FN1 (fibronectin 1)

Gene

• Entrez ID: 2335
• Gene name: Fibronectin 1
• Gene symbol: FN1
• Synonyms (NCBI Gene): CIG, ED-B, FINC, FN, FNZ, GFND, GFND2, LETS, MSF, SMDCF
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113683179	C>G,T	Pathogenic	Splice donor variant
rs137854488	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs797044906	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs869025199	GAG>-	Pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1064795155	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1181638652	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1553636502	GTT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1553658926	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553658948	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553659131	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553667072	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1559604072	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559609410	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559616744	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004009	hsa-miR-200b-3p	Microarray	17875710
MIRT003959	hsa-miR-200c-3p	Microarray	17875710
MIRT006132	hsa-miR-1-3p	GFP reporter assay, qRT-PCR, Western blot	21924268
MIRT006132	hsa-miR-1-3p	GFP reporter assay, qRT-PCR, Western blot	21924268
MIRT006162	hsa-let-7g-5p	Luciferase reporter assay, Microarray, Western blot	21868760
MIRT006162	hsa-let-7g-5p	Luciferase reporter assay, Microarray, Western blot	21868760
MIRT003959	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT003959	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT006132	hsa-miR-1-3p	GFP reporter assay, qRT-PCR, Western blot	21924268
MIRT006162	hsa-let-7g-5p	Luciferase reporter assay, Microarray, Western blot	21868760
MIRT006162	hsa-let-7g-5p	Luciferase reporter assay, Microarray, Western blot	21868760
MIRT003959	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT003959	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT006132	hsa-miR-1-3p	GFP reporter assay, qRT-PCR, Western blot	21924268
MIRT006162	hsa-let-7g-5p	Luciferase reporter assay, Microarray, Western blot	21868760
MIRT006162	hsa-let-7g-5p	Luciferase reporter assay, Microarray, Western blot	21868760
MIRT003959	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT003959	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT006132	hsa-miR-1-3p	Immunoblot, Immunofluorescence, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22210864
MIRT006132	hsa-miR-1-3p	Immunoblot, Immunofluorescence, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22210864
MIRT029079	hsa-miR-26b-5p	Microarray	19088304
MIRT040254	hsa-miR-615-3p	CLASH	23622248
MIRT004009	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23408168
MIRT004009	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23408168
MIRT440632	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440632	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT003959	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28113080
MIRT003959	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28113080
MIRT440632	hsa-miR-218-5p	Microarray	33439992
MIRT440632	hsa-miR-218-5p	Microarray	33439992
MIRT733128	hsa-miR-101-3p	Immunohistochemistry (IHC), Western blotting	31930166
MIRT735238	hsa-miR-432-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31423213
MIRT755976	hsa-miR-34b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	38477044
MIRT756086	hsa-miR-202-3p	Western blotting, qRT-PCR	37226011
MIRT999844	hsa-miR-101	CLIP-seq
MIRT999845	hsa-miR-1271	CLIP-seq
MIRT999846	hsa-miR-143	CLIP-seq
MIRT999847	hsa-miR-144	CLIP-seq
MIRT999848	hsa-miR-182	CLIP-seq
MIRT999849	hsa-miR-199a-3p	CLIP-seq
MIRT999850	hsa-miR-199b-3p	CLIP-seq
MIRT999851	hsa-miR-3124-3p	CLIP-seq
MIRT999852	hsa-miR-3129-5p	CLIP-seq
MIRT999853	hsa-miR-3154	CLIP-seq
MIRT999854	hsa-miR-3163	CLIP-seq
MIRT999855	hsa-miR-3185	CLIP-seq
MIRT999856	hsa-miR-320a	CLIP-seq
MIRT999857	hsa-miR-320b	CLIP-seq
MIRT999858	hsa-miR-320c	CLIP-seq
MIRT999859	hsa-miR-320d	CLIP-seq
MIRT999860	hsa-miR-3606	CLIP-seq
MIRT999861	hsa-miR-3616-5p	CLIP-seq
MIRT999862	hsa-miR-3647-5p	CLIP-seq
MIRT999863	hsa-miR-3692	CLIP-seq
MIRT999864	hsa-miR-4257	CLIP-seq
MIRT999865	hsa-miR-4272	CLIP-seq
MIRT999866	hsa-miR-4429	CLIP-seq
MIRT999867	hsa-miR-4504	CLIP-seq
MIRT999868	hsa-miR-4709-3p	CLIP-seq
MIRT999869	hsa-miR-4770	CLIP-seq
MIRT999870	hsa-miR-4795-5p	CLIP-seq
MIRT999871	hsa-miR-573	CLIP-seq
MIRT999872	hsa-miR-885-5p	CLIP-seq
MIRT999873	hsa-miR-921	CLIP-seq
MIRT999874	hsa-miR-96	CLIP-seq
MIRT999875	hsa-miR-3908	CLIP-seq
MIRT999876	hsa-miR-3942-5p	CLIP-seq
MIRT999877	hsa-miR-4703-5p	CLIP-seq
MIRT999878	hsa-miR-4766-3p	CLIP-seq
MIRT999879	hsa-miR-590-3p	CLIP-seq
MIRT999880	hsa-miR-887	CLIP-seq
MIRT999864	hsa-miR-4257	CLIP-seq
MIRT999865	hsa-miR-4272	CLIP-seq
MIRT999844	hsa-miR-101	CLIP-seq
MIRT999847	hsa-miR-144	CLIP-seq
MIRT999844	hsa-miR-101	CLIP-seq
MIRT1548757	hsa-miR-1262	CLIP-seq
MIRT1548758	hsa-miR-1270	CLIP-seq
MIRT999845	hsa-miR-1271	CLIP-seq
MIRT1548759	hsa-miR-127-5p	CLIP-seq
MIRT1548760	hsa-miR-1278	CLIP-seq
MIRT1548761	hsa-miR-128	CLIP-seq
MIRT1548762	hsa-miR-1305	CLIP-seq
MIRT1548763	hsa-miR-1323	CLIP-seq
MIRT1548764	hsa-miR-133a	CLIP-seq
MIRT1548765	hsa-miR-133b	CLIP-seq
MIRT1548766	hsa-miR-139-5p	CLIP-seq
MIRT999847	hsa-miR-144	CLIP-seq
MIRT1548767	hsa-miR-146a	CLIP-seq
MIRT1548768	hsa-miR-146b-5p	CLIP-seq
MIRT999848	hsa-miR-182	CLIP-seq
MIRT1548769	hsa-miR-1911	CLIP-seq
MIRT1548770	hsa-miR-193a-5p	CLIP-seq
MIRT999849	hsa-miR-199a-3p	CLIP-seq
MIRT999850	hsa-miR-199b-3p	CLIP-seq
MIRT1548771	hsa-miR-200b	CLIP-seq
MIRT1548772	hsa-miR-200c	CLIP-seq
MIRT1548773	hsa-miR-217	CLIP-seq
MIRT1548774	hsa-miR-219-1-3p	CLIP-seq
MIRT1548775	hsa-miR-27a	CLIP-seq
MIRT1548776	hsa-miR-27b	CLIP-seq
MIRT1548777	hsa-miR-298	CLIP-seq
MIRT999851	hsa-miR-3124-3p	CLIP-seq
MIRT999852	hsa-miR-3129-5p	CLIP-seq
MIRT1548778	hsa-miR-3135b	CLIP-seq
MIRT1548779	hsa-miR-3144-3p	CLIP-seq
MIRT1548780	hsa-miR-3145-3p	CLIP-seq
MIRT1548781	hsa-miR-3148	CLIP-seq
MIRT1548782	hsa-miR-3158-3p	CLIP-seq
MIRT1548783	hsa-miR-3160-3p	CLIP-seq
MIRT1548784	hsa-miR-3160-5p	CLIP-seq
MIRT999854	hsa-miR-3163	CLIP-seq
MIRT1548785	hsa-miR-3164	CLIP-seq
MIRT1548786	hsa-miR-3174	CLIP-seq
MIRT1548787	hsa-miR-3201	CLIP-seq
MIRT999856	hsa-miR-320a	CLIP-seq
MIRT999857	hsa-miR-320b	CLIP-seq
MIRT999858	hsa-miR-320c	CLIP-seq
MIRT999859	hsa-miR-320d	CLIP-seq
MIRT1548788	hsa-miR-320e	CLIP-seq
MIRT1548789	hsa-miR-337-3p	CLIP-seq
MIRT1548790	hsa-miR-34b	CLIP-seq
MIRT1548791	hsa-miR-3609	CLIP-seq
MIRT1548792	hsa-miR-3653	CLIP-seq
MIRT1548793	hsa-miR-3658	CLIP-seq
MIRT1548794	hsa-miR-3664-3p	CLIP-seq
MIRT1548795	hsa-miR-3685	CLIP-seq
MIRT1548796	hsa-miR-3691-5p	CLIP-seq
MIRT999863	hsa-miR-3692	CLIP-seq
MIRT1548797	hsa-miR-384	CLIP-seq
MIRT1548798	hsa-miR-3944-5p	CLIP-seq
MIRT1548799	hsa-miR-3978	CLIP-seq
MIRT1548800	hsa-miR-4275	CLIP-seq
MIRT1548801	hsa-miR-4282	CLIP-seq
MIRT1548802	hsa-miR-429	CLIP-seq
MIRT1548803	hsa-miR-4318	CLIP-seq
MIRT1548804	hsa-miR-432	CLIP-seq
MIRT1548805	hsa-miR-4326	CLIP-seq
MIRT999866	hsa-miR-4429	CLIP-seq
MIRT1548806	hsa-miR-4434	CLIP-seq
MIRT1548807	hsa-miR-448	CLIP-seq
MIRT1548808	hsa-miR-4487	CLIP-seq
MIRT1548809	hsa-miR-4496	CLIP-seq
MIRT1548810	hsa-miR-4511	CLIP-seq
MIRT1548811	hsa-miR-4516	CLIP-seq
MIRT1548812	hsa-miR-4527	CLIP-seq
MIRT1548813	hsa-miR-4531	CLIP-seq
MIRT1548814	hsa-miR-4640-5p	CLIP-seq
MIRT1548815	hsa-miR-4661-3p	CLIP-seq
MIRT1548816	hsa-miR-4666-3p	CLIP-seq
MIRT1548817	hsa-miR-4677-3p	CLIP-seq
MIRT1548818	hsa-miR-4680-5p	CLIP-seq
MIRT1548819	hsa-miR-4687-5p	CLIP-seq
MIRT1548820	hsa-miR-4691-5p	CLIP-seq
MIRT1548821	hsa-miR-4693-5p	CLIP-seq
MIRT1548822	hsa-miR-4701-3p	CLIP-seq
MIRT1548823	hsa-miR-4712-3p	CLIP-seq
MIRT1548824	hsa-miR-4720-3p	CLIP-seq
MIRT1548825	hsa-miR-4726-5p	CLIP-seq
MIRT1548826	hsa-miR-4729	CLIP-seq
MIRT1548827	hsa-miR-4742-5p	CLIP-seq
MIRT1548828	hsa-miR-4752	CLIP-seq
MIRT1548829	hsa-miR-4767	CLIP-seq
MIRT1548830	hsa-miR-4773	CLIP-seq
MIRT1548831	hsa-miR-4791	CLIP-seq
MIRT1548832	hsa-miR-499-3p	CLIP-seq
MIRT1548833	hsa-miR-499a-3p	CLIP-seq
MIRT1548834	hsa-miR-511	CLIP-seq
MIRT1548835	hsa-miR-520a-5p	CLIP-seq
MIRT1548836	hsa-miR-525-5p	CLIP-seq
MIRT1548837	hsa-miR-539	CLIP-seq
MIRT1548838	hsa-miR-548ah	CLIP-seq
MIRT1548839	hsa-miR-548o	CLIP-seq
MIRT1548840	hsa-miR-548t	CLIP-seq
MIRT1548841	hsa-miR-558	CLIP-seq
MIRT1548842	hsa-miR-571	CLIP-seq
MIRT1548843	hsa-miR-579	CLIP-seq
MIRT1548844	hsa-miR-595	CLIP-seq
MIRT1548845	hsa-miR-604	CLIP-seq
MIRT1548846	hsa-miR-607	CLIP-seq
MIRT1548847	hsa-miR-618	CLIP-seq
MIRT1548848	hsa-miR-620	CLIP-seq
MIRT1548849	hsa-miR-640	CLIP-seq
MIRT1548850	hsa-miR-645	CLIP-seq
MIRT1548851	hsa-miR-647	CLIP-seq
MIRT1548852	hsa-miR-802	CLIP-seq
MIRT1548853	hsa-miR-873	CLIP-seq
MIRT1548854	hsa-miR-892a	CLIP-seq
MIRT1548855	hsa-miR-944	CLIP-seq
MIRT999874	hsa-miR-96	CLIP-seq
MIRT1548758	hsa-miR-1270	CLIP-seq
MIRT1548759	hsa-miR-127-5p	CLIP-seq
MIRT1548767	hsa-miR-146a	CLIP-seq
MIRT1548768	hsa-miR-146b-5p	CLIP-seq
MIRT1548774	hsa-miR-219-1-3p	CLIP-seq
MIRT1548778	hsa-miR-3135b	CLIP-seq
MIRT1548783	hsa-miR-3160-3p	CLIP-seq
MIRT1548788	hsa-miR-320e	CLIP-seq
MIRT1548804	hsa-miR-432	CLIP-seq
MIRT1548806	hsa-miR-4434	CLIP-seq
MIRT1548808	hsa-miR-4487	CLIP-seq
MIRT1548811	hsa-miR-4516	CLIP-seq
MIRT1548813	hsa-miR-4531	CLIP-seq
MIRT1548817	hsa-miR-4677-3p	CLIP-seq
MIRT1548820	hsa-miR-4691-5p	CLIP-seq
MIRT1548835	hsa-miR-520a-5p	CLIP-seq
MIRT1548836	hsa-miR-525-5p	CLIP-seq
MIRT1548841	hsa-miR-558	CLIP-seq
MIRT1548842	hsa-miR-571	CLIP-seq
MIRT1548843	hsa-miR-579	CLIP-seq
MIRT1548848	hsa-miR-620	CLIP-seq
MIRT1548771	hsa-miR-200b	CLIP-seq
MIRT1548772	hsa-miR-200c	CLIP-seq
MIRT999854	hsa-miR-3163	CLIP-seq
MIRT1548802	hsa-miR-429	CLIP-seq
MIRT999844	hsa-miR-101	CLIP-seq
MIRT999847	hsa-miR-144	CLIP-seq
MIRT999854	hsa-miR-3163	CLIP-seq
MIRT1548805	hsa-miR-4326	CLIP-seq
MIRT1548771	hsa-miR-200b	CLIP-seq
MIRT1548772	hsa-miR-200c	CLIP-seq
MIRT1548802	hsa-miR-429	CLIP-seq
MIRT999844	hsa-miR-101	CLIP-seq
MIRT2534178	hsa-miR-105	CLIP-seq
MIRT1548757	hsa-miR-1262	CLIP-seq
MIRT1548758	hsa-miR-1270	CLIP-seq
MIRT1548759	hsa-miR-127-5p	CLIP-seq
MIRT1548762	hsa-miR-1305	CLIP-seq
MIRT1548763	hsa-miR-1323	CLIP-seq
MIRT1548764	hsa-miR-133a	CLIP-seq
MIRT1548765	hsa-miR-133b	CLIP-seq
MIRT999847	hsa-miR-144	CLIP-seq
MIRT2534179	hsa-miR-145	CLIP-seq
MIRT1548767	hsa-miR-146a	CLIP-seq
MIRT1548768	hsa-miR-146b-5p	CLIP-seq
MIRT2534180	hsa-miR-151-3p	CLIP-seq
MIRT2534181	hsa-miR-186	CLIP-seq
MIRT2534182	hsa-miR-1915	CLIP-seq
MIRT1548770	hsa-miR-193a-5p	CLIP-seq
MIRT1548771	hsa-miR-200b	CLIP-seq
MIRT1548772	hsa-miR-200c	CLIP-seq
MIRT1548773	hsa-miR-217	CLIP-seq
MIRT1548774	hsa-miR-219-1-3p	CLIP-seq
MIRT2534183	hsa-miR-219-2-3p	CLIP-seq
MIRT1548775	hsa-miR-27a	CLIP-seq
MIRT1548776	hsa-miR-27b	CLIP-seq
MIRT2534184	hsa-miR-2964a-3p	CLIP-seq
MIRT1548777	hsa-miR-298	CLIP-seq
MIRT2534185	hsa-miR-3065-5p	CLIP-seq
MIRT2534186	hsa-miR-3074-3p	CLIP-seq
MIRT2534187	hsa-miR-3121-3p	CLIP-seq
MIRT999851	hsa-miR-3124-3p	CLIP-seq
MIRT2534188	hsa-miR-3134	CLIP-seq
MIRT1548778	hsa-miR-3135b	CLIP-seq
MIRT1548779	hsa-miR-3144-3p	CLIP-seq
MIRT1548780	hsa-miR-3145-3p	CLIP-seq
MIRT1548781	hsa-miR-3148	CLIP-seq
MIRT2534189	hsa-miR-3153	CLIP-seq
MIRT1548782	hsa-miR-3158-3p	CLIP-seq
MIRT1548783	hsa-miR-3160-3p	CLIP-seq
MIRT1548784	hsa-miR-3160-5p	CLIP-seq
MIRT2534190	hsa-miR-3161	CLIP-seq
MIRT999854	hsa-miR-3163	CLIP-seq
MIRT1548785	hsa-miR-3164	CLIP-seq
MIRT1548788	hsa-miR-320e	CLIP-seq
MIRT1548789	hsa-miR-337-3p	CLIP-seq
MIRT1548790	hsa-miR-34b	CLIP-seq
MIRT1548792	hsa-miR-3653	CLIP-seq
MIRT1548793	hsa-miR-3658	CLIP-seq
MIRT1548794	hsa-miR-3664-3p	CLIP-seq
MIRT2534191	hsa-miR-3671	CLIP-seq
MIRT2534192	hsa-miR-3674	CLIP-seq
MIRT2534193	hsa-miR-3679-3p	CLIP-seq
MIRT1548795	hsa-miR-3685	CLIP-seq
MIRT2534194	hsa-miR-376a	CLIP-seq
MIRT2534195	hsa-miR-376b	CLIP-seq
MIRT1548797	hsa-miR-384	CLIP-seq
MIRT2534196	hsa-miR-3925-3p	CLIP-seq
MIRT1548798	hsa-miR-3944-5p	CLIP-seq
MIRT1548801	hsa-miR-4282	CLIP-seq
MIRT1548802	hsa-miR-429	CLIP-seq
MIRT1548804	hsa-miR-432	CLIP-seq
MIRT2534197	hsa-miR-4328	CLIP-seq
MIRT1548806	hsa-miR-4434	CLIP-seq
MIRT1548807	hsa-miR-448	CLIP-seq
MIRT1548808	hsa-miR-4487	CLIP-seq
MIRT1548809	hsa-miR-4496	CLIP-seq
MIRT1548810	hsa-miR-4511	CLIP-seq
MIRT1548811	hsa-miR-4516	CLIP-seq
MIRT1548812	hsa-miR-4527	CLIP-seq
MIRT1548813	hsa-miR-4531	CLIP-seq
MIRT2534198	hsa-miR-4646-5p	CLIP-seq
MIRT1548816	hsa-miR-4666-3p	CLIP-seq
MIRT2534199	hsa-miR-4668-5p	CLIP-seq
MIRT1548817	hsa-miR-4677-3p	CLIP-seq
MIRT2534200	hsa-miR-4680-3p	CLIP-seq
MIRT1548818	hsa-miR-4680-5p	CLIP-seq
MIRT1548819	hsa-miR-4687-5p	CLIP-seq
MIRT1548820	hsa-miR-4691-5p	CLIP-seq
MIRT1548822	hsa-miR-4701-3p	CLIP-seq
MIRT2534201	hsa-miR-4711-3p	CLIP-seq
MIRT1548823	hsa-miR-4712-3p	CLIP-seq
MIRT1548824	hsa-miR-4720-3p	CLIP-seq
MIRT2534202	hsa-miR-4724-5p	CLIP-seq
MIRT2534203	hsa-miR-4726-3p	CLIP-seq
MIRT1548826	hsa-miR-4729	CLIP-seq
MIRT2534204	hsa-miR-4733-5p	CLIP-seq
MIRT1548827	hsa-miR-4742-5p	CLIP-seq
MIRT2534205	hsa-miR-4760-5p	CLIP-seq
MIRT2534206	hsa-miR-4762-5p	CLIP-seq
MIRT1548830	hsa-miR-4773	CLIP-seq
MIRT2534207	hsa-miR-483-3p	CLIP-seq
MIRT1548832	hsa-miR-499-3p	CLIP-seq
MIRT1548833	hsa-miR-499a-3p	CLIP-seq
MIRT2534208	hsa-miR-508-5p	CLIP-seq
MIRT2534209	hsa-miR-513a-5p	CLIP-seq
MIRT1548835	hsa-miR-520a-5p	CLIP-seq
MIRT1548836	hsa-miR-525-5p	CLIP-seq
MIRT1548837	hsa-miR-539	CLIP-seq
MIRT2534210	hsa-miR-548aa	CLIP-seq
MIRT2534211	hsa-miR-548ac	CLIP-seq
MIRT2534212	hsa-miR-548c-3p	CLIP-seq
MIRT2534213	hsa-miR-548d-3p	CLIP-seq
MIRT1548839	hsa-miR-548o	CLIP-seq
MIRT2534214	hsa-miR-548z	CLIP-seq
MIRT1548841	hsa-miR-558	CLIP-seq
MIRT1548842	hsa-miR-571	CLIP-seq
MIRT1548843	hsa-miR-579	CLIP-seq
MIRT1548844	hsa-miR-595	CLIP-seq
MIRT1548845	hsa-miR-604	CLIP-seq
MIRT1548846	hsa-miR-607	CLIP-seq
MIRT1548847	hsa-miR-618	CLIP-seq
MIRT1548848	hsa-miR-620	CLIP-seq
MIRT2534215	hsa-miR-628-5p	CLIP-seq
MIRT1548849	hsa-miR-640	CLIP-seq
MIRT2534216	hsa-miR-643	CLIP-seq
MIRT1548850	hsa-miR-645	CLIP-seq
MIRT1548851	hsa-miR-647	CLIP-seq
MIRT1548853	hsa-miR-873	CLIP-seq
MIRT1548855	hsa-miR-944	CLIP-seq
MIRT999844	hsa-miR-101	CLIP-seq
MIRT2534178	hsa-miR-105	CLIP-seq
MIRT1548757	hsa-miR-1262	CLIP-seq
MIRT1548758	hsa-miR-1270	CLIP-seq
MIRT1548759	hsa-miR-127-5p	CLIP-seq
MIRT1548762	hsa-miR-1305	CLIP-seq
MIRT1548763	hsa-miR-1323	CLIP-seq
MIRT1548764	hsa-miR-133a	CLIP-seq
MIRT1548765	hsa-miR-133b	CLIP-seq
MIRT999847	hsa-miR-144	CLIP-seq
MIRT2534179	hsa-miR-145	CLIP-seq
MIRT1548767	hsa-miR-146a	CLIP-seq
MIRT1548768	hsa-miR-146b-5p	CLIP-seq
MIRT2534181	hsa-miR-186	CLIP-seq
MIRT2534182	hsa-miR-1915	CLIP-seq
MIRT1548770	hsa-miR-193a-5p	CLIP-seq
MIRT1548771	hsa-miR-200b	CLIP-seq
MIRT1548772	hsa-miR-200c	CLIP-seq
MIRT1548773	hsa-miR-217	CLIP-seq
MIRT1548774	hsa-miR-219-1-3p	CLIP-seq
MIRT2534183	hsa-miR-219-2-3p	CLIP-seq
MIRT2534184	hsa-miR-2964a-3p	CLIP-seq
MIRT1548777	hsa-miR-298	CLIP-seq
MIRT2534185	hsa-miR-3065-5p	CLIP-seq
MIRT999851	hsa-miR-3124-3p	CLIP-seq
MIRT2534188	hsa-miR-3134	CLIP-seq
MIRT1548778	hsa-miR-3135b	CLIP-seq
MIRT1548779	hsa-miR-3144-3p	CLIP-seq
MIRT1548780	hsa-miR-3145-3p	CLIP-seq
MIRT1548781	hsa-miR-3148	CLIP-seq
MIRT2534189	hsa-miR-3153	CLIP-seq
MIRT1548782	hsa-miR-3158-3p	CLIP-seq
MIRT1548783	hsa-miR-3160-3p	CLIP-seq
MIRT1548784	hsa-miR-3160-5p	CLIP-seq
MIRT2534190	hsa-miR-3161	CLIP-seq
MIRT999854	hsa-miR-3163	CLIP-seq
MIRT1548785	hsa-miR-3164	CLIP-seq
MIRT1548788	hsa-miR-320e	CLIP-seq
MIRT1548789	hsa-miR-337-3p	CLIP-seq
MIRT1548790	hsa-miR-34b	CLIP-seq
MIRT1548791	hsa-miR-3609	CLIP-seq
MIRT1548792	hsa-miR-3653	CLIP-seq
MIRT1548793	hsa-miR-3658	CLIP-seq
MIRT1548794	hsa-miR-3664-3p	CLIP-seq
MIRT2534191	hsa-miR-3671	CLIP-seq
MIRT2534192	hsa-miR-3674	CLIP-seq
MIRT1548795	hsa-miR-3685	CLIP-seq
MIRT2534194	hsa-miR-376a	CLIP-seq
MIRT2534195	hsa-miR-376b	CLIP-seq
MIRT1548797	hsa-miR-384	CLIP-seq
MIRT2534196	hsa-miR-3925-3p	CLIP-seq
MIRT1548798	hsa-miR-3944-5p	CLIP-seq
MIRT1548799	hsa-miR-3978	CLIP-seq
MIRT1548800	hsa-miR-4275	CLIP-seq
MIRT1548801	hsa-miR-4282	CLIP-seq
MIRT1548802	hsa-miR-429	CLIP-seq
MIRT1548804	hsa-miR-432	CLIP-seq
MIRT2534197	hsa-miR-4328	CLIP-seq
MIRT1548806	hsa-miR-4434	CLIP-seq
MIRT1548807	hsa-miR-448	CLIP-seq
MIRT1548808	hsa-miR-4487	CLIP-seq
MIRT1548809	hsa-miR-4496	CLIP-seq
MIRT1548810	hsa-miR-4511	CLIP-seq
MIRT1548811	hsa-miR-4516	CLIP-seq
MIRT1548812	hsa-miR-4527	CLIP-seq
MIRT1548813	hsa-miR-4531	CLIP-seq
MIRT2534198	hsa-miR-4646-5p	CLIP-seq
MIRT1548815	hsa-miR-4661-3p	CLIP-seq
MIRT1548816	hsa-miR-4666-3p	CLIP-seq
MIRT2534199	hsa-miR-4668-5p	CLIP-seq
MIRT1548817	hsa-miR-4677-3p	CLIP-seq
MIRT2534200	hsa-miR-4680-3p	CLIP-seq
MIRT1548818	hsa-miR-4680-5p	CLIP-seq
MIRT1548819	hsa-miR-4687-5p	CLIP-seq
MIRT1548820	hsa-miR-4691-5p	CLIP-seq
MIRT1548822	hsa-miR-4701-3p	CLIP-seq
MIRT1548823	hsa-miR-4712-3p	CLIP-seq
MIRT1548824	hsa-miR-4720-3p	CLIP-seq
MIRT2534202	hsa-miR-4724-5p	CLIP-seq
MIRT2534203	hsa-miR-4726-3p	CLIP-seq
MIRT1548826	hsa-miR-4729	CLIP-seq
MIRT2534204	hsa-miR-4733-5p	CLIP-seq
MIRT1548827	hsa-miR-4742-5p	CLIP-seq
MIRT2534205	hsa-miR-4760-5p	CLIP-seq
MIRT2534206	hsa-miR-4762-5p	CLIP-seq
MIRT1548830	hsa-miR-4773	CLIP-seq
MIRT2534207	hsa-miR-483-3p	CLIP-seq
MIRT1548832	hsa-miR-499-3p	CLIP-seq
MIRT1548833	hsa-miR-499a-3p	CLIP-seq
MIRT2534208	hsa-miR-508-5p	CLIP-seq
MIRT1548835	hsa-miR-520a-5p	CLIP-seq
MIRT1548836	hsa-miR-525-5p	CLIP-seq
MIRT1548837	hsa-miR-539	CLIP-seq
MIRT2534210	hsa-miR-548aa	CLIP-seq
MIRT2534211	hsa-miR-548ac	CLIP-seq
MIRT1548838	hsa-miR-548ah	CLIP-seq
MIRT2534212	hsa-miR-548c-3p	CLIP-seq
MIRT2534213	hsa-miR-548d-3p	CLIP-seq
MIRT1548839	hsa-miR-548o	CLIP-seq
MIRT1548840	hsa-miR-548t	CLIP-seq
MIRT2534214	hsa-miR-548z	CLIP-seq
MIRT1548841	hsa-miR-558	CLIP-seq
MIRT1548842	hsa-miR-571	CLIP-seq
MIRT1548843	hsa-miR-579	CLIP-seq
MIRT1548844	hsa-miR-595	CLIP-seq
MIRT1548845	hsa-miR-604	CLIP-seq
MIRT1548846	hsa-miR-607	CLIP-seq
MIRT1548847	hsa-miR-618	CLIP-seq
MIRT1548848	hsa-miR-620	CLIP-seq
MIRT2534215	hsa-miR-628-5p	CLIP-seq
MIRT1548849	hsa-miR-640	CLIP-seq
MIRT2534216	hsa-miR-643	CLIP-seq
MIRT1548850	hsa-miR-645	CLIP-seq
MIRT1548851	hsa-miR-647	CLIP-seq
MIRT1548853	hsa-miR-873	CLIP-seq
MIRT1548855	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Unknown	21055159
ATF2	Unknown	10471826
CEBPA	Unknown	1320003
EGR1	Activation	15608673;9933644
EGR1	Unknown	10783396
KLF8	Repression	20728449
NFKB1	Activation	10649441;10867646
NFKB1	Unknown	22223884
PARP1	Unknown	22223884
RELA	Activation	10649441;10867646
RELA	Unknown	22223884
SNAI1	Unknown	22223884
SOX17	Repression	24407731
TWIST1	Activation	20646316
TWIST2	Activation	20646316

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001932	Process	Regulation of protein phosphorylation	IDA	11792823
GO:0002020	Function	Protease binding	IEA
GO:0002020	Function	Protease binding	IPI	22952693
GO:0005102	Function	Signaling receptor binding	IDA	34089617
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005178	Function	Integrin binding	IBA
GO:0005178	Function	Integrin binding	IDA	19738201, 33962943
GO:0005178	Function	Integrin binding	IMP	24658351
GO:0005178	Function	Integrin binding	IPI	11792823
GO:0005201	Function	Extracellular matrix structural constituent	HDA	28344315
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0005515	Function	Protein binding	IPI	1400330, 1747115, 2531657, 3141278, 9269765, 9278415, 10627046, 10788510, 11377428, 11773026, 11956183, 12167537, 12225811, 12421310, 12736686, 15165854, 15292204, 16336961, 16457822, 16677310, 17130124, 17849409, 18042364, 18160478, 18243143, 18323857, 18411296, 18713862, 19220903
GO:0005518	Function	Collagen binding	NAS	3024962
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005577	Component	Fibrinogen complex	IDA	3997886
GO:0005577	Component	Fibrinogen complex	IPI	20541508
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IDA	15292204
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	15308636
GO:0005886	Component	Plasma membrane	TAS
GO:0006953	Process	Acute-phase response	IEA
GO:0007044	Process	Cell-substrate junction assembly	IBA
GO:0007044	Process	Cell-substrate junction assembly	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	1423622
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007161	Process	Calcium-independent cell-matrix adhesion	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	19126672
GO:0007399	Process	Nervous system development	IBA
GO:0007507	Process	Heart development	IBA
GO:0008201	Function	Heparin binding	IEA
GO:0008201	Function	Heparin binding	NAS	10075919
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	25834989
GO:0008360	Process	Regulation of cell shape	IEA
GO:0009611	Process	Response to wounding	NAS	7989369
GO:0010628	Process	Positive regulation of gene expression	IDA	25834989
GO:0014850	Process	Response to muscle activity	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016504	Function	Peptidase activator activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IDA	26571399
GO:0031012	Component	Extracellular matrix	IDA	1632457, 16157329
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0033622	Process	Integrin activation	IMP	24658351
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IDA	16236823, 19126672
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IMP	24658351
GO:0035987	Process	Endodermal cell differentiation	IDA	23154389
GO:0042060	Process	Wound healing	IEA
GO:0042802	Function	Identical protein binding	IPI	17914904, 18042364, 19826086, 19931242, 20541508
GO:0043394	Function	Proteoglycan binding	IBA
GO:0043394	Function	Proteoglycan binding	IDA	29030641
GO:0043542	Process	Endothelial cell migration	IDA	20123964
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	25834989
GO:0051702	Process	Biological process involved in interaction with symbiont	IDA	12167537, 12421310, 19429745
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	19126672
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21276792
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IDA	11792823
GO:0071635	Process	Negative regulation of transforming growth factor beta production	IDA	25834989
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	3997886
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0150102	Process	Negative regulation of monocyte activation	IDA	34089617
GO:0150102	Process	Negative regulation of monocyte activation	IEA
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	IDA	26571399
GO:1904237	Process	Positive regulation of substrate-dependent cell migration, cell attachment to substrate	IDA	25834989

Other IDs

• MIM: 135600
• HGNC: 3778
• e!Ensembl: ENSG00000115414

Protein

• UniProt ID: P02751
• Protein name: Fibronectin (FN) (Cold-insoluble globulin) (CIG) [Cleaved into: Anastellin; Ugl-Y1; Ugl-Y2; Ugl-Y3]
• Protein function: Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin (PubMed:3024962, PubMed:3593230, PubMed:3900070, PubMed:7989369). Fibronectins are involved in cell adhesion, cell motility, opsonization,
• PDB: 1E88, 1E8B, 1FBR, 1FNA, 1FNF, 1FNH, 1J8K, 1O9A, 1OWW, 1Q38, 1QGB, 1QO6, 1TTF, 1TTG, 2CG6, 2CG7, 2CK2, 2CKU, 2EC3, 2FN2, 2FNB, 2GEE, 2H41, 2H45, 2HA1, 2MNU, 2N1K, 2OCF, 2RKY, 2RKZ, 2RL0, 3CAL, 3EJH, 3GXE, 3M7P, 3MQL, 3R8Q, 3T1W, 3ZRZ, 4GH7, 4JE4, 4JEG, 4LXO, 4MMX, 4MMY, 4MMZ, 4PZ5, 5DC0, 5DC4, 5DC9, 5DFT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00039	fn1	52 → 87	Fibronectin type I domain	Domain
  PF00039	fn1	97 → 135	Fibronectin type I domain	Domain
  PF00039	fn1	141 → 179	Fibronectin type I domain	Domain
  PF00039	fn1	186 → 225	Fibronectin type I domain	Domain
  PF00039	fn1	231 → 270	Fibronectin type I domain	Domain
  PF00039	fn1	308 → 342	Fibronectin type I domain	Domain
  PF00040	fn2	360 → 401	Fibronectin type II domain	Domain
  PF00040	fn2	420 → 461	Fibronectin type II domain	Domain
  PF00039	fn1	470 → 508	Fibronectin type I domain	Domain
  PF00039	fn1	518 → 555	Fibronectin type I domain	Domain
  PF00039	fn1	561 → 599	Fibronectin type I domain	Domain
  PF00041	fn3	609 → 692	Fibronectin type III domain	Domain
  PF00041	fn3	723 → 801	Fibronectin type III domain	Domain
  PF00041	fn3	812 → 891	Fibronectin type III domain	Domain
  PF00041	fn3	908 → 988	Fibronectin type III domain	Domain
  PF00041	fn3	998 → 1078	Fibronectin type III domain	Domain
  PF00041	fn3	1093 → 1163	Fibronectin type III domain	Domain
  PF00041	fn3	1175 → 1258	Fibronectin type III domain	Domain
  PF00041	fn3	1268 → 1349	Fibronectin type III domain	Domain
  PF00041	fn3	1359 → 1439	Fibronectin type III domain	Domain
  PF00041	fn3	1449 → 1530	Fibronectin type III domain	Domain
  PF00041	fn3	1543 → 1623	Fibronectin type III domain	Domain
  PF00041	fn3	1633 → 1713	Fibronectin type III domain	Domain
  PF00041	fn3	1723 → 1803	Fibronectin type III domain	Domain
  PF00041	fn3	1815 → 1894	Fibronectin type III domain	Domain
  PF00041	fn3	1904 → 1984	Fibronectin type III domain	Domain
  PF00041	fn3	2110 → 2182	Fibronectin type III domain	Domain
  PF00039	fn1	2206 → 2245	Fibronectin type I domain	Domain
  PF00039	fn1	2251 → 2288	Fibronectin type I domain	Domain
  PF00039	fn1	2295 → 2330	Fibronectin type I domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the inner limiting membrane and around blood vessels in the retina (at protein level) (PubMed:29777959). Plasma FN (soluble dimeric form) is secreted by hepatocytes. Cellular FN (dimeric or cross-linked multimeric forms),
• Sequence:

  MLRGPGPGLLLLAVQCLGTAVPSTGASKSKRQAQQMVQPQSPVAVSQSKPGCYDNGKHYQ
  INQQWERTYLGNALVCTCYGGSRGFNCESKPEAEETCFDKYTGNTYRVGDTYERPKDSMI
  WDCTCIGAGRGRISCTIANRCHEGGQSYKIGDTWRRPHETGGYMLECVCLGNGKGEWTCK
  PIAEKCFDHAAGTSYVVGETWEKPYQGWMMVDCTCLGEGSGRITCTSRNRCNDQDTRTSY
  RIGDTWSKKDNRGNLLQCICTGNGRGEWKCERHTSVQTTSSGSGPFTDVRAAVYQPQPHP
  QPPPYGHCVTDSGVVYSVGMQWLKTQGNKQMLCTCLGNGVSCQETAVTQTYGGNSNGEPC
  VLPFTYNGRTFYSCTTEGRQDGHLWCSTTSNYEQDQKYSFCTDHTVLVQTRGGNSNGALC
  HFPFLYNNHNYTDCTSEGRRDNMKWCGTTQNYDADQKFGFCPMAAHEEICTTNEGVMYRI
  GDQWDKQHDMGHMMRCTCVGNGRGEWTCIAYSQLRDQCIVDDITYNVNDTFHKRHEEGHM
  LNCTCFGQGRGRWKCDPVDQCQDSETGTFYQIGDSWEKYVHGVRYQCYCYGRGIGEWHCQ
  PLQTYPSSSGPVEVFITETPSQPNSHPIQWNAPQPSHISKYILRWRPKNSVGRWKEATIP
  GHLNSYTIKGLKPGVVYEGQLISIQQYGHQEVTRFDFTTTSTSTPVTSNTVTGETTPFSP
  LVATSESVTEITASSFVVSWVSASDTVSGFRVEYELSEEGDEPQYLDLPSTATSVNIPDL
  LPGRKYIVNVYQISEDGEQSLILSTSQTTAPDAPPDTTVDQVDDTSIVVRWSRPQAPITG
  YRIVYSPSVEGSSTELNLPETANSVTLSDLQPGVQYNITIYAVEENQESTPVVIQQETTG
  TPRSDTVPSPRDLQFVEVTDVKVTIMWTPPESAVTGYRVDVIPVNLPGEHGQRLPISRNT
  FAEVTGLSPGVTYYFKVFAVSHGRESKPLTAQQTTKLDAPTNLQFVNETDSTVLVRWTPP
  RAQITGYRLTVGLTRRGQPRQYNVGPSVSKYPLRNLQPASEYTVSLVAIKGNQESPKATG
  VFTTLQPGSSIPPYNTEVTETTIVITWTPAPRIGFKLGVRPSQGGEAPREVTSDSGSIVV
  SGLTPGVEYVYTIQVLRDGQERDAPIVNKVVTPLSPPTNLHLEANPDTGVLTVSWERSTT
  PDITGYRITTTPTNGQQGNSLEEVVHADQSSCTFDNLSPGLEYNVSVYTVKDDKESVPIS
  DTIIPEVPQLTDLSFVDITDSSIGLRWTPLNSSTIIGYRITVVAAGEGIPIFEDFVDSSV
  GYYTVTGLEPGIDYDISVITLINGGESAPTTLTQQTAVPPPTDLRFTNIGPDTMRVTWAP
  PPSIDLTNFLVRYSPVKNEEDVAELSISPSDNAVVLTNLLPGTEYVVSVSSVYEQHESTP
  LRGRQKTGLDSPTGIDFSDITANSFTVHWIAPRATITGYRIRHHPEHFSGRPREDRVPHS
  RNSITLTNLTPGTEYVVSIVALNGREESPLLIGQQSTVSDVPRDLEVVAATPTSLLISWD
  APAVTVRYYRITYGETGGNSPVQEFTVPGSKSTATISGLKPGVDYTITVYAVTGRGDSPA
  SSKPISINYRTEIDKPSQMQVTDVQDNSISVKWLPSSSPVTGYRVTTTPKNGPGPTKTKT
  AGPDQTEMTIEGLQPTVEYVVSVYAQNPSGESQPLVQTAVTNIDRPKGLAFTDVDVDSIK
  IAWESPQGQVSRYRVTYSSPEDGIHELFPAPDGEEDTAELQGLRPGSEYTVSVVALHDDM
  ESQPLIGTQSTAIPAPTDLKFTQVTPTSLSAQWTPPNVQLTGYRVRVTPKEKTGPMKEIN
  LAPDSSSVVVSGLMVATKYEVSVYALKDTLTSRPAQGVVTTLENVSPPRRARVTDATETT
  ITISWRTKTETITGFQVDAVPANGQTPIQRTIKPDVRSYTITGLQPGTDYKIYLYTLNDN
  ARSSPVVIDASTAIDAPSNLRFLATTPNSLLVSWQPPRARITGYIIKYEKPGSPPREVVP
  RPRPGVTEATITGLEPGTEYTIYVIALKNNQKSEPLIGRKKTDELPQLVTLPHPNLHGPE
  ILDVPSTVQKTPFVTHPGYDTGNGIQLPGTSGQQPSVGQQMIFEEHGFRRTTPPTTATPI
  RHRPRPYPPNVGEEIQIGHIPREDVDYHLYPHGPGLNPNASTGQEALSQTTISWAPFQDT
  SEYIISCHPVGTDEEPLQFRVPGTSTSATLTGLTRGATYNVIVEALKDQQRHKVREEVVT
  VGNSVNEGLNQPTDDSCFDPYTVSHYAVGDEWERMSESGFKLLCQCLGFGSGHFRCDSSR
  WCHDNGVNYKIGEKWDRQGENGQMMSCTCLGNGKGEFKCDPHEATCYDDGKTYHVGEQWQ
  KEYLGAICSCTCFGGQRGWRCDNCRRPGGEPSPEGTTGQSYNQYSQRYHQRTNTNVNCPI
  ECFMPLDVQADREDSRE

• Sequence length: 2477

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
FN1-related disorder	Pathogenic	rs137854488	RCV004745163	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulopathy with fibronectin deposits 2	Likely pathogenic; Pathogenic	rs112323657, rs137854487, rs869025198, rs869025199, rs137854486, rs137854488	RCV002281673 RCV000207403 RCV000207361 RCV000207432 RCV000017720 RCV000017721 RCV000017722	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Likely pathogenic	rs2053446114	RCV001849884	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1553667072	RCV005863165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylometaphyseal dysplasia	Likely pathogenic; Pathogenic	rs1064795155, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs1559604072, rs1559609410, rs1559616744	RCV000754912 RCV000509583 RCV000509587 RCV000509585 RCV000509582 RCV000509586 RCV000754909 RCV000754911 RCV000754910	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia - Sutcliffe type	Pathogenic; Likely pathogenic	rs753456938, rs2470507548, rs137854488, rs2470007988, rs2470007923, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs113683179	RCV002240143 RCV002790041 RCV002482881 RCV003989897 RCV003990022 RCV000755747 RCV000570760 RCV000755737 RCV000575065 RCV000566441 RCV000790509	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE INSUFFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birt-Hogg-Dube syndrome 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulopathy with fibronectin deposits 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ 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
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS, CALCIUM OXALATE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Plasma fibronectin deficiency	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC REGURGITATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal dysplasia, Strudwick type	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE	—	ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Alport syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	12571435		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	12095151		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10372817, 9808545		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	12095151		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30249565		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	25248926		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11786733, 15136764, 2297755, 25244057, 28978001, 8286197		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12138246, 28450859		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28978001, 29632636		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19166932, 28407745		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	15047158		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	10359046, 2408413, 28460248		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	7705930		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	28887601		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11331612, 31208372		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28887601		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32207273, 33626208	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	9808545		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29332262		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	9743375		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27798121		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	10359046, 30591455		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	23622001		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	38029923	Associate	★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	26817844		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	BEFREE	9870923		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37819172, 38605603	Associate	★☆☆☆☆ Found in Text Mining only
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	7683269		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	7637318		★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	12911787		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29326641, 31394426		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28446589		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10090132, 10211598, 9288789, 9683297, 9809999		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	17704536		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	11300459	Stimulate	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30481617		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	15308324, 21088296	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	18179910	Stimulate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	26497328	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21109934, 22077151, 29303405, 30217058, 30451798, 30678127, 30736807, 31208372		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	21166705, 28339009		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21593211	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	11300459		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	11300459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	CTD_human_DG	21216836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	11300459, 20041033, 21479812		★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	29476210, 9628325		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	10359046, 30591455		★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	29587413		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11166770, 14976060, 16375583, 17468934, 20378855, 21527747, 22514136, 23075332, 24468139, 26427793, 28720870, 29382667, 30613278, 30813060, 31408443, 31565711, 9098440		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	11677248, 15843581, 18838522, 19953231	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12958296, 19953231, 28193842, 29306173, 29529488		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	10733677, 14680507	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Reactive	Reactive arthritis	Pubtator	12810431	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12428226, 1376652, 14680507, 16778393, 18289383, 22215041, 22339947, 23217276, 36398072	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	1616356	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	11353845, 19047405, 19710636, 23457493, 28402030, 32155894, 35751199	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	18321931, 26342086	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	20967215, 23457493, 26342086, 28402030, 30053974, 30905217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	10029102, 11753680, 8033113		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10936787	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	2783578, 30178348		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30679601, 35782055	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	10074478, 28720870, 35130031, 40649979	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11166770, 14976060, 16375583, 17468934, 20378855, 21527747, 22514136, 23075332, 24468139, 26427793, 28720870, 29382667, 30613278, 30813060, 31408443, 31565711, 9098440		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17468934		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	15020515, 35348192, 37280612	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	21215756, 30158379		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36398072, 37161136	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22939004		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29207079		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22819856	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Type 2B	Autoimmune Lymphoproliferative Disorder	BEFREE	28596275		★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	12911787		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	17526550, 31013842, 31189740, 31524253		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	28941013, 28978001		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	24458521		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	10359047		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28836852		★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	29227167		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	6426239		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	6426239		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	21148425		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	18348696		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20012564, 22386417, 23383328, 23722651, 24449823, 27683119, 28475311, 28521777, 29562940		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	10216094, 24349325, 30314454, 34232570	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	17596138	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	30928090		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	31792355	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	40063067	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16141199, 28675230, 31187845		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	40621453	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11571649, 14508113, 16817231, 16985061, 17406357, 18243246, 19029090, 19234134, 19630967, 20068563, 20145126, 20516121, 20821288, 21076473, 21170718, 21316371, 21464039, 21472136, 22038895, 23653350, 25208219, 25743092, 25772243, 25990368, 26097122, 26134759, 26811325, 27769887, 27859262, 28054666, 28213554, 28521486, 28765903, 28855026, 29177019, 29277681, 29285674, 29628980, 29934326, 30023665, 31000696, 31637720, 31812165, 9306963, 9541473		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10359047, 14508113, 15353581, 15509657, 16443928, 18314480, 18765548, 19630967, 19845941, 19948022, 20068563, 20201928, 20489157, 20516121, 20821288, 20851879, 21472136, 23624917, 24000122, 24113073, 24335179, 24466266, 24608434, 24785587, 25208219, 25579546, 25824986, 26068592, 26447611, 26903292, 26996066, 28054666, 28855026, 28972876, 29020637, 30237810, 31182966, 31323325, 31558321, 31795964, 31987794, 32616754, 32988382, 33008904, 33439992, 34313250, 34384030, 35186236, 35617355, 36922898, 37268731, 6462919, 8468356	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	27913195, 34641959	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	29934326	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	1514107, 24040336, 28587394, 9724336		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	20007695		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	25190493	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	25190493		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	33727696	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	30551431		★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	28911071	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16203624, 18451144, 20032387, 31658331, 32801999, 35782055	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10090132, 10585605, 15642389, 1612776, 16857413, 18094649, 18829569, 19396378, 24081675, 31658331, 7946273, 8982375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	2459257	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	10359046	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	24485923, 2459257, 3361139	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	10359047, 23602364	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	9566920	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15777850, 1668673, 17006932, 23826206, 24833879, 24966965, 2543664, 25609232, 29713327, 34443536, 34571852, 35602894, 36609600	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26403951, 35982891	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	34866441	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10084990, 20012564, 22386417, 23722651, 24449823, 27683119, 28521777, 29562940, 9628655		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11280762, 11605051, 11786733, 15221958, 1716516, 17600315, 19396378, 20615257, 22749159, 2297755, 23929437, 25244057, 25340791, 27849000, 28327179, 8810633		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25824797, 30451798, 30736807, 31731384, 34007003	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20860816, 22674303	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22266190, 23139422, 24081675, 24247930, 24862756, 30824757, 31181623, 31774870, 31850854, 31950034, 34688260, 36328501, 37563650	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23765377	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27138192	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	2459257, 29758283, 3361139		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	16507913		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12781446, 23895273, 24115647, 28944870		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27050951	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27050951, 33015184, 39442233, 8705761	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	9815151	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37628806	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	8705761		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10773239, 8705761, 9815151		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20232238, 24748407, 30909835		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32174066, 35130031, 36739654	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	11677248, 15843581, 24886251, 26973327, 33248223	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	29202173		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	30691475		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10440257, 11955914, 25626972, 30521667		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	33274006	Stimulate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	25156142		★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	15491286	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	32993718	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	7637318		★☆☆☆☆ Found in Text Mining only
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	BEFREE	21320870, 25369932		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30172921, 31721012, 31758600		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25885552, 30977220, 31423213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	17503414		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12514788, 25885552, 30977220, 31423213		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	34796122	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	9808545		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29332262, 30883338		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	34519176	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	37310456	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	17541620, 7515549		★☆☆☆☆ Found in Text Mining only
Chondroma	Chondroma	BEFREE	31273315		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	11565810, 31273315		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	11565810, 18641983, 25024164	Associate	★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	15901767, 31637720		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27056061, 28877681		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28273641, 28901271, 30713579, 31530851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18275431		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	25498831		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21980461, 24487392, 25794567, 28534971		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	24008269		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	24008269	Associate	★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	28490401, 30091854		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22173161, 26403951, 8481903		★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	28752875		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	20860816		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	35292718	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17855340		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32871953, 33582126	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11147813, 1534386, 17406357, 19935699, 21210228, 22898815, 23427003, 2995969, 31326465, 7961830, 9525743		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	28418095, 7535283	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21567080		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21567080, 7961830, 8611404, 9430710	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19655379, 19935699, 21123622, 22496919, 24743511, 24919860, 26015410, 28900381, 29274284, 31093274, 7543628		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17192196, 17406357, 19655379, 19794966, 20023414, 20032387, 21567080, 22898815, 24737953, 26015410, 27512995, 29863249, 33625532, 36991138, 37214090, 38102712, 39195201, 39940785	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	39373788	Inhibit	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	29705186		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	8727816		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	BEFREE	14575300		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	BEFREE	14575300		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	34997174	Associate	★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	35428170	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29653926, 30874892		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	2144868, 29587413		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	BEFREE	12911787		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23966293, 24862756, 28362712, 28487942, 28498731, 29490945, 31181623, 31774870, 7521786		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16375583, 20232238, 21479812, 30959395		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16375583, 20232238, 21479812, 29174387, 29295709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	16378831, 17636193, 18716775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714974, 29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	29207079, 31881747, 32513244, 35130031, 40649979, 7626352	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	16375583, 20232238, 21479812		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	22890993		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	35563870	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17136547, 18633626, 18839425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	LHGDN	17136547		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	18633626, 35692876	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	18839425	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	19751734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	36444838	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	19751734		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	19751734		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	27936534, 30514375		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	19007412	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10679109, 11710714, 12127832, 12712258, 23217276, 26818776, 29343182, 29804557, 29870552, 30560591, 8660106		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	19864907		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	19864907		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	28899916		★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	28933201		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	17185984, 31252620		★☆☆☆☆ Found in Text Mining only
Dermatitis Allergic Contact	Allergic contact dermatitis	Pubtator	12167174	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	11332203	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	12911787		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	11496245, 21513970		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28267785		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11704682, 12388107, 16741042, 17065349, 19391127, 19786738, 21885871, 2296596, 23150625, 23188731, 26093969, 26542796, 27914709, 29960272, 30662363, 30713578, 8603829		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	20617897	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10588367, 11704682, 12388107, 16741042, 17065349, 19391127, 19786738, 21885871, 2296596, 23150625, 23188731, 26093969, 26542796, 27914709, 29960272, 30662363, 30713578, 8603829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	12388107, 19175688, 21866211, 24095823, 34795670, 35119024, 35240786, 35592524	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	20551625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	3403725	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	16045741, 35650387	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32857885, 33902539, 35281591	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15277376, 28159318, 30662363, 30737621		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12190891, 17922475, 2245601, 28569923, 31039436		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	16741042, 17065349		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	19391127		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	36240130	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	27102877	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	1552712, 18268355, 26045844, 28954822, 29207157, 31355294, 34087849, 34215202, 34424825, 34557161, 35923621, 37960829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10026205, 10588367, 16301823, 17531120, 17554073, 17968528, 18268355, 21824169, 26045844, 28159318, 28208054, 28352334, 28566504, 29033543, 29042993, 29108256, 29223351, 29568954, 30024615, 30233688, 31534545, 8821830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	24413998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	10435836, 16741042, 21364670, 23188731, 27798121		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	25695094	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	18056413, 25146392	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	25146392		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	16091757		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31804739		★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	BEFREE	7520763, 8137903		★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	2930599, 30277861		★☆☆☆☆ Found in Text Mining only
Donohue Syndrome	Leprechaunism syndrome	BEFREE	28765322		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	7954686, 9467814		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	10359047, 9306963		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	BEFREE	8822112		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	Pubtator	23558685	Associate	★☆☆☆☆ Found in Text Mining only
Eccrine dermal cylindroma	Cylindromatosis	BEFREE	2408413		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	15901767, 31637720		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	15901767, 31637720		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	11496245, 21513970		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	15054833, 1802403, 1802404, 20853426, 2144868, 29587413, 7382073		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	BEFREE	26560304		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome type 2	Ehlers-Danlos Syndrome	BEFREE	2144868		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	17393025, 28780243, 8613409		★☆☆☆☆ Found in Text Mining only
Endocrine Gland Neoplasms	Endocrine Gland Neoplasms	BEFREE	14676124		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	21935603	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33579227	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	15265761, 31115525, 35303800, 37607964, 9022601	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	21705369, 24124596, 27049074, 31115525, 31281378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	GWASCAT_DG	28333195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	33029756	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia-Myalgia Syndrome	Eosinophilia	BEFREE	1702819		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	11698408	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	BEFREE	27989960		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	12485428		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	BEFREE	9389789		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16159522, 29096132		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26742644	Associate	★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	1735112, 19219685		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	28872257		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	2459257		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28147311, 32208405	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28556501, 30241395, 30314454, 33248456, 37026938, 37766459	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	12786822		★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	7637318		★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	26968105		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	12031647		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	12031647		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28811292		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	15531510, 18555241, 19328471, 22425196, 22901846, 24934492, 28929861, 8077380		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	BEFREE	9541473		★☆☆☆☆ Found in Text Mining only
Fibronectin glomerulopathy	Fibronectin Glomerulopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	11295052, 19366727, 20040604, 2046332, 28129015, 28484076, 28493851, 3790566, 8082745, 8813154, 9894155		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	21320502, 22173161, 22989567, 24976518, 27236336, 28602220, 28757911, 28941022, 29414645, 31144658, 9382972		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	24833739		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	16191423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicular adenoma	Adenoma	BEFREE	18094649, 26749005, 27809694		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	28726551, 28727885		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	26302187	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	29294389	Stimulate	★☆☆☆☆ Found in Text Mining only
Funisitis (disorder)	Funisitis	BEFREE	28910845		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	7599338		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	10487259	Associate	★☆☆☆☆ Found in Text Mining only
Generalized distal tubular acidosis	Distal Tubular Acidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	17099729		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	18334936, 24030464, 28860021, 28958132, 31115504		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28860021, 33746571, 35502038	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	28860021, 31529121	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	11721183, 24052232, 31529121, 31589839, 31779192		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10783396, 1847665, 23704872, 23912459, 24145173, 26284619, 28434806, 28675230, 28933201, 29158223, 30127865, 30386245, 30695232, 31491450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	10783396, 10936787, 18587533, 21980357, 23238957, 26284619, 28191466, 29158223, 30353492, 30695232, 33917452, 34225581, 34376733, 35327982, 35513291, 38060213, 38286983, 39946771, 40052499	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	17099729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	33694259, 35538679	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	10783396, 1847665, 23912459, 24145173, 26284619, 28434806, 28675230, 28933201, 29158223, 30127865, 30386245, 30695232, 31491450		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	17099729		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17360931, 20646316, 20819642, 24815461, 25748242, 26317904, 27541285, 28161812, 2825464, 28535003, 30048971, 33917452, 35882906	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18611854, 20927322, 23704872, 28535003, 29706869, 29963235, 30048971		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	15372454, 7747733		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	33043579	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	18268355, 19693466, 36978098, 40547031	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	10964510, 8137903		★☆☆☆☆ Found in Text Mining only
Glomerulopathy with fibronectin deposits	Glomerulopathy With Fibronectin Deposits	ORPHANET_DG	18268355		★☆☆☆☆ Found in Text Mining only
Glomerulopathy with fibronectin deposits	Glomerulopathy With Fibronectin Deposits	BEFREE	20594046, 24046192, 27056061, 28745050, 29131116, 31419955, 9837825		★☆☆☆☆ Found in Text Mining only
Glomerulopathy with fibronectin deposits	Glomerulopathy With Fibronectin Deposits	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)	Glomerulopathy with fibronectin deposits	GENOMICS_ENGLAND_DG	18268355		★☆☆☆☆ Found in Text Mining only
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)	Glomerulopathy with fibronectin deposits	ORPHANET_DG	18268355		★☆☆☆☆ Found in Text Mining only
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)	Glomerulopathy with fibronectin deposits	UNIPROT_DG	18268355		★☆☆☆☆ Found in Text Mining only
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)	Glomerulopathy with fibronectin deposits	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)	Glomerulopathy with fibronectin deposits	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	15372454, 20375117, 21814837, 27959966, 30849675, 31222503, 31358596, 31377057		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25214719	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	27798121		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	23842427	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	15610514		★☆☆☆☆ Found in Text Mining only
Granular Dystrophy, Corneal	Corneal Granular Dystrophy	BEFREE	19933198		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	25939343	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	26599235	Stimulate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	34383782	Associate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	12823356		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	12823356	Stimulate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	6309863	Associate	★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	1353052		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	22890993		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	9870923		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21548989, 36510962	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25933374, 34796122	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29653926		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36303443	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	36303443	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	20232238		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	40474296	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28716814		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	20007695		★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	31419955, 39368581	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria Benign Familial	Hematuria	Pubtator	36774238, 39368581	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	24564349	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	11309340		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	17006932	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26961242	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	15088873, 27614106, 9660329		★☆☆☆☆ Found in Text Mining only
Hereditary Myopathy with Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure	BEFREE	23486992, 24444549, 24636144, 25253871		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	28656720, 30616633, 31760535		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	30616633, 36738110	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32235718	Associate	★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	16191423		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	1552712, 36240130	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16301823, 21478477, 22511849, 24468139, 24691542, 26115221, 29462799, 29774092, 30132524		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29960272		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	LHGDN	12401883		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	30508396	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	1616356	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35586138	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	27799304	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	1739129, 31419955, 36739654	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	35502038, 40547031	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	11682445, 17324946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	30116202, 8206611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	28974422, 9291833		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	9094991	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodysfibrinogenemia	Hypodysfibrinogenemia	BEFREE	4084461		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	32810435	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16798617, 18507049, 23122428, 24390218	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19412434, 25096400, 35059742	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25961573, 28764685	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18478089, 1862087, 21642472, 22434388, 2461087, 26884454, 27080864, 28148565, 28922731, 29074489, 30810066, 9870923		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089, 1862087, 25199049, 29074489, 3680524, 40294812	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	2461087, 33474654	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	30910704		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	11423751, 12200800, 15030528, 15925904, 30880546		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	19751734		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37960829	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15625106, 16951174, 19824060		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	35663320	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28215575, 31093274		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	17185984, 31252620		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	30735274		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	36221354	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	15340826, 21337395, 22556410, 30370584, 32873329, 35409356	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	20628340, 21337395, 30370584		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37525423	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30737621		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	17038484, 8875484		★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	37175682	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	11442751, 16024014		★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	12571435		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	9541473		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	24763552, 33843785	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	25930081	Inhibit	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	12757752, 1303284, 29202173		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	11683372, 30029277	Associate	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	28331184		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	19616291, 30701361		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	11849412, 38401467	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	12003994, 18268355, 24040439, 28745050, 29908844, 31419955, 32174066, 36774238	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15372454, 16741042, 28877681, 30356276, 7520763, 7607623		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	27236336		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	18268355, 24886251, 33837952, 35836154, 37439962	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28673900		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27056061, 28866419, 28877681, 30755161		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	10594789	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	18567581	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	28269752	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	11260861		★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	BEFREE	22080335		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	11181017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	10785229, 18248652, 18555241, 19328471, 22901846, 26409322, 26776909, 27469327, 28212568, 28929861, 29747655, 37231028	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22925684	Stimulate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	37137790	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10339604, 10799609, 12095151, 12393420, 19454213, 28652245, 28678601		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16854822, 18268283, 20352103, 25961573, 33464167	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	6978742	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15183897, 16854822	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10192429	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14737076, 16854822		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	14737076		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	29316152, 7955466		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17595777, 20579373		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17383746, 18537194, 20618991, 24288120, 24388360, 24833879, 24992599, 26449737, 26494967, 26863632, 28407745, 28842594, 28974422, 29303507, 29315755, 29713327, 2995969, 9382972		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	22173161, 26403951, 8481903, 9382972		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33884041	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	14680507	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33884041	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	39805388	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17383746, 2297755, 2543664, 28974422, 2995969, 8481903		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	2543664	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	15908479, 16397245, 17600315, 19396378, 30810066, 9724336		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31882647	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	34504485	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	35997276	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15908479, 17237224, 19568240, 23122428, 25340791, 27484721, 31158229, 33728331, 40294812	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16203624, 1716516, 19396378, 21606196, 28652369		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17083624, 7530271, 7684054, 8254055	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22215041	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30718722, 7684054		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	18268355, 25666976, 31667864		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	18268355, 35788359	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	15022276	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30314454		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30314454, 32037399, 35821222, 36914422	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37026938, 40423510	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17526550, 27840970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	17526550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	35965624	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17526550, 27701018		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31608440	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	20150644		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	23056237		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11571649, 14508113, 16817231, 16985061, 17406357, 18243246, 19029090, 19234134, 19630967, 20068563, 20145126, 20516121, 20821288, 21076473, 21170718, 21316371, 21464039, 21472136, 22038895, 23653350, 25208219, 25743092, 25772243, 25990368, 26097122, 26134759, 26811325, 27769887, 27859262, 28054666, 28213554, 28521486, 28765903, 28855026, 29177019, 29277681, 29285674, 29628980, 29934326, 30023665, 31000696, 31637720, 31812165, 9306963		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19824060		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	20860816, 24081675		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	2297755, 2543664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11280762, 11605051, 11786733, 1716516, 17600315, 20615257, 22749159, 2297755, 23929437, 25244057, 25340791, 28327179, 8810633		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	20579373		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	30551431		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12649338, 12781446, 17383746, 23895273, 24115647, 28944870		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	14707728, 16215274, 16651417, 24604208, 29072694, 30736807, 30938983, 7635566		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10329586, 12686457, 14523021, 16138117, 16886606, 17329867, 17912026, 22378065, 22710722, 23024790, 23908593, 23918819, 27693493, 27902486, 28836852, 28976766, 29176724, 29961211, 31636091		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	31299490		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20210243, 26324226, 28113080, 30867749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15890670, 18829569, 27173027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	28095396		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	20012564, 22386417, 23722651, 24449823, 27683119, 28521777, 29562940		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10359047, 11280762, 12649338, 15456743, 15867248, 16141199, 16418723, 1711919, 18829569, 20210243, 20638438, 21036738, 2140677, 21630266, 22496919, 2297755, 24312560, 24919860, 24927874, 25208219, 25725450, 25743092, 25797258, 25990368, 26639577, 27541285, 27583849, 27590631, 27628214, 27940370, 28095396, 28102225, 28257048, 28433772, 28460248, 28484076, 28536280, 28765903, 28855026, 28877984, 28900381, 29021221, 29176724, 29270293, 29420611, 29485009, 29490945, 29706869, 29756328, 29771639, 29961211, 30023665, 30241395, 30285580, 30403862, 31004743, 31015308, 31118673, 31145503, 31348785, 31474744, 31488338, 31491450, 31521169, 31637720, 7946273, 9306963, 9714334		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	14673600, 29332262		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25885552, 30977220, 31423213		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11147813, 1534386, 17406357, 19935699, 21210228, 22898815, 23427003, 31326465, 9525743		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11948410, 12755619, 23624917, 24955145, 26811325, 27503584, 29263369, 29277681, 31812165		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15467744		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	21561146	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25736470	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10471056, 11231317, 12445207, 12519080, 12966436, 15846299, 1629241, 16405722, 16960555, 1703545, 1707057, 17912026, 20489157, 20856146, 24292944, 24390218, 25808322, 26302068, 26569587, 27474400, 32886718, 33593721, 40621453, 7525548, 7615962, 8006453, 8468356	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	10892885, 15608673, 16924594, 16960555, 17912026, 18690846, 19110070, 19372583, 21360640, 21912348, 24288120, 24292944, 25017017, 25808322, 26073081, 27474400, 27689402, 27842819, 28565914, 29450192, 30061229, 3025221, 30260627, 31118673, 3790566, 8526907, 8608953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	15645125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19332774	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	10547606		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	18587533	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	27605433	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35240786	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	24290991, 8608953		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	15500293		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	17194713	Associate	★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	24081675	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	28933201		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	20579373, 22297602, 36510962, 37641028	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10606891, 11154207, 11495705, 11535527, 11751905, 11882358, 12548578, 1421401, 15015970, 16497971, 18503584, 19001640, 20371671, 25071016, 26601950, 26848618, 27074166, 28653881, 28671047, 31888545, 39769169, 7579410, 8260708	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12930383, 17210782, 20371671, 21474670, 24037419, 24307516, 25061176, 25962684, 26453405, 26601950, 26848618, 26849235, 28238095, 28721629, 31540771, 7947265, 8480482		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12930383	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25156142, 28899916, 29600597, 30071854		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	20382434	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20382434, 23552961, 24458521		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	22128161, 25136616		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	11342427, 22906243, 30733282		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10583234, 10830729, 10973491, 11480565, 16007188, 9001433, 9558400, 9746786		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	11937267		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	12486316		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	25498831		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	10783134, 30791695		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	11864705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	12826286, 28438659, 28497398, 29177025, 29960272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30959395		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	34796122	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	25253871		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	21549096		★☆☆☆☆ Found in Text Mining only
Nanophthalmos 1	Nanophthalmos	Pubtator	35791166	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	28771607, 30015862		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28804222	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24081675, 28454308, 28613134, 29118912, 30551431, 31189740		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24081675	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	27765529, 28613134, 32281480, 35712071, 37056700, 38050231	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	37915157	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10090132, 10091938, 10588824, 10656437, 10751360, 10995450, 11222778, 11309340, 11396146, 11480565, 11719464, 11839575, 12138246, 12514788, 12781446, 1320358, 14706840, 14722919, 15060148, 15262424, 1534386, 15456743, 16091757, 1612776, 16203624, 16476999, 16585198, 16960555, 17330234, 17483339, 18243246, 18271006, 18567581, 18829569, 19029090, 1934258, 19473483, 19726060, 19824060, 19931242, 1999506, 20023414, 20237793, 20371671, 20616019, 20927322, 21483741, 21536688, 21630266, 21769776, 22644514, 22693354, 23115122, 23204394, 23791940, 23908593, 23912459, 23950208, 24074379, 24316974, 24434435, 2459257, 2462129, 24919860, 25741138, 25744716, 25990368, 26106154, 26284619, 2646306, 26517521, 26639577, 26811325, 27063097, 27173027, 27207836, 27602495, 27683119, 27849000, 27902486, 28161812, 28178689, 28367247, 28490401, 28536280, 28765903, 28855534, 28900381, 28900513, 28929492, 28933201, 28978001, 29176724, 29263369, 29270293, 29277681, 29329948, 29332262, 29491051, 29510995, 29526433, 29934326, 30241395, 30314454, 30451798, 30527239, 30551431, 30571736, 30579890, 30736807, 30742156, 30936321, 30977220, 31015308, 31374124, 31423213, 31429535, 31530096, 31629818, 3317103, 3361139, 3643927, 7521786, 7525495, 7543628, 7916148, 8481903, 8813154, 8982375, 9072558, 9764829		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	22095979		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	24265486		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	19616291, 30701361		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	26535688	Associate	★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	19616291		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	7607623		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	BEFREE	17383746, 21688291, 24069378, 25973900, 30260627, 7768944		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24069378, 2784439, 2888312, 3772296, 37947594	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16805856, 30679601, 31746390	Associate	★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	14673600, 2462129		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	14673600, 2462129		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	14673600		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	29332262, 30883338	Associate	★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	BEFREE	15504980		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	24413998		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15677767, 15825163, 15908479, 16203624, 16397245, 16882662, 17600315, 21606196, 23791940, 25244057, 25600647, 27207836, 29218247, 29787750, 30950185, 7505746, 9255608, 9294010		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	30936982		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18818416, 23264015, 27792870, 3353050		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27792870, 33902539, 34964707, 35240786, 39464190	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	14680507, 18289383, 19723327, 23460186, 24886251, 25410897, 26295224, 26973327, 27449198, 29804557, 30704030, 30760380, 31068249, 32255771, 32832544, 32872047, 33166667, 33248223, 33903620, 35093162, 35119024, 35532170, 36099032, 37308935, 37525423, 8660106	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	24886251	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	30388026		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	24886251		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	BEFREE	8592084		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	18056413	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	11704682		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	27799304	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	12958296		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	23263929		★☆☆☆☆ Found in Text Mining only
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	BEFREE	28869677		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10216094, 10961347, 11156738, 15589214, 18626747, 2443508, 27568842, 28836210, 2963329, 30204936, 30691475, 30975024, 3470294		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	10216094, 18626747, 29048621, 30975024, 35578666	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30691475	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12781446, 23895273, 24115647, 28944870		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15384859, 18340378		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11733357, 12649338, 16080542, 17383746, 19246646, 23326605, 23895273, 25050916, 28944870, 30256042, 30618037, 31936272, 32635925, 33109151, 33629295, 33723319, 34093898, 35055018, 35953860, 38010623, 40000955	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	14707728, 16215274, 16651417, 18852256, 24604208, 29072694, 30736807, 30938983, 7635566		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22077151, 30451798, 30736807		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	28045220, 28929492		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15354211, 18754866, 22015969, 22457533, 30736807, 31208372, 35979350, 36061357	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35428170	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	22280800		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	28418095	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	18053242	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	30212254, 8017097		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12538453, 20470202, 26749005, 27173027, 27942860, 28367057, 28603422, 29250177, 30344727		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	BEFREE	24265486		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	22128161, 22322306, 25136616, 31020618		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30112966		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28286065		★☆☆☆☆ Found in Text Mining only
Pemphigoid Benign Mucous Membrane	Benign mucous membrane pemphigoid	Pubtator	37690517	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	15681151, 19953231	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	19953231, 23313574, 31333451, 8698481, 9249194, 9848687		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	18838522, 27531006	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	19919176, 23313574		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29536628		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29536628		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	15698454, 28873458, 29306153		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	23418565	Associate	★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	12354893, 12856208		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	28752875		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	11331612		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	19219685, 29117316		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	16314830		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	14673600		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	22174924	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25626972, 29617629, 30280182		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32482257, 35141985	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	27779685	Associate	★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	BEFREE	16159522		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	19864907		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	11342427, 22906243, 30733282, 31569199		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	12486316		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	16741042, 29117316		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	1390532, 21571675, 27798121		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10329586, 12686457, 14523021, 16138117, 16886606, 17329867, 17912026, 22378065, 22710722, 23024790, 23918819, 27693493, 27902486, 28836852, 28976766, 29176724, 29961211, 31636091		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	26097605	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10329586, 14523021, 15500293, 16886606, 17912026, 18729104, 22378065, 23261429, 24132461, 24504141, 27590631, 27693493, 27926483, 29391407, 31636091, 36749798, 36806315, 37108678, 37956856	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16138117, 27693493		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	18268355, 26045844, 31419955	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	10733677, 15304094, 28589370		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	10733677	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	19661231, 23872359		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19047405, 21980461, 25745049, 31920121	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34210319, 36430467	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	1514107, 19628764, 25172494, 28446589, 28961490, 29623041, 29704504, 30323883, 30915776, 31049028, 31125560, 31130697, 31553994, 9870923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	26038391	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	26817844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	28005397	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Regional enteritis	Crohn Disease	CTD_human_DG	19751734		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	1348659, 20860816		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1348659, 15262424, 20860816, 23966293, 24081675, 24862756, 28487942, 28498731, 31181623, 31417307, 31774870, 7521786		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	17389734, 24114659, 25313562, 27236336, 28260014, 28613403, 28798804, 29484381, 29506626, 29789348, 29913155, 29973247, 30342194, 30662363, 31720047, 31813251		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	18268355, 20594046, 21698758, 28745050, 29131116, 7564073, 7680480, 8723129, 9158203, 9162006		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28286065		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	1514107		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	1514107		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	1514107		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30979017		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	7962645	Inhibit	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	1735112, 27798121		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	27798121, 8603829		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30242501		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	15120641, 3790566		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10716877, 12712258, 1616356, 17459959, 19758195, 19950274, 22339947, 23137648, 23217276, 28151034, 29529488, 30345838, 31004743, 8282813, 9541473, 9778218, 9973441		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17929131		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	23622001		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	27259755	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	26055407	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	27715394, 28484076, 2995969, 7532177, 9270031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	35578666	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	36478349	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	11165927	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	12786822		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12497612		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	1491389, 1511700, 3592743, 8615828		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	26360820, 29720235, 34344444, 34504485	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	29100092	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secretory meningioma	Secretory Meningioma	BEFREE	22995327		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29906512, 31596557		★☆☆☆☆ Found in Text Mining only
Serum Sickness	Serum Sickness	BEFREE	15372454		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	19364769		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31569199		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	10403921, 19794966	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	19468049		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	38128705	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	25562158		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	31299490, 35263398	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29522771		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	17018612, 24959847		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	12927054, 37926756	Associate	★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia 'corner fracture' type	Spondylometaphyseal dysplasia	Pubtator	29100092	Associate	★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, `corner fracture` type	Spondylometaphyseal Dysplasia	UNIPROT_DG	29100092		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, `corner fracture` type	Spondylometaphyseal Dysplasia	CLINVAR_DG	29100092		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, `corner fracture` type	Spondylometaphyseal Dysplasia	ORPHANET_DG	29100092		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, `corner fracture` type	Spondylometaphyseal Dysplasia	GENOMICS_ENGLAND_DG	29100092, 30599297		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, `corner fracture` type	Spondylometaphyseal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11442751, 12009335, 15051489, 15930335, 22575259, 22796477, 27246533, 7500289, 9348073		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15331608, 17879163		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22644514, 24407731, 29158807, 30241395, 30314454, 31512786		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	10576667, 19835631, 20579373, 20930522, 23765377, 25860510, 26040981, 28095396, 28102238, 30249886, 31304688, 33318468, 33723940, 33892811, 35088888, 36245368, 36510962, 39376501, 9228073	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37640804	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	40004538	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28267785		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15363550, 20930522, 22188922, 22547070, 28596235, 29491051, 29674419		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28811292		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20210243, 26324226, 28113080, 30867749		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17512904		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17601708, 21034459, 25350954, 27487135, 27583849, 28485806, 30948703, 31127138, 31658331, 32801999, 32908877, 33015179, 33446695, 33780362, 34126961, 35739492, 35756405, 35821222, 36842141, 37771777, 37800754, 37868053, 39456895	Associate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	16159522		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	BEFREE	29100092, 30051459, 30599297		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	12621118, 16159522, 19359105, 24322634, 29476210		★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	LHGDN	12621118		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	8282813		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	1491389, 1511700, 16098034, 1649227, 17195235, 2012628, 2023218, 23185265, 25562158, 26360820, 2930599, 29720235, 30150989, 30810066, 3592743, 7512991, 8466280, 8615828, 9870923		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12095151		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	28770707		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	9072558		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	16456230		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	26968105		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	6310559		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	6826726	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	2543664, 35938548	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	29739896	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11752453, 15272279, 17914110, 24947099, 27779685, 28849102, 30214625, 30414611, 30872410, 32994394, 33521130, 34522174, 37158852, 37733241, 40423510	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10090132, 10211598, 10690888, 15890670, 18094649, 18829569, 27173027, 9288789		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	31922212	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10090132, 10211598, 14558920, 15890670, 18829569, 27173027		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12538453, 15890670, 16091757, 17704536, 18958156		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15272279, 16675914, 30872410, 32164602, 32337286, 32793117, 34221185, 34791326, 37219859, 37664917	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	11472420	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	36834770	Stimulate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	28095396	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	27391808, 28472652	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	31734796		★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	BEFREE	30578393		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26160845, 26842883, 27859262, 29628980, 30181620		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31882647, 31892549, 36922898, 37500797, 40438115	Associate	★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	12402292, 16258947		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	9683297		★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	34862858	Stimulate	★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	35443864	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urethral Obstruction	Urethral Obstruction	BEFREE	31655312		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15385489, 18386055, 22228636, 26456754, 30689556, 32228629, 33007314, 33204728, 33962392, 37016361, 39342212	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	35662268	Stimulate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	22126379		★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	BEFREE	31132343		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	36768853	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16788844, 26148476, 34651664	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	35303800	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	15531510, 18555241, 19328471, 22425196, 22901846, 24934492, 28929861, 8077380		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	31006709		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	12208777	Inhibit	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	16088212		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	35313524	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	35692876, 9094991	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	17526550		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	8254055	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	BEFREE	30467979		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	23457493, 27126693, 28402030, 8705761	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	14575300		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33270842	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	23457620, 35579905	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	11331612, 14706840, 15060148		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	1670751	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	8449034		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	1712899, 8020582		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	1712899	Associate	★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	27959966, 9268105		★☆☆☆☆ Found in Text Mining only