VDR (vitamin D receptor)

Gene

• Entrez ID: 7421
• Gene name: Vitamin D receptor
• Gene symbol: VDR
• Synonyms (NCBI Gene): NR1I1, PPP1R163
• Chromosome: 12
• Chromosome location: 12q13.11
• Summary: This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2228570	A>C,G,T	Benign, drug-response	Coding sequence variant, initiator codon variant, missense variant
rs121909790	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121909791	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909792	G>T	Pathogenic	Coding sequence variant, stop gained
rs121909793	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909794	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909795	G>A	Pathogenic	Coding sequence variant, stop gained
rs121909796	C>A	Pathogenic	Coding sequence variant, missense variant
rs121909797	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs121909798	G>C	Pathogenic	Coding sequence variant, missense variant
rs121909799	A>C	Pathogenic	Coding sequence variant, missense variant
rs121909800	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121909801	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121909802	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs267607169	C>T	Pathogenic	Missense variant, coding sequence variant
rs886037890	T>G	Pathogenic	Coding sequence variant, missense variant
rs1057521095	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1592107753	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002080	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002080	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002080	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002080	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002080	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002080	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002080	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT001197	hsa-miR-125b-5p	Luciferase reporter assay, Western blot	19437538
MIRT001197	hsa-miR-125b-5p	Luciferase reporter assay	19437538
MIRT006509	hsa-miR-27b-3p	Immunoblot, Luciferase reporter assay	19581388
MIRT006509	hsa-miR-27b-3p	Immunoblot, Luciferase reporter assay	19581388
MIRT006509	hsa-miR-27b-3p	qRT-PCR, Western blot	22213330
MIRT001197	hsa-miR-125b-5p	qRT-PCR, Western blot	22213330
MIRT721626	hsa-miR-4766-5p	HITS-CLIP	19536157
MIRT721625	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT721624	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT721623	hsa-miR-4731-5p	HITS-CLIP	19536157
MIRT721622	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT721621	hsa-miR-7704	HITS-CLIP	19536157
MIRT721620	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT721619	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT721618	hsa-miR-4279	HITS-CLIP	19536157
MIRT721617	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT721616	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT644439	hsa-miR-548ac	HITS-CLIP	23824327
MIRT644438	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT644437	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT644436	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT644435	hsa-miR-548z	HITS-CLIP	23824327
MIRT644434	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT644433	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT644432	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT644431	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT644430	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT644429	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT644428	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT644427	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT644426	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT644425	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT644424	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT644423	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT644422	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT644421	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT515435	hsa-miR-4438	PAR-CLIP	23446348
MIRT515433	hsa-miR-6748-3p	PAR-CLIP	23446348
MIRT515432	hsa-miR-6749-5p	PAR-CLIP	23446348
MIRT515431	hsa-miR-214-5p	PAR-CLIP	23446348
MIRT515430	hsa-miR-3195	PAR-CLIP	23446348
MIRT515429	hsa-miR-6735-3p	PAR-CLIP	23446348
MIRT515428	hsa-miR-2861	PAR-CLIP	23446348
MIRT515427	hsa-miR-5095	PAR-CLIP	23446348
MIRT515426	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515425	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT001197	hsa-miR-125b-5p	Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	32538430
MIRT721626	hsa-miR-4766-5p	HITS-CLIP	19536157
MIRT721625	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT721624	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT721623	hsa-miR-4731-5p	HITS-CLIP	19536157
MIRT721622	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT721621	hsa-miR-7704	HITS-CLIP	19536157
MIRT721620	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT721619	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT721618	hsa-miR-4279	HITS-CLIP	19536157
MIRT721617	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT721616	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT644439	hsa-miR-548ac	HITS-CLIP	23824327
MIRT644438	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT644437	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT644436	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT644435	hsa-miR-548z	HITS-CLIP	23824327
MIRT644434	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT644433	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT644432	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT644431	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT644430	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT644429	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT644428	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT644427	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT644426	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT644425	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT644424	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT644423	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT644422	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT644421	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT515435	hsa-miR-4438	PAR-CLIP	23446348
MIRT515433	hsa-miR-6748-3p	PAR-CLIP	23446348
MIRT515432	hsa-miR-6749-5p	PAR-CLIP	23446348
MIRT515431	hsa-miR-214-5p	PAR-CLIP	23446348
MIRT515430	hsa-miR-3195	PAR-CLIP	23446348
MIRT515429	hsa-miR-6735-3p	PAR-CLIP	23446348
MIRT515428	hsa-miR-2861	PAR-CLIP	23446348
MIRT515427	hsa-miR-5095	PAR-CLIP	23446348
MIRT515426	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515425	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT755723	hsa-miR-27a-3p, hsa-miR-30b-5p	Luciferase reporter assay	36304947
MIRT1483676	hsa-miR-1208	CLIP-seq
MIRT1483677	hsa-miR-1270	CLIP-seq
MIRT1483678	hsa-miR-153	CLIP-seq
MIRT1483679	hsa-miR-185	CLIP-seq
MIRT1483680	hsa-miR-198	CLIP-seq
MIRT1483681	hsa-miR-214	CLIP-seq
MIRT1483682	hsa-miR-302a	CLIP-seq
MIRT1483683	hsa-miR-302b	CLIP-seq
MIRT1483684	hsa-miR-302c	CLIP-seq
MIRT1483685	hsa-miR-302d	CLIP-seq
MIRT1483686	hsa-miR-302e	CLIP-seq
MIRT1483687	hsa-miR-3065-5p	CLIP-seq
MIRT1483688	hsa-miR-3120-3p	CLIP-seq
MIRT1483689	hsa-miR-3128	CLIP-seq
MIRT1483690	hsa-miR-3185	CLIP-seq
MIRT1483691	hsa-miR-337-5p	CLIP-seq
MIRT1483692	hsa-miR-3619-5p	CLIP-seq
MIRT1483693	hsa-miR-3675-5p	CLIP-seq
MIRT1483694	hsa-miR-372	CLIP-seq
MIRT1483695	hsa-miR-373	CLIP-seq
MIRT1483696	hsa-miR-3936	CLIP-seq
MIRT1483697	hsa-miR-3973	CLIP-seq
MIRT1483698	hsa-miR-3976	CLIP-seq
MIRT1483699	hsa-miR-3978	CLIP-seq
MIRT1483700	hsa-miR-410	CLIP-seq
MIRT1483701	hsa-miR-4251	CLIP-seq
MIRT1483702	hsa-miR-4269	CLIP-seq
MIRT1483703	hsa-miR-4291	CLIP-seq
MIRT1483704	hsa-miR-4303	CLIP-seq
MIRT1483705	hsa-miR-4306	CLIP-seq
MIRT1483706	hsa-miR-4329	CLIP-seq
MIRT1483707	hsa-miR-4422	CLIP-seq
MIRT1483708	hsa-miR-4470	CLIP-seq
MIRT1483709	hsa-miR-4475	CLIP-seq
MIRT1483710	hsa-miR-448	CLIP-seq
MIRT1483711	hsa-miR-4485	CLIP-seq
MIRT1483712	hsa-miR-452	CLIP-seq
MIRT1483713	hsa-miR-4520a-3p	CLIP-seq
MIRT1483714	hsa-miR-4520b-3p	CLIP-seq
MIRT1483715	hsa-miR-4531	CLIP-seq
MIRT1483716	hsa-miR-4640-5p	CLIP-seq
MIRT1483717	hsa-miR-4644	CLIP-seq
MIRT1483718	hsa-miR-4655-5p	CLIP-seq
MIRT1483719	hsa-miR-4668-5p	CLIP-seq
MIRT1483720	hsa-miR-4676-3p	CLIP-seq
MIRT1483721	hsa-miR-4690-5p	CLIP-seq
MIRT1483722	hsa-miR-4691-3p	CLIP-seq
MIRT1483723	hsa-miR-4695-3p	CLIP-seq
MIRT1483724	hsa-miR-4699-3p	CLIP-seq
MIRT1483725	hsa-miR-4704-3p	CLIP-seq
MIRT1483726	hsa-miR-4720-5p	CLIP-seq
MIRT1483727	hsa-miR-4726-5p	CLIP-seq
MIRT1483728	hsa-miR-4729	CLIP-seq
MIRT1483729	hsa-miR-4753-3p	CLIP-seq
MIRT1483730	hsa-miR-4768-5p	CLIP-seq
MIRT1483731	hsa-miR-4772-3p	CLIP-seq
MIRT1483732	hsa-miR-4799-3p	CLIP-seq
MIRT1483733	hsa-miR-513c	CLIP-seq
MIRT1483734	hsa-miR-514b-5p	CLIP-seq
MIRT1483735	hsa-miR-515-5p	CLIP-seq
MIRT1483736	hsa-miR-519a	CLIP-seq
MIRT1483737	hsa-miR-519b-3p	CLIP-seq
MIRT1483738	hsa-miR-519c-3p	CLIP-seq
MIRT1483739	hsa-miR-520a-3p	CLIP-seq
MIRT1483740	hsa-miR-520b	CLIP-seq
MIRT1483741	hsa-miR-520c-3p	CLIP-seq
MIRT1483742	hsa-miR-520d-3p	CLIP-seq
MIRT1483743	hsa-miR-520e	CLIP-seq
MIRT1483744	hsa-miR-548a-5p	CLIP-seq
MIRT1483745	hsa-miR-548ab	CLIP-seq
MIRT1483746	hsa-miR-548ak	CLIP-seq
MIRT1483747	hsa-miR-548b-5p	CLIP-seq
MIRT1483748	hsa-miR-548c-5p	CLIP-seq
MIRT1483749	hsa-miR-548d-5p	CLIP-seq
MIRT1483750	hsa-miR-548h	CLIP-seq
MIRT1483751	hsa-miR-548i	CLIP-seq
MIRT1483752	hsa-miR-548j	CLIP-seq
MIRT1483753	hsa-miR-548w	CLIP-seq
MIRT1483754	hsa-miR-548y	CLIP-seq
MIRT1483755	hsa-miR-559	CLIP-seq
MIRT1483756	hsa-miR-620	CLIP-seq
MIRT1483757	hsa-miR-633	CLIP-seq
MIRT1483758	hsa-miR-642a	CLIP-seq
MIRT1483759	hsa-miR-761	CLIP-seq
MIRT1483760	hsa-miR-9	CLIP-seq
MIRT1483761	hsa-miR-922	CLIP-seq
MIRT1483762	hsa-miR-1224-3p	CLIP-seq
MIRT1483763	hsa-miR-125a-3p	CLIP-seq
MIRT1483764	hsa-miR-125a-5p	CLIP-seq
MIRT1483765	hsa-miR-125b	CLIP-seq
MIRT1483766	hsa-miR-1260	CLIP-seq
MIRT1483767	hsa-miR-1260b	CLIP-seq
MIRT1483768	hsa-miR-1280	CLIP-seq
MIRT1483769	hsa-miR-136	CLIP-seq
MIRT1483770	hsa-miR-1915	CLIP-seq
MIRT1483681	hsa-miR-214	CLIP-seq
MIRT1483771	hsa-miR-3145-3p	CLIP-seq
MIRT1483772	hsa-miR-3151	CLIP-seq
MIRT1483773	hsa-miR-3180-5p	CLIP-seq
MIRT1483690	hsa-miR-3185	CLIP-seq
MIRT1483692	hsa-miR-3619-5p	CLIP-seq
MIRT1483774	hsa-miR-3620	CLIP-seq
MIRT1483775	hsa-miR-3714	CLIP-seq
MIRT1483776	hsa-miR-3915	CLIP-seq
MIRT1483777	hsa-miR-3928	CLIP-seq
MIRT1483778	hsa-miR-3934	CLIP-seq
MIRT1483703	hsa-miR-4291	CLIP-seq
MIRT1483779	hsa-miR-4319	CLIP-seq
MIRT1483780	hsa-miR-4433	CLIP-seq
MIRT1483781	hsa-miR-4446-3p	CLIP-seq
MIRT1483782	hsa-miR-4656	CLIP-seq
MIRT1483783	hsa-miR-4671-5p	CLIP-seq
MIRT1483784	hsa-miR-4685-5p	CLIP-seq
MIRT1483722	hsa-miR-4691-3p	CLIP-seq
MIRT1483725	hsa-miR-4704-3p	CLIP-seq
MIRT1483785	hsa-miR-4716-5p	CLIP-seq
MIRT1483786	hsa-miR-4732-3p	CLIP-seq
MIRT1483787	hsa-miR-4781-3p	CLIP-seq
MIRT1483735	hsa-miR-515-5p	CLIP-seq
MIRT1483788	hsa-miR-544b	CLIP-seq
MIRT1483789	hsa-miR-593	CLIP-seq
MIRT1483790	hsa-miR-640	CLIP-seq
MIRT1483758	hsa-miR-642a	CLIP-seq
MIRT1483791	hsa-miR-665	CLIP-seq
MIRT1483792	hsa-miR-670	CLIP-seq
MIRT1483759	hsa-miR-761	CLIP-seq
MIRT1483793	hsa-miR-764	CLIP-seq
MIRT1483761	hsa-miR-922	CLIP-seq
MIRT1483794	hsa-miR-942	CLIP-seq
MIRT1483681	hsa-miR-214	CLIP-seq
MIRT2145603	hsa-miR-2467-3p	CLIP-seq
MIRT1483688	hsa-miR-3120-3p	CLIP-seq
MIRT2145604	hsa-miR-3158-5p	CLIP-seq
MIRT1483692	hsa-miR-3619-5p	CLIP-seq
MIRT2145605	hsa-miR-378g	CLIP-seq
MIRT1483703	hsa-miR-4291	CLIP-seq
MIRT1483707	hsa-miR-4422	CLIP-seq
MIRT2145606	hsa-miR-4492	CLIP-seq
MIRT2145607	hsa-miR-4498	CLIP-seq
MIRT1483724	hsa-miR-4699-3p	CLIP-seq
MIRT1483725	hsa-miR-4704-3p	CLIP-seq
MIRT1483728	hsa-miR-4729	CLIP-seq
MIRT2145608	hsa-miR-4779	CLIP-seq
MIRT1483735	hsa-miR-515-5p	CLIP-seq
MIRT1483788	hsa-miR-544b	CLIP-seq
MIRT1483758	hsa-miR-642a	CLIP-seq
MIRT1483759	hsa-miR-761	CLIP-seq
MIRT2145609	hsa-miR-762	CLIP-seq
MIRT1483761	hsa-miR-922	CLIP-seq
MIRT2366057	hsa-miR-10a	CLIP-seq
MIRT2366058	hsa-miR-10b	CLIP-seq
MIRT1483676	hsa-miR-1208	CLIP-seq
MIRT2366059	hsa-miR-1263	CLIP-seq
MIRT1483769	hsa-miR-136	CLIP-seq
MIRT2366060	hsa-miR-151-3p	CLIP-seq
MIRT1483679	hsa-miR-185	CLIP-seq
MIRT1483681	hsa-miR-214	CLIP-seq
MIRT2145603	hsa-miR-2467-3p	CLIP-seq
MIRT2366061	hsa-miR-2682	CLIP-seq
MIRT1483688	hsa-miR-3120-3p	CLIP-seq
MIRT2366062	hsa-miR-3123	CLIP-seq
MIRT2366063	hsa-miR-3150b-3p	CLIP-seq
MIRT2366064	hsa-miR-3184	CLIP-seq
MIRT2366065	hsa-miR-326	CLIP-seq
MIRT2366066	hsa-miR-330-5p	CLIP-seq
MIRT2366067	hsa-miR-342-5p	CLIP-seq
MIRT1483692	hsa-miR-3619-5p	CLIP-seq
MIRT2366068	hsa-miR-3689d	CLIP-seq
MIRT2366069	hsa-miR-3920	CLIP-seq
MIRT1483698	hsa-miR-3976	CLIP-seq
MIRT2366070	hsa-miR-423-5p	CLIP-seq
MIRT1483702	hsa-miR-4269	CLIP-seq
MIRT1483703	hsa-miR-4291	CLIP-seq
MIRT1483705	hsa-miR-4306	CLIP-seq
MIRT1483707	hsa-miR-4422	CLIP-seq
MIRT2366071	hsa-miR-4423-3p	CLIP-seq
MIRT1483781	hsa-miR-4446-3p	CLIP-seq
MIRT2366072	hsa-miR-4466	CLIP-seq
MIRT1483709	hsa-miR-4475	CLIP-seq
MIRT2366073	hsa-miR-449c	CLIP-seq
MIRT1483712	hsa-miR-452	CLIP-seq
MIRT1483713	hsa-miR-4520a-3p	CLIP-seq
MIRT1483714	hsa-miR-4520b-3p	CLIP-seq
MIRT2366074	hsa-miR-4639-3p	CLIP-seq
MIRT1483717	hsa-miR-4644	CLIP-seq
MIRT2366075	hsa-miR-4646-5p	CLIP-seq
MIRT2366076	hsa-miR-4651	CLIP-seq
MIRT1483718	hsa-miR-4655-5p	CLIP-seq
MIRT1483782	hsa-miR-4656	CLIP-seq
MIRT2366077	hsa-miR-4663	CLIP-seq
MIRT2366078	hsa-miR-4664-5p	CLIP-seq
MIRT2366079	hsa-miR-4667-5p	CLIP-seq
MIRT1483720	hsa-miR-4676-3p	CLIP-seq
MIRT2366080	hsa-miR-4689	CLIP-seq
MIRT1483721	hsa-miR-4690-5p	CLIP-seq
MIRT1483722	hsa-miR-4691-3p	CLIP-seq
MIRT1483724	hsa-miR-4699-3p	CLIP-seq
MIRT2366081	hsa-miR-4700-5p	CLIP-seq
MIRT1483725	hsa-miR-4704-3p	CLIP-seq
MIRT2366082	hsa-miR-4710	CLIP-seq
MIRT1483785	hsa-miR-4716-5p	CLIP-seq
MIRT2366083	hsa-miR-4721	CLIP-seq
MIRT1483728	hsa-miR-4729	CLIP-seq
MIRT2366084	hsa-miR-4768-3p	CLIP-seq
MIRT2145608	hsa-miR-4779	CLIP-seq
MIRT1483787	hsa-miR-4781-3p	CLIP-seq
MIRT2366085	hsa-miR-4784	CLIP-seq
MIRT2366086	hsa-miR-483-5p	CLIP-seq
MIRT2366087	hsa-miR-501-5p	CLIP-seq
MIRT1483733	hsa-miR-513c	CLIP-seq
MIRT1483734	hsa-miR-514b-5p	CLIP-seq
MIRT1483735	hsa-miR-515-5p	CLIP-seq
MIRT2366088	hsa-miR-570	CLIP-seq
MIRT2366089	hsa-miR-608	CLIP-seq
MIRT2366090	hsa-miR-627	CLIP-seq
MIRT1483757	hsa-miR-633	CLIP-seq
MIRT2366091	hsa-miR-637	CLIP-seq
MIRT1483758	hsa-miR-642a	CLIP-seq
MIRT2366092	hsa-miR-656	CLIP-seq
MIRT2366093	hsa-miR-675	CLIP-seq
MIRT1483759	hsa-miR-761	CLIP-seq
MIRT2366094	hsa-miR-885-3p	CLIP-seq
MIRT1483761	hsa-miR-922	CLIP-seq
MIRT2366095	hsa-miR-924	CLIP-seq
MIRT2366096	hsa-miR-940	CLIP-seq
MIRT1483681	hsa-miR-214	CLIP-seq
MIRT1483682	hsa-miR-302a	CLIP-seq
MIRT1483683	hsa-miR-302b	CLIP-seq
MIRT1483684	hsa-miR-302c	CLIP-seq
MIRT1483685	hsa-miR-302d	CLIP-seq
MIRT1483686	hsa-miR-302e	CLIP-seq
MIRT1483687	hsa-miR-3065-5p	CLIP-seq
MIRT1483692	hsa-miR-3619-5p	CLIP-seq
MIRT1483694	hsa-miR-372	CLIP-seq
MIRT1483695	hsa-miR-373	CLIP-seq
MIRT1483697	hsa-miR-3973	CLIP-seq
MIRT1483700	hsa-miR-410	CLIP-seq
MIRT1483703	hsa-miR-4291	CLIP-seq
MIRT1483725	hsa-miR-4704-3p	CLIP-seq
MIRT1483736	hsa-miR-519a	CLIP-seq
MIRT1483737	hsa-miR-519b-3p	CLIP-seq
MIRT1483738	hsa-miR-519c-3p	CLIP-seq
MIRT1483739	hsa-miR-520a-3p	CLIP-seq
MIRT1483740	hsa-miR-520b	CLIP-seq
MIRT1483741	hsa-miR-520c-3p	CLIP-seq
MIRT1483742	hsa-miR-520d-3p	CLIP-seq
MIRT1483743	hsa-miR-520e	CLIP-seq
MIRT1483744	hsa-miR-548a-5p	CLIP-seq
MIRT1483745	hsa-miR-548ab	CLIP-seq
MIRT1483746	hsa-miR-548ak	CLIP-seq
MIRT1483747	hsa-miR-548b-5p	CLIP-seq
MIRT1483748	hsa-miR-548c-5p	CLIP-seq
MIRT1483749	hsa-miR-548d-5p	CLIP-seq
MIRT1483750	hsa-miR-548h	CLIP-seq
MIRT1483751	hsa-miR-548i	CLIP-seq
MIRT1483752	hsa-miR-548j	CLIP-seq
MIRT1483753	hsa-miR-548w	CLIP-seq
MIRT1483754	hsa-miR-548y	CLIP-seq
MIRT1483755	hsa-miR-559	CLIP-seq
MIRT1483758	hsa-miR-642a	CLIP-seq
MIRT1483759	hsa-miR-761	CLIP-seq
MIRT1483761	hsa-miR-922	CLIP-seq
MIRT1483690	hsa-miR-3185	CLIP-seq
MIRT2441629	hsa-miR-3622a-3p	CLIP-seq
MIRT2441630	hsa-miR-3622b-3p	CLIP-seq
MIRT2441631	hsa-miR-3692	CLIP-seq
MIRT2441632	hsa-miR-4307	CLIP-seq
MIRT2463161	hsa-miR-1253	CLIP-seq
MIRT2463162	hsa-miR-320e	CLIP-seq
MIRT2463163	hsa-miR-323b-3p	CLIP-seq
MIRT2463164	hsa-miR-3619-3p	CLIP-seq
MIRT2463165	hsa-miR-4284	CLIP-seq
MIRT2463166	hsa-miR-4434	CLIP-seq
MIRT2463167	hsa-miR-4516	CLIP-seq
MIRT1483715	hsa-miR-4531	CLIP-seq
MIRT2463168	hsa-miR-4534	CLIP-seq
MIRT2463169	hsa-miR-4709-3p	CLIP-seq
MIRT2463170	hsa-miR-4776-5p	CLIP-seq
MIRT2659576	hsa-miR-105	CLIP-seq
MIRT2659577	hsa-miR-1200	CLIP-seq
MIRT2659578	hsa-miR-1207-3p	CLIP-seq
MIRT2659579	hsa-miR-1207-5p	CLIP-seq
MIRT2659580	hsa-miR-122	CLIP-seq
MIRT1483762	hsa-miR-1224-3p	CLIP-seq
MIRT2659581	hsa-miR-1226	CLIP-seq
MIRT2659582	hsa-miR-1231	CLIP-seq
MIRT2659583	hsa-miR-1238	CLIP-seq
MIRT2463161	hsa-miR-1253	CLIP-seq
MIRT1483766	hsa-miR-1260	CLIP-seq
MIRT1483767	hsa-miR-1260b	CLIP-seq
MIRT2659584	hsa-miR-1267	CLIP-seq
MIRT1483768	hsa-miR-1280	CLIP-seq
MIRT2659585	hsa-miR-1290	CLIP-seq
MIRT2659586	hsa-miR-129-3p	CLIP-seq
MIRT2659587	hsa-miR-1304	CLIP-seq
MIRT2659588	hsa-miR-1343	CLIP-seq
MIRT2659589	hsa-miR-145	CLIP-seq
MIRT2659590	hsa-miR-146b-3p	CLIP-seq
MIRT2659591	hsa-miR-1587	CLIP-seq
MIRT2659592	hsa-miR-1827	CLIP-seq
MIRT2659593	hsa-miR-188-3p	CLIP-seq
MIRT2659594	hsa-miR-192	CLIP-seq
MIRT2659595	hsa-miR-2115	CLIP-seq
MIRT2659596	hsa-miR-215	CLIP-seq
MIRT2145603	hsa-miR-2467-3p	CLIP-seq
MIRT2659597	hsa-miR-3064-3p	CLIP-seq
MIRT2659598	hsa-miR-3064-5p	CLIP-seq
MIRT2659599	hsa-miR-3074-5p	CLIP-seq
MIRT1483771	hsa-miR-3145-3p	CLIP-seq
MIRT2659600	hsa-miR-3148	CLIP-seq
MIRT2659601	hsa-miR-3156-3p	CLIP-seq
MIRT2145604	hsa-miR-3158-5p	CLIP-seq
MIRT1483773	hsa-miR-3180-5p	CLIP-seq
MIRT2659602	hsa-miR-3182	CLIP-seq
MIRT1483690	hsa-miR-3185	CLIP-seq
MIRT2659603	hsa-miR-3189-3p	CLIP-seq
MIRT2659604	hsa-miR-3190	CLIP-seq
MIRT2659605	hsa-miR-3192	CLIP-seq
MIRT2659606	hsa-miR-3194-5p	CLIP-seq
MIRT2659607	hsa-miR-3197	CLIP-seq
MIRT2659608	hsa-miR-323-3p	CLIP-seq
MIRT2366065	hsa-miR-326	CLIP-seq
MIRT2366066	hsa-miR-330-5p	CLIP-seq
MIRT2659609	hsa-miR-33a	CLIP-seq
MIRT2659610	hsa-miR-33b	CLIP-seq
MIRT2366067	hsa-miR-342-5p	CLIP-seq
MIRT2659611	hsa-miR-34c-3p	CLIP-seq
MIRT2659612	hsa-miR-3616-5p	CLIP-seq
MIRT1483774	hsa-miR-3620	CLIP-seq
MIRT2659613	hsa-miR-3647-3p	CLIP-seq
MIRT2659614	hsa-miR-3647-5p	CLIP-seq
MIRT2659615	hsa-miR-3678-3p	CLIP-seq
MIRT1483775	hsa-miR-3714	CLIP-seq
MIRT2145605	hsa-miR-378g	CLIP-seq
MIRT2659616	hsa-miR-382	CLIP-seq
MIRT2659617	hsa-miR-3918	CLIP-seq
MIRT2659618	hsa-miR-4260	CLIP-seq
MIRT1483702	hsa-miR-4269	CLIP-seq
MIRT2659619	hsa-miR-4270	CLIP-seq
MIRT2659620	hsa-miR-4287	CLIP-seq
MIRT2659621	hsa-miR-4288	CLIP-seq
MIRT2659622	hsa-miR-4297	CLIP-seq
MIRT2659623	hsa-miR-4310	CLIP-seq
MIRT2659624	hsa-miR-4314	CLIP-seq
MIRT2659625	hsa-miR-4320	CLIP-seq
MIRT2659626	hsa-miR-4324	CLIP-seq
MIRT2659627	hsa-miR-4325	CLIP-seq
MIRT2659628	hsa-miR-4419a	CLIP-seq
MIRT2659629	hsa-miR-4421	CLIP-seq
MIRT1483780	hsa-miR-4433	CLIP-seq
MIRT2463166	hsa-miR-4434	CLIP-seq
MIRT2659630	hsa-miR-4441	CLIP-seq
MIRT2366072	hsa-miR-4466	CLIP-seq
MIRT2659631	hsa-miR-4469	CLIP-seq
MIRT2659632	hsa-miR-4487	CLIP-seq
MIRT2145606	hsa-miR-4492	CLIP-seq
MIRT2145607	hsa-miR-4498	CLIP-seq
MIRT2659633	hsa-miR-4505	CLIP-seq
MIRT2659634	hsa-miR-4510	CLIP-seq
MIRT2463167	hsa-miR-4516	CLIP-seq
MIRT1483715	hsa-miR-4531	CLIP-seq
MIRT2463168	hsa-miR-4534	CLIP-seq
MIRT2659635	hsa-miR-4635	CLIP-seq
MIRT1483716	hsa-miR-4640-5p	CLIP-seq
MIRT2366075	hsa-miR-4646-5p	CLIP-seq
MIRT2366076	hsa-miR-4651	CLIP-seq
MIRT1483782	hsa-miR-4656	CLIP-seq
MIRT2659636	hsa-miR-4662a-5p	CLIP-seq
MIRT2366078	hsa-miR-4664-5p	CLIP-seq
MIRT2366079	hsa-miR-4667-5p	CLIP-seq
MIRT2659637	hsa-miR-4670-3p	CLIP-seq
MIRT1483783	hsa-miR-4671-5p	CLIP-seq
MIRT2659638	hsa-miR-4675	CLIP-seq
MIRT2659639	hsa-miR-4676-5p	CLIP-seq
MIRT2659640	hsa-miR-4683	CLIP-seq
MIRT2659641	hsa-miR-4685-3p	CLIP-seq
MIRT2659642	hsa-miR-4687-5p	CLIP-seq
MIRT2366081	hsa-miR-4700-5p	CLIP-seq
MIRT2659643	hsa-miR-4722-3p	CLIP-seq
MIRT1483727	hsa-miR-4726-5p	CLIP-seq
MIRT2659644	hsa-miR-4727-5p	CLIP-seq
MIRT2659645	hsa-miR-4741	CLIP-seq
MIRT2659646	hsa-miR-4747-5p	CLIP-seq
MIRT2659647	hsa-miR-4752	CLIP-seq
MIRT2659648	hsa-miR-4763-3p	CLIP-seq
MIRT2659649	hsa-miR-483-3p	CLIP-seq
MIRT2659650	hsa-miR-512-5p	CLIP-seq
MIRT2659651	hsa-miR-513a-5p	CLIP-seq
MIRT2659652	hsa-miR-516a-3p	CLIP-seq
MIRT2659653	hsa-miR-520d-5p	CLIP-seq
MIRT2659654	hsa-miR-524-5p	CLIP-seq
MIRT1483788	hsa-miR-544b	CLIP-seq
MIRT2659655	hsa-miR-573	CLIP-seq
MIRT2659656	hsa-miR-575	CLIP-seq
MIRT2659657	hsa-miR-580	CLIP-seq
MIRT2659658	hsa-miR-581	CLIP-seq
MIRT1483789	hsa-miR-593	CLIP-seq
MIRT2659659	hsa-miR-604	CLIP-seq
MIRT2366089	hsa-miR-608	CLIP-seq
MIRT2659660	hsa-miR-632	CLIP-seq
MIRT2366091	hsa-miR-637	CLIP-seq
MIRT2659661	hsa-miR-647	CLIP-seq
MIRT1483791	hsa-miR-665	CLIP-seq
MIRT2366093	hsa-miR-675	CLIP-seq
MIRT2145609	hsa-miR-762	CLIP-seq
MIRT2366094	hsa-miR-885-3p	CLIP-seq
MIRT2366096	hsa-miR-940	CLIP-seq
MIRT1483794	hsa-miR-942	CLIP-seq
MIRT2659576	hsa-miR-105	CLIP-seq
MIRT2659577	hsa-miR-1200	CLIP-seq
MIRT2659578	hsa-miR-1207-3p	CLIP-seq
MIRT2659579	hsa-miR-1207-5p	CLIP-seq
MIRT1483762	hsa-miR-1224-3p	CLIP-seq
MIRT2659581	hsa-miR-1226	CLIP-seq
MIRT2463161	hsa-miR-1253	CLIP-seq
MIRT1483766	hsa-miR-1260	CLIP-seq
MIRT1483767	hsa-miR-1260b	CLIP-seq
MIRT2659584	hsa-miR-1267	CLIP-seq
MIRT1483768	hsa-miR-1280	CLIP-seq
MIRT2659585	hsa-miR-1290	CLIP-seq
MIRT2659586	hsa-miR-129-3p	CLIP-seq
MIRT2659587	hsa-miR-1304	CLIP-seq
MIRT2659588	hsa-miR-1343	CLIP-seq
MIRT2659589	hsa-miR-145	CLIP-seq
MIRT2659590	hsa-miR-146b-3p	CLIP-seq
MIRT2659591	hsa-miR-1587	CLIP-seq
MIRT2659592	hsa-miR-1827	CLIP-seq
MIRT1483679	hsa-miR-185	CLIP-seq
MIRT2659593	hsa-miR-188-3p	CLIP-seq
MIRT2659594	hsa-miR-192	CLIP-seq
MIRT2694970	hsa-miR-1972	CLIP-seq
MIRT2659595	hsa-miR-2115	CLIP-seq
MIRT1483681	hsa-miR-214	CLIP-seq
MIRT2659596	hsa-miR-215	CLIP-seq
MIRT2145603	hsa-miR-2467-3p	CLIP-seq
MIRT2659597	hsa-miR-3064-3p	CLIP-seq
MIRT2659598	hsa-miR-3064-5p	CLIP-seq
MIRT2659599	hsa-miR-3074-5p	CLIP-seq
MIRT1483771	hsa-miR-3145-3p	CLIP-seq
MIRT2659600	hsa-miR-3148	CLIP-seq
MIRT2659601	hsa-miR-3156-3p	CLIP-seq
MIRT2145604	hsa-miR-3158-5p	CLIP-seq
MIRT1483773	hsa-miR-3180-5p	CLIP-seq
MIRT2659602	hsa-miR-3182	CLIP-seq
MIRT1483690	hsa-miR-3185	CLIP-seq
MIRT2659604	hsa-miR-3190	CLIP-seq
MIRT2659605	hsa-miR-3192	CLIP-seq
MIRT2659606	hsa-miR-3194-5p	CLIP-seq
MIRT2659607	hsa-miR-3197	CLIP-seq
MIRT2659608	hsa-miR-323-3p	CLIP-seq
MIRT2366065	hsa-miR-326	CLIP-seq
MIRT2366066	hsa-miR-330-5p	CLIP-seq
MIRT2366067	hsa-miR-342-5p	CLIP-seq
MIRT2659611	hsa-miR-34c-3p	CLIP-seq
MIRT2659612	hsa-miR-3616-5p	CLIP-seq
MIRT1483692	hsa-miR-3619-5p	CLIP-seq
MIRT1483774	hsa-miR-3620	CLIP-seq
MIRT2659613	hsa-miR-3647-3p	CLIP-seq
MIRT2659614	hsa-miR-3647-5p	CLIP-seq
MIRT2659615	hsa-miR-3678-3p	CLIP-seq
MIRT1483775	hsa-miR-3714	CLIP-seq
MIRT2145605	hsa-miR-378g	CLIP-seq
MIRT2659616	hsa-miR-382	CLIP-seq
MIRT2659617	hsa-miR-3918	CLIP-seq
MIRT2694971	hsa-miR-3929	CLIP-seq
MIRT1483702	hsa-miR-4269	CLIP-seq
MIRT2659619	hsa-miR-4270	CLIP-seq
MIRT2659620	hsa-miR-4287	CLIP-seq
MIRT2659622	hsa-miR-4297	CLIP-seq
MIRT1483705	hsa-miR-4306	CLIP-seq
MIRT2659623	hsa-miR-4310	CLIP-seq
MIRT2659624	hsa-miR-4314	CLIP-seq
MIRT2659625	hsa-miR-4320	CLIP-seq
MIRT2659626	hsa-miR-4324	CLIP-seq
MIRT2659627	hsa-miR-4325	CLIP-seq
MIRT2659628	hsa-miR-4419a	CLIP-seq
MIRT2694972	hsa-miR-4419b	CLIP-seq
MIRT2659629	hsa-miR-4421	CLIP-seq
MIRT1483780	hsa-miR-4433	CLIP-seq
MIRT2463166	hsa-miR-4434	CLIP-seq
MIRT2659630	hsa-miR-4441	CLIP-seq
MIRT2366072	hsa-miR-4466	CLIP-seq
MIRT2659631	hsa-miR-4469	CLIP-seq
MIRT2694973	hsa-miR-4478	CLIP-seq
MIRT2659632	hsa-miR-4487	CLIP-seq
MIRT2145606	hsa-miR-4492	CLIP-seq
MIRT2145607	hsa-miR-4498	CLIP-seq
MIRT2659633	hsa-miR-4505	CLIP-seq
MIRT2659634	hsa-miR-4510	CLIP-seq
MIRT2463167	hsa-miR-4516	CLIP-seq
MIRT2694974	hsa-miR-4530	CLIP-seq
MIRT1483715	hsa-miR-4531	CLIP-seq
MIRT2463168	hsa-miR-4534	CLIP-seq
MIRT2659635	hsa-miR-4635	CLIP-seq
MIRT1483716	hsa-miR-4640-5p	CLIP-seq
MIRT1483717	hsa-miR-4644	CLIP-seq
MIRT2366075	hsa-miR-4646-5p	CLIP-seq
MIRT2366076	hsa-miR-4651	CLIP-seq
MIRT1483782	hsa-miR-4656	CLIP-seq
MIRT2659636	hsa-miR-4662a-5p	CLIP-seq
MIRT2366078	hsa-miR-4664-5p	CLIP-seq
MIRT2366079	hsa-miR-4667-5p	CLIP-seq
MIRT2659637	hsa-miR-4670-3p	CLIP-seq
MIRT1483783	hsa-miR-4671-5p	CLIP-seq
MIRT2659638	hsa-miR-4675	CLIP-seq
MIRT2659639	hsa-miR-4676-5p	CLIP-seq
MIRT2659641	hsa-miR-4685-3p	CLIP-seq
MIRT2659642	hsa-miR-4687-5p	CLIP-seq
MIRT1483721	hsa-miR-4690-5p	CLIP-seq
MIRT2366081	hsa-miR-4700-5p	CLIP-seq
MIRT2659643	hsa-miR-4722-3p	CLIP-seq
MIRT1483727	hsa-miR-4726-5p	CLIP-seq
MIRT2659644	hsa-miR-4727-5p	CLIP-seq
MIRT2659645	hsa-miR-4741	CLIP-seq
MIRT2659646	hsa-miR-4747-5p	CLIP-seq
MIRT2659647	hsa-miR-4752	CLIP-seq
MIRT2659648	hsa-miR-4763-3p	CLIP-seq
MIRT2659649	hsa-miR-483-3p	CLIP-seq
MIRT2659650	hsa-miR-512-5p	CLIP-seq
MIRT2659651	hsa-miR-513a-5p	CLIP-seq
MIRT2659652	hsa-miR-516a-3p	CLIP-seq
MIRT2659653	hsa-miR-520d-5p	CLIP-seq
MIRT2659654	hsa-miR-524-5p	CLIP-seq
MIRT1483788	hsa-miR-544b	CLIP-seq
MIRT2659655	hsa-miR-573	CLIP-seq
MIRT2659656	hsa-miR-575	CLIP-seq
MIRT2659658	hsa-miR-581	CLIP-seq
MIRT1483789	hsa-miR-593	CLIP-seq
MIRT2659659	hsa-miR-604	CLIP-seq
MIRT2366089	hsa-miR-608	CLIP-seq
MIRT2366091	hsa-miR-637	CLIP-seq
MIRT2659661	hsa-miR-647	CLIP-seq
MIRT1483791	hsa-miR-665	CLIP-seq
MIRT2366093	hsa-miR-675	CLIP-seq
MIRT1483759	hsa-miR-761	CLIP-seq
MIRT2145609	hsa-miR-762	CLIP-seq
MIRT2366094	hsa-miR-885-3p	CLIP-seq
MIRT2366096	hsa-miR-940	CLIP-seq
MIRT1483794	hsa-miR-942	CLIP-seq
MIRT2366075	hsa-miR-4646-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CDX2	Unknown	11450701;16604479;16883525;19960008
EZH2	Unknown	23424038
JUN	Activation	15930183
KLF4	Repression	22677193
MED1	Unknown	17229570
PIAS4	Unknown	22564762
POU1F1	Activation	17456792
SMAD3	Activation	17471513
SNAI1	Repression	15322538;16804902;20138990
SNAI2	Repression	18485278;20138990
SNW1	Unknown	15225769
SP1	Unknown	15664452
STAT3	Repression	23424038
TP63	Activation	22521434
TP63	Unknown	16462763;17716971
TP73	Unknown	17716971
WT1	Activation	23362234
WT1	Unknown	11050081;11773605
ZNF224	Activation	23362234

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17426122
GO:0000785	Component	Chromatin	IDA	12016314
GO:0000785	Component	Chromatin	ISA
GO:0000902	Process	Cell morphogenesis	IMP	17223341
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001501	Process	Skeletal system development	IEA
GO:0003677	Function	DNA binding	IDA	11891224
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	17426122
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003707	Function	Nuclear steroid receptor activity	IDA	10678179, 12016314, 17082781
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IDA	16549446, 17082781
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IMP	28698609
GO:0005499	Function	Vitamin D binding	IBA
GO:0005515	Function	Protein binding	IPI	9632709, 9653119, 10409738, 10744685, 10866662, 12403843, 12840015, 17254542, 17426122, 20089040, 20227041, 20413580, 21119599, 21478865, 21988832, 22179700, 25910212, 27601169, 27728806, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16207705
GO:0005634	Component	Nucleus	IDA	15589699, 17082781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007595	Process	Lactation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16549446
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	17223341, 28885847
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IMP	17223341
GO:0030154	Process	Cell differentiation	IBA
GO:0030501	Process	Positive regulation of bone mineralization	NAS	27184385
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IBA
GO:0035435	Process	Phosphate ion transmembrane transport	IDA	32354638
GO:0038185	Process	Nuclear receptor-mediated bile acid signaling pathway	IDA	12016314
GO:0038186	Function	Bile acid nuclear receptor activity	IDA	12016314, 32354638
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	20171278
GO:0042789	Process	MRNA transcription by RNA polymerase II	ISS
GO:0043235	Component	Receptor complex	IDA	17426122
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045217	Process	Cell-cell junction maintenance	IDA	36008380
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IMP	17082781
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11891224
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20171278
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17082781, 17254542
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046697	Process	Decidualization	IEP	16720713
GO:0046872	Function	Metal ion binding	IEA
GO:0046965	Function	Nuclear retinoid X receptor binding	IDA	28698609
GO:0046965	Function	Nuclear retinoid X receptor binding	IPI	17426122
GO:0048384	Process	Retinoic acid receptor signaling pathway	IMP	28698609
GO:0050892	Process	Intestinal absorption	IEA
GO:0060057	Process	Apoptotic process involved in mammary gland involution	IEA
GO:0060058	Process	Positive regulation of apoptotic process involved in mammary gland involution	IEA
GO:0060745	Process	Mammary gland branching involved in pregnancy	IEA
GO:0070561	Process	Vitamin D receptor signaling pathway	IDA	9267036
GO:0070561	Process	Vitamin D receptor signaling pathway	IDA	16549446
GO:0070561	Process	Vitamin D receptor signaling pathway	IEA
GO:0070561	Process	Vitamin D receptor signaling pathway	IMP	28698609
GO:0070561	Process	Vitamin D receptor signaling pathway	ISS
GO:0070564	Process	Positive regulation of vitamin D receptor signaling pathway	IDA	20171278
GO:0070564	Process	Positive regulation of vitamin D receptor signaling pathway	ISS
GO:0070644	Function	Vitamin D response element binding	IBA
GO:0070644	Function	Vitamin D response element binding	IDA	17426122
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	17426122
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	22179700
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:1902098	Function	Calcitriol binding	IDA	10678179, 12016314
GO:1902098	Function	Calcitriol binding	IMP	28698609
GO:1902121	Function	Lithocholic acid binding	IDA	12016314
GO:1903412	Process	Response to bile acid	IDA	12016314, 32354638
GO:2000186	Process	Negative regulation of phosphate transmembrane transport	IDA	36008380

Other IDs

• MIM: 601769
• HGNC: 12679
• e!Ensembl: ENSG00000111424

Protein

• UniProt ID: P11473
• Protein name: Vitamin D3 receptor (VDR) (1,25-dihydroxyvitamin D3 receptor) (Nuclear receptor subfamily 1 group I member 1)
• Protein function: Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:10678179, PubMed:15728261, PubMed:16913708, PubMed:28698609, PubMed:37478846). Enters the nucleus upon vitamin D3 binding w
• PDB: 1DB1, 1IE8, 1IE9, 1KB2, 1KB4, 1KB6, 1S0Z, 1S19, 1TXI, 1YNW, 2HAM, 2HAR, 2HAS, 2HB7, 2HB8, 3A2I, 3A2J, 3A3Z, 3A40, 3A78, 3AUQ, 3AUR, 3AX8, 3AZ1, 3AZ2, 3AZ3, 3B0T, 3CS4, 3CS6, 3KPZ, 3M7R, 3OGT, 3P8X, 3TKC, 3VHW, 3W0A, 3W0C, 3W0Y, 3WGP, 3WWR, 3X31, 3X36, 4G2I, 4ITE, 4ITF, 5GT4, 5V39, 5YSY, 5YT2, 7QPP, 8IQN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	22 → 91	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	216 → 406	Ligand-binding domain of nuclear hormone receptor	Domain

• Sequence:

  MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTC
  PFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSL
  RPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSG
  DSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK
  VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDV
  TKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLS
  NTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLE
  VFGNEIS

• Sequence length: 427

Pathways

KEGG:

Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Mineral absorption
Tuberculosis
Chemical carcinogenesis - receptor activation

Reactome:

Vitamin D (calciferol) metabolism
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Rickets	Likely pathogenic; Pathogenic	rs121909796	RCV004798889	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitamin D-dependent rickets type II with alopecia	Pathogenic; Likely pathogenic	rs201106427, rs752414831, rs980041568, rs776088779, rs121909790, rs121909791, rs121909792, rs121909802, rs121909794, rs121909795, rs121909796, rs121909797, rs121909798, rs121909800, rs121909801, rs1592107753, rs267607169, rs2540017090, rs886037890, rs2539969247, rs2540017785, rs1057521095	RCV001843694 RCV001843695 RCV002246806 RCV004796759 RCV000008186 RCV000008187 RCV000008188 RCV000008189 RCV000008191 RCV000008192 RCV000008193 RCV000008194 RCV000008195 RCV000008197 RCV000008198 RCV000008199 RCV000008200 RCV003134705 RCV000243398 RCV000251590 RCV003236657 RCV003486511 RCV004689734 RCV001843570	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT ESOPHAGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONNEVIE-ULLRICH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STENOSIS OF AORTIC VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FABRY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial adenomatous polyposis 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERPARATHYROIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPOPHOSPHATEMIC RICKETS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, PRIMARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ESOPHAGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC STENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYMPTOMS OF DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURNER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VDR-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN D DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-dependent rickets	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VITAMIN D-DEPENDENT RICKETS, TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN D-DEPENDENT RICKETS, TYPE 2A	—	CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	30220112		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	30220112		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	25839036, 31616375		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	25839036	Associate	★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	18647306, 30315595		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15459215, 18385010		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	8639462		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12460926, 27144333, 28765039, 30074149		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	LHGDN	15145445		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29966312		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	19667149		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	12444895, 28765037		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17257827, 17487855, 28489590		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28027912		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	24951052, 25910066, 28212604, 30344947		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22564539		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10441653, 11208387, 14652238, 15066918, 20145122, 25873367, 31351131		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16097046		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	11489753, 11552708, 11751444, 12869402, 15066918, 16097046, 18470879, 22193171, 27978548, 30150667		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	26904920		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	22522591		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15459215, 18385010		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	22672495, 27606438		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	14691685, 16403954, 21115105, 23911750, 29101648		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	25649962		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	11808760, 12200969, 16304445, 21764034, 24102630		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28160341		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	10418998, 11713240, 11918709, 12403843, 15190891, 15246940, 16831920, 17078924, 17609203, 17822494, 19049339, 19169476, 19500727, 19815438, 19819974, 20362670, 20512927, 21073129, 21693169, 21812032, 23026218, 25060608, 25147982, 25708797, 26323657, 26422470, 27932380, 28013309, 28698609, 29127362, 29243839		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	LHGDN	12403843, 16753019		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	CTD_human_DG	1338926, 22466564		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	15246940, 17822494, 29243839		★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	BEFREE	16946620, 18694980, 19049339		★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	BEFREE	11564167		★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia universalis	Pubtator	11564167, 14676077, 21982945	Associate	★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	CTD_human_DG	1338926, 22466564		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17592215, 21309754, 23076256, 27772736, 31126722	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	25059118		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17592215, 22306846, 23076256		★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	22144214	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	22207005		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12896855, 26190642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplasia	Anaplasia	BEFREE	11179736, 28918929		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	22511602		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	27856225, 29728923		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	CTD_human_DG	1338926, 22466564		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	12324918, 25713999		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	LHGDN	12324918		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	34562771, 37123164	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	34261187	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	14530911, 26815041, 27778467		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	30961641	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	31714887		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	32727130	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	27239732	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27239732, 27283745		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	11359741		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	11359741	Associate	★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	27018192		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18628697, 21610492, 23198772		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	29128193	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	23945129, 9613338		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	31011579, 35126351	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	33067526	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10343528, 27906437, 27915349, 28335003, 30796319, 31011579, 33390394, 33916688, 34925313, 34932627, 34977255, 35048212, 35126351, 37858254, 38160213, 39202369	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	17763859		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15282199, 15282200, 15651992, 15663557, 17224129, 19247692, 19622139, 19745160, 19852851, 20124605, 21613960, 21810276, 22051697, 22532985, 23200756, 24007655, 24082782, 24885630, 25267113, 25353337, 25845986, 26011658, 26750596, 27088875, 27551963, 28407346, 28590769, 29456680, 29901144, 30542464, 31541492, 31654764, 31838478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	15282199, 15282200, 15651992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	15651992, 19247692, 19622139, 19852851, 21103062, 21613960, 21810276, 22051697, 26399222, 29384117, 31541492, 34610433, 36839181, 37407930, 39201708, 39894560, 40579017	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	22740028	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18628697, 21610492, 23198772		★☆☆☆☆ Found in Text Mining only
Atrichia	Atrichia	BEFREE	11564167		★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	17609203		★☆☆☆☆ Found in Text Mining only
Atrichia with Papular Lesions	Atrichia with papular lesions	Pubtator	21982945	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	38004107	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	37285328	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29497301		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26073892, 29581796	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26073892, 27155524, 28891930, 29581796, 30410834, 30466210, 31589956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	28738753, 28891930, 29581796, 29777458, 31589956		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	11786968, 15683428, 22484578, 25268393, 31379001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10884183, 10907990, 11786968, 12444895, 12843155, 12846052, 16100768, 16278149, 16710576, 17943423, 18361940, 18506225, 18694980, 18752562, 19286443, 19376604, 19956544, 21047669, 21168462, 22004974, 22117179, 22960018, 23044313, 23190644, 23359064, 23482605, 23849224, 24370753, 24803230, 24880677, 25661837, 25817800, 26152509, 26686945, 26986782, 27018192, 27043843, 27052925, 27409400, 27412293, 27861345, 28000549, 28070798, 28335003, 28786260, 29446731, 30924084		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	16278149, 17943423		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	16278149, 22117179, 23849224, 26986782, 28335003, 28426778, 34380509, 34977255, 35267984	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	31531369		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17650449		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21076051, 31361973		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	22664272, 25910066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	24951052, 25910066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behavior Disorders	Behavior Disorders	BEFREE	31589956		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	21820934, 24880677, 25421258, 27409400, 29388852, 30730049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	31709782	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	10389917		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10667581, 10705205, 11248649, 12053022, 12644831, 14991752, 15083213, 16461080, 16626332, 16708371, 21133615, 24606449, 24990700		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	11972530, 21269569	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	29991466		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	23042374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23042374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	35279108	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17378851, 26615419, 28947955, 29857077, 30972950		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	17378851		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	10457270, 11316004, 11972530, 15237001, 17363400, 25180713, 27906437, 30929318, 33306336, 37375641, 9286761, 9461106, 9625456	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	16988190, 20124547, 20920864, 23212404, 27309378, 27818277, 29415666		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	11028447, 11122154, 22971535, 24841655, 25407264, 30150596, 30887870, 40149488	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	20144597, 30461062		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32513132	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	14528100		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	28488893	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20831823, 23691496, 29287594	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23691496		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	29287594		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	17456792		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10223184, 10344739, 10545416, 10597185, 10680726, 10775888, 10996432, 11230990, 11461072, 11473365, 11850224, 12150447, 12566913, 12650704, 12710998, 12957667, 14749534, 15083068, 15328186, 15664452, 15867263, 15911240, 16214913, 16280049, 16608396, 16609009, 16791482, 16828283, 17130524, 17244366, 17377416, 17723171, 17855696, 17934201, 18067661, 18419802, 18485278, 18587672, 18719092, 18971120, 19054766, 19105801, 19124512, 19145484, 19331145, 19403841, 19588543, 19667145, 20013077, 20431345, 20440542, 20831823, 21348760, 21693626, 21828234, 22109882, 22130867, 22213328, 22480149, 22494987, 22867716, 22892281, 22984610, 23142286, 23277283, 23300018, 23341935, 23393347, 23554871, 23821301, 23900677, 23904261, 24037913, 24048755, 24248540, 24252436, 24297042, 24318991, 24568506, 24769568, 25064221, 25261645, 25280486, 25510900, 25560187, 25736056, 25799416, 25804799, 25849303, 26517870, 26631034, 26817718, 26925631, 26934299, 27149457, 27407090, 27693451, 27973439, 28061456, 28213567, 28242709, 28427429, 28460457, 28469103, 28481952, 28632174, 28710021, 28746837, 28780723, 28847749, 28957314, 29022486, 29072133, 29287594, 29434472, 29555976, 29707142, 30254488, 30309792, 30579121, 30699973, 30833174, 30977263, 30995345, 31167402, 31350967, 31358030, 31395070, 31521173, 31731733, 7881099, 9613456		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16280049, 22892281		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10680726, 10775888, 11461072, 11983707, 14994376, 16886688, 17244366, 18067661, 18419802, 18485278, 18719092, 19054766, 19105801, 19331145, 19667157, 20431345, 20440542, 20831823, 21119599, 21283672, 22108646, 22130867, 22480149, 22690899, 22892281, 22984610, 23393347, 23554871, 24252436, 25261645, 25421379, 25736056, 25799416, 25804799, 25849303, 26517870, 26521212, 26631034, 27120467, 27407090, 27530324, 27973439, 28061456, 28469103, 28481952, 28632174, 28780723, 28830874, 28957314, 29022486, 29287594, 29529900, 30678432, 30699973, 31167402, 31350967, 31358030, 31395070, 31623531, 31731733, 32986367, 33126731, 33917614, 34003583, 34727991, 35485672, 36014861, 36641651, 36813159, 37147988, 38384038, 39272208, 7662588, 7757962	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28427429, 31450894	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchial Hyperreactivity	Bronchial hyperreactivity	Pubtator	15651992	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	24885630		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	17703412, 21837802, 24019226, 24105653, 29253610		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	29253610	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24796371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	33273558	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bruck syndrome	Bruck Syndrome	BEFREE	27146342		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	28088270		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	26903713	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	22874762, 27184385	Associate	★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	11092401	Associate	★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium Metabolism Disorders	BEFREE	12814692, 17419705		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18483332, 25195132, 28489590, 32626760, 33761087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35485672	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11147170, 11179736, 16804902, 20831823, 22213313		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	10433950, 15077124, 22677152, 26068789, 34003583	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	24732451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20572305, 23586065, 25541958, 26219465, 30637779, 31864292, 33941198, 35996514, 38066559	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17378851, 26615419, 28947955, 29857077, 30972950		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19644412, 22564539, 23566834, 24068566, 24996287, 25519225, 26654942, 28411367, 29726119, 30686249, 31333781		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	22331715		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18079052, 19223536, 19904266, 23262379, 31001917, 32572587	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26224368	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	12402975, 18246496, 19753122, 21931993, 25945350, 26521212, 27174575, 29659618, 31723229, 33390783	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26068789, 36813159, 38123121, 8642046	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10433950, 11337940, 12490310, 15077124, 21732987, 22213323, 22677152, 25207374, 26068789, 27127116, 28177523		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	31366499		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17913968, 18079052, 18086759, 19223536, 19904266, 20473893, 23262379, 23320576, 23784456, 23826116, 23873178, 24004063, 24078452, 24136742, 24870722, 29113037, 29239065, 29476020, 31001917		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	27502545		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27502545	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	26165414	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28216152		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17653231, 18826852, 19667238, 21063202, 21682758, 23173643, 24582179, 25201890, 25498546, 25499229, 27052925, 30683435, 31359379, 9761785		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18491455		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23173643, 30087217, 34578994, 35033017, 35955825, 36520094, 37375641, 38597392, 38608754	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37025056	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	27555526		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	29329504		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	40556084	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	10343528, 11467890	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	25367052, 30135595		★☆☆☆☆ Found in Text Mining only
Cavitary Optic Disc Anomalies	Cavitary optic disc anomalies	Pubtator	28700743	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	10720115, 16278149, 28738753		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	16278149		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	16278149, 39445578	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	15713801	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19344698		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	CTD_human_DG	25498546		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	30103977		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	12017307		★☆☆☆☆ Found in Text Mining only
Cervical spondylosis	Cervical spondylosis	BEFREE	20144597		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12017307		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	27502545	Associate	★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	27502545, 31508781	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15459215, 18385010, 30533396		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	23200756, 25353337, 26750596, 27551963, 29456680		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	17487855, 23375797, 28256614, 29356898		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17487855	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28426778	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	19106115, 25798860	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	23240054, 25798860, 30419252		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15829977, 19133314		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	LHGDN	19133314		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	30714636, 31663450, 37375641	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30714636		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	24618509		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10478142, 11576941, 11598396, 17914260, 20422622, 20722565, 23198772, 25434518, 27323177, 27844184, 29415666, 29458003, 29794776, 30058766, 31822280, 8840304, 9335382, 9461106		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	11576941, 14730505, 17653231, 17914260, 18826852, 20124547, 20303786, 21063202, 24384877, 24618509, 25324357, 25499229, 25988943, 27818277, 27989797, 28429545, 28460623, 28511692, 28848172, 28976989, 29304245, 29307660, 29362665, 29415666, 29608804, 29668990, 29748907, 30058766, 30329020, 31370809, 8840304, 9335382		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	29432829		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CTD_human_DG	12446453		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30718230		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18258629, 21653927, 28803336, 31278070, 31427443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis	Periodontitis	BEFREE	14572874, 15455736, 17848979, 18316854, 19335080, 19684957, 19892918, 21198767, 21764034, 24102630, 25795245, 26505378, 27491013, 30083974, 30234384, 30755190		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	17848979		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	17848979, 18316854, 19684957, 25795245, 26505378, 30760334	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22522591, 31682785		★☆☆☆☆ Found in Text Mining only
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	BEFREE	29966830		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	16949927		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27772736, 28426778, 30570020	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29101064		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	27772736	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17962355, 23945234, 25192497, 25813397, 26159695, 27915991, 28472309, 29228157, 31361973		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	29462384	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	10896912, 30929318, 31972611, 33362389, 34239273, 35946880, 37891214, 39415526, 40076474	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	30429108	Inhibit	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	16949927		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11147170, 11456232, 15037631, 15322538, 15577288, 15770204, 16180015, 16203744, 16425262, 16614118, 16965239, 18628249, 18843020, 19502595, 19706847, 19802011, 20086113, 20138990, 21342487, 21858154, 22529698, 22852885, 23206285, 25192497, 25541970, 25873367, 26904920, 27601169, 28027912, 28189050, 28765616, 31231490, 31596728		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	20145122	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12899539, 17257827, 19701245, 27130351, 34651346	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15037631, 18628249		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15770204, 21890490, 25873367		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39494323	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11179736, 11506951, 12807755, 15066918, 15252846, 15577288, 16019132, 16425262, 16788818, 17237289, 17243190, 17694420, 17882409, 18086783, 18583126, 18618252, 18709640, 19052755, 19706842, 19789368, 19795209, 20043299, 20086113, 20558521, 21132374, 21378269, 21801808, 22046258, 22167329, 22529698, 23424038, 24075799, 24289585, 24510435, 24568525, 24670869, 24903766, 24998544, 25002714, 25195132, 25227839, 25773805, 26224799, 26260259, 27053631, 27309378, 27736940, 27913313, 27915991, 28009432, 28658114, 28765616, 29067439, 29278636, 29560132, 29719203, 29719581, 29953646, 29981368, 30150667, 30171794, 30793399, 31434255, 31534963		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10450176, 15037631, 16936639, 17694420, 18086783, 18515093, 18628249, 19502595, 19662683, 19706847, 19789368, 20043299, 20138990, 21084270, 21378269, 22046258, 22108803, 23423976, 24289585, 24510435, 24670869, 24920642, 24998544, 25195132, 25227839, 25541970, 26260259, 27053631, 27309378, 27736940, 28009432, 28765616, 29067439, 29719581, 30923017, 31434255, 31534963, 31596728, 32626760, 32900990, 33440610, 34651346, 36572352, 39201651, 7883226	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15577288, 16019132, 17882409, 18583126, 18618252, 18709640		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	18470879, 19502595, 20138990		★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	23984350		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	11196660		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	24597698, 29493287		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	27145372	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	17487855, 22300961, 28256614		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	26219465, 29465575	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	18288556, 19219433		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	10905383		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12653873, 28814738, 29444238, 30714636		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	24376526		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	34977255	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12402975, 17593089, 17707062, 18246496, 19667145, 19753122, 21931993, 24609903, 25945350, 26521212, 27174575, 29659618, 29970659, 31242814, 31729097		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11359741, 11678976, 19563249, 21610492, 23352876, 24729966, 26643870, 27227912, 28351026, 28739397, 29176261, 31359379, 31793694, 9761785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	11359741, 11678976, 11716989, 12588283, 19563249, 21610492, 23352876, 24729966, 26643870, 26724524, 27227912, 28351026, 28739397, 29176261, 29738868, 30138371, 31359379, 31793694, 9761785		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29176261, 31793694, 33564343, 33863283, 35478145, 35751324, 36190985, 36882686	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	23840567	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11359741, 11678976, 12454321, 19563249, 21610492, 23352876, 23840567, 24729966, 26643870, 27227912, 28351026, 28739397, 29108239, 9761785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	30388935		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10896912, 15282199, 15684874, 16009674, 16450309, 18752562, 20736230, 22467262, 23945234, 25707738, 26000293, 26513524, 27913273, 29718408, 29788141, 30429108, 30719077, 31589971		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10896912, 20736230, 24084050, 25707738, 27053850, 28335003, 30929318, 31589971, 37891214, 39458479, 40076474	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	15225766, 16990805, 18183598, 18816636, 19008093, 21365644, 25334067, 26521212, 28835228, 28884047, 29106699, 30004989		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30852378		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10662878, 10902746, 11824954, 12360016, 15334463, 18288556, 19073371, 22393163, 23500379, 24497541, 24603077, 24803230, 28167299, 30155592, 30574409, 31011579, 9218501, 9259424, 9506753, 9811048		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16507122		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	17962355		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	30103977		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	27472568, 28697775, 29259981, 31930121, 34269228	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	11773605		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	22205149, 26393465		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24060611	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	28636576	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29775091		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	27164626	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Seborrheic	Seborrheic dermatitis	Pubtator	39336541	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	16880407, 23034014, 27164626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	11348471, 27164626, 30220112		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	25649962		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36556929	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26945655	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	17598904, 18288556, 33413534	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10868975, 11887173, 12454321, 14572874, 16340785, 17211561, 17848979, 20099993, 21975377, 22777106, 23485859, 24582179, 25899017, 28130181, 28739347, 29176261, 29849865, 30412764		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	21663527, 26448018, 29128634, 31096931, 31341914, 31651513, 32407388, 33596840, 34609237, 34959770, 37836571	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25028176	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10868975, 11729524, 11887173, 12454321, 14572874, 16340785, 17211561, 17848979, 20099993, 21975377, 22777106, 22814767, 23485859, 24582179, 25899017, 28130181, 28739347, 28851298, 29176261, 29849865, 30412764		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17848979, 23160722, 26323470, 29112142, 34610433, 34932627, 35859479, 36364874, 37025056	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29176261	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	12003670, 16258158, 16278149, 19411183, 19956544, 20736230, 22888618, 22960018, 23721405, 24517634, 26405068, 28976992, 29061729, 29417618, 30692241, 30845908, 34260558, 35267984	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18821289, 20967696, 23226566, 24517634, 25016144, 26458343, 26699871, 27706649, 27834325, 28811597, 28868946, 29066872, 29795525, 31121922, 31793694, 32127856, 32542627, 33567588, 34932627, 35478145, 35859479, 38233797, 39201651	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30246029	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10792336, 10868975, 10884183, 10907990, 11134121, 11678976, 11887173, 12003670, 12173074, 12444895, 12457456, 12482639, 12520517, 12843155, 14641002, 14735147, 15035974, 15448105, 15678787, 15899948, 16258158, 16278149, 16753019, 16806146, 16905645, 17129633, 17130562, 17130574, 17389020, 17959356, 17985306, 18161000, 18361940, 18552362, 18694980, 19286443, 19411183, 19453387, 19734102, 19783860, 19956103, 19956544, 21538164, 21584699, 21714463, 22361322, 22814767, 22946667, 22960018, 23209686, 23721405, 24325596, 24370753, 24517634, 24603699, 24742873, 25448747, 25576905, 26109216, 26772150, 27939971, 28232367, 28976992, 29417618, 29506625, 29552033, 30826568, 30845908, 30905826, 9267994, 9797903		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	17985306		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11275948, 11454514, 11678976, 11729524, 11887173, 12786678, 14714273, 17211561, 19186074, 20511061, 20727043, 21764620, 22219324, 22245613, 22322482, 22535393, 22814767, 23226566, 23352876, 23506721, 24517634, 24680778, 25016144, 25501168, 25706239, 25899017, 26323470, 26346470, 26453801, 26458343, 26699871, 26724524, 26784653, 27052925, 27100371, 27440697, 27706649, 27834325, 28323045, 28388281, 28739347, 28794851, 28868946, 29066872, 29422234, 29562806, 29738868, 29754817, 29795525, 30246029, 31793694, 9740163		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	14714273		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	31373850		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	37845735	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	27561793		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34735495, 34852178, 35634488, 9461106	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19783860, 20504837, 22245613, 22322482, 22777106, 23123403, 24862218, 27706649, 28664547, 28703918, 28848172, 28851298, 29308676, 30287151, 30315926, 31415769		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	29738868		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	11914750, 15899948, 17211561, 25899017, 27891515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	11914750, 15899948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	35213542, 37845735	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	19499989, 20860424, 22511602, 22690899		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	31243261		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	26393465, 31243261	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	31243261		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	32896986	Inhibit	★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	35213542	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	16905557, 24015038, 26400282		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	33813457	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	28161223		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29066872, 30119682		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	29066872, 30119682, 35197176	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	22777106, 25016144		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	16880407, 23034014, 24730053, 27164626		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28703134		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	26458343	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	28707894		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17913968		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24732451, 34937505	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17913968, 21277927, 24135500, 26398313, 31333100		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	34155552, 34937505	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	33273558	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	15663557		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20500803, 26528998, 29549592		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26528998, 35807853	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	26528998	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Benign Psychomotor, Childhood	Epilepsy	CTD_human_DG	18534255		★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	CTD_human_DG	18534255		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	18534255, 26528998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	CTD_human_DG	18534255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18079052, 18086759, 19223536, 19904266, 23262379, 29476020, 31001917		★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	24880677		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	14760115, 24381141, 28212604		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	14760115, 24381141, 24951052		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	14760115, 28166722, 28212604, 37898838	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	11199331, 17127824, 31827258		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	18278558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fabry Disease	Fabry disease	LHGDN	18278558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fahr's disease	Fahr's disease	Pubtator	27184385	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	11369766, 11386849, 12211444, 12403843, 1336301, 15190891, 15308610, 16424674, 1652893, 16753019, 16946620, 17071612, 17078924, 17106204, 17609203, 18827005, 19049339, 19523546, 19815438, 19921089, 20511055, 21073129, 21693169, 21812032, 21860566, 22145479, 22145480, 22322599, 23026218, 23128575, 23482605, 24246681, 24859502, 24885630, 24917549, 25060608, 25573344, 25708797, 26422470, 27864003, 28013309, 28301319, 29127362, 29949513, 30555810, 7586652, 7828346, 8392085, 8961271, 9284761, 9379138, 9495519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	17078924, 19049339, 2174914, 21812032, 21860566, 26153892, 29127362, 29949513, 36405761, 9495519	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	LHGDN	18827005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	ORPHANET_DG	9284761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	10987658		★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	28926322	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	24951052, 25910066, 28212604		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29514138, 30248338, 30905785, 31506976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	29750155, 29761652, 30248338, 35807853	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	29684027, 29750155, 29935100		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	19932096		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25134788, 25268393, 30683615, 31565578		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	19499989		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25078595		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	24188043		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	25910066	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	17264302	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	27915988		★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	BEFREE	20566739		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21192842		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21192842	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	19784695, 20419464, 20920864		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	25978039	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	20419464, 30498352		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	22213325, 29765521		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	31471919, 8726384		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	31471919	Associate	★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	21823528, 23155691, 31686401		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	27889775		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27435453, 31196627		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	27435453	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	27435453	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	27435453		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24584679, 28943436		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35091793	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24584679, 28943436, 30937698		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22740028, 23691496, 24408013, 24584679, 26521212, 31593305		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26521212	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	26610845	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft vs Host Disease	Graft-versus-host disease	Pubtator	31043390	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	36341397	Inhibit	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	LHGDN	18312595		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	19005482, 22548720, 31043390		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10884183, 10907990, 11134121, 15104566, 16100768, 16279845, 17506475, 18506225, 18782354, 21803714, 25046415, 29594051, 30924084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	16100768, 17506475, 25046415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	LHGDN	17506475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	29949513	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	16721822, 18279374, 23732374, 25046415, 25817800, 27043843, 28134349, 28660994, 31531369		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	LHGDN	16721822		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	16721822, 25046415, 28660994	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	15861040		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	36902107	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	23984350	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	25988943		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27502545	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	12653873, 25984539, 30714636, 34578994	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28814738, 29444238		★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	24500905	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	9922985	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	32727130	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25245883, 31864292	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis B Chronic	Hepatitis b	Pubtator	31864292	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	29385741, 29465575, 31086078, 37511164, 38066559	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	26725771, 38066559	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	19667148, 37375641	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11684548, 12324918, 22672495, 27606438		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	22672495, 30961641, 32513132	Associate	★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	31471674		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11684548, 12324918		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	16949927		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24376526, 35257799	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	39812362	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	11033842, 16048257, 16101412, 18180267, 20200930, 24135137, 24754474, 26681795, 27588937, 28591703, 28814738, 30298663, 30579121		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	37242266	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	24763863	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	22551951, 25448744, 28710799, 29754817, 30287151		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	34421816	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	38015195	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	10441653, 10478142, 10504487, 10508794, 10690903, 10843188, 11033842, 11522087, 11598396, 28814738		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	10504487, 10672140, 11044218, 11703583, 29415666	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	LHGDN	12656660, 16213262, 16738533		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	10672140, 23418495, 37103067, 9625456	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	11044218, 12369780, 23552627, 25180713, 29415666, 29949513, 33306336, 9844148	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	12234290	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	10323401, 10441653, 10672140, 11589681, 12444900, 23418495, 23660642, 29794776, 7489414, 9070272, 9177380, 9625456, 9661591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	10843188, 11703583, 12369780, 12649542, 16084056, 17200160, 17653231, 18826852, 20303786, 20383754, 22976524, 23073920, 23246677, 24384877, 25180713, 25294851, 26323657, 27989797, 28429545, 28443031, 28623033, 28814738, 28841848, 29190607, 29305902, 29415666, 29526777, 29659895, 29767854, 30273386, 30411503, 30535217, 31303501, 9461106, 9740163, 9844148		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	LHGDN	12369780, 12649542, 15848611		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	21346722		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	30461062	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11335187, 21521263, 23262750, 25196087, 29795187, 30087217, 33186385, 34421816, 34578994, 34610433, 35866196, 36364874, 36520094, 38597392	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	37025056	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	11335187, 21521263, 22535393, 23128575, 23262750, 25196087, 25500899, 25988943, 30087217, 31389312, 31653516, 31696497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	11335187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	10905383, 11028447, 18506225		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	11028447	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	34008880	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	20422622, 24618509, 35033017	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	22144214		★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	29949513	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemic seizures	Hypocalcemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemic vitamin D-resistant rickets	Hypocalcemic Vitamin D-Resistant Rickets	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	11257727, 16370560		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	10478142, 9335382		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39276275	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	18827005		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Hypophosphatemic rickets	Pubtator	26908058	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	16753019, 27864003, 29127362		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	35843716	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24316428	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31287590	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	10232686, 10435676, 15213319, 15491743, 19929616, 25394514, 7873746		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	25649962		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30461062	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31218132		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	15225772, 18180267, 26152509, 29101064		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	22671537		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27772736, 30570020		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26458343, 30221569	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	30221569	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10896912, 12428072, 15684874, 16450309, 18194505, 18694980, 18752562, 21401893, 21818054, 22085500, 24782048, 25192497, 25813397, 26000293, 26159695, 27601169, 27913273, 27915991, 29112157, 29228157, 29718408, 30289450, 30429108, 30719077, 30804707, 30929318, 31139192		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	10896912, 25684939, 27053850, 28335003, 30429108, 30929318, 33165606, 36341397, 36556929, 37834314, 39415526, 40076474	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	22610818		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29775091		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19501823, 21082232, 23755911, 26458343, 28617856, 31651513, 38233797, 39656229	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	28918929		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	11224872, 12429765, 12689684, 14644861, 16648751, 20144597, 20367178, 23209686, 23500379, 25006683, 26281980, 26342701, 26772150, 27797588, 27939971, 29316495, 29467039, 29987250, 30084796, 30155592, 30309807, 30905826, 31768839, 9854746		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	25006683, 27149110, 29467039, 29569696, 29987250	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	20009418, 24810167, 27149110, 30356314, 31127184, 40244065	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	23209686, 26772150, 27939971, 30905826		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	27149110	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24939880		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	33447990	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	24060611	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25498546		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	21073120		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	12375338, 24415299, 30128913		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11050002		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	35915233	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	18647306		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	10232686, 12018632, 12542560, 12814692, 15213319, 15735395, 19887834, 26107257, 26945655, 29549381, 30701705, 31212049, 31822280		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	LHGDN	18336098		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10773761, 20504837, 20727043, 23065277, 26064952, 26311058, 29446731, 31822280		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	23065277, 24060611, 30087217, 36226529	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	10412040, 11169007, 29305902, 29458003		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	10504487, 20422622, 20722565, 24618509, 27323177, 29415666, 30087217, 39624014, 9461106	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	11044218, 27605961	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30864841		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10478142, 11576941, 11598396, 15887856, 17914260, 20422622, 20722565, 23198772, 25434518, 27323177, 29415666, 29458003, 29794776, 30058766, 31822280, 8840304, 9335382, 9461106		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	17914260		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	16949927		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	18246496	Associate	★☆☆☆☆ Found in Text Mining only
Lactose Intolerance	Lactose Intolerance	BEFREE	28738753		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	38567579	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	20422622, 23198772, 24618509, 25499229		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	9751364	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	23814095, 25625804, 30478352, 33952298, 36014877	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	24174578	Inhibit	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	21192842		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	21192842	Associate	★☆☆☆☆ Found in Text Mining only
Leishmaniasis Cutaneous	Leishmaniasis	Pubtator	37319132	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	15381816, 16965356, 30481178, 31636627, 34143211, 35462022	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	16965356, 20650301, 22170299, 25890006, 28323068, 29150278, 30481178, 9841838		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10775888, 17418144, 17485214	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17418144		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19005482, 29165303, 30508646		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	21846776, 24763502	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	17520689, 24166051, 26969398, 27144333, 29966306, 32872475	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12460926, 26969398, 27144333, 28635660, 28765039, 29966306, 30074149, 31245853		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	23975061, 27613009, 29316495, 31127184, 31768839		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	22612324, 30399574		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	31623531	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16236546, 19693091, 20572305, 22677193, 22984610, 23155244, 23586065, 25541958, 28703134, 29356898, 29432829, 29561429, 30257386, 30326825, 30637779, 31086078, 31682785, 31830994		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	20572305, 22522591, 30218108, 31682785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	30218108, 35996514, 38066559	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	20572305	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	28146070	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	32727130	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	20572305		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26219465, 30218108, 31864292, 32727130, 37511164	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	37511164	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16236546, 22984610, 30326825		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	12429765, 23975061, 27613009, 29316495, 31127184, 31768839		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	10837203, 18492342, 20435872, 27931333		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	LHGDN	18492342		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17119052		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20955794, 22564539, 25519225, 29726119, 31326626, 37921568, 8642046	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21489244	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26654942		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	25661837		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16507161, 20736230, 23065277, 27861345, 27915349, 34977255, 36360253	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36732450	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	25661837		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10773761, 11898916, 12064837, 16507161, 20473502, 21110115, 21993390, 22004974, 22692397, 22801788, 23065277, 23945129, 24057183, 24212677, 24321519, 24803230, 25661837, 26712498, 27861345, 27915349, 28063200, 28285414, 28799838, 29230954, 29468338, 30691345, 31042126, 31104216, 31823770		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	11898916, 16507161		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	11898916, 22004974, 24057183, 27861345, 28799838, 30691345		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	27861345, 28527290	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25661837		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22511602	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	32513132	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	21076051		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17650449, 17653830, 21076051, 22544453		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	17653830		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	17650449, 17653830, 21076051		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28636576		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	15861040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	23691496		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10223184, 10344739, 10545416, 10597185, 10680726, 10775888, 10996432, 11042697, 11230990, 11461072, 11473365, 11850224, 12150447, 12566913, 12650704, 12710998, 12957667, 14749534, 15083068, 15328186, 15664452, 15867263, 15911240, 16214913, 16280049, 16608396, 16609009, 16791482, 16828283, 17130524, 17244366, 17377416, 17723171, 17855696, 17934201, 18067661, 18419802, 18485278, 18587672, 18719092, 18971120, 19054766, 19105801, 19124512, 19145484, 19331145, 19403841, 19588543, 19667145, 20004077, 20013077, 20431345, 20440542, 20831823, 21348760, 21693626, 21828234, 22109882, 22130867, 22213328, 22480149, 22494987, 22867716, 22892281, 22984610, 23142286, 23277283, 23300018, 23341935, 23393347, 23554871, 23821301, 23900677, 23904261, 24037913, 24048755, 24248540, 24252436, 24297042, 24318991, 24568506, 24769568, 25064221, 25261645, 25280486, 25510900, 25560187, 25736056, 25799416, 25804799, 25849303, 26517870, 26631034, 26817718, 26925631, 26934299, 27149457, 27407090, 27693451, 27973439, 28061456, 28213567, 28242709, 28427429, 28460457, 28469103, 28481952, 28579119, 28632174, 28710021, 28746837, 28780723, 28847749, 28957314, 29022486, 29072133, 29287594, 29434472, 29555976, 29707142, 30254488, 30309792, 30579121, 30699973, 30833174, 30977263, 30995345, 31167402, 31350967, 31358030, 31395070, 31521173, 31731733, 7881099, 9613456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16280049, 22892281		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	17913968		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	14760115, 24381141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25078595		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28031008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	18246496, 24297042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26219465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19644412, 22564539, 23566834, 24068566, 24996287, 25519225, 26654942, 28411367, 29726119, 30686249, 31333781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	22612324, 23189278, 30399574		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17913968, 18086759, 19223536, 19904266, 20473893, 23262379, 23320576, 23784456, 23826116, 23873178, 24004063, 24078452, 24136742, 24870722, 25882760, 29113037, 29239065		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12649563, 25558828, 25616697, 25799011, 30358420		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10101249, 10344739, 10504001, 10597185, 10642433, 10650802, 10667581, 10680726, 10705205, 10987658, 11389055, 11789558, 11920955, 12053022, 12181642, 12540499, 12644831, 12694466, 12727815, 14693728, 14713753, 14991752, 15050735, 15065089, 15083213, 15298953, 15368470, 15503828, 15711606, 15717311, 15824177, 15897695, 15958597, 16243370, 16267836, 16600714, 16626332, 16708371, 16815628, 17010601, 17164384, 17388667, 17440943, 17932346, 18281521, 18483391, 18483761, 18849534, 19124512, 19164469, 19255064, 19400699, 19667145, 19861519, 19961572, 20053187, 20184087, 20466759, 20687218, 21358824, 21537045, 21664243, 21703046, 21887707, 22193519, 22323358, 22473304, 22499501, 22661288, 22710747, 23098689, 23129590, 23167358, 23579488, 23807674, 24120391, 24344024, 24755043, 24825850, 24926821, 25494645, 25520061, 25750310, 25824742, 27553621, 27788484, 28222630, 28423553, 28591703, 28811844, 28944088, 29088772, 29109096, 29181077, 29467956, 29910622, 30122987, 30334420, 31194807, 31212954, 31243105, 8797574, 8998186, 9027366, 9299455, 9492054, 9563471, 9610787, 9751364		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	20347977		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	16950800, 17627246, 18647306, 24342142, 24408013, 24499465, 24771013, 25207361, 25378147, 27058533, 29165303		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26105695, 28465245, 30666644, 31287793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20860424, 26907966		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17378851, 26615419, 28947955, 29857077, 30972950		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	10389917		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10690530, 10765127, 11179736, 11230990, 11456232, 12759576, 14749534, 15252846, 15368355, 15664452, 15770204, 15829977, 16101412, 16214913, 16462763, 16614118, 16626332, 17244366, 17593089, 18180267, 18689403, 18694980, 18755215, 18844852, 19105801, 19331145, 19403841, 19437538, 19446468, 19644412, 19667145, 19737544, 19779497, 19861519, 19932096, 19961572, 20736230, 20860424, 20920864, 20952745, 21365644, 21537045, 21703046, 22213323, 22213325, 22984562, 23087083, 23189278, 23519839, 23544077, 23554871, 23649760, 23748283, 23911725, 24120391, 24297042, 24408013, 24510435, 24584679, 24638155, 24754474, 24939880, 24951052, 24996287, 25053622, 25195132, 25207361, 25378147, 25494645, 25738688, 25771722, 25849303, 25873367, 25882760, 25887475, 26287424, 26364161, 27052925, 27309378, 27913313, 28288905, 28301870, 28325259, 28362172, 28423519, 28465245, 28489590, 28739681, 29034815, 29067439, 29080633, 29106699, 29113037, 29423673, 29432829, 29476020, 30059751, 30193216, 30254488, 30268505, 30334420, 30579121, 30606768, 30654005, 30995345, 31167402, 31366499, 31489901, 31596728, 8797574, 9290702, 9761785		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	12017307		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11147170, 11456232, 15037631, 15322538, 15577288, 15770204, 16180015, 16203744, 16425262, 16614118, 16965239, 18628249, 18843020, 19502595, 19706847, 19802011, 20086113, 20138990, 21342487, 21514270, 21858154, 22529698, 22852885, 23206285, 25192497, 25541970, 25873367, 26904920, 27601169, 28027912, 28189050, 28765616, 31231490, 31596728		★☆☆☆☆ Found in Text Mining only
Malignant Vaginal Neoplasm	Malignant Vaginal Neoplasm	BEFREE	29113037		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	10720115		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	38353502	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16280049, 22892281		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14749534, 18067661, 18419802, 18719092, 19124512		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	14994376, 15867263, 16828283, 19331145, 22498493, 23341935, 23554871, 24080249, 27407090, 28632174, 30579121, 31358030		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16280049, 22892281		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16280049, 22892281		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	29106699, 30004989		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10209963, 10690530, 11230990, 15225766, 15225804, 15238985, 16950800, 16990805, 17223867, 18183598, 18816636, 19105801, 19615888, 19667145, 19679055, 21365644, 21612999, 22213330, 22576141, 23413917, 24638155, 25207361, 25778322, 25887475, 26521212, 27792059, 28218743, 28607807, 28676457, 28884047, 28990310, 29106699, 29249122, 30004989, 30200275, 30944611, 31287590, 31690667		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15238985, 18183598, 19105801, 19667161, 21292298, 21612999, 22576141, 23413917, 24922634, 25334067, 26521212, 28990310, 30200275, 31235702, 31287590, 34843679, 35092374, 35838947, 36813159, 39456696, 8769954	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16990805, 17223867		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	16990805, 18183598, 24922634, 26521212	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	23691496		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	23691496	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22205149, 26393465		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33133014	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25060549, 28901272, 30087217		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37375641, 37432296	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	18821289, 21663527, 23755911, 23855914, 25106919, 29669566, 29795187, 30045441, 31870342, 34008880, 34578994, 35282461, 36364874, 36520094	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	24060638	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	11887173, 18821289, 18958772, 21663527, 23755911, 23855914, 24680778, 25106919, 28822353, 29555202, 29669566, 30045441, 30166978		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28884047, 31287590		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	23984350		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	23984350, 37553799	Associate	★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	23984350	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27772736		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28612095		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31261027	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	22805623, 25685788		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37006074	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37006074	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37242229	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28088270		★☆☆☆☆ Found in Text Mining only
Multifocal breast carcinoma	Multifocal breast carcinoma	BEFREE	31731733		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19729047, 9070272		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20920864, 23453529, 28001444, 28380424, 28669663, 31172589		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28380424	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10465499, 10884183, 10907990, 10967184, 11115787, 12846052, 16076630, 18289005, 18653739, 18689381, 19178954, 19383647, 19393206, 19758194, 19800081, 19817701, 19965563, 20007432, 20502725, 20530326, 21309754, 21440908, 21664963, 21752397, 21816760, 22029942, 22085500, 22127897, 22595971, 22805623, 22947263, 23212404, 23334593, 23359064, 23401126, 23840333, 24067280, 24711208, 24803230, 24998351, 25376135, 25685788, 25853421, 25854779, 25892553, 26466946, 26506927, 26540116, 27049563, 27338176, 27423580, 28355272, 28385183, 28576565, 28601283, 28780323, 28836398, 29072967, 29110148, 29331875, 29589202, 29593729, 30941131, 31677540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	16076630, 20736230, 21309754, 21545713, 22595971, 22848563, 25685788, 25853421, 26540116, 28355272, 29416220, 30941131, 33541415, 33833274, 34877984, 37686183	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18653739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	25853421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	16076630	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	25853421		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	29072967		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	17371163	Associate	★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	27558075		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	27336155	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	30718230		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16207551, 26699871, 30273386		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	26699871, 33863283	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	29444238		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26423691, 31252402		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	21357399, 27921098, 30018147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	21357399, 27435453	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	BEFREE	25649962, 28042053		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	25649962	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	29066872, 35213542, 38233797	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27895321, 30388935		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21788694		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	30461062	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	10389917		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10433950, 10690903, 10765127, 11050002, 12017307, 12444900, 12759576, 15225766, 15238985, 15252846, 15368355, 15503828, 15754319, 15867263, 16203744, 16609009, 16804902, 16949927, 17003089, 17243190, 17257827, 18419802, 18470879, 18694980, 18849534, 18992263, 19054766, 19105801, 19499989, 19662683, 19667145, 19802011, 20145122, 20860424, 21132374, 21537045, 21669251, 22022386, 22242137, 22331715, 22564539, 22939842, 22984610, 23337117, 23375797, 23635474, 24242708, 24342142, 24499465, 24825850, 24926821, 24951052, 25207368, 25207372, 25560187, 25873367, 26260259, 26631034, 26654942, 26934299, 27053631, 27407090, 27606438, 27788484, 28460457, 28526240, 28579119, 28589382, 28591703, 28710021, 28746837, 28811844, 28835228, 28847749, 28944088, 29106699, 29423673, 29434472, 29659618, 30004989, 30299316, 30299542, 30344947, 30579121, 30606768, 30995345, 31287793, 31306552, 31358030, 31434255, 31783150		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	22004974		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11373341		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	10232686, 12018632, 12542560, 12814692, 15213319, 15735395, 19887834, 26107257, 26945655, 29549381, 30701705, 31212049, 31822280		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	26945655	Associate	★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	15735395		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	22170372	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21309754, 22897631	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23880018		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22306846		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32295184	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17592215, 22897631, 9613338	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17592215, 22842395, 22947263, 30830277, 30863943		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28738753		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	30299316		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	30299316		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	30299316		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25134788, 30248338, 30683615, 30832722, 31589177, 31810868		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17119052, 18936471, 22159250, 23522953, 26654942, 27669215, 30018118		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	30478352		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	14751420		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11275948, 11454514, 18958772, 19960008, 20431993, 21840998, 22551951, 23103831, 23800102, 24582179, 25020064, 25517289, 25706239, 26346470, 26881316, 28617856, 28787727, 28830368, 28868946, 28978869, 29032145, 29112142, 29343214, 29514138, 29935184, 29982250, 30412764, 30975133, 31682593, 31813936		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	12162507, 18821289, 25020064, 25517289, 26323470, 28617856, 28787727, 28830368, 28868946, 28978869, 29112142, 29343214, 29795525, 30975133, 31652924, 34578994, 34936251, 35712242, 36364874, 37848505, 9041056	Associate	★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	12195069, 18628697		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	14997007, 15176999, 15389972, 15618361, 19020788		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	10902746, 16101324, 16507122, 22393163, 31011579	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	18288556	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	10902746, 34073132, 9218501	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	21884812, 28161531		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	30447692	Associate	★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	17363400	Associate	★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	14691685, 16403954, 21115105, 23911750, 29101648		★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	Pubtator	16403954	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	33306336	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	10367040, 10457270, 10505806, 10525708, 10577298, 10611163, 11122154, 11151078, 11251690, 11316004, 11684540, 11744805, 12653873, 12792298, 12968672, 14717945, 15225828, 15455736, 16355284, 18316854, 18506225, 19151030, 20124547, 22570981, 22923289, 25407264, 26393357, 27906437, 28429555, 29107736, 29942284, 30963970, 7572323, 7853953, 8725180, 8765980, 8806247, 9286761, 9506753, 9598881, 9600794, 9625456, 9914315		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10234586, 10323246, 10367040, 10505806, 10525708, 10591837, 10597185, 10605626, 10689545, 10707958, 10720115, 10884183, 10907990, 11069192, 11134121, 11204438, 11224872, 11257727, 11440415, 11489147, 11716989, 11729524, 11846330, 11942896, 12016463, 12037619, 12154394, 12162507, 12169981, 12173309, 12200969, 12525466, 12608943, 12689684, 14527203, 15018490, 15040830, 15083068, 15237001, 15316258, 15645083, 15739035, 15744035, 15861036, 15969245, 16252240, 16355284, 16447061, 16769262, 16908916, 16988190, 17264402, 17371163, 17659758, 18194505, 18518851, 18976159, 19151030, 19255718, 19290791, 19609483, 19629616, 19800081, 19903038, 20354343, 20419464, 21130756, 21651652, 21714463, 22311020, 22956254, 22971535, 23054016, 23065268, 23070909, 23134477, 23271131, 23911750, 23975234, 24156276, 24530824, 24682357, 25407264, 25784778, 26078251, 26165414, 26379431, 26393357, 26970179, 27914610, 28161223, 28719357, 29425808, 29559350, 29624920, 29755291, 29921374, 30039758, 30268505, 30498352, 30574409, 30624097, 31448632, 7489414, 7608271, 8530619, 8703580, 8725180, 8765980, 8797574, 9041056, 9069156, 9259424, 9299455, 9461106, 9506753, 9525336, 9556070, 9564174, 9706225, 9751364, 9797903, 9801730, 9841838		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	10234586, 10320522, 10404016, 11204438, 12868700, 15237001, 15316258, 15744035, 16101324, 16252240, 16355284, 17371163, 20354343, 21228504, 21397016, 21545713, 22971535, 23070909, 23985982, 25407264, 25764158, 25784778, 26078251, 26165414, 26379431, 28222408, 28488893, 30150596, 31448632, 31887189, 33542170, 33806559, 34698098, 36672934, 36714573, 36980815, 38098042, 40149488, 7787536, 9041056, 9461106, 9525336, 9751364	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	16447061, 17371163, 18976159		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis Postmenopausal	Osteoporosis	Pubtator	8806247	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	12154394, 15237001, 19903038, 25407264, 25603555, 25764158, 29343720, 29922235, 8725180, 8765980, 8806247, 9286761, 9914315		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	LHGDN	12673591		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17412493, 32916897, 8076631	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17547532		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	1846564, 22213321, 25483621, 30568875, 31352041, 31471674, 8076631		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	30718230		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	23639864		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19223536	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17913968, 18086759, 19223536, 19904266, 20473893, 23262379, 23320576, 23784456, 23826116, 23873178, 24004063, 24078452, 24136742, 24870722, 29113037, 29239065		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18086759		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19223536, 19904266, 20473893, 23262379, 23320576, 32572587, 33820921	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33227893	Inhibit	★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	15176999, 15389972, 15618361		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25558828, 25616697, 25799011, 30358420		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12649563		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	28182873		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25314074, 25558828, 25616697, 25799011, 27325858, 30107003, 31062731	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29966312		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	29966312, 33879686	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	37604222	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25090635, 29407979		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26907966, 28223310, 28589382, 29553126, 29702263, 30486759		★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	36828304	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10323401, 11208387, 12444900, 17003089, 19729047, 23660642, 23913941, 9070272, 9661591		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	14730505, 25324357, 30171599		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	10690903, 12412775, 15754035, 17302875, 9661591		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	11208387, 34054720	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15953876, 21309754, 22213340, 22842395, 22947263, 23485413, 23880018, 24239437, 24394913, 24595449, 24993298, 25008423, 25169913, 25890641, 26112724, 27282160, 27345382, 27772736, 28216333, 29467625, 30763651, 30863943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	15953876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	15953876, 21309754, 23485413, 25890641, 27772736, 31877334, 34365149	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	19110537		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	16048257		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	25910066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peptic Ulcer	Peptic ulcer disease	Pubtator	24060611	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	10505806, 12666703, 15455736, 19325195, 21764034, 23841669, 28266114, 29608804		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	19684957, 23841669, 31663450, 35740958	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	12200969, 16128836, 16304445, 17848979, 17914260, 18410395, 19684957, 21198767, 21764034, 22181683, 24803230, 27808388, 27989222, 28345770, 29208185, 30957605, 31448964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	35740958, 35859479, 36214094	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	32340109	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27155524, 29581796, 30410834, 31589956		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	28749078		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31179282		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19501823, 21082232, 21389086, 21637951, 21975377, 23246977, 23276559, 24044903, 24078159, 26422783, 26458343, 28127831, 28822353, 28868946, 29669566, 30182771, 30570841, 30584400, 30687119, 30764792, 30794820, 31089932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19501823, 21082232, 26458343, 28868946, 29669566, 30182771, 31089932, 31870342, 32042037, 34609237, 37202765, 38167474, 38258318, 39336541, 39656229	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	24535566		★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	21975377		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	19500727, 21346722		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	10611163, 10877221, 11230734, 11230990, 11786968, 12169981, 15683428, 15880308, 19376604, 24224838, 24526415, 25730037, 28146070		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	30718230		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	28146070, 28426778		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	27145372		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	12694466		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10101249, 10344739, 10504001, 10508794, 10597185, 10642433, 10650802, 10667581, 10680726, 10705205, 10987658, 11389055, 11789558, 11920955, 12053022, 12181642, 12540499, 12644831, 12694466, 12727815, 14693728, 14713753, 14991752, 15050735, 15065089, 15083213, 15298953, 15368470, 15503828, 15711606, 15717311, 15824177, 15897695, 15958597, 16243370, 16267836, 16600714, 16626332, 16708371, 16815628, 17010601, 17164384, 17388667, 17440943, 17932346, 18281521, 18483391, 18483761, 18849534, 19124512, 19164469, 19255064, 19400699, 19667145, 19861519, 19961572, 20053187, 20184087, 20466759, 20687218, 21358824, 21537045, 21664243, 21703046, 21887707, 22193519, 22323358, 22473304, 22499501, 22661288, 22710747, 23098689, 23129590, 23167358, 23579488, 23807674, 24120391, 24344024, 24755043, 24825850, 24926821, 25494645, 25520061, 25750310, 25824742, 27553621, 27788484, 28222630, 28423553, 28811844, 28944088, 29088772, 29109096, 29181077, 29467956, 29910622, 30122987, 30334420, 31194807, 31212954, 31243105, 8797574, 8836163, 8998186, 9027366, 9299455, 9492054, 9563471, 9610787, 9751364		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	12644831, 21133615, 24606449, 25685834	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	15083213		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	37082578	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10504001, 10680726, 11789558, 15300237, 15503828, 16101324, 17388667, 17604335, 17855664, 18849534, 19164469, 19255064, 19961572, 20466759, 20687218, 21347289, 21358824, 21537045, 21887707, 22710747, 23087083, 24755043, 24825850, 25494645, 25520061, 25750310, 25824742, 29899561, 31243105, 32102946, 33099475, 33761087, 36017197, 37082578, 9027366, 9037559, 9464239, 9751364	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12181642, 14693728, 15064717, 15083213, 15503828, 15717311, 15754350, 16076555, 16708371, 16815628, 17440943, 17569297, 17932346, 18281521, 18483391, 18849534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	20347977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21537045, 29508414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30905091	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pruritus	Pruritus	Pubtator	28426778	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	25268393, 26725771, 26911666		★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	CTD_human_DG	1338926, 22466564		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12071154, 12111344, 15864137, 21198789, 21951018, 22290287, 22540341, 23111742, 23488577, 24055231, 24320988, 28592257, 29401702, 30015892, 30268505, 30474246, 31623568, 9886274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	12111344, 12192493, 12413773, 17763859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	20890434	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	12413773, 17763859, 21951018		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	14751420, 30142216		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	31126722	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	29313597		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	18803071		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	39523384	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	18258629, 19409562, 26379431, 31427443, 32493333	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33967623	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	31278070		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30659895		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	10765127, 11506951, 15252846, 15577288, 16425262, 16614118, 16965239, 18086783, 20432164		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	LHGDN	18086783		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	20432164		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	12846052		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	18246496, 24297042		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12402975, 16949927, 17593089, 17707062, 18246496, 19667145, 19753122, 21931993, 24297042, 24609903, 26521212, 27174575, 29659618, 29970659, 31242814, 31729097		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	12402975, 17593089, 18246496		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	24135137		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	21762013, 29305902, 31218132		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	30760068		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	30132432	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	26632733, 29033051, 31063999		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	26632733	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25899017		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12324873, 12823982, 22564539		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	33273558	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11251690, 11306745, 12846052, 16151416, 16447061, 17659758, 19151030, 20401725, 21110115, 21820934, 22859341, 23271131, 24530824, 24880677, 25577294, 26686848, 26724524, 27906437, 27915349, 28167299, 30138371, 30796319, 31011579, 31205465, 9598881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16151416, 16447061, 17659758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rickets	Rickets	BEFREE	10418998, 11092401, 11693961, 12403843, 12468277, 12520531, 12599478, 15190891, 15308610, 17078924, 17202743, 17551469, 18285415, 19049339, 19094076, 19169476, 19523546, 19815438, 20511061, 22990231, 24239437, 24246681, 24336386, 24859502, 25147982, 25201466, 25483621, 2557627, 26422470, 27973470, 28013309, 29101648, 30012355, 30268505, 30731117, 7986828, 8106618, 8381803, 8388340, 8675579, 9360557, 9495519		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rickets	Rickets	Pubtator	11092401, 11564167, 14665637, 17078924, 19049339, 21397016, 22855339, 25483621, 2557627, 26153892, 28367941, 29949513, 3034980, 30959822, 9005998, 9495519	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rickets	Rickets	LHGDN	12403843, 14746673		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rickets	Rickets	CTD_human_DG	1338926, 17451081, 22466564		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rickets	Rickets	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rickets Hypophosphatemic	Hypophosphatemic rickets	Pubtator	29127362, 9495519	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	10508794, 11033842, 15332393, 27588937		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	11050002	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	26415498, 32696506, 36233147, 38004107	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15854747, 16634022, 23042374		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	27409400		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	34609237	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	29765521		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	37242266	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	17363400, 28406554, 29530503		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	27435453		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	24015038		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34977255	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	19008093, 25207361, 28526240, 28832880		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	16710576, 17078924, 20890434, 21292298, 34995387	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	11306745		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	23059470		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	26068789	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30562127, 30782293		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	8642046	Stimulate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	21073120		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	12070243	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	20144597, 30461062		★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	BEFREE	31127184		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	15801025		★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	10457270, 11204438, 17371163, 23070909, 28222408	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	10597185, 12150447, 19105801, 28427429		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16950800, 17119052, 20398752, 20952745, 22213323, 22612324, 24626468, 26068789, 27127116		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24381141, 24951052, 28362172, 29423673		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22242137, 24497297, 25662556, 36902107	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15861040, 22242137		★☆☆☆☆ Found in Text Mining only
Squamous Cell Neoplasms	Neoplasm	BEFREE	31232112		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29514138, 29761652, 30248338, 30905785, 31506976		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25245011, 26105695, 28465245, 30666644, 31287793		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26722516	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26105695, 26722516, 28489590, 35676532, 37787272	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37845735	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	27671249, 28825325		★☆☆☆☆ Found in Text Mining only
Subcortical Infarction	Brain Infarction	CTD_human_DG	25498546		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	29243839		★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	LHGDN	18379465		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	27409400, 31678895		★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	27715403, 28736298		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	21076051		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	37242266	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	29594051		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	22511602	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29553126, 30486759, 32285621, 33000217, 35379049, 38132395, 38639057	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	19499989, 20860424, 26907966		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	22511602	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	22117179, 23065592, 25046415		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	34621381	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	22511602		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20860424, 26907966		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	20860424, 22690899, 36099120	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22511602	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	21278761, 24376526, 25046415, 31531369, 35843716	Associate	★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	21823528, 23155691, 31686401		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11386849, 15190891, 15308610		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	23232694	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	21823528, 23155691, 31686401		★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	33806559	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23337117, 27120467, 35468986	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28663327		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31450894	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32360595	Inhibit	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	21823528, 23155691, 31686401		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	21073120, 21823528, 22117179, 31686401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turner Syndrome	Turner syndrome	Pubtator	22117179, 30887870	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	10896912, 12428072, 15684874, 19365702, 21401893, 22467262, 23945234, 23971939, 27661667, 27771345, 27913273, 28881831, 28938443, 29234327, 29718408, 30429108, 30719077		★☆☆☆☆ Found in Text Mining only
Uncinate Epilepsy	Epilepsy	CTD_human_DG	18534255		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	28636576		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	10690903, 22322482, 27706649, 8840304, 9070272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uremia	Uremia	CTD_human_DG	19092814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uremia	Uremia	Pubtator	27706649, 39799338	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26501255, 26615419	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	11167636, 11956476, 17419705, 18036039, 20018354, 20339297, 21325790, 24093218, 24190699, 25060549, 26275878, 26908058, 27539983, 29085969, 30742686, 31212049, 31515573		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	Pubtator	16101324, 24060611, 26908058, 29624220, 30742686	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	36440356	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33112551	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	30478352		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	31235702	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	39799338	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	24316428	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	20422622	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	23198772		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	10696983, 11697802, 12454321, 12520517, 17224129, 18694980, 19956103, 20003690, 20511061, 21764620, 22051697, 22280097, 22548720, 22681928, 22785457, 22855339, 22990231, 23026509, 23352876, 23416105, 24105653, 24173581, 24200978, 24219580, 24239437, 24370753, 24680778, 24729966, 25407646, 25827670, 26011658, 26193879, 26422783, 26513524, 26615419, 27043843, 27124026, 27160686, 27207494, 27409400, 27435453, 27570856, 27595605, 27913273, 28004271, 28068558, 28617856, 28703134, 28765037, 29018141, 29143122, 29205876, 29355791, 29406999, 29434472, 29530503, 29552033, 30012355, 30045341, 30150596, 30166978, 30408071, 30683435, 30699973, 30714636, 30830277, 31134092, 31175967, 31292859, 31323164, 31359379, 31402402, 31415247, 31690667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin D Deficiency	LHGDN	18694980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	21115878, 22785457, 22855339, 24200978, 24219580, 24729966, 26193879, 27124026, 27145372, 27435453, 27570856, 28036013, 28617856, 29112142, 29415666, 29465575, 30066819, 30150596, 30481178, 30699973, 30714636, 31892349, 32127856, 32464532, 32542627, 32727130, 33186385, 33801744, 33823058, 34139712, 34245553, 34251342, 34609237, 34937516, 35276923, 35478145, 36099120, 36360253, 36395814, 37123164, 37242229, 37407930, 37559014, 37834314, 38015195, 39201651, 39445578, 40439389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin D Deficiency	CTD_human_DG	9525346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-Dependent Rickets, Type 2A	Vitamin D-Dependent Rickets	BEFREE	14676077, 28367941, 31557081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-Dependent Rickets, Type 2A	Vitamin D-Dependent Rickets	UNIPROT_DG	1652893, 17970811, 2177843, 2849209, 28698609, 7828346, 8106618, 8381803, 8392085, 8675579, 8961271, 9005998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-Dependent Rickets, Type 2A	Vitamin D-Dependent Rickets	GENOMICS_ENGLAND_DG	2558018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-Dependent Rickets, Type 2A	Vitamin D-Dependent Rickets	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-Dependent Rickets, Type 2A	Vitamin D-Dependent Rickets	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	BEFREE	16710576, 22738935, 22762534, 25788285, 27420410, 29080365, 30024533, 31120146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	16710576, 35318513, 35380061, 35411132, 35411730	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	16710576, 22738935, 22762534, 25788285, 27420410, 29080365, 30024533, 31120146		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	12837248		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	23232694	Associate	★☆☆☆☆ Found in Text Mining only