VPS13D (vacuolar protein sorting 13 homolog D)

Gene

• Entrez ID: 55187
• Gene name: Vacuolar protein sorting 13 homolog D
• Gene symbol: VPS13D
• Synonyms (NCBI Gene): BLTP5D, SCA24, SCAR4, SCASI
• Chromosome: 1
• Chromosome location: 1p36.22-p36.21
• Summary: This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While se

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs746736545	C>T	Pathogenic	Coding sequence variant, missense variant
rs756025227	C>A,G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs779850187	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1557478316	G>A	Pathogenic	Coding sequence variant, missense variant
rs1557680710	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557680919	G>A	Pathogenic	Coding sequence variant, missense variant
rs1557684974	C>A	Pathogenic	Stop gained, coding sequence variant
rs1557705968	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557737087	A>G	Pathogenic	Coding sequence variant, missense variant
rs1569704391	C>T	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021825	hsa-miR-132-3p	Microarray	17612493
MIRT022025	hsa-miR-128-3p	Microarray	17612493
MIRT025941	hsa-miR-7-5p	Microarray	19073608
MIRT051432	hsa-let-7e-5p	CLASH	23622248
MIRT038671	hsa-miR-10a-3p	CLASH	23622248
MIRT038209	hsa-miR-342-5p	CLASH	23622248
MIRT633599	hsa-miR-8485	HITS-CLIP	23313552
MIRT651703	hsa-miR-320a	HITS-CLIP	23824327
MIRT651702	hsa-miR-320b	HITS-CLIP	23824327
MIRT651701	hsa-miR-320c	HITS-CLIP	23824327
MIRT651700	hsa-miR-320d	HITS-CLIP	23824327
MIRT651699	hsa-miR-4429	HITS-CLIP	23824327
MIRT651698	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651697	hsa-miR-3183	HITS-CLIP	23824327
MIRT651696	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT651694	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT651695	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT651693	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT651692	hsa-miR-4287	HITS-CLIP	23824327
MIRT651691	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651690	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT651689	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT651688	hsa-miR-20a-3p	HITS-CLIP	23824327
MIRT651687	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT651686	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT651685	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT651684	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT651683	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT651682	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT633599	hsa-miR-8485	HITS-CLIP	23824327
MIRT633599	hsa-miR-8485	HITS-CLIP	27418678
MIRT633599	hsa-miR-8485	HITS-CLIP	27418678
MIRT633599	hsa-miR-8485	HITS-CLIP	23313552
MIRT651703	hsa-miR-320a	HITS-CLIP	23824327
MIRT651702	hsa-miR-320b	HITS-CLIP	23824327
MIRT651701	hsa-miR-320c	HITS-CLIP	23824327
MIRT651700	hsa-miR-320d	HITS-CLIP	23824327
MIRT651699	hsa-miR-4429	HITS-CLIP	23824327
MIRT651698	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651697	hsa-miR-3183	HITS-CLIP	23824327
MIRT651696	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT651694	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT651695	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT651693	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT651692	hsa-miR-4287	HITS-CLIP	23824327
MIRT651691	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651690	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT651689	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT651688	hsa-miR-20a-3p	HITS-CLIP	23824327
MIRT651687	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT651686	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT651685	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT651684	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT651683	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT651682	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT633599	hsa-miR-8485	HITS-CLIP	23824327
MIRT1486009	hsa-miR-1224-3p	CLIP-seq
MIRT1486010	hsa-miR-1260	CLIP-seq
MIRT1486011	hsa-miR-1260b	CLIP-seq
MIRT1486012	hsa-miR-1280	CLIP-seq
MIRT1486013	hsa-miR-1291	CLIP-seq
MIRT1486014	hsa-miR-130a	CLIP-seq
MIRT1486015	hsa-miR-130b	CLIP-seq
MIRT1486016	hsa-miR-1343	CLIP-seq
MIRT1486017	hsa-miR-146a	CLIP-seq
MIRT1486018	hsa-miR-146b-5p	CLIP-seq
MIRT1486019	hsa-miR-150	CLIP-seq
MIRT1486020	hsa-miR-301a	CLIP-seq
MIRT1486021	hsa-miR-301b	CLIP-seq
MIRT1486022	hsa-miR-3064-5p	CLIP-seq
MIRT1486023	hsa-miR-3074-3p	CLIP-seq
MIRT1486024	hsa-miR-3074-5p	CLIP-seq
MIRT1486025	hsa-miR-323b-3p	CLIP-seq
MIRT1486026	hsa-miR-328	CLIP-seq
MIRT1486027	hsa-miR-3666	CLIP-seq
MIRT1486028	hsa-miR-4264	CLIP-seq
MIRT1486029	hsa-miR-4290	CLIP-seq
MIRT1486030	hsa-miR-4295	CLIP-seq
MIRT1486031	hsa-miR-4299	CLIP-seq
MIRT1486032	hsa-miR-4307	CLIP-seq
MIRT1486033	hsa-miR-4328	CLIP-seq
MIRT1486034	hsa-miR-4427	CLIP-seq
MIRT1486035	hsa-miR-4459	CLIP-seq
MIRT1486036	hsa-miR-4473	CLIP-seq
MIRT1486037	hsa-miR-454	CLIP-seq
MIRT1486038	hsa-miR-4671-3p	CLIP-seq
MIRT1486039	hsa-miR-4704-3p	CLIP-seq
MIRT1486040	hsa-miR-4710	CLIP-seq
MIRT1486041	hsa-miR-4713-5p	CLIP-seq
MIRT1486042	hsa-miR-4715-5p	CLIP-seq
MIRT1486043	hsa-miR-4779	CLIP-seq
MIRT1486044	hsa-miR-4792	CLIP-seq
MIRT1486045	hsa-miR-495	CLIP-seq
MIRT1486046	hsa-miR-520d-5p	CLIP-seq
MIRT1486047	hsa-miR-524-5p	CLIP-seq
MIRT1486048	hsa-miR-532-3p	CLIP-seq
MIRT1486049	hsa-miR-582-5p	CLIP-seq
MIRT1486050	hsa-miR-589	CLIP-seq
MIRT1486051	hsa-miR-665	CLIP-seq
MIRT1486052	hsa-miR-1256	CLIP-seq
MIRT1486053	hsa-miR-1264	CLIP-seq
MIRT1486016	hsa-miR-1343	CLIP-seq
MIRT1486017	hsa-miR-146a	CLIP-seq
MIRT1486018	hsa-miR-146b-5p	CLIP-seq
MIRT1486054	hsa-miR-1825	CLIP-seq
MIRT1486024	hsa-miR-3074-5p	CLIP-seq
MIRT1486055	hsa-miR-3130-5p	CLIP-seq
MIRT1486056	hsa-miR-371-3p	CLIP-seq
MIRT1486031	hsa-miR-4299	CLIP-seq
MIRT1486032	hsa-miR-4307	CLIP-seq
MIRT1486057	hsa-miR-4423-3p	CLIP-seq
MIRT1486035	hsa-miR-4459	CLIP-seq
MIRT1486058	hsa-miR-4482	CLIP-seq
MIRT1486040	hsa-miR-4710	CLIP-seq
MIRT1486043	hsa-miR-4779	CLIP-seq
MIRT1486044	hsa-miR-4792	CLIP-seq
MIRT1486045	hsa-miR-495	CLIP-seq
MIRT1486059	hsa-miR-548a-3p	CLIP-seq
MIRT1486060	hsa-miR-548e	CLIP-seq
MIRT1486061	hsa-miR-548f	CLIP-seq
MIRT1486050	hsa-miR-589	CLIP-seq
MIRT1486051	hsa-miR-665	CLIP-seq
MIRT2146091	hsa-miR-1185	CLIP-seq
MIRT2146092	hsa-miR-18a	CLIP-seq
MIRT2146093	hsa-miR-18b	CLIP-seq
MIRT2146094	hsa-miR-19a	CLIP-seq
MIRT2146095	hsa-miR-19b	CLIP-seq
MIRT2146096	hsa-miR-200b	CLIP-seq
MIRT2146097	hsa-miR-200c	CLIP-seq
MIRT1486022	hsa-miR-3064-5p	CLIP-seq
MIRT1486023	hsa-miR-3074-3p	CLIP-seq
MIRT2146098	hsa-miR-3170	CLIP-seq
MIRT2146099	hsa-miR-3605-5p	CLIP-seq
MIRT2146100	hsa-miR-3679-5p	CLIP-seq
MIRT2146101	hsa-miR-374c	CLIP-seq
MIRT2146102	hsa-miR-429	CLIP-seq
MIRT2146103	hsa-miR-4311	CLIP-seq
MIRT1486033	hsa-miR-4328	CLIP-seq
MIRT1486034	hsa-miR-4427	CLIP-seq
MIRT2146104	hsa-miR-4474-5p	CLIP-seq
MIRT2146105	hsa-miR-4646-5p	CLIP-seq
MIRT2146106	hsa-miR-4691-5p	CLIP-seq
MIRT2146107	hsa-miR-4699-3p	CLIP-seq
MIRT2146108	hsa-miR-4735-3p	CLIP-seq
MIRT2146109	hsa-miR-4782-5p	CLIP-seq
MIRT2146110	hsa-miR-4793-5p	CLIP-seq
MIRT1486046	hsa-miR-520d-5p	CLIP-seq
MIRT1486047	hsa-miR-524-5p	CLIP-seq
MIRT2146111	hsa-miR-587	CLIP-seq
MIRT2146112	hsa-miR-655	CLIP-seq
MIRT2146092	hsa-miR-18a	CLIP-seq
MIRT2146093	hsa-miR-18b	CLIP-seq
MIRT2146094	hsa-miR-19a	CLIP-seq
MIRT2146095	hsa-miR-19b	CLIP-seq
MIRT2366616	hsa-miR-2355-5p	CLIP-seq
MIRT1486028	hsa-miR-4264	CLIP-seq
MIRT1486032	hsa-miR-4307	CLIP-seq
MIRT2366617	hsa-miR-4666-3p	CLIP-seq
MIRT2366618	hsa-miR-4666-5p	CLIP-seq
MIRT2366619	hsa-miR-4719	CLIP-seq
MIRT2366620	hsa-miR-4727-5p	CLIP-seq
MIRT2146108	hsa-miR-4735-3p	CLIP-seq
MIRT2366621	hsa-miR-4764-3p	CLIP-seq
MIRT2366622	hsa-miR-4797-3p	CLIP-seq
MIRT2366623	hsa-miR-549	CLIP-seq
MIRT2366624	hsa-miR-671-3p	CLIP-seq
MIRT2396840	hsa-miR-1205	CLIP-seq
MIRT2396841	hsa-miR-1207-5p	CLIP-seq
MIRT2396842	hsa-miR-1909	CLIP-seq
MIRT2396843	hsa-miR-3175	CLIP-seq
MIRT2396844	hsa-miR-4436b-3p	CLIP-seq
MIRT2396845	hsa-miR-4446-3p	CLIP-seq
MIRT2396846	hsa-miR-4685-5p	CLIP-seq
MIRT2396847	hsa-miR-4763-3p	CLIP-seq
MIRT2366623	hsa-miR-549	CLIP-seq
MIRT2366616	hsa-miR-2355-5p	CLIP-seq
MIRT2366620	hsa-miR-4727-5p	CLIP-seq
MIRT2366623	hsa-miR-549	CLIP-seq
MIRT2366624	hsa-miR-671-3p	CLIP-seq
MIRT2660054	hsa-miR-1207-3p	CLIP-seq
MIRT2660055	hsa-miR-1238	CLIP-seq
MIRT2660056	hsa-miR-1258	CLIP-seq
MIRT2660057	hsa-miR-1261	CLIP-seq
MIRT2660058	hsa-miR-1321	CLIP-seq
MIRT2660059	hsa-miR-1323	CLIP-seq
MIRT2660060	hsa-miR-140-3p	CLIP-seq
MIRT1486019	hsa-miR-150	CLIP-seq
MIRT2660061	hsa-miR-193a-5p	CLIP-seq
MIRT2660062	hsa-miR-204	CLIP-seq
MIRT2660063	hsa-miR-208a	CLIP-seq
MIRT2660064	hsa-miR-208b	CLIP-seq
MIRT2660065	hsa-miR-211	CLIP-seq
MIRT2660066	hsa-miR-22	CLIP-seq
MIRT2366616	hsa-miR-2355-5p	CLIP-seq
MIRT2660067	hsa-miR-2467-3p	CLIP-seq
MIRT2660068	hsa-miR-28-5p	CLIP-seq
MIRT2660069	hsa-miR-2861	CLIP-seq
MIRT2660070	hsa-miR-3124-3p	CLIP-seq
MIRT2660071	hsa-miR-3125	CLIP-seq
MIRT2660072	hsa-miR-3132	CLIP-seq
MIRT2660073	hsa-miR-3139	CLIP-seq
MIRT2660074	hsa-miR-3143	CLIP-seq
MIRT2660075	hsa-miR-3148	CLIP-seq
MIRT2660076	hsa-miR-3150b-3p	CLIP-seq
MIRT2660077	hsa-miR-3151	CLIP-seq
MIRT2660078	hsa-miR-3158-5p	CLIP-seq
MIRT2660079	hsa-miR-3173-3p	CLIP-seq
MIRT2660080	hsa-miR-3185	CLIP-seq
MIRT2660081	hsa-miR-3186-5p	CLIP-seq
MIRT2660082	hsa-miR-3199	CLIP-seq
MIRT2660083	hsa-miR-3201	CLIP-seq
MIRT2660084	hsa-miR-3202	CLIP-seq
MIRT2660085	hsa-miR-339-3p	CLIP-seq
MIRT2660086	hsa-miR-3653	CLIP-seq
MIRT2660087	hsa-miR-3658	CLIP-seq
MIRT2660088	hsa-miR-3662	CLIP-seq
MIRT2660089	hsa-miR-3678-3p	CLIP-seq
MIRT2660090	hsa-miR-3679-3p	CLIP-seq
MIRT2660091	hsa-miR-3916	CLIP-seq
MIRT2660092	hsa-miR-3929	CLIP-seq
MIRT2660093	hsa-miR-4271	CLIP-seq
MIRT2660094	hsa-miR-431	CLIP-seq
MIRT2660095	hsa-miR-432	CLIP-seq
MIRT2660096	hsa-miR-4417	CLIP-seq
MIRT2660097	hsa-miR-4419a	CLIP-seq
MIRT2660098	hsa-miR-4419b	CLIP-seq
MIRT2660099	hsa-miR-4424	CLIP-seq
MIRT2660100	hsa-miR-4432	CLIP-seq
MIRT2660101	hsa-miR-4436a	CLIP-seq
MIRT2660102	hsa-miR-4437	CLIP-seq
MIRT2660103	hsa-miR-4447	CLIP-seq
MIRT2660104	hsa-miR-4456	CLIP-seq
MIRT2660105	hsa-miR-4462	CLIP-seq
MIRT2660106	hsa-miR-4472	CLIP-seq
MIRT2146104	hsa-miR-4474-5p	CLIP-seq
MIRT2660107	hsa-miR-4475	CLIP-seq
MIRT2660108	hsa-miR-4478	CLIP-seq
MIRT2660109	hsa-miR-4484	CLIP-seq
MIRT2660110	hsa-miR-4487	CLIP-seq
MIRT2660111	hsa-miR-4496	CLIP-seq
MIRT2660112	hsa-miR-4510	CLIP-seq
MIRT2660113	hsa-miR-4515	CLIP-seq
MIRT2660114	hsa-miR-4527	CLIP-seq
MIRT2660115	hsa-miR-4533	CLIP-seq
MIRT2660116	hsa-miR-4536	CLIP-seq
MIRT2146105	hsa-miR-4646-5p	CLIP-seq
MIRT2660117	hsa-miR-4664-5p	CLIP-seq
MIRT2366617	hsa-miR-4666-3p	CLIP-seq
MIRT2660118	hsa-miR-4674	CLIP-seq
MIRT2660119	hsa-miR-4687-5p	CLIP-seq
MIRT2660120	hsa-miR-4689	CLIP-seq
MIRT2146106	hsa-miR-4691-5p	CLIP-seq
MIRT2660121	hsa-miR-4694-3p	CLIP-seq
MIRT2146107	hsa-miR-4699-3p	CLIP-seq
MIRT2660122	hsa-miR-4699-5p	CLIP-seq
MIRT2660123	hsa-miR-4708-3p	CLIP-seq
MIRT2660124	hsa-miR-4711-3p	CLIP-seq
MIRT2660125	hsa-miR-4725-3p	CLIP-seq
MIRT2366620	hsa-miR-4727-5p	CLIP-seq
MIRT2660126	hsa-miR-4728-5p	CLIP-seq
MIRT2660127	hsa-miR-4729	CLIP-seq
MIRT2660128	hsa-miR-4731-5p	CLIP-seq
MIRT2660129	hsa-miR-4739	CLIP-seq
MIRT2660130	hsa-miR-4756-5p	CLIP-seq
MIRT2660131	hsa-miR-4757-5p	CLIP-seq
MIRT1486043	hsa-miR-4779	CLIP-seq
MIRT2660132	hsa-miR-4784	CLIP-seq
MIRT2660133	hsa-miR-4791	CLIP-seq
MIRT2660134	hsa-miR-4795-5p	CLIP-seq
MIRT2660135	hsa-miR-4796-3p	CLIP-seq
MIRT2660136	hsa-miR-485-5p	CLIP-seq
MIRT2660137	hsa-miR-491-5p	CLIP-seq
MIRT2660138	hsa-miR-499-3p	CLIP-seq
MIRT2660139	hsa-miR-499-5p	CLIP-seq
MIRT2660140	hsa-miR-499a-3p	CLIP-seq
MIRT2660141	hsa-miR-515-5p	CLIP-seq
MIRT2660142	hsa-miR-539	CLIP-seq
MIRT2660143	hsa-miR-541	CLIP-seq
MIRT2660144	hsa-miR-543	CLIP-seq
MIRT2660145	hsa-miR-548aa	CLIP-seq
MIRT2660146	hsa-miR-548ac	CLIP-seq
MIRT2660147	hsa-miR-548d-3p	CLIP-seq
MIRT2660148	hsa-miR-548n	CLIP-seq
MIRT2660149	hsa-miR-548o	CLIP-seq
MIRT2660150	hsa-miR-548t	CLIP-seq
MIRT2660151	hsa-miR-548z	CLIP-seq
MIRT2366623	hsa-miR-549	CLIP-seq
MIRT2660152	hsa-miR-558	CLIP-seq
MIRT2660153	hsa-miR-579	CLIP-seq
MIRT2660154	hsa-miR-592	CLIP-seq
MIRT2660155	hsa-miR-599	CLIP-seq
MIRT2660156	hsa-miR-602	CLIP-seq
MIRT2660157	hsa-miR-649	CLIP-seq
MIRT2660158	hsa-miR-654-5p	CLIP-seq
MIRT2366624	hsa-miR-671-3p	CLIP-seq
MIRT2660159	hsa-miR-708	CLIP-seq
MIRT2660054	hsa-miR-1207-3p	CLIP-seq
MIRT2660055	hsa-miR-1238	CLIP-seq
MIRT2660056	hsa-miR-1258	CLIP-seq
MIRT2660057	hsa-miR-1261	CLIP-seq
MIRT2695050	hsa-miR-1266	CLIP-seq
MIRT2660058	hsa-miR-1321	CLIP-seq
MIRT2660059	hsa-miR-1323	CLIP-seq
MIRT2660060	hsa-miR-140-3p	CLIP-seq
MIRT1486019	hsa-miR-150	CLIP-seq
MIRT2695051	hsa-miR-154	CLIP-seq
MIRT2660061	hsa-miR-193a-5p	CLIP-seq
MIRT2660062	hsa-miR-204	CLIP-seq
MIRT2660063	hsa-miR-208a	CLIP-seq
MIRT2660064	hsa-miR-208b	CLIP-seq
MIRT2660065	hsa-miR-211	CLIP-seq
MIRT2366616	hsa-miR-2355-5p	CLIP-seq
MIRT2695052	hsa-miR-2682	CLIP-seq
MIRT2660069	hsa-miR-2861	CLIP-seq
MIRT2660070	hsa-miR-3124-3p	CLIP-seq
MIRT2660071	hsa-miR-3125	CLIP-seq
MIRT2660072	hsa-miR-3132	CLIP-seq
MIRT2660074	hsa-miR-3143	CLIP-seq
MIRT2660075	hsa-miR-3148	CLIP-seq
MIRT2660080	hsa-miR-3185	CLIP-seq
MIRT2660081	hsa-miR-3186-5p	CLIP-seq
MIRT2660082	hsa-miR-3199	CLIP-seq
MIRT2660083	hsa-miR-3201	CLIP-seq
MIRT2660086	hsa-miR-3653	CLIP-seq
MIRT2660087	hsa-miR-3658	CLIP-seq
MIRT2660088	hsa-miR-3662	CLIP-seq
MIRT2695053	hsa-miR-3664-3p	CLIP-seq
MIRT2660090	hsa-miR-3679-3p	CLIP-seq
MIRT2660091	hsa-miR-3916	CLIP-seq
MIRT2695054	hsa-miR-4269	CLIP-seq
MIRT2660093	hsa-miR-4271	CLIP-seq
MIRT2695055	hsa-miR-433	CLIP-seq
MIRT2660096	hsa-miR-4417	CLIP-seq
MIRT2660100	hsa-miR-4432	CLIP-seq
MIRT2660101	hsa-miR-4436a	CLIP-seq
MIRT2660102	hsa-miR-4437	CLIP-seq
MIRT2660104	hsa-miR-4456	CLIP-seq
MIRT2660105	hsa-miR-4462	CLIP-seq
MIRT2146104	hsa-miR-4474-5p	CLIP-seq
MIRT2660107	hsa-miR-4475	CLIP-seq
MIRT2660109	hsa-miR-4484	CLIP-seq
MIRT2660110	hsa-miR-4487	CLIP-seq
MIRT2660111	hsa-miR-4496	CLIP-seq
MIRT2695056	hsa-miR-449c	CLIP-seq
MIRT2695057	hsa-miR-4514	CLIP-seq
MIRT2660113	hsa-miR-4515	CLIP-seq
MIRT2695058	hsa-miR-4518	CLIP-seq
MIRT2660114	hsa-miR-4527	CLIP-seq
MIRT2660116	hsa-miR-4536	CLIP-seq
MIRT2146105	hsa-miR-4646-5p	CLIP-seq
MIRT2366617	hsa-miR-4666-3p	CLIP-seq
MIRT2660118	hsa-miR-4674	CLIP-seq
MIRT2660119	hsa-miR-4687-5p	CLIP-seq
MIRT2146106	hsa-miR-4691-5p	CLIP-seq
MIRT2695059	hsa-miR-4692	CLIP-seq
MIRT2660121	hsa-miR-4694-3p	CLIP-seq
MIRT2695060	hsa-miR-4695-3p	CLIP-seq
MIRT2146107	hsa-miR-4699-3p	CLIP-seq
MIRT2660122	hsa-miR-4699-5p	CLIP-seq
MIRT2660125	hsa-miR-4725-3p	CLIP-seq
MIRT2366620	hsa-miR-4727-5p	CLIP-seq
MIRT2660126	hsa-miR-4728-5p	CLIP-seq
MIRT2660128	hsa-miR-4731-5p	CLIP-seq
MIRT2660129	hsa-miR-4739	CLIP-seq
MIRT2695061	hsa-miR-4742-5p	CLIP-seq
MIRT2695062	hsa-miR-4749-3p	CLIP-seq
MIRT2660130	hsa-miR-4756-5p	CLIP-seq
MIRT2660131	hsa-miR-4757-5p	CLIP-seq
MIRT2660133	hsa-miR-4791	CLIP-seq
MIRT2660134	hsa-miR-4795-5p	CLIP-seq
MIRT2660135	hsa-miR-4796-3p	CLIP-seq
MIRT2660138	hsa-miR-499-3p	CLIP-seq
MIRT2660139	hsa-miR-499-5p	CLIP-seq
MIRT2660140	hsa-miR-499a-3p	CLIP-seq
MIRT2660141	hsa-miR-515-5p	CLIP-seq
MIRT2695063	hsa-miR-532-5p	CLIP-seq
MIRT2660142	hsa-miR-539	CLIP-seq
MIRT2660143	hsa-miR-541	CLIP-seq
MIRT2660144	hsa-miR-543	CLIP-seq
MIRT2660148	hsa-miR-548n	CLIP-seq
MIRT2660149	hsa-miR-548o	CLIP-seq
MIRT2660150	hsa-miR-548t	CLIP-seq
MIRT2366623	hsa-miR-549	CLIP-seq
MIRT2660156	hsa-miR-602	CLIP-seq
MIRT2660158	hsa-miR-654-5p	CLIP-seq
MIRT2366624	hsa-miR-671-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0006623	Process	Protein targeting to vacuole	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IMP	29307555, 29604224
GO:0045053	Process	Protein retention in Golgi apparatus	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1901526	Process	Positive regulation of mitophagy	IMP	29307555

Other IDs

• MIM: 608877
• HGNC: 23595
• e!Ensembl: ENSG00000048707

Protein

• UniProt ID: Q5THJ4
• Protein name: Intermembrane lipid transfer protein VPS13D (Vacuolar protein sorting-associated protein 13D)
• Protein function: Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (Pu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12624	Chorein_N	2 → 116	N-terminal region of Chorein or VPS13	Family
  PF16908	VPS13	136 → 358	Vacuolar sorting-associated protein 13, N-terminal	Family
  PF16910	VPS13_mid_rpt	613 → 774	Repeating coiled region of VPS13	Repeat
  PF16910	VPS13_mid_rpt	782 → 901	Repeating coiled region of VPS13	Repeat
  PF00627	UBA	2637 → 2673	UBA/TS-N domain	Domain
  PF06650	SHR-BD	3276 → 3560	SHR-binding domain of vacuolar-sorting associated protein 13	Family
  PF16909	VPS13_C	3982 → 4130	Vacuolar-sorting-associated 13 protein C-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15498460}.
• Sequence:

  MLEGLVAWVLNTYLGKYVNNLNTDQLSVALLKGAVELENLPLKKDALKELELPFEVKAGF
  IGKVTLQIPFYRPHVDPWVISISSLHLIGAPEKIQDFNDEKEKLLERERKKALLQALEEK
  WKNDRQQKGESYWYSVTASVVTRIVENIELKIQDVHLRFEDGVTNPSHPFAFGICIKNVS
  MQNAVNEPVQKLMRKKQLDVAEFSIYWDVDCTLLGDLPQMELQEAMARSMESRSHHYVLE
  PVFASALLKRNCSKKPLRSRHSPRIDCDIQLETIPLKLSQLQYRQIMEFLKELERKERQV
  KFRRWKPKVAISKNCREWWYFALNANLYEIREQRKRCTWDFMLHRARDAVSYTDKYFNKL
  KGGLLSTDDKEEMCRIEEEQSFEELKILRELVHDRFHKQEELAESLREPQFDSPGACPGA
  PEPGGGSGMLQYLQSWFPGWGGWYGQQTPEGNVVEGLSAEQQEQWIPEEILGTEEFFDPT
  ADASCMNTYTKRDHVFAKLNLQLQRGTVTLLHKEQGTPQMNESAFMQLEFSDVKLLAESL
  PRRNSSLLSVRLGGLFLRDLATEGTMFPLLVFPNPQKEVGRVSQSFGLQTTSADRSDHYP
  AADPDGPVFEMLYERNPAHSHFERRLNVSTRPLNIIYNPQAIKKVADFFYKGKVHTSGFG
  YQSELELRVAEAARRQYNKLKMQTKAEIRQTLDRLLVGDFIEESKRWTVRLDISAPQVIF
  PDDFKFKNPVLVVVDLGRMLLTNTQDNSRRKSRDGSASEETQFSDDEYKTPLATPPNTPP
  PESSSSNGEKTPPFSGVEFSEEQLQAHLMSTKMYERYSLSFMDLQIMVGRVKDNWKHVQD
  IDVGPTHVVEKFNVHLQLERRLIYTSDPKYPGAVLSGNLPDLKIHINEDKISALKNCFAL
  LTTPEMKTSDTQIKEKIFPQEEQRGSLQDSVMNLTQSIVLLEQHTREVLVESQLLLAEFK
  VNCMQLGVESNGRYISVLKVFGTNAHFVKRPYDAEVSLTVHGLLLVDTMQTYGADFDLLM
  ASHKNLSFDIPTGSLRDSRAQSPVSGPNVAHLTDGATLNDRSATSVSLDKILTKEQESLI
  KLEYQFVSSECPSMNLDSTLQVISLQVNNLDIILNPETIVELIGFLQKSFPKEKDDLSPQ
  PLMTDFERSFREQGTYQSTYEQNTEVAVEIHRLNLLLLRTVGMANREKYGRKIATASIGG
  TKVNVSMGSTFDMNGSLGCLQLMDLTQDNVKNQYVVSIGNSVGYENIISDIGYFESVFVR
  MEDAALTEALSFTFVERSKQECFLNLKMASLHYNHSAKFLKELTLSMDELEENFRGMLKS
  AATKVTTVLATKTAEYSEMVSLFETPRKTREPFILEENEIYGFDLASSHLDTVKLILNIN
  IESPVVSIPRKPGSPELLVGHLGQIFIQNFVAGDDESRSDRLQVEIKDIKLYSLNCTQLA
  GREAVGSEGSRMFCPPSGSGSANSQEEAHFTRHDFFESLHRGQAFHILNNTTIQFKLEKI
  PIERESELTFSLSPDDLGTSSIMKIEGKFVNPVQVVLAKHVYEQVLQTLDNLVYSEDLNK
  YPASATSSPCPDSPLPPLSTCGESSVERKENGLFSHSSLSNTSQKSLSVKEVKSFTQIQA
  TFCISELQVQLSGDLTLGAQGLVSLKFQDFEVEFSKDHPQTLSIQIALHSLLMEDLLEKN
  PDSKYKNLMVSRGAPKPSSLAQKEYLSQSCPSVSNVEYPDMPRSLPSHMEEAPNVFQLYQ
  RPTSASRKKQKEVQDKDYPLTPPPSPTVDEPKILVGKSKFDDSLVHINIFLVDKKHPEFS
  SSYNRVNRSIDVDFNCLDVLITLQTWVVILDFFGIGSTADNHAMRLPPEGILHNVKLEPH
  ASMESGLQDPVNTKLDLKVHSLSLVLNKTTSELAKANVSKLVAHLEMIEGDLALQGSIGS
  LSLSDLTCHGEFYRERFTTSGEEALIFQTFKYGRPDPLLRREHDIRVSLRMASVQYVHTQ
  RFQAEVVAFIQHFTQLQDVLGRQRAAIEGQTVRDQAQRCSRVLLDIEAGAPVLLIPESSR
  SNNLIVANLGKLKVKNKFLFAGFPGTFSLQDKESVPSASPTGIPKHSLRKTTSTEEPRGT
  HSQGQFTMPLAGMSLGSLKSEFVPSTSTKQQGPQPTLSVGQESSSPEDHVCLLDCVVVDL
  QDMDIFAAERHPREYSKAPEDSSGDLIFPSYFVRQTGGSLLTEPCRLKLQVERNLDKEIS
  HTVPDISIHGNLSSVHCSLDLYKYKLIRGLLENNLGEPIEEFMRPYDLQDPRIHTVLSGE
  VYTCMCFLIDMVNVSLELKDPKRKEGAGSLARFDFKKCKLLYESFSNQTKSINLVSHSMM
  AFDTRYAGQKTSPGMTNVFSCIFQPAKNSSTTQGSIQIELHFRSTKDSSCFTVVLNNLRV
  FLIFDWLLLVHDFLHTPSDIKKQNHVTPSRHRNSSSESAIVPKTVKSGVVTKRSSLPVSN
  ERHLEVKVNVTGTEFVVIEDVSCFDTNAIILKGTTVLTYKPRFVDRPFSGSLFGIEVFSC
  RLGNEHDTALSIVDPVQIQMELVGNSSYQNSSGLMDAFNSEDFPPVLEIQLQALDIRLSY
  NDVQLFLAIAKSIPEQANAAVPDSVALESDSVGTYLPGASRVGEEIREGTRHTLDPVLEL
  QLARLQELGFSMDDCRKALLACQGQLKKAASWLFKNAEPLKSLSLASTSRDSPGAVAAPL
  ISGVEIKAESVCICFIDDCMDCDVPLAELTFSRLNFLQRVRTSPEGYAHFTLSGDYYNRA
  LSGWEPFIEPWPCSVSWQQQAASRLHPPRLKLEAKAKPRLDINITSVLIDQYVSTKESWM
  ADYCKDDKDIESAKSEDWMGSSVDPPCFGQSLPLVYLRTRSTASLTNLEHQIYARAEVKT
  PKRRQPFVPFALRNHTGCTLWFATLTTTPTRAALSHSGSPGVVPEGNGTFLDDTHNVSEW
  REVLTGEEIPFEFEARGKLRHRHTHDLRIHQLQVRVNGWEQVSPVSVDKVGTFFRYAAPD
  KNSSSSTIGSPSSRTNIIHPQVYFSSLPPVRVVFAVTMEGSARKVITVRSALIVRNRLET
  PMELRLDSPSAPDKPVVLPAIMPGDSFAVPLHLTSWRLQARPKGLGVFFCKAPIHWTNVV
  KTAEISSSKRECHSMDTEKSRFFRFCVAIKKENYPDYMPSNIFSDSAKQIFRQPGHTIYL
  LPTVVICNLLPCELDFYVKGMPINGTLKPGKEAALHTADTSQNIELGVSLENFPLCKELL
  IPPGTQNYMVRMRLYDVNRRQLNLTIRIVCRAEGSLKIFISAPYWLINKTGLPLIFRQDN
  AKTDAAGQFEEHELARSLSPLLFCYADKEQPNLCTMRIGRGIHPEGMPGWCQGFSLDGGS
  GVRALKVIQQGNRPGLIYNIGIDVKKGRGRYIDTCMVIFAPRYLLDNKSSHKLAFAQREF
  ARGQGTANPEGYISTLPGSSVVFHWPRNDYDQLLCVRLMDVPNCIWSGGFEVNKNNSFHI
  NMRDTLGKCFFLRVEITLRGATYRISFSDTDQLPPPFRIDNFSKVPVVFTQHGVAEPRLR
  TEVKPMTSLDYAWDEPTLPPFITLTVKGAGSSEINCNMNDFQDNRQLYYENFIYIAATYT
  FSGLQEGTGRPVASNKAITCAELVLDVSPKTQRVILKKKEPGKRSQLWRMTGTGMLAHEG
  SSVPHNPNKPSAARSTEGSAILDIAGLAAVTDNRYEPLMLRKPDRRRSTTQTWSFREGKL
  TCGLHGLVVQAKGGLSGLFDGAEVVLGPDTSMELLGPVPPEQQFINQKMRPGSGMLSIRV
  IPDGPTRALQITDFCHRKSSRSYEVDELPVTEQELQKLKNPDTEQELEVLVRLEGGIGLS
  LINKVPEELVFASLTGINVHYTQLATSHMLELSIQDVQVDNQLIGTTQPFMLYVTPLSNE
  NEVIETGPAVQVNAVKFPSKSALTNIYKHLMITAQRFTVQIEEKLLLKLLSFFGYDQAES
  EVEKYDENLHEKTAEQGGTPIRYYFENLKISIPQIKLSVFTSNKLPLDLKALKSTLGFPL
  IRFEDAVINLDPFTRVHPYETKEFIINDILKHFQEELLSQAARILGSVDFLGNPMGLLND
  VSEGVTGLIKYGNVGGLIRNVTHGVSNSAAKFAGTLSDGLGKTMDNRHQSEREYIRYHAA
  TSGEHLVAGIHGLAHGIIGGLTSVITSTVEGVKTEGGVSGFISGLGKGLVGTVTKPVAGA
  LDFASETAQAVRDTATLSGPRTQAQRVRKPRCCTGPQGLLPRYSESQAEGQEQLFKLTDN
  IQDEFFIAVENIDSYCVLISSKAVYFLKSGDYVDREAIFLEVKYDDLYHCLVSKDHGKVY
  VQVTKKAVSTSSGVSIPGPSHQKPMVHVKSEVLAVKLSQEINYAKSLYYEQQLMLRLSEN
  REQLELDS

• Sequence length: 4388

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive cerebellar ataxia	Pathogenic	rs2524405777	RCV003226138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	Likely pathogenic; Pathogenic	rs752359125, rs372431023, rs2101615505, rs202180923, rs2521537710, rs2521645799, rs2524054030, rs2524377730, rs2524078674, rs2523928931, rs1557680919, rs1557680710, rs1557684974, rs1557705968, rs1557737087, rs756025227, rs779850187, rs868354311, rs758368974, rs1645321968, rs1645392057	RCV001330662 RCV001726516 RCV001726517 RCV002251179 RCV002280367 RCV002280368 RCV003131880 RCV003153216 RCV003447681 RCV004595273 RCV000680228 RCV000680229 RCV000680231 RCV000680232 RCV000680233 RCV000995677 RCV000995909 RCV001200859 RCV001201341 RCV001263145 RCV001263146	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leigh syndrome	Likely pathogenic	rs2521974385	RCV003110166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 4	Likely pathogenic	rs868354311	RCV004556078	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar atrophy	Likely pathogenic	rs752094174	RCV003335927	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VPS13D-related disorder	Likely pathogenic; Pathogenic	rs1288603602, rs1557708642	RCV003420907 RCV003981507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC GASTRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-MOVEMENT DISORDER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immune hydrops fetalis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	GWASDB_DG	24406073		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29604224, 36156252	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	29604224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	36156252	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	31876103	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31876103, 36156252	Associate	★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	31876103	Associate	★☆☆☆☆ 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	31876103	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	36156252	Associate	★☆☆☆☆ Found in Text Mining only
Left Bundle-Branch Block	Left Bundle-Branch Block	BEFREE	30497733		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36675121	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29518281, 29604224		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	29604224, 31876103, 34019822, 36156252	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29518281, 29604224		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	29604224, 31876103, 36156252	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	20610895	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	29604224, 31876103, 31943017, 35151251	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	31876103	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia autosomal recessive 4	Spinocerebellar ataxia	Pubtator	29604224	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4	Spinocerebellar Ataxia	UNIPROT_DG	29518281, 29604224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	29604224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	33891012	Associate	★☆☆☆☆ Found in Text Mining only