ECE1 (endothelin converting enzyme 1)

Gene

• Entrez ID: 1889
• Gene name: Endothelin converting enzyme 1
• Gene symbol: ECE1
• Synonyms (NCBI Gene): ECE
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spli

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3026906	G>A	Pathogenic	Coding sequence variant, missense variant
rs200894751	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs765763704	A>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016794	hsa-miR-335-5p	Microarray	18185580
MIRT022165	hsa-miR-124-3p	Microarray	18668037
MIRT042082	hsa-miR-484	CLASH	23622248
MIRT042082	hsa-miR-484	CLASH	23622248
MIRT444784	hsa-miR-4422	PAR-CLIP	22100165
MIRT444783	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT444782	hsa-miR-6793-3p	PAR-CLIP	22100165
MIRT444781	hsa-miR-4635	PAR-CLIP	22100165
MIRT444780	hsa-miR-2355-5p	PAR-CLIP	22100165
MIRT444779	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT444778	hsa-miR-3679-3p	PAR-CLIP	22100165
MIRT444784	hsa-miR-4422	PAR-CLIP	22100165
MIRT444783	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT444782	hsa-miR-6793-3p	PAR-CLIP	22100165
MIRT444781	hsa-miR-4635	PAR-CLIP	22100165
MIRT444780	hsa-miR-2355-5p	PAR-CLIP	22100165
MIRT444779	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT444778	hsa-miR-3679-3p	PAR-CLIP	22100165
MIRT951471	hsa-miR-1200	CLIP-seq
MIRT951472	hsa-miR-122	CLIP-seq
MIRT951473	hsa-miR-1224-3p	CLIP-seq
MIRT951474	hsa-miR-125a-3p	CLIP-seq
MIRT951475	hsa-miR-1302	CLIP-seq
MIRT951476	hsa-miR-1306	CLIP-seq
MIRT951477	hsa-miR-184	CLIP-seq
MIRT951478	hsa-miR-197	CLIP-seq
MIRT951479	hsa-miR-216a	CLIP-seq
MIRT951480	hsa-miR-2278	CLIP-seq
MIRT951481	hsa-miR-3122	CLIP-seq
MIRT951482	hsa-miR-3155	CLIP-seq
MIRT951483	hsa-miR-3155b	CLIP-seq
MIRT951484	hsa-miR-3170	CLIP-seq
MIRT951485	hsa-miR-3183	CLIP-seq
MIRT951486	hsa-miR-3187-3p	CLIP-seq
MIRT951487	hsa-miR-335	CLIP-seq
MIRT951488	hsa-miR-3663-5p	CLIP-seq
MIRT951489	hsa-miR-3670	CLIP-seq
MIRT951490	hsa-miR-371-5p	CLIP-seq
MIRT951491	hsa-miR-371b-5p	CLIP-seq
MIRT951492	hsa-miR-3913-5p	CLIP-seq
MIRT951493	hsa-miR-3934	CLIP-seq
MIRT951494	hsa-miR-4268	CLIP-seq
MIRT951495	hsa-miR-4287	CLIP-seq
MIRT951496	hsa-miR-4294	CLIP-seq
MIRT951497	hsa-miR-4298	CLIP-seq
MIRT951498	hsa-miR-4324	CLIP-seq
MIRT951499	hsa-miR-4435	CLIP-seq
MIRT951500	hsa-miR-4454	CLIP-seq
MIRT951501	hsa-miR-4469	CLIP-seq
MIRT951502	hsa-miR-4685-3p	CLIP-seq
MIRT951503	hsa-miR-4690-5p	CLIP-seq
MIRT951504	hsa-miR-4701-5p	CLIP-seq
MIRT951505	hsa-miR-4723-3p	CLIP-seq
MIRT951506	hsa-miR-4753-3p	CLIP-seq
MIRT951507	hsa-miR-4755-3p	CLIP-seq
MIRT951508	hsa-miR-4761-3p	CLIP-seq
MIRT951509	hsa-miR-4772-3p	CLIP-seq
MIRT951510	hsa-miR-4793-3p	CLIP-seq
MIRT951511	hsa-miR-5096	CLIP-seq
MIRT951512	hsa-miR-544b	CLIP-seq
MIRT951513	hsa-miR-548s	CLIP-seq
MIRT951514	hsa-miR-588	CLIP-seq
MIRT951515	hsa-miR-642a	CLIP-seq
MIRT951516	hsa-miR-658	CLIP-seq
MIRT951517	hsa-miR-764	CLIP-seq
MIRT951518	hsa-miR-106a	CLIP-seq
MIRT951519	hsa-miR-106b	CLIP-seq
MIRT951473	hsa-miR-1224-3p	CLIP-seq
MIRT951520	hsa-miR-125a-5p	CLIP-seq
MIRT951521	hsa-miR-125b	CLIP-seq
MIRT951522	hsa-miR-1266	CLIP-seq
MIRT951523	hsa-miR-1273f	CLIP-seq
MIRT951524	hsa-miR-128	CLIP-seq
MIRT951476	hsa-miR-1306	CLIP-seq
MIRT951525	hsa-miR-1321	CLIP-seq
MIRT951526	hsa-miR-140-3p	CLIP-seq
MIRT951527	hsa-miR-145	CLIP-seq
MIRT951528	hsa-miR-150	CLIP-seq
MIRT951529	hsa-miR-17	CLIP-seq
MIRT951530	hsa-miR-1825	CLIP-seq
MIRT951478	hsa-miR-197	CLIP-seq
MIRT951531	hsa-miR-1976	CLIP-seq
MIRT951532	hsa-miR-199a-5p	CLIP-seq
MIRT951533	hsa-miR-199b-5p	CLIP-seq
MIRT951534	hsa-miR-20a	CLIP-seq
MIRT951535	hsa-miR-20b	CLIP-seq
MIRT951536	hsa-miR-302a	CLIP-seq
MIRT951537	hsa-miR-302b	CLIP-seq
MIRT951538	hsa-miR-302c	CLIP-seq
MIRT951539	hsa-miR-302d	CLIP-seq
MIRT951540	hsa-miR-302e	CLIP-seq
MIRT951541	hsa-miR-3127-3p	CLIP-seq
MIRT951542	hsa-miR-3127-5p	CLIP-seq
MIRT951543	hsa-miR-3150b-3p	CLIP-seq
MIRT951484	hsa-miR-3170	CLIP-seq
MIRT951544	hsa-miR-3180-5p	CLIP-seq
MIRT951486	hsa-miR-3187-3p	CLIP-seq
MIRT951488	hsa-miR-3663-5p	CLIP-seq
MIRT951545	hsa-miR-3664-3p	CLIP-seq
MIRT951546	hsa-miR-3692	CLIP-seq
MIRT951490	hsa-miR-371-5p	CLIP-seq
MIRT951491	hsa-miR-371b-5p	CLIP-seq
MIRT951547	hsa-miR-372	CLIP-seq
MIRT951548	hsa-miR-373	CLIP-seq
MIRT951549	hsa-miR-411	CLIP-seq
MIRT951550	hsa-miR-4319	CLIP-seq
MIRT951499	hsa-miR-4435	CLIP-seq
MIRT951551	hsa-miR-4446-5p	CLIP-seq
MIRT951500	hsa-miR-4454	CLIP-seq
MIRT951552	hsa-miR-4518	CLIP-seq
MIRT951553	hsa-miR-4667-3p	CLIP-seq
MIRT951554	hsa-miR-4694-5p	CLIP-seq
MIRT951555	hsa-miR-4699-5p	CLIP-seq
MIRT951504	hsa-miR-4701-5p	CLIP-seq
MIRT951556	hsa-miR-4714-3p	CLIP-seq
MIRT951557	hsa-miR-4731-5p	CLIP-seq
MIRT951558	hsa-miR-4732-3p	CLIP-seq
MIRT951559	hsa-miR-4739	CLIP-seq
MIRT951507	hsa-miR-4755-3p	CLIP-seq
MIRT951560	hsa-miR-4755-5p	CLIP-seq
MIRT951561	hsa-miR-4756-5p	CLIP-seq
MIRT951562	hsa-miR-4784	CLIP-seq
MIRT951563	hsa-miR-5095	CLIP-seq
MIRT951511	hsa-miR-5096	CLIP-seq
MIRT951564	hsa-miR-512-3p	CLIP-seq
MIRT951565	hsa-miR-519d	CLIP-seq
MIRT951566	hsa-miR-520a-3p	CLIP-seq
MIRT951567	hsa-miR-520b	CLIP-seq
MIRT951568	hsa-miR-520c-3p	CLIP-seq
MIRT951569	hsa-miR-520d-3p	CLIP-seq
MIRT951570	hsa-miR-520e	CLIP-seq
MIRT951571	hsa-miR-520g	CLIP-seq
MIRT951572	hsa-miR-520h	CLIP-seq
MIRT951513	hsa-miR-548s	CLIP-seq
MIRT951573	hsa-miR-548t	CLIP-seq
MIRT951574	hsa-miR-552	CLIP-seq
MIRT951575	hsa-miR-582-3p	CLIP-seq
MIRT951514	hsa-miR-588	CLIP-seq
MIRT951576	hsa-miR-630	CLIP-seq
MIRT951577	hsa-miR-636	CLIP-seq
MIRT951578	hsa-miR-670	CLIP-seq
MIRT951517	hsa-miR-764	CLIP-seq
MIRT951579	hsa-miR-765	CLIP-seq
MIRT951580	hsa-miR-93	CLIP-seq
MIRT951471	hsa-miR-1200	CLIP-seq
MIRT951473	hsa-miR-1224-3p	CLIP-seq
MIRT951581	hsa-miR-1226	CLIP-seq
MIRT951582	hsa-miR-124	CLIP-seq
MIRT951520	hsa-miR-125a-5p	CLIP-seq
MIRT951521	hsa-miR-125b	CLIP-seq
MIRT951522	hsa-miR-1266	CLIP-seq
MIRT951524	hsa-miR-128	CLIP-seq
MIRT951525	hsa-miR-1321	CLIP-seq
MIRT951526	hsa-miR-140-3p	CLIP-seq
MIRT951527	hsa-miR-145	CLIP-seq
MIRT951583	hsa-miR-1587	CLIP-seq
MIRT951530	hsa-miR-1825	CLIP-seq
MIRT951532	hsa-miR-199a-5p	CLIP-seq
MIRT951533	hsa-miR-199b-5p	CLIP-seq
MIRT951479	hsa-miR-216a	CLIP-seq
MIRT951584	hsa-miR-3125	CLIP-seq
MIRT951543	hsa-miR-3150b-3p	CLIP-seq
MIRT951544	hsa-miR-3180-5p	CLIP-seq
MIRT951585	hsa-miR-3616-3p	CLIP-seq
MIRT951545	hsa-miR-3664-3p	CLIP-seq
MIRT951586	hsa-miR-3714	CLIP-seq
MIRT951587	hsa-miR-378g	CLIP-seq
MIRT951588	hsa-miR-3910	CLIP-seq
MIRT951589	hsa-miR-3916	CLIP-seq
MIRT951550	hsa-miR-4319	CLIP-seq
MIRT951498	hsa-miR-4324	CLIP-seq
MIRT951590	hsa-miR-4330	CLIP-seq
MIRT951551	hsa-miR-4446-5p	CLIP-seq
MIRT951500	hsa-miR-4454	CLIP-seq
MIRT951591	hsa-miR-4459	CLIP-seq
MIRT951592	hsa-miR-4474-3p	CLIP-seq
MIRT951593	hsa-miR-4492	CLIP-seq
MIRT951594	hsa-miR-4498	CLIP-seq
MIRT951595	hsa-miR-4502	CLIP-seq
MIRT951552	hsa-miR-4518	CLIP-seq
MIRT951596	hsa-miR-4640-5p	CLIP-seq
MIRT951597	hsa-miR-4650-5p	CLIP-seq
MIRT951598	hsa-miR-4656	CLIP-seq
MIRT951599	hsa-miR-4663	CLIP-seq
MIRT951600	hsa-miR-4675	CLIP-seq
MIRT951601	hsa-miR-4695-5p	CLIP-seq
MIRT951555	hsa-miR-4699-5p	CLIP-seq
MIRT951556	hsa-miR-4714-3p	CLIP-seq
MIRT951602	hsa-miR-4726-5p	CLIP-seq
MIRT951558	hsa-miR-4732-3p	CLIP-seq
MIRT951559	hsa-miR-4739	CLIP-seq
MIRT951603	hsa-miR-4741	CLIP-seq
MIRT951560	hsa-miR-4755-5p	CLIP-seq
MIRT951561	hsa-miR-4756-5p	CLIP-seq
MIRT951509	hsa-miR-4772-3p	CLIP-seq
MIRT951562	hsa-miR-4784	CLIP-seq
MIRT951604	hsa-miR-506	CLIP-seq
MIRT951605	hsa-miR-514	CLIP-seq
MIRT951606	hsa-miR-514b-3p	CLIP-seq
MIRT951512	hsa-miR-544b	CLIP-seq
MIRT951573	hsa-miR-548t	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT951608	hsa-miR-661	CLIP-seq
MIRT951609	hsa-miR-665	CLIP-seq
MIRT951578	hsa-miR-670	CLIP-seq
MIRT951610	hsa-miR-762	CLIP-seq
MIRT951579	hsa-miR-765	CLIP-seq
MIRT951611	hsa-miR-877	CLIP-seq
MIRT951473	hsa-miR-1224-3p	CLIP-seq
MIRT951474	hsa-miR-125a-3p	CLIP-seq
MIRT951523	hsa-miR-1273f	CLIP-seq
MIRT951476	hsa-miR-1306	CLIP-seq
MIRT951478	hsa-miR-197	CLIP-seq
MIRT951484	hsa-miR-3170	CLIP-seq
MIRT951486	hsa-miR-3187-3p	CLIP-seq
MIRT951488	hsa-miR-3663-5p	CLIP-seq
MIRT951490	hsa-miR-371-5p	CLIP-seq
MIRT951491	hsa-miR-371b-5p	CLIP-seq
MIRT951493	hsa-miR-3934	CLIP-seq
MIRT951499	hsa-miR-4435	CLIP-seq
MIRT951500	hsa-miR-4454	CLIP-seq
MIRT951504	hsa-miR-4701-5p	CLIP-seq
MIRT951507	hsa-miR-4755-3p	CLIP-seq
MIRT951511	hsa-miR-5096	CLIP-seq
MIRT951513	hsa-miR-548s	CLIP-seq
MIRT951514	hsa-miR-588	CLIP-seq
MIRT951517	hsa-miR-764	CLIP-seq
MIRT1981831	hsa-miR-3682-5p	CLIP-seq
MIRT1981832	hsa-miR-4279	CLIP-seq
MIRT1981833	hsa-miR-4421	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT951586	hsa-miR-3714	CLIP-seq
MIRT1981834	hsa-miR-4267	CLIP-seq
MIRT1981835	hsa-miR-4302	CLIP-seq
MIRT1981836	hsa-miR-4489	CLIP-seq
MIRT951599	hsa-miR-4663	CLIP-seq
MIRT1981835	hsa-miR-4302	CLIP-seq
MIRT951597	hsa-miR-4650-5p	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT951524	hsa-miR-128	CLIP-seq
MIRT2216690	hsa-miR-4453	CLIP-seq
MIRT2216691	hsa-miR-4538	CLIP-seq
MIRT951608	hsa-miR-661	CLIP-seq
MIRT951524	hsa-miR-128	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT2428420	hsa-miR-4803	CLIP-seq
MIRT951586	hsa-miR-3714	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT951472	hsa-miR-122	CLIP-seq
MIRT951581	hsa-miR-1226	CLIP-seq
MIRT2448638	hsa-miR-3192	CLIP-seq
MIRT951495	hsa-miR-4287	CLIP-seq
MIRT951496	hsa-miR-4294	CLIP-seq
MIRT2448639	hsa-miR-4434	CLIP-seq
MIRT951501	hsa-miR-4469	CLIP-seq
MIRT951595	hsa-miR-4502	CLIP-seq
MIRT2448640	hsa-miR-4516	CLIP-seq
MIRT951597	hsa-miR-4650-5p	CLIP-seq
MIRT951502	hsa-miR-4685-3p	CLIP-seq
MIRT2448641	hsa-miR-4707-3p	CLIP-seq
MIRT951515	hsa-miR-642a	CLIP-seq
MIRT2428420	hsa-miR-4803	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT2679648	hsa-miR-101	CLIP-seq
MIRT951471	hsa-miR-1200	CLIP-seq
MIRT2679649	hsa-miR-1208	CLIP-seq
MIRT951472	hsa-miR-122	CLIP-seq
MIRT951581	hsa-miR-1226	CLIP-seq
MIRT2679650	hsa-miR-1229	CLIP-seq
MIRT951522	hsa-miR-1266	CLIP-seq
MIRT2679651	hsa-miR-1269	CLIP-seq
MIRT2679652	hsa-miR-1269b	CLIP-seq
MIRT2679653	hsa-miR-1275	CLIP-seq
MIRT951524	hsa-miR-128	CLIP-seq
MIRT2679654	hsa-miR-1288	CLIP-seq
MIRT2679655	hsa-miR-1293	CLIP-seq
MIRT2679656	hsa-miR-1304	CLIP-seq
MIRT2679657	hsa-miR-1323	CLIP-seq
MIRT2679658	hsa-miR-135a	CLIP-seq
MIRT2679659	hsa-miR-135b	CLIP-seq
MIRT2679660	hsa-miR-139-5p	CLIP-seq
MIRT951526	hsa-miR-140-3p	CLIP-seq
MIRT2679661	hsa-miR-144	CLIP-seq
MIRT951528	hsa-miR-150	CLIP-seq
MIRT951477	hsa-miR-184	CLIP-seq
MIRT2679662	hsa-miR-1910	CLIP-seq
MIRT2679663	hsa-miR-1915	CLIP-seq
MIRT2679664	hsa-miR-1972	CLIP-seq
MIRT951531	hsa-miR-1976	CLIP-seq
MIRT951479	hsa-miR-216a	CLIP-seq
MIRT2679665	hsa-miR-22	CLIP-seq
MIRT2679666	hsa-miR-223	CLIP-seq
MIRT2679667	hsa-miR-2276	CLIP-seq
MIRT2679668	hsa-miR-299-3p	CLIP-seq
MIRT2679669	hsa-miR-3065-3p	CLIP-seq
MIRT2679670	hsa-miR-31	CLIP-seq
MIRT2679671	hsa-miR-3117-5p	CLIP-seq
MIRT2679672	hsa-miR-3119	CLIP-seq
MIRT2679673	hsa-miR-3121-3p	CLIP-seq
MIRT2679674	hsa-miR-3126-3p	CLIP-seq
MIRT951542	hsa-miR-3127-5p	CLIP-seq
MIRT2679675	hsa-miR-3150a-3p	CLIP-seq
MIRT2679676	hsa-miR-3151	CLIP-seq
MIRT2679677	hsa-miR-3152-5p	CLIP-seq
MIRT2679678	hsa-miR-3156-3p	CLIP-seq
MIRT2679679	hsa-miR-3158-3p	CLIP-seq
MIRT2679680	hsa-miR-3158-5p	CLIP-seq
MIRT2679681	hsa-miR-3186-3p	CLIP-seq
MIRT2679682	hsa-miR-3191	CLIP-seq
MIRT2448638	hsa-miR-3192	CLIP-seq
MIRT2679683	hsa-miR-3194-5p	CLIP-seq
MIRT2679684	hsa-miR-3199	CLIP-seq
MIRT2679685	hsa-miR-331-3p	CLIP-seq
MIRT951487	hsa-miR-335	CLIP-seq
MIRT2679686	hsa-miR-3613-3p	CLIP-seq
MIRT2679687	hsa-miR-3650	CLIP-seq
MIRT2679688	hsa-miR-3651	CLIP-seq
MIRT951489	hsa-miR-3670	CLIP-seq
MIRT2679689	hsa-miR-3678-3p	CLIP-seq
MIRT2679690	hsa-miR-3688-5p	CLIP-seq
MIRT2679691	hsa-miR-369-3p	CLIP-seq
MIRT2679692	hsa-miR-370	CLIP-seq
MIRT951586	hsa-miR-3714	CLIP-seq
MIRT951491	hsa-miR-371b-5p	CLIP-seq
MIRT2679693	hsa-miR-374c	CLIP-seq
MIRT2679694	hsa-miR-383	CLIP-seq
MIRT2679695	hsa-miR-3919	CLIP-seq
MIRT2679696	hsa-miR-3977	CLIP-seq
MIRT2679697	hsa-miR-4260	CLIP-seq
MIRT1981834	hsa-miR-4267	CLIP-seq
MIRT2679698	hsa-miR-4272	CLIP-seq
MIRT2679699	hsa-miR-4301	CLIP-seq
MIRT1981835	hsa-miR-4302	CLIP-seq
MIRT951498	hsa-miR-4324	CLIP-seq
MIRT2448639	hsa-miR-4434	CLIP-seq
MIRT2679700	hsa-miR-4446-3p	CLIP-seq
MIRT2679701	hsa-miR-4447	CLIP-seq
MIRT2679702	hsa-miR-4450	CLIP-seq
MIRT951591	hsa-miR-4459	CLIP-seq
MIRT2679703	hsa-miR-4463	CLIP-seq
MIRT2679704	hsa-miR-4472	CLIP-seq
MIRT951592	hsa-miR-4474-3p	CLIP-seq
MIRT2679705	hsa-miR-4483	CLIP-seq
MIRT2679706	hsa-miR-4491	CLIP-seq
MIRT2679707	hsa-miR-4494	CLIP-seq
MIRT951595	hsa-miR-4502	CLIP-seq
MIRT2448640	hsa-miR-4516	CLIP-seq
MIRT951552	hsa-miR-4518	CLIP-seq
MIRT2679708	hsa-miR-4525	CLIP-seq
MIRT2679709	hsa-miR-4529-3p	CLIP-seq
MIRT2679710	hsa-miR-455-3p	CLIP-seq
MIRT951597	hsa-miR-4650-5p	CLIP-seq
MIRT2679711	hsa-miR-4652-5p	CLIP-seq
MIRT2679712	hsa-miR-4657	CLIP-seq
MIRT2679713	hsa-miR-4665-5p	CLIP-seq
MIRT2679714	hsa-miR-4690-3p	CLIP-seq
MIRT951554	hsa-miR-4694-5p	CLIP-seq
MIRT2679715	hsa-miR-4697-3p	CLIP-seq
MIRT2679716	hsa-miR-4700-3p	CLIP-seq
MIRT2448641	hsa-miR-4707-3p	CLIP-seq
MIRT2679717	hsa-miR-4722-5p	CLIP-seq
MIRT2679718	hsa-miR-4725-5p	CLIP-seq
MIRT2679719	hsa-miR-4735-5p	CLIP-seq
MIRT951506	hsa-miR-4753-3p	CLIP-seq
MIRT2679720	hsa-miR-4763-5p	CLIP-seq
MIRT951509	hsa-miR-4772-3p	CLIP-seq
MIRT2679721	hsa-miR-4775	CLIP-seq
MIRT2679722	hsa-miR-4779	CLIP-seq
MIRT2679723	hsa-miR-4786-3p	CLIP-seq
MIRT2679724	hsa-miR-4794	CLIP-seq
MIRT2428420	hsa-miR-4803	CLIP-seq
MIRT2679725	hsa-miR-504	CLIP-seq
MIRT2679726	hsa-miR-510	CLIP-seq
MIRT2679727	hsa-miR-532-3p	CLIP-seq
MIRT951512	hsa-miR-544b	CLIP-seq
MIRT2679728	hsa-miR-548o	CLIP-seq
MIRT2679729	hsa-miR-590-3p	CLIP-seq
MIRT2679730	hsa-miR-625	CLIP-seq
MIRT951577	hsa-miR-636	CLIP-seq
MIRT951607	hsa-miR-642b	CLIP-seq
MIRT2679731	hsa-miR-644	CLIP-seq
MIRT2679732	hsa-miR-655	CLIP-seq
MIRT2679733	hsa-miR-662	CLIP-seq
MIRT951579	hsa-miR-765	CLIP-seq
MIRT2679734	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Activation	11723240;9595399

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001921	Process	Positive regulation of receptor recycling	IMP	18039931
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IC	7805846
GO:0004175	Function	Endopeptidase activity	IDA	7805846, 18039931
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	ISS	8062389
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IDA	18039931
GO:0005769	Component	Early endosome	IDA	18039931
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18039931
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007411	Process	Axon guidance	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	9915973
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	18992253
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009897	Component	External side of plasma membrane	IDA	9449382, 9710124
GO:0010008	Component	Endosome membrane	TAS	18039931
GO:0010467	Process	Gene expression	IEA
GO:0010814	Process	Substance P catabolic process	IDA	18039931
GO:0010815	Process	Bradykinin catabolic process	IDA	18039931
GO:0010816	Process	Calcitonin catabolic process	IDA	18039931
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	7805846
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IDA	7805846
GO:0016486	Process	Peptide hormone processing	IBA
GO:0016486	Process	Peptide hormone processing	IDA	7864876
GO:0016486	Process	Peptide hormone processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017046	Function	Peptide hormone binding	IC	7864876
GO:0019229	Process	Regulation of vasoconstriction	IC	7805846
GO:0031175	Process	Neuron projection development	IEA
GO:0031982	Component	Vesicle	ISS	9449382
GO:0033093	Component	Weibel-Palade body	IDA	9710124
GO:0034959	Process	Endothelin maturation	IDA	7805846
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0042447	Process	Hormone catabolic process	IDA	7864876
GO:0042733	Process	Embryonic digit morphogenesis	IMP	9915973
GO:0042803	Function	Protein homodimerization activity	IPI	7805846
GO:0043583	Process	Ear development	IMP	9915973
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9710124
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060385	Process	Axonogenesis involved in innervation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097492	Process	Sympathetic neuron axon guidance	IEA
GO:1902287	Process	Semaphorin-plexin signaling pathway involved in axon guidance	IEA

Other IDs

• MIM: 600423
• HGNC: 3146
• e!Ensembl: ENSG00000117298

Protein

• UniProt ID: P42892
• Protein name: Endothelin-converting enzyme 1 (ECE-1) (EC 3.4.24.71)
• Protein function: Converts big endothelin-1 to endothelin-1.
• PDB: 3DWB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05649	Peptidase_M13_N	121 → 507	Peptidase family M13	Family
  PF01431	Peptidase_M13	566 → 769	Peptidase family M13	Family

• Tissue specificity: TISSUE SPECIFICITY: All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromoc
• Sequence:

  MRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWA
  ARTQVEKRLVVLVVLLAAGLVACLAALGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVD
  PCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAERKAQV
  YYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVY
  VSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAI
  RPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVE
  INESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEV
  MYGTKKTCLPRWKFCVSDTENNLGFALGPMFVKATFAEDSKSIATEIILEIKKAFEESLS
  TLKWMDEETRKSAKEKADAIYNMIGYPNFIMDPKELDKVFNDYTAVPDLYFENAMRFFNF
  SWRVTADQLRKAPNRDQWSMTPPMVNAYYSPTKNEIVFPAGILQAPFYTRSSPKALNFGG
  IGVVVGHELTHAFDDQGREYDKDGNLRPWWKNSSVEAFKRQTECMVEQYSNYSVNGEPVN
  GRHTLGENIADNGGLKAAYRAYQNWVKKNGAEHSLPTLGLTNNQLFFLGFAQVWCSVRTP
  ESSHEGLITDPHSPSRFRVIGSLSNSKEFSEHFRCPPGSPMNPPHKCEVW

• Sequence length: 770

Pathways

Reactome:

Peptide ligand-binding receptors

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Aganglionic megacolon	Likely pathogenic	rs200894751, rs765763704	RCV000736044 RCV000736043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung disease, cardiac defects, and autonomic dysfunction	Likely pathogenic; Pathogenic	rs367812436, rs3026906	RCV001647332 RCV000009704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTONOMIC NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECE1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, essential, susceptibility to	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aganglionosis, Colonic	Colonic Aganglionosis	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Rectosigmoid Colon	Colonic Aganglionosis	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18334739, 20037208, 20663017, 27249223	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	18334739, 20037208		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	11337485, 20663017		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	19008257		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16741001, 17525706, 18997155, 19289136, 24595843		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16741001, 17525706, 18997155, 19289136, 24595843		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	31777301, 9786493	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17295044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30168613, 38062093	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10745023		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10217651		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	24454898	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	9607404		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	9607404	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	19289136, 24026618		★☆☆☆☆ Found in Text Mining only
Cataract, Congenital, Cerulean Type, 2	Cataract	BEFREE	31233886		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16741047		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	16741047		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16526315		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24628039		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29115963		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	9449665, 9915973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	22731820		★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12193094		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15139053		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17264805, 18334739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	17264805, 17618613, 18334739		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17264805		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18334739, 9786493	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17264805, 18334739, 22731820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	20663017		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	20663017	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12477147, 15010576		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12477147, 15010576		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16387788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29710864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	33837257	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28945168	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	17525706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	Pubtator	32107880, 35645613	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	19289383		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	23360525		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11092528		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11092528, 36635757, 36766848	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11092528		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31734650, 34020533	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	16526315	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29978582		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12193094		★☆☆☆☆ Found in Text Mining only
Hirschsprung disease	Hirschsprung Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	BEFREE	9449665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CTD_human_DG	9915973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	UNIPROT_DG	9915973		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	GENOMICS_ENGLAND_DG	9915973		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperglycemia	Hyperglycemia	BEFREE	18974277		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	18974277		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	33147748	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	28857396		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31777301, 35645613	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	24465776	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	12566389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	17664854, 18997155, 24595843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	17664854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	31734650	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	9032126		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	24026618, 24595843		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31777301	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30185506		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16526315		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	28171705		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28945168	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29978582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17295044		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10745023		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15083188, 16741058, 20725143, 20949559		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17977716		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30926432		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	20725143		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	9607404		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	9607404	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19010899, 28751724, 28945168, 29978582, 30926432		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases, Parasympathetic	Nervous System Diseases	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases, Sympathetic	Nervous System Diseases	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16741047, 19363254, 28171705		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28751724		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	23360525		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	23360525		★☆☆☆☆ Found in Text Mining only
Peripheral Autonomic Nervous System Diseases	Nervous System Diseases	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	16526315	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	16526315		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20663017		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15083188, 16741058, 20725143, 20949559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15083188, 18781169, 20725143	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23306833		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15139053		★☆☆☆☆ Found in Text Mining only
Segmental Autonomic Dysfunction	Segmental Dysfunction	CTD_human_DG	9915973		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16217751		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28945168		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28833217, 29978582		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17977716		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	21068089		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only