-27a	CLIP-seq
MIRT1244783	hsa-miR-27b	CLIP-seq
MIRT2072401	hsa-miR-302a	CLIP-seq
MIRT2072402	hsa-miR-302b	CLIP-seq
MIRT2072403	hsa-miR-302c	CLIP-seq
MIRT2072404	hsa-miR-302d	CLIP-seq
MIRT2072405	hsa-miR-302e	CLIP-seq
MIRT1244784	hsa-miR-30a	CLIP-seq
MIRT1244785	hsa-miR-30b	CLIP-seq
MIRT1244786	hsa-miR-30c	CLIP-seq
MIRT1244787	hsa-miR-30d	CLIP-seq
MIRT1244788	hsa-miR-30e	CLIP-seq
MIRT1244789	hsa-miR-3116	CLIP-seq
MIRT2072406	hsa-miR-3119	CLIP-seq
MIRT2072407	hsa-miR-3120-5p	CLIP-seq
MIRT2072408	hsa-miR-3125	CLIP-seq
MIRT2072409	hsa-miR-3128	CLIP-seq
MIRT2072410	hsa-miR-3135b	CLIP-seq
MIRT2072411	hsa-miR-3144-5p	CLIP-seq
MIRT1244790	hsa-miR-3151	CLIP-seq
MIRT2072412	hsa-miR-3153	CLIP-seq
MIRT1244791	hsa-miR-3154	CLIP-seq
MIRT1244792	hsa-miR-3161	CLIP-seq
MIRT2072413	hsa-miR-3173-3p	CLIP-seq
MIRT1244794	hsa-miR-3175	CLIP-seq
MIRT1244795	hsa-miR-3179	CLIP-seq
MIRT2072414	hsa-miR-3181	CLIP-seq
MIRT1244796	hsa-miR-3184	CLIP-seq
MIRT2072415	hsa-miR-3192	CLIP-seq
MIRT1244797	hsa-miR-3194-5p	CLIP-seq
MIRT2072416	hsa-miR-331-3p	CLIP-seq
MIRT2072417	hsa-miR-338-3p	CLIP-seq
MIRT2072418	hsa-miR-3649	CLIP-seq
MIRT2072419	hsa-miR-3652	CLIP-seq
MIRT1244800	hsa-miR-3677-5p	CLIP-seq
MIRT1244801	hsa-miR-3678-3p	CLIP-seq
MIRT2072420	hsa-miR-3689d	CLIP-seq
MIRT2072421	hsa-miR-372	CLIP-seq
MIRT2072422	hsa-miR-373	CLIP-seq
MIRT1244875	hsa-miR-3910	CLIP-seq
MIRT2072423	hsa-miR-3916	CLIP-seq
MIRT2072424	hsa-miR-3925-3p	CLIP-seq
MIRT1244808	hsa-miR-3943	CLIP-seq
MIRT1244810	hsa-miR-423-5p	CLIP-seq
MIRT2072425	hsa-miR-424	CLIP-seq
MIRT1244812	hsa-miR-4254	CLIP-seq
MIRT2072426	hsa-miR-4255	CLIP-seq
MIRT1244813	hsa-miR-4257	CLIP-seq
MIRT1244876	hsa-miR-4271	CLIP-seq
MIRT2072427	hsa-miR-4276	CLIP-seq
MIRT1244815	hsa-miR-4293	CLIP-seq
MIRT1244817	hsa-miR-4302	CLIP-seq
MIRT2072428	hsa-miR-4310	CLIP-seq
MIRT2072429	hsa-miR-4314	CLIP-seq
MIRT2072430	hsa-miR-4316	CLIP-seq
MIRT2072431	hsa-miR-4319	CLIP-seq
MIRT2072432	hsa-miR-4430	CLIP-seq
MIRT2072433	hsa-miR-4434	CLIP-seq
MIRT1244820	hsa-miR-4435	CLIP-seq
MIRT2072434	hsa-miR-4436a	CLIP-seq
MIRT1244823	hsa-miR-4458	CLIP-seq
MIRT2072435	hsa-miR-4470	CLIP-seq
MIRT1244825	hsa-miR-4477b	CLIP-seq
MIRT1244878	hsa-miR-4481	CLIP-seq
MIRT1244826	hsa-miR-4483	CLIP-seq
MIRT2072436	hsa-miR-4487	CLIP-seq
MIRT1244827	hsa-miR-4495	CLIP-seq
MIRT1244828	hsa-miR-4500	CLIP-seq
MIRT2072437	hsa-miR-4505	CLIP-seq
MIRT2072438	hsa-miR-4516	CLIP-seq
MIRT2072439	hsa-miR-4533	CLIP-seq
MIRT1244879	hsa-miR-455-3p	CLIP-seq
MIRT2072440	hsa-miR-4640-5p	CLIP-seq
MIRT1244830	hsa-miR-4645-5p	CLIP-seq
MIRT2072441	hsa-miR-4646-5p	CLIP-seq
MIRT1244880	hsa-miR-4662a-3p	CLIP-seq
MIRT2072442	hsa-miR-4667-3p	CLIP-seq
MIRT2072443	hsa-miR-4668-5p	CLIP-seq
MIRT1244834	hsa-miR-4673	CLIP-seq
MIRT2072444	hsa-miR-4677-5p	CLIP-seq
MIRT1244837	hsa-miR-4693-3p	CLIP-seq
MIRT1244882	hsa-miR-4708-5p	CLIP-seq
MIRT2072445	hsa-miR-4717-3p	CLIP-seq
MIRT1244884	hsa-miR-4725-3p	CLIP-seq
MIRT2072446	hsa-miR-4726-5p	CLIP-seq
MIRT1244885	hsa-miR-4738-3p	CLIP-seq
MIRT1244886	hsa-miR-4745-5p	CLIP-seq
MIRT1244843	hsa-miR-4747-5p	CLIP-seq
MIRT1244887	hsa-miR-4756-3p	CLIP-seq
MIRT1244888	hsa-miR-4758-5p	CLIP-seq
MIRT2072447	hsa-miR-4766-5p	CLIP-seq
MIRT2072448	hsa-miR-4778-3p	CLIP-seq
MIRT1244849	hsa-miR-4779	CLIP-seq
MIRT2072449	hsa-miR-4797-5p	CLIP-seq
MIRT1244851	hsa-miR-486-3p	CLIP-seq
MIRT2072450	hsa-miR-491-5p	CLIP-seq
MIRT2072451	hsa-miR-497	CLIP-seq
MIRT2072452	hsa-miR-506	CLIP-seq
MIRT2072453	hsa-miR-508-5p	CLIP-seq
MIRT2072454	hsa-miR-518a-5p	CLIP-seq
MIRT1244853	hsa-miR-519a	CLIP-seq
MIRT1244854	hsa-miR-519b-3p	CLIP-seq
MIRT1244855	hsa-miR-519c-3p	CLIP-seq
MIRT1244856	hsa-miR-519d	CLIP-seq
MIRT2072455	hsa-miR-520a-3p	CLIP-seq
MIRT2072456	hsa-miR-520b	CLIP-seq
MIRT2072457	hsa-miR-520c-3p	CLIP-seq
MIRT2072458	hsa-miR-520d-3p	CLIP-seq
MIRT2072459	hsa-miR-520e	CLIP-seq
MIRT1244857	hsa-miR-520g	CLIP-seq
MIRT1244858	hsa-miR-520h	CLIP-seq
MIRT2072460	hsa-miR-527	CLIP-seq
MIRT2072461	hsa-miR-551a	CLIP-seq
MIRT2072462	hsa-miR-551b	CLIP-seq
MIRT1244859	hsa-miR-596	CLIP-seq
MIRT2072463	hsa-miR-711	CLIP-seq
MIRT2072464	hsa-miR-760	CLIP-seq
MIRT1244862	hsa-miR-765	CLIP-seq
MIRT2072465	hsa-miR-877	CLIP-seq
MIRT2072466	hsa-miR-922	CLIP-seq
MIRT1244865	hsa-miR-93	CLIP-seq
MIRT1244891	hsa-miR-938	CLIP-seq
MIRT1244867	hsa-miR-98	CLIP-seq
MIRT1244766	hsa-miR-106a	CLIP-seq
MIRT1244767	hsa-miR-106b	CLIP-seq
MIRT2299561	hsa-miR-1225-5p	CLIP-seq
MIRT2072383	hsa-miR-124	CLIP-seq
MIRT2072384	hsa-miR-1245b-3p	CLIP-seq
MIRT1244770	hsa-miR-1254	CLIP-seq
MIRT1244868	hsa-miR-1273e	CLIP-seq
MIRT1244774	hsa-miR-1321	CLIP-seq
MIRT2072389	hsa-miR-135a	CLIP-seq
MIRT2072390	hsa-miR-135b	CLIP-seq
MIRT1244871	hsa-miR-145	CLIP-seq
MIRT1244777	hsa-miR-17	CLIP-seq
MIRT1244778	hsa-miR-1827	CLIP-seq
MIRT2299562	hsa-miR-1972	CLIP-seq
MIRT1244779	hsa-miR-20a	CLIP-seq
MIRT1244780	hsa-miR-20b	CLIP-seq
MIRT2299563	hsa-miR-2110	CLIP-seq
MIRT1244873	hsa-miR-217	CLIP-seq
MIRT1244781	hsa-miR-2467-3p	CLIP-seq
MIRT1244789	hsa-miR-3116	CLIP-seq
MIRT2072409	hsa-miR-3128	CLIP-seq
MIRT1244791	hsa-miR-3154	CLIP-seq
MIRT1244795	hsa-miR-3179	CLIP-seq
MIRT1244796	hsa-miR-3184	CLIP-seq
MIRT2299564	hsa-miR-3609	CLIP-seq
MIRT2072419	hsa-miR-3652	CLIP-seq
MIRT2299565	hsa-miR-3659	CLIP-seq
MIRT1244810	hsa-miR-423-5p	CLIP-seq
MIRT1244811	hsa-miR-4252	CLIP-seq
MIRT1244812	hsa-miR-4254	CLIP-seq
MIRT1244813	hsa-miR-4257	CLIP-seq
MIRT1244876	hsa-miR-4271	CLIP-seq
MIRT1244877	hsa-miR-431	CLIP-seq
MIRT2072432	hsa-miR-4430	CLIP-seq
MIRT2072434	hsa-miR-4436a	CLIP-seq
MIRT2072435	hsa-miR-4470	CLIP-seq
MIRT1244825	hsa-miR-4477b	CLIP-seq
MIRT1244878	hsa-miR-4481	CLIP-seq
MIRT2072437	hsa-miR-4505	CLIP-seq
MIRT1244879	hsa-miR-455-3p	CLIP-seq
MIRT2072440	hsa-miR-4640-5p	CLIP-seq
MIRT2299566	hsa-miR-4658	CLIP-seq
MIRT1244880	hsa-miR-4662a-3p	CLIP-seq
MIRT1244882	hsa-miR-4708-5p	CLIP-seq
MIRT1244883	hsa-miR-4710	CLIP-seq
MIRT2072445	hsa-miR-4717-3p	CLIP-seq
MIRT1244839	hsa-miR-4717-5p	CLIP-seq
MIRT1244884	hsa-miR-4725-3p	CLIP-seq
MIRT2072446	hsa-miR-4726-5p	CLIP-seq
MIRT1244885	hsa-miR-4738-3p	CLIP-seq
MIRT1244842	hsa-miR-4739	CLIP-seq
MIRT1244886	hsa-miR-4745-5p	CLIP-seq
MIRT1244845	hsa-miR-4756-5p	CLIP-seq
MIRT1244888	hsa-miR-4758-5p	CLIP-seq
MIRT1244889	hsa-miR-4792	CLIP-seq
MIRT2299567	hsa-miR-4796-3p	CLIP-seq
MIRT2072450	hsa-miR-491-5p	CLIP-seq
MIRT2072452	hsa-miR-506	CLIP-seq
MIRT2072454	hsa-miR-518a-5p	CLIP-seq
MIRT1244856	hsa-miR-519d	CLIP-seq
MIRT2072460	hsa-miR-527	CLIP-seq
MIRT2299568	hsa-miR-548ah	CLIP-seq
MIRT2299569	hsa-miR-574-5p	CLIP-seq
MIRT2299570	hsa-miR-576-3p	CLIP-seq
MIRT2299571	hsa-miR-642b	CLIP-seq
MIRT1244865	hsa-miR-93	CLIP-seq
MIRT1244891	hsa-miR-938	CLIP-seq
MIRT1244768	hsa-miR-1202	CLIP-seq
MIRT2072389	hsa-miR-135a	CLIP-seq
MIRT2072390	hsa-miR-135b	CLIP-seq
MIRT1244793	hsa-miR-3166	CLIP-seq
MIRT1244807	hsa-miR-3714	CLIP-seq
MIRT1244809	hsa-miR-3972	CLIP-seq
MIRT2392745	hsa-miR-4459	CLIP-seq
MIRT1244825	hsa-miR-4477b	CLIP-seq
MIRT2392746	hsa-miR-4488	CLIP-seq
MIRT1244829	hsa-miR-4514	CLIP-seq
MIRT1244879	hsa-miR-455-3p	CLIP-seq
MIRT1244830	hsa-miR-4645-5p	CLIP-seq
MIRT1244834	hsa-miR-4673	CLIP-seq
MIRT1244836	hsa-miR-4692	CLIP-seq
MIRT2392747	hsa-miR-4697-5p	CLIP-seq
MIRT2392748	hsa-miR-4722-5p	CLIP-seq
MIRT1244844	hsa-miR-4755-3p	CLIP-seq
MIRT1244891	hsa-miR-938	CLIP-seq
MIRT1244866	hsa-miR-940	CLIP-seq
MIRT1244766	hsa-miR-106a	CLIP-seq
MIRT1244767	hsa-miR-106b	CLIP-seq
MIRT1244777	hsa-miR-17	CLIP-seq
MIRT1244779	hsa-miR-20a	CLIP-seq
MIRT1244780	hsa-miR-20b	CLIP-seq
MIRT2456775	hsa-miR-28-3p	CLIP-seq
MIRT2456776	hsa-miR-3120-3p	CLIP-seq
MIRT2299564	hsa-miR-3609	CLIP-seq
MIRT2456777	hsa-miR-3662	CLIP-seq
MIRT2456778	hsa-miR-3926	CLIP-seq
MIRT2456779	hsa-miR-4511	CLIP-seq
MIRT2456780	hsa-miR-4639-5p	CLIP-seq
MIRT2456781	hsa-miR-4698	CLIP-seq
MIRT2299567	hsa-miR-4796-3p	CLIP-seq
MIRT1244850	hsa-miR-485-5p	CLIP-seq
MIRT1244856	hsa-miR-519d	CLIP-seq
MIRT2299568	hsa-miR-548ah	CLIP-seq
MIRT2456782	hsa-miR-548b-3p	CLIP-seq
MIRT2456783	hsa-miR-580	CLIP-seq
MIRT1244865	hsa-miR-93	CLIP-seq
MIRT2465864	hsa-miR-4706	CLIP-seq
MIRT2465865	hsa-miR-4734	CLIP-seq
MIRT2465866	hsa-miR-4749-5p	CLIP-seq
MIRT2465867	hsa-miR-744	CLIP-seq
MIRT1244769	hsa-miR-1207-5p	CLIP-seq
MIRT2596271	hsa-miR-1271	CLIP-seq
MIRT2596272	hsa-miR-182	CLIP-seq
MIRT2596273	hsa-miR-296-3p	CLIP-seq
MIRT1244790	hsa-miR-3151	CLIP-seq
MIRT2596274	hsa-miR-3165	CLIP-seq
MIRT2596275	hsa-miR-3189-3p	CLIP-seq
MIRT2596276	hsa-miR-3650	CLIP-seq
MIRT2596277	hsa-miR-378g	CLIP-seq
MIRT2596278	hsa-miR-4299	CLIP-seq
MIRT2596279	hsa-miR-4447	CLIP-seq
MIRT2596280	hsa-miR-4448	CLIP-seq
MIRT2596281	hsa-miR-4456	CLIP-seq
MIRT2596282	hsa-miR-4472	CLIP-seq
MIRT2596283	hsa-miR-4535	CLIP-seq
MIRT1244846	hsa-miR-4763-3p	CLIP-seq
MIRT2596284	hsa-miR-4787-3p	CLIP-seq
MIRT2596285	hsa-miR-4800-5p	CLIP-seq
MIRT1244851	hsa-miR-486-3p	CLIP-seq
MIRT2072450	hsa-miR-491-5p	CLIP-seq
MIRT2596286	hsa-miR-492	CLIP-seq
MIRT2596287	hsa-miR-548q	CLIP-seq
MIRT2596288	hsa-miR-661	CLIP-seq
MIRT2596289	hsa-miR-96	CLIP-seq
MIRT1244868	hsa-miR-1273e	CLIP-seq
MIRT2299563	hsa-miR-2110	CLIP-seq
MIRT1244873	hsa-miR-217	CLIP-seq
MIRT1244876	hsa-miR-4271	CLIP-seq
MIRT1244877	hsa-miR-431	CLIP-seq
MIRT2688283	hsa-miR-4471	CLIP-seq
MIRT1244878	hsa-miR-4481	CLIP-seq
MIRT2688284	hsa-miR-4680-5p	CLIP-seq
MIRT1244883	hsa-miR-4710	CLIP-seq
MIRT1244884	hsa-miR-4725-3p	CLIP-seq
MIRT1244885	hsa-miR-4738-3p	CLIP-seq
MIRT1244886	hsa-miR-4745-5p	CLIP-seq
MIRT1244888	hsa-miR-4758-5p	CLIP-seq
MIRT1244889	hsa-miR-4792	CLIP-seq
MIRT2072450	hsa-miR-491-5p	CLIP-seq
MIRT2688285	hsa-miR-618	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004416	Function	Hydroxyacylglutathione hydrolase activity	IEA
GO:0005515	Function	Protein binding	IPI	25066297, 25416956, 25910212, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IDA	22214848
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019243	Process	Methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione	IEA
GO:0032225	Process	Regulation of synaptic transmission, dopaminergic	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046929	Process	Negative regulation of neurotransmitter secretion	IEA
GO:0046929	Process	Negative regulation of neurotransmitter secretion	IEA
GO:0046929	Process	Negative regulation of neurotransmitter secretion	IMP	25730884
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0099523	Component	Presynaptic cytosol	IEA

MIM	HGNC	e!Ensembl
609023	9153	ENSG00000127838

Q8N490

Protein name

Probable thioesterase PNKD (EC 3.1.2.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2)

Protein function

Probable thioesterase that may play a role in cellular detoxification processes; it likely acts on a yet-unknown alpha-hydroxythioester substrate (Probable). In vitro, it is able to catalyze the hydrolysis of S-D-lactoyl-glutathione to form glut

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00753	Lactamase_B	145 → 291	Metallo-beta-lactamase superfamily	Domain
PF16123	HAGH_C	292 → 382	Hydroxyacylglutathione hydrolase C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. {ECO:0000269|PubMed:15188056, ECO:0000269|PubMed:15262732, ECO:0000269|PubMe

Sequence

MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPEL
EYIPRKRGKNPMKAVGLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVK
VLPIPVLSDNYSYLIIDTQAQLAVAVDPSDPRAVQASIEKEGVTLVAILCTHKHWDHSGG
NRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGRLQIRALATPGHTQGHLVYLLDG
EPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLGLGDDTLLWPGHEYAEENLGF
AGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLALQEALGPGPGP
TGDDDYSRAQLLEELRRLKDMHKSK

Sequence length

385

Interactions

View interactions

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Episodic hemiplegia	Likely pathogenic; Pathogenic	rs121434511	RCV000414943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal dyskinesia	Likely pathogenic; Pathogenic	rs121434511	RCV000414943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal dystonia	Likely pathogenic; Pathogenic	rs121434511	RCV000414943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal nonkinesigenic dyskinesia	Likely pathogenic; Pathogenic	rs121434511, rs121434512	RCV002512664 RCV001050396	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal nonkinesigenic dyskinesia 1	Likely pathogenic; Pathogenic	rs121434511, rs121434512	RCV000001969 RCV000001970	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIAS, PAROXYSMAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA ANGIOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NON-KINESIGENIC DYSKINESIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PNKD-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (155)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	28960316, 29917119, 30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30498349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	20959442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	31601134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	31601134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	11708997, 17185385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30067604		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23696030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29520165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	34737749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29520165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	11343230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25323766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21221852, 25066297, 26323721, 26662806, 29103325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25066297, 30208917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	27590486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18948272	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26823810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25323766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23696030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35456426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21702971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22424133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	BEFREE	29429572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30067604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20600011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26909603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	28960316, 29917119, 30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27609023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	28960316, 29917119, 30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	14758335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12883532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20959442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	11708997, 17185385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28453472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31682627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29429572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29923263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29923263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29923263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	BEFREE	23622292, 26598494, 9371903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinesias, Paroxysmal	Dyskinesia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinesias, Paroxysmal	Dyskinesia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	10323309, 11346027, 19124534, 31353980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	LHGDN	16632198, 16972263, 18948699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29923263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35041927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DYSTONIA 12	Dystonia	BEFREE	12194383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia 18	Dystonia	Pubtator	27098784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	22266882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	BEFREE	22266882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	22266882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31682627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29511377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	26598494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	29790589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	26598494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	27098784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26012551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	11343230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	28894297		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	12883532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19959872, 19959875, 21069424, 21191291, 22365573, 29923263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26210163, 32535589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29688249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	26125933		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12101424, 12482966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32871587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15313893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29103325, 31419949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	10706737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29103325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26968426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	37099020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	30049538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10336460, 21221852, 25066297, 26323721, 26662806, 29103325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	28960316, 29917119, 30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21702971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26449615, 28608409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16621903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25323766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15743678, 23696030, 29103325, 30049538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	28960316, 29917119, 30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	25592374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25592374	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28453472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	20622853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	26598494, 8659518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23980095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31462737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29103325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	27098784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16324198, 21748337, 22395314, 23082061, 23917076, 24048703, 25066297, 26323721, 26708143, 26909603, 28169232, 29103325, 9052406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29615966, 29700607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21748337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22365573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28211912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21702971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21702971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24173243, 26449615, 28608409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23696030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28024573, 28705551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	11708997, 17185385, 23893446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal non-kinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	BEFREE	15262732, 15824259, 16632198, 16717228, 16972263, 17515540, 22967746, 29103325, 9371903		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	27098784	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	ORPHANET_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	15262732, 15824259, 16632198, 16717228, 16972263, 17515540, 22752065, 22967746, 25107857, 29103325, 8659518, 9371903		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	CLINVAR_DG	15262732, 15496428		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	UNIPROT_DG	15262732, 15824259, 16632198, 16717228, 16972263		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	GENOMICS_ENGLAND_DG	15824259		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	CTD_human_DG	21487022		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma	Pheochromocytoma	BEFREE	20959442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	BEFREE	22266882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	26012551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	31601134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	11708997, 17185385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	11050037, 11343230, 8565296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	20045334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31682627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29179729	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20959442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	8740692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	14758335, 8646891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	29641463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22488178, 31601134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	12574946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	11389058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23082061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	12093078, 29700607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16621903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16621903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	28894297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	28894297	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trismus	Trismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19016911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type II	Usher Syndrome	BEFREE	8188267, 8740692		★★★★★ ★☆☆☆☆ Found in Text Mining only

PNKD (PNKD metallo-beta-lactamase domain containing)