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ECE1 (endothelin converting enzyme 1)

Gene

1889

Endothelin converting enzyme 1

ECE1

ECE

1p36.12

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

Show/Hide all(3)

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

Show/Hide all(386)

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

Show/Hide all(1)

Transcription factor	Regulation	Reference
ETS1	Activation	11723240;9595399

Show/Hide all(35)

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	21873635
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:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0007507	Process	Heart development	IMP	9915973
GO:0008270	Function	Zinc ion binding	IDA	18992253
GO:0009897	Component	External side of plasma membrane	IDA	9449382, 9710124
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:0016021	Component	Integral component of membrane	IDA	7805846
GO:0016485	Process	Protein processing	IBA	21873635
GO:0016485	Process	Protein processing	IDA	7805846
GO:0016486	Process	Peptide hormone processing	IBA	21873635
GO:0016486	Process	Peptide hormone processing	IDA	7864876
GO:0017046	Function	Peptide hormone binding	IC	7864876
GO:0019229	Process	Regulation of vasoconstriction	IC	7805846
GO:0031302	Component	Intrinsic component of endosome membrane	TAS	18039931
GO:0031982	Component	Vesicle	ISS	9449382
GO:0033093	Component	Weibel-Palade body	IDA	9710124
GO:0034959	Process	Endothelin maturation	IDA	7805846
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:0048471	Component	Perinuclear region of cytoplasm	IDA	9710124
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
600423	3146	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

Sequence

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

Sequence length

770

Interactions

View interactions

	Reactome
			Peptide ligand-binding receptors

Associated diseases

Show/Hide Causal Diseases (11)

Causal
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	9915973, 9449665
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	16387788
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869	9915973
Hirschsprung disease, cardiac defects, and autonomic dysfunction	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	rs3026906	9915973
Hypertension	Hypertensive disease, Essential Hypertension	rs13306026, rs13333226	12566389
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (12)

Unknown
Disease name	Disease term	dbSNP ID	References
Autonomic central nervous system diseases	Autonomic nervous system disorders		9915973
Colonic aganglionosis	Aganglionosis, Colonic, Aganglionosis, Rectosigmoid Colon		9915973
Congenital intestinal aganglionosis	Congenital Intestinal Aganglionosis		9915973
Dwarfism	Dwarfism
Intestinal obstruction	Intestinal Obstruction
Intestinal polyposis	Intestinal Polyposis
Nervous system diseases	Peripheral Autonomic Nervous System Diseases, Nervous System Diseases, Parasympathetic, Nervous System Diseases, Sympathetic		9915973
Penis agenesis	Penis agenesis
Posteriorly rotated ear	Posteriorly rotated ear
Segmental dysfunction	Segmental Autonomic Dysfunction		9915973
Status epilepticus	Status Epilepticus
Thyroid neoplasm	Thyroid Neoplasm

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