C19orf12 (chromosome 19 open reading frame 12)

Gene

• Entrez ID: 83636
• Gene name: Chromosome 19 open reading frame 12
• Gene symbol: C19orf12
• Synonyms (NCBI Gene): MPAN, NBIA3, NBIA4, SPG43
• Chromosome: 19
• Chromosome location: 19q12
• Summary: This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encodin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146170087	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided, pathogenic	Missense variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs200133991	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs201118405	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Synonymous variant, 5 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant
rs201987973	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs376103979	C>G,T	Pathogenic, likely-pathogenic	5 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs387907173	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397514477	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic downstream transcript variant, missense variant, intron variant
rs398122409	CCC>-,CC,CCCC	Pathogenic	Genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant
rs515726204	GACAGCCCCCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs515726205	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs752450983	C>A,G,T	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, genic downstream transcript variant, missense variant
rs797045423	TC>ACTGTTCCTCCA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064797235	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1352744778	T>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1424291552	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, intron variant, 5 prime UTR variant, missense variant, genic downstream transcript variant
rs1555714808	C>T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1568326754	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599534276	AT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599534394	CTTGTCATCCA>-	Pathogenic	5 prime UTR variant, genic downstream transcript variant, coding sequence variant, initiator codon variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025866	hsa-miR-7-5p	Sequencing	20371350
MIRT042283	hsa-miR-484	CLASH	23622248
MIRT549575	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT549574	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT549573	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT549572	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT549571	hsa-miR-9500	PAR-CLIP	21572407
MIRT117718	hsa-miR-1279	PAR-CLIP	21572407
MIRT549570	hsa-miR-187-5p	PAR-CLIP	21572407
MIRT549569	hsa-miR-548v	PAR-CLIP	21572407
MIRT549568	hsa-miR-221-3p	PAR-CLIP	21572407
MIRT549567	hsa-miR-222-3p	PAR-CLIP	21572407
MIRT549566	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT549565	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT549564	hsa-miR-6753-3p	PAR-CLIP	21572407
MIRT549563	hsa-miR-7107-3p	PAR-CLIP	21572407
MIRT549562	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT549561	hsa-miR-2909	PAR-CLIP	21572407
MIRT525212	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT525211	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT525210	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT441072	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441072	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT549575	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT549574	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT549573	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT549572	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT549571	hsa-miR-9500	PAR-CLIP	21572407
MIRT117718	hsa-miR-1279	PAR-CLIP	21572407
MIRT549570	hsa-miR-187-5p	PAR-CLIP	21572407
MIRT549569	hsa-miR-548v	PAR-CLIP	21572407
MIRT549568	hsa-miR-221-3p	PAR-CLIP	21572407
MIRT549567	hsa-miR-222-3p	PAR-CLIP	21572407
MIRT549566	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT549565	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT549564	hsa-miR-6753-3p	PAR-CLIP	21572407
MIRT549563	hsa-miR-7107-3p	PAR-CLIP	21572407
MIRT549562	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT549561	hsa-miR-2909	PAR-CLIP	21572407
MIRT525212	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT525211	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT525210	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT837916	hsa-miR-1297	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT837919	hsa-miR-155	CLIP-seq
MIRT837920	hsa-miR-1587	CLIP-seq
MIRT837921	hsa-miR-15a	CLIP-seq
MIRT837922	hsa-miR-15b	CLIP-seq
MIRT837923	hsa-miR-16	CLIP-seq
MIRT837924	hsa-miR-181a	CLIP-seq
MIRT837925	hsa-miR-181b	CLIP-seq
MIRT837926	hsa-miR-181c	CLIP-seq
MIRT837927	hsa-miR-181d	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT837929	hsa-miR-195	CLIP-seq
MIRT837930	hsa-miR-2054	CLIP-seq
MIRT837931	hsa-miR-23a	CLIP-seq
MIRT837932	hsa-miR-23b	CLIP-seq
MIRT837933	hsa-miR-23c	CLIP-seq
MIRT837934	hsa-miR-25	CLIP-seq
MIRT837935	hsa-miR-26a	CLIP-seq
MIRT837936	hsa-miR-26b	CLIP-seq
MIRT837937	hsa-miR-30a	CLIP-seq
MIRT837938	hsa-miR-30b	CLIP-seq
MIRT837939	hsa-miR-30c	CLIP-seq
MIRT837940	hsa-miR-30d	CLIP-seq
MIRT837941	hsa-miR-30e	CLIP-seq
MIRT837942	hsa-miR-31	CLIP-seq
MIRT837943	hsa-miR-3119	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT837945	hsa-miR-3156-3p	CLIP-seq
MIRT837946	hsa-miR-32	CLIP-seq
MIRT837947	hsa-miR-330-3p	CLIP-seq
MIRT837948	hsa-miR-338-3p	CLIP-seq
MIRT837949	hsa-miR-338-5p	CLIP-seq
MIRT837950	hsa-miR-3591-5p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT837952	hsa-miR-363	CLIP-seq
MIRT837953	hsa-miR-367	CLIP-seq
MIRT837954	hsa-miR-3674	CLIP-seq
MIRT837955	hsa-miR-3681	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT837958	hsa-miR-369-3p	CLIP-seq
MIRT837959	hsa-miR-374a	CLIP-seq
MIRT837960	hsa-miR-374b	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT837963	hsa-miR-424	CLIP-seq
MIRT837964	hsa-miR-4262	CLIP-seq
MIRT837965	hsa-miR-4266	CLIP-seq
MIRT837966	hsa-miR-4269	CLIP-seq
MIRT837967	hsa-miR-4301	CLIP-seq
MIRT837968	hsa-miR-4325	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837971	hsa-miR-4460	CLIP-seq
MIRT837972	hsa-miR-4464	CLIP-seq
MIRT837973	hsa-miR-4465	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT837975	hsa-miR-4492	CLIP-seq
MIRT837976	hsa-miR-4498	CLIP-seq
MIRT837977	hsa-miR-4514	CLIP-seq
MIRT837978	hsa-miR-4524	CLIP-seq
MIRT837979	hsa-miR-4530	CLIP-seq
MIRT837980	hsa-miR-4642	CLIP-seq
MIRT837981	hsa-miR-4649-3p	CLIP-seq
MIRT837982	hsa-miR-4656	CLIP-seq
MIRT837983	hsa-miR-4666-3p	CLIP-seq
MIRT837984	hsa-miR-4675	CLIP-seq
MIRT837985	hsa-miR-4692	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT837987	hsa-miR-4711-5p	CLIP-seq
MIRT837988	hsa-miR-4720-5p	CLIP-seq
MIRT837989	hsa-miR-4722-5p	CLIP-seq
MIRT837990	hsa-miR-4727-3p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT837992	hsa-miR-4729	CLIP-seq
MIRT837993	hsa-miR-4741	CLIP-seq
MIRT837994	hsa-miR-4742-5p	CLIP-seq
MIRT837995	hsa-miR-4748	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT837997	hsa-miR-4768-3p	CLIP-seq
MIRT837998	hsa-miR-4779	CLIP-seq
MIRT837999	hsa-miR-4799-3p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838001	hsa-miR-493	CLIP-seq
MIRT838002	hsa-miR-497	CLIP-seq
MIRT838003	hsa-miR-503	CLIP-seq
MIRT838004	hsa-miR-532-3p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838006	hsa-miR-646	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT838010	hsa-miR-762	CLIP-seq
MIRT838011	hsa-miR-92a	CLIP-seq
MIRT838012	hsa-miR-92b	CLIP-seq
MIRT838013	hsa-miR-940	CLIP-seq
MIRT838014	hsa-miR-101	CLIP-seq
MIRT838015	hsa-miR-1205	CLIP-seq
MIRT838016	hsa-miR-125a-5p	CLIP-seq
MIRT838017	hsa-miR-125b	CLIP-seq
MIRT838018	hsa-miR-1269	CLIP-seq
MIRT838019	hsa-miR-1269b	CLIP-seq
MIRT838020	hsa-miR-1286	CLIP-seq
MIRT838021	hsa-miR-1288	CLIP-seq
MIRT838022	hsa-miR-1291	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT838023	hsa-miR-144	CLIP-seq
MIRT837919	hsa-miR-155	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT838024	hsa-miR-199a-3p	CLIP-seq
MIRT838025	hsa-miR-199b-3p	CLIP-seq
MIRT838026	hsa-miR-2278	CLIP-seq
MIRT837934	hsa-miR-25	CLIP-seq
MIRT837942	hsa-miR-31	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT838027	hsa-miR-3129-5p	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT837946	hsa-miR-32	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT837950	hsa-miR-3591-5p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT837952	hsa-miR-363	CLIP-seq
MIRT837953	hsa-miR-367	CLIP-seq
MIRT837955	hsa-miR-3681	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT838030	hsa-miR-4310	CLIP-seq
MIRT838031	hsa-miR-4319	CLIP-seq
MIRT838032	hsa-miR-4324	CLIP-seq
MIRT838033	hsa-miR-4327	CLIP-seq
MIRT838034	hsa-miR-4329	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837971	hsa-miR-4460	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT838036	hsa-miR-4515	CLIP-seq
MIRT837981	hsa-miR-4649-3p	CLIP-seq
MIRT838037	hsa-miR-4668-3p	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT838039	hsa-miR-4694-3p	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT838040	hsa-miR-4719	CLIP-seq
MIRT837989	hsa-miR-4722-5p	CLIP-seq
MIRT837990	hsa-miR-4727-3p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT838041	hsa-miR-4740-5p	CLIP-seq
MIRT837997	hsa-miR-4768-3p	CLIP-seq
MIRT838042	hsa-miR-4786-5p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838043	hsa-miR-492	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT838045	hsa-miR-582-5p	CLIP-seq
MIRT838046	hsa-miR-592	CLIP-seq
MIRT838047	hsa-miR-597	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT838048	hsa-miR-769-5p	CLIP-seq
MIRT838011	hsa-miR-92a	CLIP-seq
MIRT838012	hsa-miR-92b	CLIP-seq
MIRT838013	hsa-miR-940	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT1948305	hsa-miR-1228	CLIP-seq
MIRT1948306	hsa-miR-128	CLIP-seq
MIRT1948307	hsa-miR-1324	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT1948308	hsa-miR-205	CLIP-seq
MIRT1948309	hsa-miR-27a	CLIP-seq
MIRT1948310	hsa-miR-27b	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT1948312	hsa-miR-3160-3p	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT1948313	hsa-miR-337-3p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT1948314	hsa-miR-3671	CLIP-seq
MIRT1948315	hsa-miR-3685	CLIP-seq
MIRT1948316	hsa-miR-377	CLIP-seq
MIRT1948317	hsa-miR-384	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT1948319	hsa-miR-3945	CLIP-seq
MIRT1948320	hsa-miR-4253	CLIP-seq
MIRT1948321	hsa-miR-4291	CLIP-seq
MIRT1948322	hsa-miR-4292	CLIP-seq
MIRT1948323	hsa-miR-4308	CLIP-seq
MIRT838030	hsa-miR-4310	CLIP-seq
MIRT838033	hsa-miR-4327	CLIP-seq
MIRT1948324	hsa-miR-4328	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT1948325	hsa-miR-4423-3p	CLIP-seq
MIRT1948326	hsa-miR-4446-5p	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837972	hsa-miR-4464	CLIP-seq
MIRT1948327	hsa-miR-4474-3p	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT1948328	hsa-miR-4491	CLIP-seq
MIRT1948329	hsa-miR-4657	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT1948330	hsa-miR-4717-3p	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837995	hsa-miR-4748	CLIP-seq
MIRT1948332	hsa-miR-4755-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT1948333	hsa-miR-4788	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT1948334	hsa-miR-491-3p	CLIP-seq
MIRT1948335	hsa-miR-5096	CLIP-seq
MIRT1948336	hsa-miR-512-5p	CLIP-seq
MIRT1948337	hsa-miR-513a-5p	CLIP-seq
MIRT1948338	hsa-miR-520d-5p	CLIP-seq
MIRT1948339	hsa-miR-524-5p	CLIP-seq
MIRT1948340	hsa-miR-548ac	CLIP-seq
MIRT1948341	hsa-miR-548ae	CLIP-seq
MIRT1948342	hsa-miR-548aj	CLIP-seq
MIRT1948343	hsa-miR-548am	CLIP-seq
MIRT1948344	hsa-miR-548d-3p	CLIP-seq
MIRT1948345	hsa-miR-548x	CLIP-seq
MIRT1948346	hsa-miR-548z	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT1948347	hsa-miR-656	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT1948349	hsa-miR-875-5p	CLIP-seq
MIRT1948350	hsa-miR-885-5p	CLIP-seq
MIRT1948351	hsa-miR-935	CLIP-seq
MIRT1948352	hsa-miR-943	CLIP-seq
MIRT838014	hsa-miR-101	CLIP-seq
MIRT1948305	hsa-miR-1228	CLIP-seq
MIRT2186329	hsa-miR-1253	CLIP-seq
MIRT2186330	hsa-miR-1271	CLIP-seq
MIRT2186331	hsa-miR-1273	CLIP-seq
MIRT1948306	hsa-miR-128	CLIP-seq
MIRT837916	hsa-miR-1297	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT2186332	hsa-miR-140-3p	CLIP-seq
MIRT837924	hsa-miR-181a	CLIP-seq
MIRT837925	hsa-miR-181b	CLIP-seq
MIRT837926	hsa-miR-181c	CLIP-seq
MIRT837927	hsa-miR-181d	CLIP-seq
MIRT2186333	hsa-miR-182	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT837930	hsa-miR-2054	CLIP-seq
MIRT2186334	hsa-miR-2114	CLIP-seq
MIRT2186335	hsa-miR-217	CLIP-seq
MIRT837931	hsa-miR-23a	CLIP-seq
MIRT837932	hsa-miR-23b	CLIP-seq
MIRT837933	hsa-miR-23c	CLIP-seq
MIRT2186336	hsa-miR-24	CLIP-seq
MIRT837935	hsa-miR-26a	CLIP-seq
MIRT837936	hsa-miR-26b	CLIP-seq
MIRT2186337	hsa-miR-28-5p	CLIP-seq
MIRT837937	hsa-miR-30a	CLIP-seq
MIRT837938	hsa-miR-30b	CLIP-seq
MIRT837939	hsa-miR-30c	CLIP-seq
MIRT837940	hsa-miR-30d	CLIP-seq
MIRT837941	hsa-miR-30e	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT2186338	hsa-miR-3132	CLIP-seq
MIRT2186339	hsa-miR-3139	CLIP-seq
MIRT1948312	hsa-miR-3160-3p	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT2186340	hsa-miR-3191	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT2186341	hsa-miR-3622a-3p	CLIP-seq
MIRT2186342	hsa-miR-3622b-3p	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT1948316	hsa-miR-377	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT2186345	hsa-miR-3940-3p	CLIP-seq
MIRT2186346	hsa-miR-4251	CLIP-seq
MIRT837964	hsa-miR-4262	CLIP-seq
MIRT837965	hsa-miR-4266	CLIP-seq
MIRT837966	hsa-miR-4269	CLIP-seq
MIRT2186347	hsa-miR-4284	CLIP-seq
MIRT1948322	hsa-miR-4292	CLIP-seq
MIRT1948323	hsa-miR-4308	CLIP-seq
MIRT837968	hsa-miR-4325	CLIP-seq
MIRT2186348	hsa-miR-4418	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT2186349	hsa-miR-4438	CLIP-seq
MIRT2186350	hsa-miR-4446-3p	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837973	hsa-miR-4465	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT837977	hsa-miR-4514	CLIP-seq
MIRT2186351	hsa-miR-4633-5p	CLIP-seq
MIRT837980	hsa-miR-4642	CLIP-seq
MIRT837981	hsa-miR-4649-3p	CLIP-seq
MIRT837985	hsa-miR-4692	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT837987	hsa-miR-4711-5p	CLIP-seq
MIRT2186352	hsa-miR-4721	CLIP-seq
MIRT837989	hsa-miR-4722-5p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT837992	hsa-miR-4729	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837994	hsa-miR-4742-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT837997	hsa-miR-4768-3p	CLIP-seq
MIRT2186353	hsa-miR-4777-3p	CLIP-seq
MIRT837998	hsa-miR-4779	CLIP-seq
MIRT2186354	hsa-miR-4793-3p	CLIP-seq
MIRT2186355	hsa-miR-4797-3p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT1948334	hsa-miR-491-3p	CLIP-seq
MIRT838003	hsa-miR-503	CLIP-seq
MIRT2186356	hsa-miR-508-5p	CLIP-seq
MIRT2186357	hsa-miR-509-3-5p	CLIP-seq
MIRT2186358	hsa-miR-5095	CLIP-seq
MIRT2186359	hsa-miR-509-5p	CLIP-seq
MIRT2186360	hsa-miR-532-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT2186361	hsa-miR-570	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948347	hsa-miR-656	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT2186364	hsa-miR-708	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT2186365	hsa-miR-767-5p	CLIP-seq
MIRT1948349	hsa-miR-875-5p	CLIP-seq
MIRT1948350	hsa-miR-885-5p	CLIP-seq
MIRT838013	hsa-miR-940	CLIP-seq
MIRT2186366	hsa-miR-96	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT1948313	hsa-miR-337-3p	CLIP-seq
MIRT1948314	hsa-miR-3671	CLIP-seq
MIRT1948315	hsa-miR-3685	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT1948317	hsa-miR-384	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT2445260	hsa-miR-3646	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2445261	hsa-miR-3919	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT2445262	hsa-miR-3942-3p	CLIP-seq
MIRT1948324	hsa-miR-4328	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT2445263	hsa-miR-4756-3p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2490481	hsa-miR-1178	CLIP-seq
MIRT2186329	hsa-miR-1253	CLIP-seq
MIRT2490482	hsa-miR-1270	CLIP-seq
MIRT2490483	hsa-miR-1915	CLIP-seq
MIRT2490484	hsa-miR-2355-5p	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT2490485	hsa-miR-3144-3p	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT837949	hsa-miR-338-5p	CLIP-seq
MIRT2490486	hsa-miR-3613-3p	CLIP-seq
MIRT2490487	hsa-miR-3672	CLIP-seq
MIRT2490488	hsa-miR-3682-3p	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT2490489	hsa-miR-371-5p	CLIP-seq
MIRT2490490	hsa-miR-371b-5p	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT2490491	hsa-miR-378g	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT2490492	hsa-miR-4461	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT1948328	hsa-miR-4491	CLIP-seq
MIRT2490493	hsa-miR-4502	CLIP-seq
MIRT2490494	hsa-miR-4511	CLIP-seq
MIRT2490495	hsa-miR-4652-3p	CLIP-seq
MIRT1948329	hsa-miR-4657	CLIP-seq
MIRT2490496	hsa-miR-4683	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT838042	hsa-miR-4786-5p	CLIP-seq
MIRT2490497	hsa-miR-4793-5p	CLIP-seq
MIRT2490498	hsa-miR-4794	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT2490499	hsa-miR-486-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT2490500	hsa-miR-579	CLIP-seq
MIRT2490501	hsa-miR-580	CLIP-seq
MIRT838046	hsa-miR-592	CLIP-seq
MIRT838047	hsa-miR-597	CLIP-seq
MIRT2490502	hsa-miR-620	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT2186365	hsa-miR-767-5p	CLIP-seq
MIRT838048	hsa-miR-769-5p	CLIP-seq
MIRT1948349	hsa-miR-875-5p	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT2490486	hsa-miR-3613-3p	CLIP-seq
MIRT2490488	hsa-miR-3682-3p	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT2490489	hsa-miR-371-5p	CLIP-seq
MIRT2490490	hsa-miR-371b-5p	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT2490493	hsa-miR-4502	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT838042	hsa-miR-4786-5p	CLIP-seq
MIRT2490497	hsa-miR-4793-5p	CLIP-seq
MIRT2490498	hsa-miR-4794	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT838048	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	23857908, 26136767
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	23857908, 26136767
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006914	Process	Autophagy	IMP	26136767
GO:0006915	Process	Apoptotic process	IMP	26136767
GO:0006979	Process	Response to oxidative stress	IMP	26136767
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	26136767
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	26136767

Other IDs

• MIM: 614297
• HGNC: 25443
• e!Ensembl: ENSG00000131943

Protein

• UniProt ID: Q9NSK7
• Protein name: Protein C19orf12
• Sequence:

  MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPP
  GLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTA
  LVMGSEALQQQLLAMLVNYVTKELRAEIQYDD

• Sequence length: 152

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
Abnormal central motor function	Likely pathogenic; Pathogenic	rs1568326754	RCV001814233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of iron homeostasis	Likely pathogenic; Pathogenic	rs397514477	RCV001004003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult-onset night blindness	Likely pathogenic; Pathogenic	rs515726205	RCV000414809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C19orf12-related disorder	Pathogenic; Likely pathogenic	rs2513280986, rs515726204	RCV003984359 RCV003904862	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Likely pathogenic; Pathogenic	rs515726205	RCV000414809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs752450983	RCV000454138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs398122409	RCV001848364	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 43	Likely pathogenic; Pathogenic	rs2145639419, rs398122409, rs2513300586, rs515726204, rs397514477, rs515726205, rs752450983, rs1568326754	RCV001806376 RCV002236027 RCV003340872 RCV001044832 RCV003743545 RCV000528859 RCV000821485 RCV005409735 RCV005016359	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs752450983	RCV000454138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental deterioration	Likely pathogenic; Pathogenic	rs515726205	RCV000414809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation	Pathogenic; Likely pathogenic	rs2513280986, rs515726204, rs397514477, rs515726205, rs752450983, rs398122409	RCV003324412 RCV003155040 RCV004700277 RCV003230372 RCV002271579 RCV002265593	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration with brain iron accumulation 4	Pathogenic; Likely pathogenic	rs2145623001, rs398122409, rs797045423, rs201987973, rs752450983, rs515726204, rs397514477, rs515726205, rs387907173, rs1064797235, rs1424291552, rs1568326754, rs1599534276, rs1599534394, rs1972184295	RCV001548764 RCV004770223 RCV000194885 RCV000211114 RCV001095481 RCV000024151 RCV000024152 RCV000024153 RCV000024323 RCV000502393 RCV000754614 RCV000754615 RCV000784918 RCV000788048 RCV000788049 RCV000074455 RCV001261521	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurofibromatosis, type 1	Likely pathogenic; Pathogenic	rs398122409	RCV004562242	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral visual field loss	Likely pathogenic; Pathogenic	rs515726205	RCV000414809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs2145621443	RCV001647155	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tremor	Likely pathogenic; Pathogenic	rs515726205	RCV000414809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERVORDEN-SPATZ SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 5A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron accumulation in brain	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT URINARY SYSTEM NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegeneration	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult-onset night blindness	Night Blindness	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22584950, 28365006, 30553531		★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	BEFREE	28641177		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	26714052		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 43	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behr syndrome	Abortive cerebellar ataxia	BEFREE	26187298		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22433433	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	24361204	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23269600, 31804703		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29124790		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35041927	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25592411		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	21981780, 26602591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune system disease	Pubtator	35509008	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23269600		★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	23212724		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	35182730	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22584950		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	23269600	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	21397856		★☆☆☆☆ Found in Text Mining only
Mitochondrial membrane protein-associated neurodegeneration	Mitochondrial Membrane Protein-Associated Neurodegeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	22584950		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	27671242		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	21981780, 22584950, 22704260, 23166001, 23269600, 23278385, 23436634, 23857908, 24142851, 24209434, 25592411, 25744623, 25870938, 25962551, 26187298, 26602591, 27671242, 27772766, 28347614, 28347615, 28365006, 30553531, 31804703		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	Neurodegeneration With Brain Iron Accumulation	GENOMICS_ENGLAND_DG	20039086, 22584950, 23278385, 23857908, 26187298, 26539891, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	Neurodegeneration With Brain Iron Accumulation	UNIPROT_DG	21981780, 22508347, 22584950, 22704260, 23269600, 23278385, 23521069, 23857908, 25592411, 26136767, 26187298		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	Neurodegeneration With Brain Iron Accumulation	ORPHANET_DG	21981780		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	Neurodegeneration With Brain Iron Accumulation	CLINVAR_DG	21981780, 22584950, 23166001, 23269600, 23278385, 23436634, 23494994, 23857908, 24209434, 25592411, 28347615		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	Neurodegeneration With Brain Iron Accumulation	BEFREE	27801611, 31087512, 31518459		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	Neurodegeneration With Brain Iron Accumulation	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23269600, 23857908, 33068888, 34022688	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	34022688	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	21397856		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21981780	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28365006, 29124790		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)	Parkinson disease	BEFREE	24361204		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28365006		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28365006, 29124790		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	34022688	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	23269600, 31804703		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	35182730	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	20039086, 22584950, 23857908, 26187298, 26539891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	21981780, 23269600, 23494994, 23857908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	23857908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	23857908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	23857908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	23857908	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	31804703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	35509008	Associate	★☆☆☆☆ Found in Text Mining only
Woodhouse Sakati syndrome	Woodhouse Sakati Syndrome	BEFREE	27487380		★☆☆☆☆ Found in Text Mining only