Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	7415
Gene name	Valosin containing protein
Gene symbol	VCP
Synonyms (NCBI Gene)	CDC48FTDALS6TERAp97
Chromosome	9
Chromosome location	9p13.3
Summary	This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. Th

21 Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909329	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs121909330	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909331	G>T	Pathogenic	Coding sequence variant, missense variant
rs121909332	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909334	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909335	C>T	Pathogenic	Coding sequence variant, missense variant
rs145508640	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs147623367	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201610567	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906789	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs387906790	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs779959657	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs863225291	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs864309501	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs864309502	C>T	Pathogenic	Coding sequence variant, missense variant
rs866101707	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1490390928	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554668979	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554669087	G>A	Pathogenic	Coding sequence variant, missense variant
rs1563976866	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1563980979	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

363 Show/Hide all (363)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029447	hsa-miR-26b-5p	Microarray	19088304
MIRT048477	hsa-miR-100-5p	CLASH	23622248
MIRT048237	hsa-miR-196a-5p	CLASH	23622248
MIRT046614	hsa-miR-222-3p	CLASH	23622248
MIRT044062	hsa-miR-361-5p	CLASH	23622248
MIRT038367	hsa-miR-296-3p	CLASH	23622248
MIRT038268	hsa-miR-361-3p	CLASH	23622248
MIRT036672	hsa-miR-935	CLASH	23622248
MIRT036129	hsa-miR-1296-5p	CLASH	23622248
MIRT035997	hsa-miR-1301-3p	CLASH	23622248
MIRT464247	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT464246	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT464245	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT464243	hsa-miR-3125	PAR-CLIP	23592263
MIRT464244	hsa-miR-3916	PAR-CLIP	23592263
MIRT464242	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT464241	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT464240	hsa-miR-4459	PAR-CLIP	23592263
MIRT464239	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT464238	hsa-miR-3185	PAR-CLIP	23592263
MIRT464237	hsa-miR-383-5p	PAR-CLIP	23592263
MIRT464236	hsa-miR-4772-5p	PAR-CLIP	23592263
MIRT464247	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT464246	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT464245	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT464243	hsa-miR-3125	PAR-CLIP	23592263
MIRT464244	hsa-miR-3916	PAR-CLIP	23592263
MIRT464242	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT464241	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT464240	hsa-miR-4459	PAR-CLIP	23592263
MIRT464239	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT464238	hsa-miR-3185	PAR-CLIP	23592263
MIRT464237	hsa-miR-383-5p	PAR-CLIP	23592263
MIRT464236	hsa-miR-4772-5p	PAR-CLIP	23592263
MIRT1483397	hsa-miR-1183	CLIP-seq
MIRT1483398	hsa-miR-1245	CLIP-seq
MIRT1483399	hsa-miR-1290	CLIP-seq
MIRT1483400	hsa-miR-129-5p	CLIP-seq
MIRT1483401	hsa-miR-136	CLIP-seq
MIRT1483402	hsa-miR-1915	CLIP-seq
MIRT1483403	hsa-miR-198	CLIP-seq
MIRT1483404	hsa-miR-2355-3p	CLIP-seq
MIRT1483405	hsa-miR-23a	CLIP-seq
MIRT1483406	hsa-miR-23b	CLIP-seq
MIRT1483407	hsa-miR-23c	CLIP-seq
MIRT1483408	hsa-miR-299-5p	CLIP-seq
MIRT1483409	hsa-miR-3122	CLIP-seq
MIRT1483410	hsa-miR-3132	CLIP-seq
MIRT1483411	hsa-miR-3137	CLIP-seq
MIRT1483412	hsa-miR-3138	CLIP-seq
MIRT1483413	hsa-miR-3155	CLIP-seq
MIRT1483414	hsa-miR-3155b	CLIP-seq
MIRT1483415	hsa-miR-3189-3p	CLIP-seq
MIRT1483416	hsa-miR-338-3p	CLIP-seq
MIRT1483417	hsa-miR-339-5p	CLIP-seq
MIRT1483418	hsa-miR-3689a-3p	CLIP-seq
MIRT1483419	hsa-miR-3689c	CLIP-seq
MIRT1483420	hsa-miR-3913-5p	CLIP-seq
MIRT1483421	hsa-miR-3918	CLIP-seq
MIRT1483422	hsa-miR-410	CLIP-seq
MIRT1483423	hsa-miR-4269	CLIP-seq
MIRT1483424	hsa-miR-4312	CLIP-seq
MIRT1483425	hsa-miR-4494	CLIP-seq
MIRT1483426	hsa-miR-450b-3p	CLIP-seq
MIRT1483427	hsa-miR-450b-5p	CLIP-seq
MIRT1483428	hsa-miR-4530	CLIP-seq
MIRT1483429	hsa-miR-4640-3p	CLIP-seq
MIRT1483430	hsa-miR-4687-3p	CLIP-seq
MIRT1483431	hsa-miR-4690-5p	CLIP-seq
MIRT1483432	hsa-miR-4714-3p	CLIP-seq
MIRT1483433	hsa-miR-4726-3p	CLIP-seq
MIRT1483434	hsa-miR-4738-3p	CLIP-seq
MIRT1483435	hsa-miR-4760-5p	CLIP-seq
MIRT1483436	hsa-miR-484	CLIP-seq
MIRT1483437	hsa-miR-499a-5p	CLIP-seq
MIRT1483438	hsa-miR-507	CLIP-seq
MIRT1483439	hsa-miR-510	CLIP-seq
MIRT1483440	hsa-miR-520a-5p	CLIP-seq
MIRT1483441	hsa-miR-525-5p	CLIP-seq
MIRT1483442	hsa-miR-532-5p	CLIP-seq
MIRT1483443	hsa-miR-541	CLIP-seq
MIRT1483444	hsa-miR-548m	CLIP-seq
MIRT1483445	hsa-miR-557	CLIP-seq
MIRT1483446	hsa-miR-586	CLIP-seq
MIRT1483447	hsa-miR-616	CLIP-seq
MIRT1483448	hsa-miR-654-5p	CLIP-seq
MIRT1483449	hsa-miR-659	CLIP-seq
MIRT1483450	hsa-miR-676	CLIP-seq
MIRT1483451	hsa-miR-7	CLIP-seq
MIRT1483452	hsa-miR-769-3p	CLIP-seq
MIRT1483400	hsa-miR-129-5p	CLIP-seq
MIRT2145536	hsa-miR-133a	CLIP-seq
MIRT2145537	hsa-miR-133b	CLIP-seq
MIRT1483401	hsa-miR-136	CLIP-seq
MIRT2145538	hsa-miR-1972	CLIP-seq
MIRT1483404	hsa-miR-2355-3p	CLIP-seq
MIRT1483408	hsa-miR-299-5p	CLIP-seq
MIRT1483413	hsa-miR-3155	CLIP-seq
MIRT1483414	hsa-miR-3155b	CLIP-seq
MIRT2145539	hsa-miR-4267	CLIP-seq
MIRT2145540	hsa-miR-4318	CLIP-seq
MIRT2145541	hsa-miR-4514	CLIP-seq
MIRT2145542	hsa-miR-4645-5p	CLIP-seq
MIRT2145543	hsa-miR-4673	CLIP-seq
MIRT2145544	hsa-miR-4692	CLIP-seq
MIRT2145545	hsa-miR-4764-3p	CLIP-seq
MIRT1483436	hsa-miR-484	CLIP-seq
MIRT1483447	hsa-miR-616	CLIP-seq
MIRT1483449	hsa-miR-659	CLIP-seq
MIRT1483450	hsa-miR-676	CLIP-seq
MIRT2145546	hsa-miR-9	CLIP-seq
MIRT2145547	hsa-miR-940	CLIP-seq
MIRT2365863	hsa-miR-103a	CLIP-seq
MIRT2365864	hsa-miR-105	CLIP-seq
MIRT2365865	hsa-miR-107	CLIP-seq
MIRT1483397	hsa-miR-1183	CLIP-seq
MIRT2365866	hsa-miR-1205	CLIP-seq
MIRT2365867	hsa-miR-1207-5p	CLIP-seq
MIRT2365868	hsa-miR-1228	CLIP-seq
MIRT1483398	hsa-miR-1245	CLIP-seq
MIRT1483399	hsa-miR-1290	CLIP-seq
MIRT1483400	hsa-miR-129-5p	CLIP-seq
MIRT2365869	hsa-miR-1305	CLIP-seq
MIRT2145536	hsa-miR-133a	CLIP-seq
MIRT2145537	hsa-miR-133b	CLIP-seq
MIRT1483401	hsa-miR-136	CLIP-seq
MIRT2365870	hsa-miR-1825	CLIP-seq
MIRT2365871	hsa-miR-1827	CLIP-seq
MIRT2365872	hsa-miR-183	CLIP-seq
MIRT2365873	hsa-miR-1910	CLIP-seq
MIRT1483403	hsa-miR-198	CLIP-seq
MIRT2365874	hsa-miR-199a-3p	CLIP-seq
MIRT2365875	hsa-miR-199a-5p	CLIP-seq
MIRT2365876	hsa-miR-199b-3p	CLIP-seq
MIRT2365877	hsa-miR-199b-5p	CLIP-seq
MIRT2365878	hsa-miR-204	CLIP-seq
MIRT2365879	hsa-miR-211	CLIP-seq
MIRT2365880	hsa-miR-217	CLIP-seq
MIRT2365881	hsa-miR-2276	CLIP-seq
MIRT1483404	hsa-miR-2355-3p	CLIP-seq
MIRT1483405	hsa-miR-23a	CLIP-seq
MIRT1483406	hsa-miR-23b	CLIP-seq
MIRT1483407	hsa-miR-23c	CLIP-seq
MIRT1483408	hsa-miR-299-5p	CLIP-seq
MIRT1483409	hsa-miR-3122	CLIP-seq
MIRT2365882	hsa-miR-3123	CLIP-seq
MIRT2365883	hsa-miR-3129-5p	CLIP-seq
MIRT1483410	hsa-miR-3132	CLIP-seq
MIRT2365884	hsa-miR-3136-3p	CLIP-seq
MIRT1483411	hsa-miR-3137	CLIP-seq
MIRT2365885	hsa-miR-3158-5p	CLIP-seq
MIRT2365886	hsa-miR-3162-3p	CLIP-seq
MIRT2365887	hsa-miR-3166	CLIP-seq
MIRT2365888	hsa-miR-3167	CLIP-seq
MIRT2365889	hsa-miR-3178	CLIP-seq
MIRT1483415	hsa-miR-3189-3p	CLIP-seq
MIRT2365890	hsa-miR-331-3p	CLIP-seq
MIRT1483416	hsa-miR-338-3p	CLIP-seq
MIRT1483417	hsa-miR-339-5p	CLIP-seq
MIRT2365891	hsa-miR-34a	CLIP-seq
MIRT2365892	hsa-miR-34c-5p	CLIP-seq
MIRT2365893	hsa-miR-3545-3p	CLIP-seq
MIRT2365894	hsa-miR-3614-3p	CLIP-seq
MIRT2365895	hsa-miR-3665	CLIP-seq
MIRT2365896	hsa-miR-3671	CLIP-seq
MIRT2365897	hsa-miR-3682-5p	CLIP-seq
MIRT2365898	hsa-miR-3688-5p	CLIP-seq
MIRT1483418	hsa-miR-3689a-3p	CLIP-seq
MIRT1483419	hsa-miR-3689c	CLIP-seq
MIRT2365899	hsa-miR-3692	CLIP-seq
MIRT2365900	hsa-miR-371-3p	CLIP-seq
MIRT2365901	hsa-miR-371b-3p	CLIP-seq
MIRT2365902	hsa-miR-371b-5p	CLIP-seq
MIRT2365903	hsa-miR-377	CLIP-seq
MIRT2365904	hsa-miR-3913-3p	CLIP-seq
MIRT1483420	hsa-miR-3913-5p	CLIP-seq
MIRT2365905	hsa-miR-3925-5p	CLIP-seq
MIRT2365906	hsa-miR-3938	CLIP-seq
MIRT2365907	hsa-miR-3976	CLIP-seq
MIRT1483422	hsa-miR-410	CLIP-seq
MIRT2365908	hsa-miR-4265	CLIP-seq
MIRT2365909	hsa-miR-4281	CLIP-seq
MIRT2365910	hsa-miR-4287	CLIP-seq
MIRT2365911	hsa-miR-4296	CLIP-seq
MIRT2365912	hsa-miR-4310	CLIP-seq
MIRT2365913	hsa-miR-4311	CLIP-seq
MIRT1483424	hsa-miR-4312	CLIP-seq
MIRT2365914	hsa-miR-4316	CLIP-seq
MIRT2145540	hsa-miR-4318	CLIP-seq
MIRT2365915	hsa-miR-4322	CLIP-seq
MIRT2365916	hsa-miR-4417	CLIP-seq
MIRT2365917	hsa-miR-4418	CLIP-seq
MIRT2365918	hsa-miR-4422	CLIP-seq
MIRT2365919	hsa-miR-4434	CLIP-seq
MIRT2365920	hsa-miR-4463	CLIP-seq
MIRT2365921	hsa-miR-4475	CLIP-seq
MIRT1483425	hsa-miR-4494	CLIP-seq
MIRT2365922	hsa-miR-4495	CLIP-seq
MIRT2365923	hsa-miR-449a	CLIP-seq
MIRT2365924	hsa-miR-449b	CLIP-seq
MIRT1483426	hsa-miR-450b-3p	CLIP-seq
MIRT1483427	hsa-miR-450b-5p	CLIP-seq
MIRT2365925	hsa-miR-4516	CLIP-seq
MIRT1483428	hsa-miR-4530	CLIP-seq
MIRT2365926	hsa-miR-4531	CLIP-seq
MIRT2365927	hsa-miR-4539	CLIP-seq
MIRT2365928	hsa-miR-4639-3p	CLIP-seq
MIRT1483429	hsa-miR-4640-3p	CLIP-seq
MIRT2365929	hsa-miR-4650-5p	CLIP-seq
MIRT2365930	hsa-miR-4685-3p	CLIP-seq
MIRT1483431	hsa-miR-4690-5p	CLIP-seq
MIRT2365931	hsa-miR-4693-5p	CLIP-seq
MIRT2365932	hsa-miR-4710	CLIP-seq
MIRT2365933	hsa-miR-4713-3p	CLIP-seq
MIRT1483432	hsa-miR-4714-3p	CLIP-seq
MIRT1483433	hsa-miR-4726-3p	CLIP-seq
MIRT2365934	hsa-miR-4736	CLIP-seq
MIRT1483434	hsa-miR-4738-3p	CLIP-seq
MIRT2365935	hsa-miR-4760-3p	CLIP-seq
MIRT1483435	hsa-miR-4760-5p	CLIP-seq
MIRT2365936	hsa-miR-4763-3p	CLIP-seq
MIRT2145545	hsa-miR-4764-3p	CLIP-seq
MIRT2365937	hsa-miR-4771	CLIP-seq
MIRT2365938	hsa-miR-4793-3p	CLIP-seq
MIRT2365939	hsa-miR-487a	CLIP-seq
MIRT1483437	hsa-miR-499a-5p	CLIP-seq
MIRT1483438	hsa-miR-507	CLIP-seq
MIRT2365940	hsa-miR-508-3p	CLIP-seq
MIRT2365941	hsa-miR-509-3-5p	CLIP-seq
MIRT2365942	hsa-miR-509-5p	CLIP-seq
MIRT2365943	hsa-miR-515-3p	CLIP-seq
MIRT2365944	hsa-miR-519a	CLIP-seq
MIRT2365945	hsa-miR-519b-3p	CLIP-seq
MIRT2365946	hsa-miR-519c-3p	CLIP-seq
MIRT2365947	hsa-miR-519e	CLIP-seq
MIRT1483440	hsa-miR-520a-5p	CLIP-seq
MIRT1483441	hsa-miR-525-5p	CLIP-seq
MIRT1483442	hsa-miR-532-5p	CLIP-seq
MIRT1483443	hsa-miR-541	CLIP-seq
MIRT2365948	hsa-miR-550b	CLIP-seq
MIRT1483445	hsa-miR-557	CLIP-seq
MIRT1483446	hsa-miR-586	CLIP-seq
MIRT2365949	hsa-miR-607	CLIP-seq
MIRT1483447	hsa-miR-616	CLIP-seq
MIRT2365950	hsa-miR-627	CLIP-seq
MIRT2365951	hsa-miR-630	CLIP-seq
MIRT1483448	hsa-miR-654-5p	CLIP-seq
MIRT1483449	hsa-miR-659	CLIP-seq
MIRT2365952	hsa-miR-663b	CLIP-seq
MIRT2365953	hsa-miR-665	CLIP-seq
MIRT2365954	hsa-miR-670	CLIP-seq
MIRT1483450	hsa-miR-676	CLIP-seq
MIRT1483451	hsa-miR-7	CLIP-seq
MIRT1483452	hsa-miR-769-3p	CLIP-seq
MIRT2365955	hsa-miR-876-5p	CLIP-seq
MIRT2365956	hsa-miR-888	CLIP-seq
MIRT2365957	hsa-miR-892a	CLIP-seq
MIRT2145546	hsa-miR-9	CLIP-seq
MIRT1483399	hsa-miR-1290	CLIP-seq
MIRT2365870	hsa-miR-1825	CLIP-seq
MIRT2365875	hsa-miR-199a-5p	CLIP-seq
MIRT2365877	hsa-miR-199b-5p	CLIP-seq
MIRT1483409	hsa-miR-3122	CLIP-seq
MIRT1483417	hsa-miR-339-5p	CLIP-seq
MIRT2365893	hsa-miR-3545-3p	CLIP-seq
MIRT1483420	hsa-miR-3913-5p	CLIP-seq
MIRT1483424	hsa-miR-4312	CLIP-seq
MIRT2396812	hsa-miR-4315	CLIP-seq
MIRT1483425	hsa-miR-4494	CLIP-seq
MIRT1483426	hsa-miR-450b-3p	CLIP-seq
MIRT2365927	hsa-miR-4539	CLIP-seq
MIRT1483435	hsa-miR-4760-5p	CLIP-seq
MIRT2396813	hsa-miR-4790-5p	CLIP-seq
MIRT1483437	hsa-miR-499a-5p	CLIP-seq
MIRT1483446	hsa-miR-586	CLIP-seq
MIRT1483449	hsa-miR-659	CLIP-seq
MIRT1483452	hsa-miR-769-3p	CLIP-seq
MIRT1483397	hsa-miR-1183	CLIP-seq
MIRT1483400	hsa-miR-129-5p	CLIP-seq
MIRT1483403	hsa-miR-198	CLIP-seq
MIRT1483404	hsa-miR-2355-3p	CLIP-seq
MIRT1483408	hsa-miR-299-5p	CLIP-seq
MIRT2365884	hsa-miR-3136-3p	CLIP-seq
MIRT1483411	hsa-miR-3137	CLIP-seq
MIRT2365889	hsa-miR-3178	CLIP-seq
MIRT2659479	hsa-miR-3189-5p	CLIP-seq
MIRT2365890	hsa-miR-331-3p	CLIP-seq
MIRT1483417	hsa-miR-339-5p	CLIP-seq
MIRT2365893	hsa-miR-3545-3p	CLIP-seq
MIRT2659480	hsa-miR-3646	CLIP-seq
MIRT2659481	hsa-miR-3647-3p	CLIP-seq
MIRT2365902	hsa-miR-371b-5p	CLIP-seq
MIRT2659482	hsa-miR-3922-5p	CLIP-seq
MIRT2365906	hsa-miR-3938	CLIP-seq
MIRT1483422	hsa-miR-410	CLIP-seq
MIRT2365908	hsa-miR-4265	CLIP-seq
MIRT2365909	hsa-miR-4281	CLIP-seq
MIRT2365911	hsa-miR-4296	CLIP-seq
MIRT2396812	hsa-miR-4315	CLIP-seq
MIRT2365915	hsa-miR-4322	CLIP-seq
MIRT2365916	hsa-miR-4417	CLIP-seq
MIRT2365918	hsa-miR-4422	CLIP-seq
MIRT2365919	hsa-miR-4434	CLIP-seq
MIRT2365920	hsa-miR-4463	CLIP-seq
MIRT1483425	hsa-miR-4494	CLIP-seq
MIRT2365922	hsa-miR-4495	CLIP-seq
MIRT2365925	hsa-miR-4516	CLIP-seq
MIRT2365926	hsa-miR-4531	CLIP-seq
MIRT2365927	hsa-miR-4539	CLIP-seq
MIRT2365928	hsa-miR-4639-3p	CLIP-seq
MIRT1483429	hsa-miR-4640-3p	CLIP-seq
MIRT1483431	hsa-miR-4690-5p	CLIP-seq
MIRT1483432	hsa-miR-4714-3p	CLIP-seq
MIRT1483434	hsa-miR-4738-3p	CLIP-seq
MIRT2659483	hsa-miR-4747-3p	CLIP-seq
MIRT2659484	hsa-miR-4758-3p	CLIP-seq
MIRT2365935	hsa-miR-4760-3p	CLIP-seq
MIRT2145545	hsa-miR-4764-3p	CLIP-seq
MIRT2396813	hsa-miR-4790-5p	CLIP-seq
MIRT1483437	hsa-miR-499a-5p	CLIP-seq
MIRT1483440	hsa-miR-520a-5p	CLIP-seq
MIRT1483441	hsa-miR-525-5p	CLIP-seq
MIRT1483447	hsa-miR-616	CLIP-seq
MIRT1483449	hsa-miR-659	CLIP-seq
MIRT2365954	hsa-miR-670	CLIP-seq
MIRT1483450	hsa-miR-676	CLIP-seq
MIRT2365956	hsa-miR-888	CLIP-seq
MIRT1483397	hsa-miR-1183	CLIP-seq
MIRT1483400	hsa-miR-129-5p	CLIP-seq
MIRT1483403	hsa-miR-198	CLIP-seq
MIRT1483404	hsa-miR-2355-3p	CLIP-seq
MIRT1483408	hsa-miR-299-5p	CLIP-seq
MIRT2365884	hsa-miR-3136-3p	CLIP-seq
MIRT1483411	hsa-miR-3137	CLIP-seq
MIRT2659479	hsa-miR-3189-5p	CLIP-seq
MIRT1483417	hsa-miR-339-5p	CLIP-seq
MIRT2365893	hsa-miR-3545-3p	CLIP-seq
MIRT2365902	hsa-miR-371b-5p	CLIP-seq
MIRT2659482	hsa-miR-3922-5p	CLIP-seq
MIRT2365906	hsa-miR-3938	CLIP-seq
MIRT2396812	hsa-miR-4315	CLIP-seq
MIRT2365918	hsa-miR-4422	CLIP-seq
MIRT2365919	hsa-miR-4434	CLIP-seq
MIRT2365920	hsa-miR-4463	CLIP-seq
MIRT1483425	hsa-miR-4494	CLIP-seq
MIRT2365922	hsa-miR-4495	CLIP-seq
MIRT2365925	hsa-miR-4516	CLIP-seq
MIRT2365926	hsa-miR-4531	CLIP-seq
MIRT2365927	hsa-miR-4539	CLIP-seq
MIRT1483429	hsa-miR-4640-3p	CLIP-seq
MIRT1483434	hsa-miR-4738-3p	CLIP-seq
MIRT2659483	hsa-miR-4747-3p	CLIP-seq
MIRT2659484	hsa-miR-4758-3p	CLIP-seq
MIRT2145545	hsa-miR-4764-3p	CLIP-seq
MIRT2396813	hsa-miR-4790-5p	CLIP-seq
MIRT1483437	hsa-miR-499a-5p	CLIP-seq
MIRT1483440	hsa-miR-520a-5p	CLIP-seq
MIRT1483441	hsa-miR-525-5p	CLIP-seq
MIRT1483447	hsa-miR-616	CLIP-seq
MIRT1483449	hsa-miR-659	CLIP-seq
MIRT2365954	hsa-miR-670	CLIP-seq
MIRT1483450	hsa-miR-676	CLIP-seq
MIRT2365956	hsa-miR-888	CLIP-seq

Transcription factor	Regulation	Reference
ELF2	Activation	18544453
PBX1	Activation	17200190
PBX2	Unknown	19356220

150 Show/Hide all (150)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000502	Component	Proteasome complex	IDA	9452483
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	9452483, 10364224, 10855792, 15161933, 15215856, 15743842, 16186510, 16275660, 16306228, 16407162, 16449189, 16525503, 17314412, 17525332, 17681147, 17872946, 18654987, 18656546, 18711132, 18775313, 19275885, 19570996, 19818707, 19822669, 20414249, 21135095, 21343306, 21645854, 2182
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10855792, 26842564
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	27753622
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	16601695
GO:0005783	Component	Endoplasmic reticulum	IDA	15215856, 24089527
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	24129571
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	17872946
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IDA	23297223
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	10855792, 15215856
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IMP	38710747
GO:0005829	Component	Cytosol	TAS	16186510
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	NAS	16140914
GO:0006302	Process	Double-strand break repair	IDA	10855792, 22120668
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	16601695
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IMP	20104022, 25125609
GO:0006974	Process	DNA damage response	IDA	35013556
GO:0006974	Process	DNA damage response	IDA	16140914, 22120668, 23042605
GO:0006974	Process	DNA damage response	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	37816088
GO:0008289	Function	Lipid binding	IEA
GO:0010494	Component	Cytoplasmic stress granule	IDA	29804830
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	29033132, 34711951
GO:0010498	Process	Proteasomal protein catabolic process	IMP	26565908
GO:0010918	Process	Positive regulation of mitochondrial membrane potential	IEA
GO:0010918	Process	Positive regulation of mitochondrial membrane potential	IMP	23498975
GO:0016236	Process	Macroautophagy	IMP	27753622
GO:0016567	Process	Protein ubiquitination	IDA	22120668
GO:0016567	Process	Protein ubiquitination	NAS	15215856
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IDA	24129571
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	23349634
GO:0016887	Function	ATP hydrolysis activity	TAS	15215856
GO:0019079	Process	Viral genome replication	IMP	22379090
GO:0019674	Process	NAD+ metabolic process	IMP	23498975
GO:0019903	Function	Protein phosphatase binding	IPI	10364224
GO:0019904	Function	Protein domain specific binding	IPI	15362974
GO:0019985	Process	Translesion synthesis	IMP	23042605
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS	15215856
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IBA
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IDA	15215856
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IEA
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IMP	25660456
GO:0030970	Process	Retrograde protein transport, ER to cytosol	ISO
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	18775313
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IBA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	11483959
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	22590560
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	9452483
GO:0032510	Process	Endosome to lysosome transport via multivesicular body sorting pathway	IMP	21822278
GO:0032991	Component	Protein-containing complex	IDA	21822278, 23349634
GO:0032991	Component	Protein-containing complex	IEA
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	IBA
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	IEA
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	IPI	20414249
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	ISS
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	TAS	16186510
GO:0034605	Process	Cellular response to heat	IMP	29804830
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035331	Process	Negative regulation of hippo signaling	IGI	38710747
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0035617	Process	Stress granule disassembly	IDA	36692217
GO:0035617	Process	Stress granule disassembly	IMP	29804830
GO:0035800	Function	Deubiquitinase activator activity	IDA	22970133
GO:0035861	Component	Site of double-strand break	IDA	22120668
GO:0036064	Component	Ciliary basal body	IDA
GO:0036297	Process	Interstrand cross-link repair	ISS
GO:0036435	Function	K48-linked polyubiquitin modification-dependent protein binding	IDA	37816088
GO:0036435	Function	K48-linked polyubiquitin modification-dependent protein binding	IEA
GO:0036503	Process	ERAD pathway	IDA	17872946, 24129571, 25088257
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IMP	20104022, 22607976, 24089527, 26265139
GO:0036503	Process	ERAD pathway	ISO
GO:0036503	Process	ERAD pathway	TAS	15215856
GO:0036513	Component	Derlin-1 retrotranslocation complex	IDA	15215856, 17872946
GO:0036513	Component	Derlin-1 retrotranslocation complex	IEA
GO:0042288	Function	MHC class I protein binding	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	20512113, 24055316, 25416956, 26712278, 26822609, 26849035
GO:0042981	Process	Regulation of apoptotic process	TAS	16130169
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	31387940
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	20104022
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	15743842
GO:0043231	Component	Intracellular membrane-bounded organelle	ISS
GO:0043531	Function	ADP binding	IEA
GO:0044389	Function	Ubiquitin-like protein ligase binding	IPI	16186510
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045184	Process	Establishment of protein localization	TAS	15215856
GO:0045202	Component	Synapse	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	11483959, 18775313
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IMP	23747190
GO:0046034	Process	ATP metabolic process	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16275660
GO:0050807	Process	Regulation of synapse organization	IEA
GO:0051228	Process	Mitotic spindle disassembly	IBA
GO:0061857	Process	Endoplasmic reticulum stress-induced pre-emptive quality control	IMP	26565908
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070842	Process	Aggresome assembly	IEA
GO:0071218	Process	Cellular response to misfolded protein	IMP	24089527
GO:0072389	Process	Flavin adenine dinucleotide catabolic process	IMP	23498975
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	28689657
GO:0097352	Process	Autophagosome maturation	IBA
GO:0097352	Process	Autophagosome maturation	IMP	20104022
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0106300	Process	Protein-DNA covalent cross-linking repair	IDA	32152270
GO:0120186	Process	Negative regulation of protein localization to chromatin	IDA	35013556
GO:0140036	Function	Ubiquitin-modified protein reader activity	IDA	29033132, 31387940, 35013556
GO:0140455	Process	Cytoplasm protein quality control	IDA	29033132
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IDA	37816088
GO:1903006	Process	Positive regulation of protein K63-linked deubiquitination	IDA	22970133
GO:1903715	Process	Regulation of aerobic respiration	IMP	23498975
GO:1903843	Process	Cellular response to arsenite ion	IMP	29804830
GO:1903862	Process	Positive regulation of oxidative phosphorylation	IMP	23498975
GO:1904288	Function	BAT3 complex binding	IPI	21636303
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:1904949	Component	ATPase complex	IEA
GO:1905634	Process	Regulation of protein localization to chromatin	IDA	32152270
GO:1990381	Function	Ubiquitin-specific protease binding	IEA
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	22590560, 22970133
GO:1990730	Component	VCP-NSFL1C complex	IEA
GO:1990730	Component	VCP-NSFL1C complex	IPI	21645854
GO:1990730	Component	VCP-NSFL1C complex	ISS
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IMP	23498975

MIM	HGNC	e!Ensembl
601023	12666	ENSG00000165280

P55072

Protein name

Transitional endoplasmic reticulum ATPase (TER ATPase) (EC 3.6.4.6) (15S Mg(2+)-ATPase p97 subunit) (Valosin-containing protein) (VCP)

Protein function

Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Gol

PDB

3EBB , 3HU1 , 3HU2 , 3HU3 , 3QC8 , 3QQ7 , 3QQ8 , 3QWZ , 3TIW , 4KDI , 4KDL , 4KLN , 4KO8 , 4KOD , 4P0A , 5B6C , 5C18 , 5C19 , 5C1A , 5C1B , 5DYG , 5DYI , 5EPP , 5FTJ , 5FTK , 5FTL , 5FTM , 5FTN , 5GLF , 5IFS , 5IFW , 5KIW , 5KIY , 5X4L , 6G2V , 6G2W , 6G2X , 6G2Y , 6G2Z , 6G30 , 6HD0 , 6MCK , 7BP8 , 7BP9 , 7BPA , 7BPB , 7JY5 , 7K56 , 7K57 , 7K59 , 7L5W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	241 → 371	ATPase family associated with various cellular activities (AAA)	Domain
PF00004	AAA	514 → 647	ATPase family associated with various cellular activities (AAA)	Domain
PF02359	CDC48_N	25 → 108	Cell division protein 48 (CDC48), N-terminal domain	Domain
PF02933	CDC48_2	125 → 191	Cell division protein 48 (CDC48), domain 2	Domain
PF09336	Vps4_C	711 → 762	Vps4 C terminal oligomerisation domain	Domain
PF17862	AAA_lid_3	393 → 454	AAA+ lid domain	Domain
PF17862	AAA_lid_3	669 → 714	AAA+ lid domain	Domain

Sequence

MASGADSKGDDLSTAILKQKNRPNRLIVDEAINEDNSVVSLSQPKMDELQLFRGDTVLLK
GKKRREAVCIVLSDDTCSDEKIRMNRVVRNNLRVRLGDVISIQPCPDVKYGKRIHVLPID
DTVEGITGNLFEVYLKPYFLEAYRPIRKGDIFLVRGGMRAVEFKVVETDPSPYCIVAPDT
VIHCEGEPIKREDEEESLNEVGYDDIGGCRKQLAQIKEMVELPLRHPALFKAIGVKPPRG
ILLYGPPGTGKTLIARAVANETGAFFFLINGPEIMSKLAGESESNLRKAFEEAEKNAPAI
IFIDELDAIAPKREKTHGEVERRIVSQLLTLMDGLKQRAHVIVMAATNRPNSIDPALRRF
GRFDREVDIGIPDATGRLEILQIHTKNMKLADDVDLEQVANETHGHVGADLAALCSEAAL
QAIRKKMDLIDLEDETIDAEVMNSLAVTMDDFRWALSQSNPSALRETVVEVPQVTWEDIG
GLEDVKRELQELVQYPVEHPDKFLKFGMTPSKGVLFYGPPGCGKTLLAKAIANECQANFI
SIKGPELLTMWFGESEANVREIFDKARQAAPCVLFFDELDSIAKARGGNIGDGGGAADRV
INQILTEMDGMSTKKNVFIIGATNRPDIIDPAILRPGRLDQLIYIPLPDEKSRVAILKAN
LRKSPVAKDVDLEFLAKMTNGFSGADLTEICQRACKLAIRESIESEIRRERERQTNPSAM
EVEEDDPVPEIRRDHFEEAMRFARRSVSDNDIRKYEMFAQTLQQSRGFGSFRFPSGNQGG
AGPSQGSGGGTGGSVYTEDNDDDLYG

Sequence length

806

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Mitophagy - animal	Translesion Synthesis by POLH
Protein processing in endoplasmic reticulum	HSF1 activation
Amyotrophic lateral sclerosis	ABC-family proteins mediated transport
Pathways of neurodegeneration - multiple diseases	N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Legionellosis	Hedgehog ligand biogenesis
	Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
	Defective CFTR causes cystic fibrosis
	Josephin domain DUBs
	Ovarian tumor domain proteases
	Neutrophil degranulation
	E3 ubiquitin ligases ubiquitinate target proteins
	Protein methylation

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (12)
Alzheimer disease	Likely pathogenic	rs866101707	RCV000736269	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 6	Likely pathogenic	rs387906789	RCV001271083	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2Y	Likely pathogenic; Pathogenic	rs864309501, rs864309502, rs121909334, rs2490360233	RCV000202444 RCV000202492 RCV002496309 RCV003883215	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood Onset VCP-related Neurodevelopmental Disorder	Likely pathogenic	rs2490360271, rs2490360233, rs2490355959, rs2490351461	RCV003333706 RCV003333707 RCV003333709 RCV003333710	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Likely pathogenic; Pathogenic	rs1828784075, rs1563980966, rs1554668813, rs1554668814, rs121909330, rs758169026, rs1554668817, rs2490370338, rs900105227, rs863225291, rs864309501, rs864309502, rs121909329, rs121909332, rs121909334 View all (6 more)	RCV001341264 RCV002015462 RCV001908873 RCV001953725 RCV001972632 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES	Likely pathogenic	rs1828721782	RCV001271084	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs2490348146	RCV003153238	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Likely pathogenic; Pathogenic	rs1828784075, rs1563980966, rs1554668813, rs1554668814, rs121909330, rs758169026, rs1554668817, rs2490370338, rs900105227, rs863225291, rs864309501, rs864309502, rs121909329, rs121909332, rs121909334 View all (4 more)	RCV001341264 RCV002015462 RCV001908873 RCV001953725 RCV001972632 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	Likely pathogenic; Pathogenic	rs121909330, rs863225291, rs121909329, rs121909331, rs121909332, rs121909334, rs121909335, rs2490360233, rs1828864269	RCV000196145 RCV000201935 RCV000008989 RCV000008990 RCV000008991 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1	Pathogenic	rs863225291	RCV001271081	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lewy body dementia	Likely pathogenic	rs1828783140	RCV002463580	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VCP-related disorder	Pathogenic; Likely pathogenic	rs121909335, rs2490360302	RCV004532314 RCV003335918	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (44)
ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION	—	GWAS catalog	21684747	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet	24085347, 24085347	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis, Dominant	Benign; Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 6	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y	—	Disgenet, Orphanet Disgenet, Orphanet	25125609	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y	—	CTD, HPO CTD, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA COMPLEMENTATION GROUP G	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	21145000, 21145000	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inclusion Body Myopathy, Dominant	Benign; Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEWY BODY DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS, INCLUSION BODY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar GenCC	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	37883978	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	29693262	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA WITH PAGET DISEASE OF BONE SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	25811541	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VCP-related multisystem proteinopathy	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (290)
Abulia	Abulia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28843399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25830243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10845931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Type Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	22870330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-onset distal myopathy due to valosin containing protein mutation	Distal myopathy	ORPHANET_DG	21684747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-onset distal myopathy due to VCP mutation	Distal myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alexia	Alexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23715207, 28692196	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	10529437		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
LRSAM1	6	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	10	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
GNB4	6	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	10	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
FGD4	6	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	10	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
MARS1	7	["Charcot-marie-tooth disease","Spastic paraplegia","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	11	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","Disgenet (Spastic paraplegia)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
JPH1	6	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	8	["Disgenet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]

VCP (valosin containing protein)

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