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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
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

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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

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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

Show/Hide all (3)

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
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
PF00004	AAA	241 → 371	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	393 → 454	AAA+ lid domain	Domain
PF00004	AAA	514 → 647	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	669 → 714	AAA+ lid domain	Domain
PF09336	Vps4_C	711 → 762	Vps4 C terminal oligomerisation domain	Domain

Sequence

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

Sequence length

806

Interactions

View interactions

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

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Show/Hide Unknown Diseases (44)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★★☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (290)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17622780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18684309, 18759352, 18771956, 21145000, 21725240, 21781992, 21834058, 21892620, 21920633, 22040362, 22078486, 22137929, 22196955, 22210628, 22246868 View all (36 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	21145000, 21920633, 22210628, 22572540, 22739338, 23056506, 23152587, 23349634, 23755159, 24885147, 25125609, 25492614, 25775548, 26475856, 28282387 View all (20 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24085347		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	22572540, 23152587, 25492614, 25618255, 34520757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	23152587, 25618255		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	CLINVAR_DG	15034582, 16247064, 16790606, 16984901, 17889967, 19225410, 19237541, 19704082, 21145000, 21249466, 21816654, 21984748, 22078486, 22270372, 22900631 View all (17 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	UNIPROT_DG	21145000, 23349634		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	GENOMICS_ENGLAND_DG	23881933, 25457024		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	22040362, 22078486, 22137929, 22572540, 23029473, 23152587, 23349634, 23498975, 24215292, 25125609, 25492614, 25618255, 26134898, 27538664, 29310658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	22078486, 22572540, 22789697, 23102936, 23152587, 25457024, 25492614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27515058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	17935506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29752279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	35841038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29310658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30643422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	ORPHANET_DG	23597030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	25492614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17457594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37883978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24096480, 26168958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26168958, 32521270, 37834358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33476933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10563779, 9258449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35562734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39473740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15319251, 31705877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	16984901, 31006653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	34244020, 35306227, 35841038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	16984901, 35306227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34244020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16905170		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	26655237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16905170, 25830243		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y	Charcot-Marie-Tooth Disease	ORPHANET_DG	25125609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y	Charcot-Marie-Tooth Disease	UNIPROT_DG	25125609, 25878907		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	25125609, 25878907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21318260		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30504720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21984748, 23635965, 25582679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	22449146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	21387114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27344168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14760088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27566657, 33476933, 34847375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	22898872, 23029473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28390990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28425440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve compression	Cranial nerve compression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	16621797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	16621797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30504720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	15034582, 22210628, 23349634, 25617006, 25716352, 30005904, 33203472, 35120450, 37834358, 37883978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	15732117, 17457594, 17907600, 18166610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16104845, 16199218, 16247064, 17622780, 17763460, 19380227, 20116073, 20410287, 22105171, 22210628, 22449146, 23140793, 23250913, 23349634, 24215292 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	36329418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	22449146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37883978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	24618559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	15034582, 15732117, 17279000, 17626287, 17935506, 18260132, 18796596, 19237541, 19506019, 19828315, 20512113, 21145000, 21249466, 21643886, 21920633 View all (30 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	21387114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25406314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	25406314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	30055738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	BEFREE	30055738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15328197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31454136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	15131036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	15034582, 15732117, 16222525, 16247064, 16429324, 16783167, 16790606, 16984901, 17224685, 17279000, 17457594, 17591968, 17618707, 17763460, 17889967 View all (69 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	15732117, 16783167, 17224685, 17279000, 17579875, 17591968, 17935506, 18260132, 18796596, 19828315, 21145000, 21249466, 21387114, 21643886, 21920633 View all (35 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	ORPHANET_DG	21145000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia with motor neuron disease	Frontotemporal Dementia With Motor Neuron Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	17702495, 17805587, 18684309, 18771956, 19237541, 19704082, 22355793, 22420316, 22477152, 22739338, 24011641, 29578490		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	BEFREE	16783167, 17279000, 17457594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29743287, 31700049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29743287, 31700049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28423563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	36329418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28390990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35306227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	23790629, 29310658, 30010465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	22728077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	25125609, 26574898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	25125609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20604808, 27561680, 27913212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22449146, 23747512		★★★★★ ★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	15034582, 16104845, 16247064, 16317258, 16419137, 16783167, 16790606, 16984901, 17224685, 17457594, 17935506, 18260132, 18284922, 18796596, 18845250 View all (41 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	ORPHANET_DG	15034582		★★★★★ ★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	UNIPROT_DG	15034582, 15732117, 16247064, 16321991, 17935506, 20104022, 20335036, 20512113, 21822278, 23349634, 25125609, 25878907, 27209344, 27753622, 29804830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	CLINVAR_DG	15034582, 16247064, 16790606, 16984901, 17889967, 19225410, 19237541, 19704082, 21145000, 21249466, 21816654, 21984748, 22078486, 22270372, 22900631 View all (18 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	GENOMICS_ENGLAND_DG	21145000, 21684747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	BEFREE	28939772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	27594680, 28915917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	21387114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37883978	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	34428256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	30954774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	17935506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	22105171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28799247		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18279508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18279508, 27086912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35385564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12560433, 15231524, 22536440, 28526689, 28835517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25970786	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26168958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26112410		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Machado-Joseph Disease	Machado-Joseph Disease	LHGDN	16525503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	20414249, 20604808, 29704548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30664664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24096480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15131036, 22870330, 29693262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29693262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28279065, 31672844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1651587, 18284922, 21383145, 22449146, 22870330, 24878061, 25685910, 26555175, 27086594, 27524292, 28322292, 28451587, 28819009, 28847819, 29211715 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16905170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26168958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30664664		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10563779, 2419904, 28380302, 3754536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	17935506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	37108544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28360103, 28564594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	21145000, 22210628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	17579875, 19884572, 22210628, 23152587, 23635965, 24754450, 37603075, 37883978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	17591968, 19884572, 23152587, 24754450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	25060540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	24377547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24069311, 26720340, 28843399, 30626938, 32817432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28843399, 28878026, 30954557, 31368616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	20116073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28915917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	29311808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	24618559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28425440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15034582, 15732117, 16104845, 16199218, 16222525, 16247064, 16429324, 16783167, 17369820, 17457594, 17763460, 17935506, 18284922, 18796596, 19208399 View all (49 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	15732117, 16247064, 17457594, 17907600, 18166610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	17626287, 21387114, 25617006, 27594680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26506425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26506425, 28216622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing myopathy	Necrotizing myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12560433, 12829673, 15452376, 22870330, 24377547, 25463965, 25830243, 27344168, 28380302, 28819009, 30643422, 6326658, 7927871		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21920633, 29310658, 30584095, 31701538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16317258, 19237541, 21249466, 24878061, 24885147, 25492614, 25775548, 26475856, 27594680, 28322292, 33402676, 34520757, 36789492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15456787, 16317258, 20410307, 23029473, 24878061, 25192599, 27594680, 28322292, 28360103, 28777108, 29037990, 31316150, 31550150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	22105166, 22105171, 22449146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	35841038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	23349634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	23349634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	23412975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15231524, 19356220, 23412975, 30606672		★★★★★ ★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	16247064, 17763460, 19506019, 21249466, 23029473, 23140793, 25149037, 25884947, 26574898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	15034582, 15732117, 16199218, 16222525, 16247064, 16429324, 16783167, 16984901, 17224685, 17457594, 17763460, 17889967, 17935506, 18260132, 18284922 View all (65 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	LHGDN	17457594, 17907600, 18166610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11927012, 25566966, 25874486, 31516594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	11927012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25566966, 25874486, 35841038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	22870330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27729194, 32404140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	16199218, 16247064, 22078486, 22210628, 24838343, 27106764, 30955949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39473740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	32893227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20604808, 21920633, 22900631, 28692196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22900631, 28692196, 29754758, 34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	21920633, 22900631, 32993728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	22900631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	BEFREE	30055738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic girdle amyotrophy	Pelvic girdle amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic girdle muscle atrophy	Pelvic girdle muscle atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	22210628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25582679, 37603075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	26574898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	26574898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	15034582, 15732117, 16222525, 16247064, 16429324, 16783167, 16984901, 17224685, 17279000, 17457594, 17618707, 17763460, 17889967, 17935506, 18260132 View all (52 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	28843399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28843399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28843399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	28451587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16104845, 16199218, 16247064, 17622780, 17763460, 19380227, 20116073, 20410287, 22105171, 22210628, 22449146, 23140793, 23250913, 23349634, 24215292 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	22900631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	ORPHANET_DG	23597030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	BEFREE	22078486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive non-fluent aphasia	Progressive Non-Fluent Aphasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15131036, 22870330, 29693262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29693262		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35841038	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	21318260, 27835930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20097236, 25096051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	30459475	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	31648844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	36735267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	23056506, 25125609, 27165006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	20833645, 23056506, 29310658, 30010465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia-Paget disease of bone syndrome	Spastic Paraplegia-Paget Disease Of Bone Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy Jerash type	Spinal muscular atrophy	Pubtator	22210628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26655237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15328197, 31454136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25463965	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	25463965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31705877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12829673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	24618559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28279065, 31672844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28279065		★★★★★ ★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	BEFREE	24618559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35920704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	22040362, 26208961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	26471729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23715207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	17626287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	24838343		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked myopathy with excessive autophagy	Myopathy With Excessive Autophagy, X-Linked	BEFREE	22040362, 26208961		★★★★★ ★☆☆☆☆ Found in Text Mining only

VCP (valosin containing protein)