ADAM17 (ADAM metallopeptidase domain 17)

Gene

• Entrez ID: 6868
• Gene name: ADAM metallopeptidase domain 17
• Gene symbol: ADAM17
• Synonyms (NCBI Gene): ADAM18, CD156B, CSVP, NISBD, NISBD1, TACE
• Chromosome: 2
• Chromosome location: 2p25.1
• Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906866	GTCT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003112	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT003112	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT003112	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT003112	hsa-miR-122-5p	Luciferase reporter assay, Review	19935707
MIRT003112	hsa-miR-122-5p	Review	20026422
MIRT003112	hsa-miR-122-5p	qRT-PCR	19726678
MIRT007275	hsa-miR-145-5p	Luciferase reporter assay	23441135
MIRT007275	hsa-miR-145-5p	Luciferase reporter assay	23441135
MIRT007275	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	23076445
0	hsa-miR-124-3p	ELISA, qRT-PCR, Immunoblot, Luciferase reporter assay	23979021
MIRT054717	hsa-miR-152-3p	ELISA, Luciferase reporter assay/qRT-PCR, Western blot	24813629
MIRT007275	hsa-miR-145-5p	Immunohistochemistry	23548270
MIRT054717	hsa-miR-152-3p	H157	24780186
MIRT054717	hsa-miR-152-3p	H157	24780186
MIRT438130	hsa-miR-26a-5p	Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24375761
MIRT438130	hsa-miR-26a-5p	Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24375761
MIRT438130	hsa-miR-26a-5p	Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24375761
MIRT438130	hsa-miR-26a-5p	Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24375761
MIRT715612	hsa-miR-302a-3p	HITS-CLIP	19536157
MIRT715611	hsa-miR-302b-3p	HITS-CLIP	19536157
MIRT715610	hsa-miR-302c-3p	HITS-CLIP	19536157
MIRT715609	hsa-miR-302d-3p	HITS-CLIP	19536157
MIRT715608	hsa-miR-302e	HITS-CLIP	19536157
MIRT715607	hsa-miR-372-3p	HITS-CLIP	19536157
MIRT715606	hsa-miR-373-3p	HITS-CLIP	19536157
MIRT715605	hsa-miR-520a-3p	HITS-CLIP	19536157
MIRT715604	hsa-miR-520b	HITS-CLIP	19536157
MIRT715603	hsa-miR-520c-3p	HITS-CLIP	19536157
MIRT715602	hsa-miR-520d-3p	HITS-CLIP	19536157
MIRT715601	hsa-miR-520e	HITS-CLIP	19536157
MIRT715600	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT715599	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT715598	hsa-miR-512-3p	HITS-CLIP	19536157
MIRT715597	hsa-miR-3691-3p	HITS-CLIP	19536157
MIRT715596	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT715595	hsa-miR-5695	HITS-CLIP	19536157
MIRT715594	hsa-miR-6722-5p	HITS-CLIP	19536157
MIRT715593	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715592	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT705939	hsa-miR-649	HITS-CLIP	23313552
MIRT705938	hsa-miR-181a-5p	HITS-CLIP	23313552
MIRT705937	hsa-miR-181b-5p	HITS-CLIP	23313552
MIRT705936	hsa-miR-181c-5p	HITS-CLIP	23313552
MIRT705935	hsa-miR-181d-5p	HITS-CLIP	23313552
MIRT705934	hsa-miR-4262	HITS-CLIP	23313552
MIRT705933	hsa-miR-1323	HITS-CLIP	23313552
MIRT705932	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT705931	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT705930	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT705929	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT705928	hsa-miR-5580-5p	HITS-CLIP	23313552
MIRT705926	hsa-miR-4284	HITS-CLIP	23313552
MIRT705927	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT705924	hsa-miR-3652	HITS-CLIP	23313552
MIRT705925	hsa-miR-4430	HITS-CLIP	23313552
MIRT705923	hsa-miR-4505	HITS-CLIP	23313552
MIRT705922	hsa-miR-5787	HITS-CLIP	23313552
MIRT705921	hsa-miR-130a-5p	HITS-CLIP	23313552
MIRT705920	hsa-miR-23a-3p	HITS-CLIP	23313552
MIRT705919	hsa-miR-23b-3p	HITS-CLIP	23313552
MIRT705918	hsa-miR-23c	HITS-CLIP	23313552
MIRT705917	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT705916	hsa-miR-129-5p	HITS-CLIP	23313552
MIRT007275	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT624817	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT624816	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT624815	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT624814	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT624813	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT624812	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT624811	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT624810	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT624809	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT007275	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT624817	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT624816	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT624815	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT624814	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT624813	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT624812	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT624811	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT624810	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT624809	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT503192	hsa-miR-4465	PAR-CLIP	24398324
MIRT503191	hsa-miR-1297	PAR-CLIP	24398324
MIRT438130	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT503190	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT503189	hsa-miR-6882-5p	PAR-CLIP	24398324
MIRT503188	hsa-miR-5697	PAR-CLIP	24398324
MIRT441264	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441264	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT732080	hsa-miR-338-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617808
MIRT732080	hsa-miR-338-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617808
MIRT715612	hsa-miR-302a-3p	HITS-CLIP	19536157
MIRT715611	hsa-miR-302b-3p	HITS-CLIP	19536157
MIRT715610	hsa-miR-302c-3p	HITS-CLIP	19536157
MIRT715609	hsa-miR-302d-3p	HITS-CLIP	19536157
MIRT715608	hsa-miR-302e	HITS-CLIP	19536157
MIRT715607	hsa-miR-372-3p	HITS-CLIP	19536157
MIRT715606	hsa-miR-373-3p	HITS-CLIP	19536157
MIRT715605	hsa-miR-520a-3p	HITS-CLIP	19536157
MIRT715604	hsa-miR-520b	HITS-CLIP	19536157
MIRT715603	hsa-miR-520c-3p	HITS-CLIP	19536157
MIRT715602	hsa-miR-520d-3p	HITS-CLIP	19536157
MIRT715601	hsa-miR-520e	HITS-CLIP	19536157
MIRT715600	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT715599	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT715598	hsa-miR-512-3p	HITS-CLIP	19536157
MIRT715597	hsa-miR-3691-3p	HITS-CLIP	19536157
MIRT715596	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT715595	hsa-miR-5695	HITS-CLIP	19536157
MIRT715594	hsa-miR-6722-5p	HITS-CLIP	19536157
MIRT715593	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715592	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT705939	hsa-miR-649	HITS-CLIP	23313552
MIRT705938	hsa-miR-181a-5p	HITS-CLIP	23313552
MIRT705937	hsa-miR-181b-5p	HITS-CLIP	23313552
MIRT705936	hsa-miR-181c-5p	HITS-CLIP	23313552
MIRT705935	hsa-miR-181d-5p	HITS-CLIP	23313552
MIRT705934	hsa-miR-4262	HITS-CLIP	23313552
MIRT705933	hsa-miR-1323	HITS-CLIP	23313552
MIRT705932	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT705931	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT705930	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT705929	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT705928	hsa-miR-5580-5p	HITS-CLIP	23313552
MIRT705926	hsa-miR-4284	HITS-CLIP	23313552
MIRT705927	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT705924	hsa-miR-3652	HITS-CLIP	23313552
MIRT705925	hsa-miR-4430	HITS-CLIP	23313552
MIRT705923	hsa-miR-4505	HITS-CLIP	23313552
MIRT705922	hsa-miR-5787	HITS-CLIP	23313552
MIRT705921	hsa-miR-130a-5p	HITS-CLIP	23313552
MIRT705920	hsa-miR-23a-3p	HITS-CLIP	23313552
MIRT705919	hsa-miR-23b-3p	HITS-CLIP	23313552
MIRT705918	hsa-miR-23c	HITS-CLIP	23313552
MIRT705917	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT705916	hsa-miR-129-5p	HITS-CLIP	23313552
MIRT007275	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT624817	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT624816	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT624815	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT624814	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT624813	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT624812	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT624811	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT624810	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT624809	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT007275	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT624817	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT624816	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT624815	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT624814	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT624813	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT624812	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT624811	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT624810	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT624809	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT503192	hsa-miR-4465	PAR-CLIP	24398324
MIRT503191	hsa-miR-1297	PAR-CLIP	24398324
MIRT438130	hsa-miR-26a-5p	PAR-CLIP	24398324
MIRT503190	hsa-miR-26b-5p	PAR-CLIP	24398324
MIRT503189	hsa-miR-6882-5p	PAR-CLIP	24398324
MIRT503188	hsa-miR-5697	PAR-CLIP	24398324
MIRT765968	hsa-miR-122	CLIP-seq
MIRT765969	hsa-miR-140-3p	CLIP-seq
MIRT765970	hsa-miR-142-3p	CLIP-seq
MIRT765971	hsa-miR-148a	CLIP-seq
MIRT765972	hsa-miR-148b	CLIP-seq
MIRT765973	hsa-miR-152	CLIP-seq
MIRT765974	hsa-miR-3135b	CLIP-seq
MIRT765975	hsa-miR-3140-3p	CLIP-seq
MIRT765976	hsa-miR-3163	CLIP-seq
MIRT765977	hsa-miR-3664-5p	CLIP-seq
MIRT765978	hsa-miR-3677-5p	CLIP-seq
MIRT765979	hsa-miR-4280	CLIP-seq
MIRT765980	hsa-miR-4446-5p	CLIP-seq
MIRT765981	hsa-miR-450b-5p	CLIP-seq
MIRT765982	hsa-miR-4639-3p	CLIP-seq
MIRT765983	hsa-miR-4697-3p	CLIP-seq
MIRT765984	hsa-miR-4755-5p	CLIP-seq
MIRT765985	hsa-miR-507	CLIP-seq
MIRT765986	hsa-miR-544	CLIP-seq
MIRT765987	hsa-miR-548a-3p	CLIP-seq
MIRT765988	hsa-miR-548ae	CLIP-seq
MIRT765989	hsa-miR-548aj	CLIP-seq
MIRT765990	hsa-miR-548am	CLIP-seq
MIRT765991	hsa-miR-548e	CLIP-seq
MIRT765992	hsa-miR-548f	CLIP-seq
MIRT765993	hsa-miR-548x	CLIP-seq
MIRT765994	hsa-miR-557	CLIP-seq
MIRT765995	hsa-miR-568	CLIP-seq
MIRT765996	hsa-miR-767-5p	CLIP-seq
MIRT765968	hsa-miR-122	CLIP-seq
MIRT765970	hsa-miR-142-3p	CLIP-seq
MIRT765974	hsa-miR-3135b	CLIP-seq
MIRT765978	hsa-miR-3677-5p	CLIP-seq
MIRT765979	hsa-miR-4280	CLIP-seq
MIRT1925698	hsa-miR-4474-5p	CLIP-seq
MIRT1925699	hsa-miR-4777-5p	CLIP-seq
MIRT1925700	hsa-miR-518d-5p	CLIP-seq
MIRT1925701	hsa-miR-519b-5p	CLIP-seq
MIRT1925702	hsa-miR-519c-5p	CLIP-seq
MIRT1925703	hsa-miR-520c-5p	CLIP-seq
MIRT1925704	hsa-miR-526a	CLIP-seq
MIRT1925705	hsa-miR-545	CLIP-seq
MIRT765987	hsa-miR-548a-3p	CLIP-seq
MIRT765988	hsa-miR-548ae	CLIP-seq
MIRT765989	hsa-miR-548aj	CLIP-seq
MIRT765990	hsa-miR-548am	CLIP-seq
MIRT765991	hsa-miR-548e	CLIP-seq
MIRT765992	hsa-miR-548f	CLIP-seq
MIRT765993	hsa-miR-548x	CLIP-seq
MIRT765968	hsa-miR-122	CLIP-seq
MIRT765970	hsa-miR-142-3p	CLIP-seq
MIRT765971	hsa-miR-148a	CLIP-seq
MIRT765972	hsa-miR-148b	CLIP-seq
MIRT765973	hsa-miR-152	CLIP-seq
MIRT765974	hsa-miR-3135b	CLIP-seq
MIRT765976	hsa-miR-3163	CLIP-seq
MIRT765977	hsa-miR-3664-5p	CLIP-seq
MIRT765978	hsa-miR-3677-5p	CLIP-seq
MIRT765979	hsa-miR-4280	CLIP-seq
MIRT765980	hsa-miR-4446-5p	CLIP-seq
MIRT1925698	hsa-miR-4474-5p	CLIP-seq
MIRT765982	hsa-miR-4639-3p	CLIP-seq
MIRT2167096	hsa-miR-4643	CLIP-seq
MIRT765983	hsa-miR-4697-3p	CLIP-seq
MIRT765984	hsa-miR-4755-5p	CLIP-seq
MIRT1925699	hsa-miR-4777-5p	CLIP-seq
MIRT1925700	hsa-miR-518d-5p	CLIP-seq
MIRT1925701	hsa-miR-519b-5p	CLIP-seq
MIRT1925702	hsa-miR-519c-5p	CLIP-seq
MIRT1925703	hsa-miR-520c-5p	CLIP-seq
MIRT1925704	hsa-miR-526a	CLIP-seq
MIRT2167097	hsa-miR-587	CLIP-seq
MIRT2167098	hsa-miR-634	CLIP-seq
MIRT765968	hsa-miR-122	CLIP-seq
MIRT765970	hsa-miR-142-3p	CLIP-seq
MIRT765974	hsa-miR-3135b	CLIP-seq
MIRT765978	hsa-miR-3677-5p	CLIP-seq
MIRT765979	hsa-miR-4280	CLIP-seq
MIRT2425929	hsa-miR-105	CLIP-seq
MIRT2425930	hsa-miR-1279	CLIP-seq
MIRT2425931	hsa-miR-145	CLIP-seq
MIRT765976	hsa-miR-3163	CLIP-seq
MIRT2425932	hsa-miR-4719	CLIP-seq
MIRT765995	hsa-miR-568	CLIP-seq
MIRT2425933	hsa-miR-582-5p	CLIP-seq
MIRT2469581	hsa-miR-1208	CLIP-seq
MIRT765968	hsa-miR-122	CLIP-seq
MIRT2469582	hsa-miR-129-3p	CLIP-seq
MIRT765970	hsa-miR-142-3p	CLIP-seq
MIRT2469583	hsa-miR-188-5p	CLIP-seq
MIRT2469584	hsa-miR-194	CLIP-seq
MIRT2469585	hsa-miR-302a	CLIP-seq
MIRT2469586	hsa-miR-302b	CLIP-seq
MIRT2469587	hsa-miR-302c	CLIP-seq
MIRT2469588	hsa-miR-302d	CLIP-seq
MIRT2469589	hsa-miR-3127-5p	CLIP-seq
MIRT765974	hsa-miR-3135b	CLIP-seq
MIRT765976	hsa-miR-3163	CLIP-seq
MIRT2469590	hsa-miR-340	CLIP-seq
MIRT2469591	hsa-miR-3529	CLIP-seq
MIRT2469592	hsa-miR-3606	CLIP-seq
MIRT2469593	hsa-miR-3651	CLIP-seq
MIRT765978	hsa-miR-3677-5p	CLIP-seq
MIRT2469594	hsa-miR-3713	CLIP-seq
MIRT2469595	hsa-miR-371b-5p	CLIP-seq
MIRT2469596	hsa-miR-372	CLIP-seq
MIRT2469597	hsa-miR-373	CLIP-seq
MIRT2469598	hsa-miR-379	CLIP-seq
MIRT2469599	hsa-miR-3918	CLIP-seq
MIRT2469600	hsa-miR-412	CLIP-seq
MIRT2469601	hsa-miR-4263	CLIP-seq
MIRT2469602	hsa-miR-4272	CLIP-seq
MIRT765979	hsa-miR-4280	CLIP-seq
MIRT2469603	hsa-miR-4438	CLIP-seq
MIRT2469604	hsa-miR-4451	CLIP-seq
MIRT2469605	hsa-miR-4464	CLIP-seq
MIRT1925698	hsa-miR-4474-5p	CLIP-seq
MIRT2469606	hsa-miR-4650-3p	CLIP-seq
MIRT2469607	hsa-miR-4687-5p	CLIP-seq
MIRT2469608	hsa-miR-4698	CLIP-seq
MIRT2469609	hsa-miR-4699-5p	CLIP-seq
MIRT2469610	hsa-miR-4724-3p	CLIP-seq
MIRT2469611	hsa-miR-4731-5p	CLIP-seq
MIRT2469612	hsa-miR-4748	CLIP-seq
MIRT2469613	hsa-miR-4766-5p	CLIP-seq
MIRT1925699	hsa-miR-4777-5p	CLIP-seq
MIRT2469614	hsa-miR-4794	CLIP-seq
MIRT2469615	hsa-miR-5095	CLIP-seq
MIRT1925700	hsa-miR-518d-5p	CLIP-seq
MIRT1925701	hsa-miR-519b-5p	CLIP-seq
MIRT1925702	hsa-miR-519c-5p	CLIP-seq
MIRT1925703	hsa-miR-520c-5p	CLIP-seq
MIRT1925704	hsa-miR-526a	CLIP-seq
MIRT1925705	hsa-miR-545	CLIP-seq
MIRT765987	hsa-miR-548a-3p	CLIP-seq
MIRT2469616	hsa-miR-548aa	CLIP-seq
MIRT765988	hsa-miR-548ae	CLIP-seq
MIRT2469617	hsa-miR-548ag	CLIP-seq
MIRT2469618	hsa-miR-548ai	CLIP-seq
MIRT765989	hsa-miR-548aj	CLIP-seq
MIRT765990	hsa-miR-548am	CLIP-seq
MIRT765991	hsa-miR-548e	CLIP-seq
MIRT765992	hsa-miR-548f	CLIP-seq
MIRT765993	hsa-miR-548x	CLIP-seq
MIRT2469619	hsa-miR-576-5p	CLIP-seq
MIRT2167097	hsa-miR-587	CLIP-seq
MIRT2469620	hsa-miR-802	CLIP-seq
MIRT2469621	hsa-miR-876-3p	CLIP-seq
MIRT2469622	hsa-miR-892b	CLIP-seq
MIRT2469581	hsa-miR-1208	CLIP-seq
MIRT765968	hsa-miR-122	CLIP-seq
MIRT2469582	hsa-miR-129-3p	CLIP-seq
MIRT765970	hsa-miR-142-3p	CLIP-seq
MIRT2469583	hsa-miR-188-5p	CLIP-seq
MIRT2469584	hsa-miR-194	CLIP-seq
MIRT2469585	hsa-miR-302a	CLIP-seq
MIRT2469586	hsa-miR-302b	CLIP-seq
MIRT2469587	hsa-miR-302c	CLIP-seq
MIRT2469588	hsa-miR-302d	CLIP-seq
MIRT2469589	hsa-miR-3127-5p	CLIP-seq
MIRT765974	hsa-miR-3135b	CLIP-seq
MIRT765976	hsa-miR-3163	CLIP-seq
MIRT2469590	hsa-miR-340	CLIP-seq
MIRT2469591	hsa-miR-3529	CLIP-seq
MIRT2469592	hsa-miR-3606	CLIP-seq
MIRT2469593	hsa-miR-3651	CLIP-seq
MIRT765978	hsa-miR-3677-5p	CLIP-seq
MIRT2469594	hsa-miR-3713	CLIP-seq
MIRT2469595	hsa-miR-371b-5p	CLIP-seq
MIRT2469596	hsa-miR-372	CLIP-seq
MIRT2469597	hsa-miR-373	CLIP-seq
MIRT2469598	hsa-miR-379	CLIP-seq
MIRT2469599	hsa-miR-3918	CLIP-seq
MIRT2469600	hsa-miR-412	CLIP-seq
MIRT2469601	hsa-miR-4263	CLIP-seq
MIRT2469602	hsa-miR-4272	CLIP-seq
MIRT765979	hsa-miR-4280	CLIP-seq
MIRT2469603	hsa-miR-4438	CLIP-seq
MIRT2469604	hsa-miR-4451	CLIP-seq
MIRT2469606	hsa-miR-4650-3p	CLIP-seq
MIRT2469607	hsa-miR-4687-5p	CLIP-seq
MIRT2469608	hsa-miR-4698	CLIP-seq
MIRT2469609	hsa-miR-4699-5p	CLIP-seq
MIRT2469611	hsa-miR-4731-5p	CLIP-seq
MIRT2469613	hsa-miR-4766-5p	CLIP-seq
MIRT2469614	hsa-miR-4794	CLIP-seq
MIRT2469615	hsa-miR-5095	CLIP-seq
MIRT1925705	hsa-miR-545	CLIP-seq
MIRT765987	hsa-miR-548a-3p	CLIP-seq
MIRT2469616	hsa-miR-548aa	CLIP-seq
MIRT765988	hsa-miR-548ae	CLIP-seq
MIRT765989	hsa-miR-548aj	CLIP-seq
MIRT765990	hsa-miR-548am	CLIP-seq
MIRT765991	hsa-miR-548e	CLIP-seq
MIRT765992	hsa-miR-548f	CLIP-seq
MIRT765993	hsa-miR-548x	CLIP-seq
MIRT2469619	hsa-miR-576-5p	CLIP-seq
MIRT2167097	hsa-miR-587	CLIP-seq
MIRT2469620	hsa-miR-802	CLIP-seq
MIRT2469622	hsa-miR-892b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	22705645
SP1	Unknown	19772640

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001666	Process	Response to hypoxia	IDA	18276953
GO:0002446	Process	Neutrophil mediated immunity	IC	16034137
GO:0002467	Process	Germinal center formation	IEA
GO:0002467	Process	Germinal center formation	ISS	10433800
GO:0002532	Process	Production of molecular mediator involved in inflammatory response	IEA
GO:0002690	Process	Positive regulation of leukocyte chemotaxis	IC	16034137
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004175	Function	Endopeptidase activity	IMP	24990881, 25049354
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	9774383, 9920899, 14625290, 15691827, 17010968, 18355445, 24226769, 24337742, 36476876
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IMP	9034190, 9034191
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005112	Function	Notch binding	IDA	24226769
GO:0005138	Function	Interleukin-6 receptor binding	IPI	16034137
GO:0005178	Function	Integrin binding	IPI	14970227
GO:0005515	Function	Protein binding	IPI	9774383, 10527948, 12668732, 15280379, 18355445, 18625725, 18638486, 22246777, 22413019, 29897336, 30455686, 32405532
GO:0005737	Component	Cytoplasm	IDA	25468996
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17786981, 24337742
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	14970227
GO:0005925	Component	Focal adhesion	IDA	14970227
GO:0006508	Process	Proteolysis	IDA	24227843
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IBA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	9034190, 9574564, 14625290, 15691827, 17010968, 17786981, 18355445, 18676862, 24337742, 36476876
GO:0006509	Process	Membrane protein ectodomain proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IMP	9034191, 12743035, 16034137, 18373975, 21170088, 24990881
GO:0007155	Process	Cell adhesion	IDA	14970227
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	18483258
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007220	Process	Notch receptor processing	IDA	24226769
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	TAS	24966471
GO:0008237	Function	Metallopeptidase activity	IDA	12777399
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IMP	12535668
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18373975
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009410	Process	Response to xenobiotic stimulus	ISS	10433800
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0009986	Component	Cell surface	IDA	9034190, 18383040, 18625725
GO:0010820	Process	Positive regulation of T cell chemotaxis	IMP	18373975
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0015629	Component	Actin cytoskeleton	IDA	17010968
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	16034137
GO:0016485	Process	Protein processing	IDA	9774383
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019955	Function	Cytokine binding	IPI	12777399
GO:0023061	Process	Signal release	IDA	12777399
GO:0030165	Function	PDZ domain binding	IPI	12207026
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	ISS	10433800
GO:0030307	Process	Positive regulation of cell growth	IMP	18373975
GO:0030335	Process	Positive regulation of cell migration	IDA	26617808
GO:0030335	Process	Positive regulation of cell migration	IMP	18373975
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	21170088
GO:0032496	Process	Response to lipopolysaccharide	IDA	18383040
GO:0032587	Component	Ruffle membrane	IDA	14970227
GO:0032722	Process	Positive regulation of chemokine production	IMP	16034137
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	12777399, 18355445
GO:0033025	Process	Regulation of mast cell apoptotic process	IEA
GO:0033025	Process	Regulation of mast cell apoptotic process	ISS	10433800
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS	10433800
GO:0033627	Process	Cell adhesion mediated by integrin	IDA	14970227
GO:0035313	Process	Wound healing, spreading of epidermal cells	IEP	14970227
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	9774383
GO:0043120	Function	Tumor necrosis factor binding	IDA	25049354
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	18483258
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IDA	24813629
GO:0045121	Component	Membrane raft	IDA	17010968, 17786981
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IDA	12743035
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IMP	17655843
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	ISS	10433800
GO:0046872	Function	Metal ion binding	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048536	Process	Spleen development	ISS	10433800
GO:0048679	Process	Regulation of axon regeneration	IEA
GO:0048870	Process	Cell motility	IEA
GO:0048870	Process	Cell motility	ISS	10433800
GO:0050830	Process	Defense response to Gram-positive bacterium	IMP	16034137
GO:0070573	Function	Metallodipeptidase activity	IEA
GO:0071403	Process	Cellular response to high density lipoprotein particle stimulus	IDA	17786981
GO:0071679	Process	Commissural neuron axon guidance	IMP	36476876
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	18687778
GO:0140447	Process	Cytokine precursor processing	IDA	24813629
GO:0140448	Process	Signaling receptor ligand precursor processing	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	18483258
GO:1902945	Function	Metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IDA	9774383
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IDA	18355445
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IMP	24813629
GO:1905564	Process	Positive regulation of vascular endothelial cell proliferation	IDA	24813629
GO:2001222	Process	Regulation of neuron migration	IEA

Other IDs

• MIM: 603639
• HGNC: 195
• e!Ensembl: ENSG00000151694

Protein

• UniProt ID: P78536
• Protein name: Disintegrin and metalloproteinase domain-containing protein 17 (ADAM 17) (EC 3.4.24.86) (Snake venom-like protease) (TNF-alpha convertase) (TNF-alpha-converting enzyme) (CD antigen CD156b)
• Protein function: Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins including adhesion proteins, growth factor precursors and cytokines important for inflammation and immunity (PubMed:24226769, PubMed:24227
• PDB: 1BKC, 1ZXC, 2A8H, 2DDF, 2FV5, 2FV9, 2I47, 2M2F, 2OI0, 3B92, 3CKI, 3E8R, 3EDZ, 3EWJ, 3G42, 3KMC, 3KME, 3L0T, 3L0V, 3LE9, 3LEA, 3LGP, 3O64, 8CQY, 8SNL, 8SNN, 8SNO, 9E6K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	31 → 167	Reprolysin family propeptide	Family
  PF13688	Reprolysin_5	221 → 451		Family
  PF00200	Disintegrin	484 → 558	Disintegrin	Domain
  PF16698	ADAM17_MPD	581 → 642	Membrane-proximal domain, switch, for ADAM17	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at highest levels in adult heart, placenta, skeletal muscle, pancreas, spleen, thymus, prostate, testes, ovary and small intestine, and in fetal brain, lung, liver and kidney. Expressed in natural kill
• Sequence:

  MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDL
  QTSTHVETLLTFSALKRHFKLYLTSSTERFSQNFKVVVVDGKNESEYTVKWQDFFTGHVV
  GEPDSRVLAHIRDDDVIIRINTDGAEYNIEPLWRFVNDTKDKRMLVYKSEDIKNVSRLQS
  PKVCGYLKVDNEELLPKGLVDREPPEELVHRVKRRADPDPMKNTCKLLVVADHRFYRYMG
  RGEESTTTNYLIELIDRVDDIYRNTSWDNAGFKGYGIQIEQIRILKSPQEVKPGEKHYNM
  AKSYPNEEKDAWDVKMLLEQFSFDIAEEASKVCLAHLFTYQDFDMGTLGLAYVGSPRANS
  HGGVCPKAYYSPVGKKNIYLNSGLTSTKNYGKTILTKEADLVTTHELGHNFGAEHDPDGL
  AECAPNEDQGGKYVMYPIAVSGDHENNKMFSNCSKQSIYKTIESKAQECFQERSNKVCGN
  SRVDEGEECDPGIMYLNNDTCCNSDCTLKEGVQCSDRNSPCCKNCQFETAQKKCQEAINA
  TCKGVSYCTGNSSECPPPGNAEDDTVCLDLGKCKDGKCIPFCEREQQLESCACNETDNSC
  KVCCRDLSGRCVPYVDAEQKNLFLRKGKPCTVGFCDMNGKCEKRVQDVIERFWDFIDQLS
  INTFGKFLADNIVGSVLVFSLIFWIPFSILVHCVDKKLDKQYESLSLFHPSNVEMLSSMD
  SASVRIIKPFPAPQTPGRLQPAPVIPSAPAAPKLDHQRMDTIQEDPSTDSHMDEDGFEKD
  PFPNSSTAAKSFEDLTDHPVTRSEKAASFKLQRQNRVDSKETEC

• Sequence length: 824

Pathways

KEGG:

Efferocytosis
Notch signaling pathway
TNF signaling pathway
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
Coronavirus disease - COVID-19

Reactome:

Regulated proteolysis of p75NTR
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
TNF signaling
CD163 mediating an anti-inflammatory response

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
Inflammatory skin and bowel disease, neonatal, 1	Pathogenic; Likely pathogenic	rs2124999155, rs1000050918, rs2531219086, rs2531099938, rs2531170933, rs2531193329, rs2527361700, rs2531219268, rs1558514834, rs1249324100, rs2527328347, rs2527387206, rs387906866, rs1572897958, rs1662434135, rs1662343008	RCV001999991 RCV001959005 RCV002283667 RCV002596847 RCV002626140 RCV003016905 RCV003008253 RCV003529655 RCV003527892 RCV003643679 RCV003643963 RCV003643979 RCV003644283 RCV000023322 RCV000793588 RCV001063094 RCV001057483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal inflammatory skin and bowel disease	Likely pathogenic; Pathogenic	rs2531099938	RCV005370239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADAM17-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLISTER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mycobacterium tuberculosis, susceptibility to	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	29029414		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26111641, 28960861, 30833304, 31257400, 31438559		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	29411180		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	26250527		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21368376, 29988083, 30045751	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	24685635	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	29988083		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	16982746, 24520077, 28554668		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29930147		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	24853957	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	24853957, 28947615, 29499360		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	29930147		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21984580, 24412389, 24727681, 24813629, 28062509, 29097110, 29874690, 31390228		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	29932521, 32962750	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12061836, 28815577, 31822434		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12237470, 16079149, 24314260, 30071898	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28823868		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16481637	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28703301		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33455043, 35130903	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21984580, 24412389, 24727681, 24813629, 28062509, 29097110, 29874690, 31390228		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24727681	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22513453, 25171914, 25386842		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	20603312		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	28049760	Stimulate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	24839254		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28049760		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	17355261, 19395875		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19395875	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15784625, 17218988, 17438092, 18625725, 19395875, 21203579, 21480393, 22509934, 27221510, 27573075, 28232483, 28703301, 28982863, 29393483		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15565459	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16251361, 17218988, 17227756, 18238782, 18625725, 19395875, 21240579, 22967992, 24736554, 26260680, 28232483, 32986377, 34281556	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis Chronic	Bronchitis	Pubtator	39682757	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	37427430	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19843672, 36813090	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16041691		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15309730, 30297396, 32210451, 38069391	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39346916	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	30188954	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22291012, 29308299, 30617444, 30833304, 31438559		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24520077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23441135, 23659326	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16000575, 18171982, 28232483, 29662625		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	22010916	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10385500		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10385500		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31141400		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	38199832	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24727681	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17355261, 19395875, 21480393		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	25788529	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35223192	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	BEFREE	29797068		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	29181054		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29369823, 29561187, 30102333, 31141400, 31780737		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	29540993		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29540993		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	31261491		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24685635	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36229517	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	24685635	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CTD_human_DG	24548422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis	Colitis	BEFREE	27077118, 29560122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	16041691, 27489286, 27837433, 27874952, 28349819, 31060243		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27489286		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21148749, 22677042, 23173124, 24520077, 24931611, 28349819, 29029414		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18281553		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21855041, 22665490, 26744411, 27110571, 27874952, 30069943, 32450419, 34576100, 34726248, 36270986, 39644618	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24520077	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26217090		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31129660		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	18442814, 21153921, 29097110, 31154904		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	31469350		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23441135, 29181054		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29097110		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18600307, 29097110		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29097110		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17001292, 18493210, 19299578, 29718341		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19299578, 36621146	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29351448, 29540993		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	29351448	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11508576, 16806998, 25846075, 30071898, 9574564		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	23500026		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	25804906	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	27586798		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	22284418, 25902485, 30738053		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	29411180		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29561187		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29561187		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29561187	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17714581, 36018759	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19633828, 23811853, 29561187	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27629486		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19633828, 28985514, 29561187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	25788529	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	26990852	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23401241, 29221422, 29361535, 31344701		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	25804906	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	30371773		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	31006330		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30211317		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22284418, 25902485, 30738053		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27277261		★☆☆☆☆ Found in Text Mining only
Endocrine Gland Neoplasms	Endocrine Gland Neoplasms	LHGDN	18426733		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30395261		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	37427430	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18171982		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	25912030		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25966212	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25351873, 25966212, 36813090	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25840998	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28751722		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23703665, 25744849, 31839486		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19432809, 24412389, 31662485, 31662486		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	30371773		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19298600		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	19298600	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	23360525		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19657395, 27541285, 31142630, 32326230, 37175410	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23356982, 27541285, 29146721, 29700308		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23356982, 27541285, 29700308		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17355261, 19395875, 19772640, 21359495, 21480393		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19395875, 19772640, 21359495, 24185966, 29131255, 36639372	Associate	★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	17355261		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	19535569	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	19435795	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	23659326	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17001292		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19843672, 21102583, 23548270		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19843672, 21102583	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	15556048	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21153921, 29097110, 31154904		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	27307158		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	26217090	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21240579	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	24738885		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	27093376	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	29056164		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	25294851		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	31780737		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24014829, 27993561, 28512108, 28947615, 31006330, 31141400		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	16401770		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16278664, 19772640	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27093376	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29869625, 31469350		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29097110		★☆☆☆☆ Found in Text Mining only
Immunodeficiency without anhidrotic ectodermal dysplasia	Immunodeficiency Without Anhidrotic Ectodermal Dysplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24495306		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	34944080	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	14678276, 19082505, 29230082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	14678276, 22010916, 33359885	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory dermatosis	Dermatitis	BEFREE	27586798		★☆☆☆☆ Found in Text Mining only
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1	Inflammatory Skin And Bowel Disease	GENOMICS_ENGLAND_DG	20603312, 22236242		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1	Inflammatory Skin And Bowel Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1	Inflammatory Skin And Bowel Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19633828, 19819120, 21984580, 36018759	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	31060243		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	22010916		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	29472497		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31578633		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29980709		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	29980709	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	24727681		★☆☆☆☆ Found in Text Mining only
Isolated Systolic Hypertension	Isolated systolic hypertension	Pubtator	25804906	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Diffuse	Palmoplantar keratoderma	BEFREE	24738885		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	19535569, 23401241, 25294851, 31141400		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	19535569, 25788529	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23441135, 23659326	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	27173353		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17716379	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19704010, 22705645, 23791922, 27307158		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20679348	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25246708		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30647765		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24495306		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15309730, 20922190, 23625205, 25174729, 25520081, 27277261, 27562480, 27824665, 28076848, 28154910, 28178663, 28442142, 28629564, 28797231, 28829499, 28863147, 28901321, 28903370, 28934265, 29063856, 29086058, 29163828, 29289495, 29383518, 29400599, 29436101, 29444164, 29587773, 29622387, 29720249, 29872894, 29873070, 29922932, 29966664, 29970890, 29987957, 30075752, 30113926, 30171360, 30249879, 30282074, 30297396, 30332553, 30334525, 30394145, 30627020, 30647765, 30767178, 30824840, 30862264, 30863165, 30907468, 31005173, 31053181, 31079496, 31128018, 31185950, 31261491, 31332502, 31341898, 31455987, 31567959, 31598173, 31602168, 31611551, 31646378, 31709778		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15309730		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15309730, 31261491, 31662486		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	19432809	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	19432809	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	26850359		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29424893, 29850939		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29411180, 29525842, 31469350		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25363527	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27237127		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27237127		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27237127, 28063160		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29369823		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27237127		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21102583, 24793016, 25351873, 30569104	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23475633, 25966212	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22473939	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22473939		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29131255		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	19843672, 21102583, 23548270		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15784625, 16251361, 17218988, 17438092, 18625725, 19395875, 21203579, 21480393, 21501859, 22509934, 27221510, 27573075, 28232483, 28703301, 28982863, 29393483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24738885		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23441135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25520081, 30005719, 30148147, 30226882, 30282074, 30297396, 30394145		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22291012, 29308299, 30617444, 30833304, 31438559		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24495306		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16000575, 28232483, 29662625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28554668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21175594, 21837402, 22200661, 31118688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21435459, 22139867, 25499189, 27779657, 27878499, 29180185, 30371773, 30569104		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15309730, 16912185, 17169360, 18996214, 19843672, 20871631, 21480393, 22139867, 22200661, 22509934, 23415892, 23441135, 23545805, 24780758, 26535007, 26744411, 27076628, 27221510, 27489286, 27541285, 27573075, 27895032, 28705384, 29097110, 29131255, 29230082, 29393483, 29662625, 29700308, 30065191, 30102846, 30992230, 31060243, 31141400, 31257400, 31438559, 31593799, 31694340		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21855041, 27489286, 27837433, 27874952, 28349819, 31060243		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15784625, 21240579, 27554339		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15784625, 17438092, 18238782, 18426733, 18625725		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18971959, 23645517, 25491779, 34224305	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19003995, 23645517, 29124381		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	35262190	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30211317		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22389670		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22389670	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12474981, 16900751, 19324423		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	12474981, 16900751		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	38325197	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22284418		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15603556		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	11028485		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	11028485, 22010916	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29411180, 29525842		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27012683		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31433128, 31810117		★☆☆☆☆ Found in Text Mining only
Neonatal inflammatory skin and bowel disease	Inflammatory Skin And Bowel Disease	ORPHANET_DG	22010916		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal inflammatory skin and bowel disease	Inflammatory Skin And Bowel Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	12606576, 16000575, 16041691, 16782893, 18996214, 19298600, 19515085, 19772640, 19843672, 21102583, 21148749, 21240579, 22139867, 22772468, 23475633, 23526433, 23625205, 23645517, 24008668, 24495306, 24626788, 25351873, 25622187, 27076628, 27221510, 27489286, 27692848, 27824665, 27878499, 28154910, 28160627, 28178663, 28422858, 28484824, 28500458, 28828899, 28840307, 28993945, 29180185, 29230082, 29308299, 29393483, 29424893, 29436101, 29587773, 29720249, 29966664, 30009514, 30075752, 30863165, 30907468, 31060243, 31079496, 31209620, 31287338, 31332502, 31447948, 31598173, 31720806		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16762326, 20506406, 23257508		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19959661	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36229517	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30481294		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25744849		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16843264, 23475633, 24626788, 24780186, 25363527, 27076628, 30026855, 30355915, 31442576, 31450127		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12031976, 19633828, 19819120		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19819120	Associate	★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16806998	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26605780, 29923217		★☆☆☆☆ Found in Text Mining only
Otitis Externa	Otitis Externa	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16000575, 28232483, 29662625		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18171982		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21175594, 24518602, 28232483, 28387913, 32851734	Associate	★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	Nonepidermolytic palmoplantar keratoderma	BEFREE	24738885		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28554668		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	16982746		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19603023, 33498866	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	31507587	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	25294851		★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	31507587	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30941646		★☆☆☆☆ Found in Text Mining only
Paronychia Inflammation	Paronychia Inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	29434796		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	21777519	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	23360525		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	21777519, 27815441	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	23360525, 23511008, 27815441		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	17207628, 29411180		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	31287338		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21175594, 21837402, 22200661, 31118688		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14532978		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24385212, 33204367	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	27941799		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15888146, 24574341, 25384035, 28818461		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	15121636, 21861887, 27561911, 39682757	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29411180, 29902535, 31469350		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	23441135		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23441135, 29181054		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	36293469	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11508576, 14718605, 20871631, 25013379, 29230082, 29776906, 30071898, 31369701		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	19292764	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28993945		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	22590542, 28049760	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28049760		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	16014681	Stimulate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26744411		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	25867908	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27607600, 28487846		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	24227843		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	22157716, 33446013	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	25804906	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	25384035, 25804906		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	22772468		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12743035		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21102583, 22772468, 24495306, 29171106, 31207072		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25351873		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21102583	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27349552, 29171106, 38063205	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25013379		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28751722		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21435459, 22139867, 25499189, 27779657, 27878499, 29180185, 30371773, 30569104		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21435459, 24008668, 25499189, 26617808, 30569104, 36430322	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	19395875, 24727681	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	30627328		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16014681		★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	29932521	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	32423094	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22967992, 23729230, 31796994	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26010411, 31796994		★☆☆☆☆ Found in Text Mining only
TYLOSIS WITH ESOPHAGEAL CANCER	Palmoplantar keratoderma-esophageal carcinoma syndrome	BEFREE	26535007		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	27077118		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	29056164		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24793016, 27581326	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	25124714		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	15603556		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	39457420	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	19959661	Stimulate	★☆☆☆☆ Found in Text Mining only