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PREPL (prolyl endopeptidase like)

Gene

9581

Prolyl endopeptidase like

PREPL

CMS22

2p21

The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced t

Show/Hide all(18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111438719	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs113272276	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145356495	G>A	Pathogenic	Coding sequence variant, stop gained
rs148092524	C>A,T	Likely-pathogenic	Splice donor variant
rs748639083	AACA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs753545038	T>A,C	Likely-pathogenic	Splice acceptor variant
rs758019788	C>T	Pathogenic	Splice donor variant, intron variant
rs775517492	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs779488471	TGTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057523690	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1172015222	C>T	Likely-pathogenic	Splice donor variant
rs1316112168	C>G	Pathogenic	Splice acceptor variant
rs1361739547	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1436090495	CAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553351355	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553352792	A>C	Pathogenic	Stop gained, coding sequence variant
rs1553354962	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1558502635	GTTCTCCAACATTAGTGAGAATGTATAATTCATCATCTCTGTGTTCAACATAGTAAAGGACCCCATGTATTCGCT>TAAAA	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(480)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030991	hsa-miR-21-5p	Microarray	18591254
MIRT045698	hsa-miR-125a-5p	CLASH	23622248
MIRT555255	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT555254	hsa-miR-16-2-3p	PAR-CLIP	21572407
MIRT555253	hsa-miR-195-3p	PAR-CLIP	21572407
MIRT555252	hsa-miR-3155a	PAR-CLIP	21572407
MIRT555251	hsa-miR-3155b	PAR-CLIP	21572407
MIRT555250	hsa-miR-484	PAR-CLIP	21572407
MIRT555249	hsa-miR-3166	PAR-CLIP	21572407
MIRT555248	hsa-miR-633	PAR-CLIP	21572407
MIRT555247	hsa-miR-6079	PAR-CLIP	21572407
MIRT726862	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT726861	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT726860	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT726859	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT726857	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT555255	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT555254	hsa-miR-16-2-3p	PAR-CLIP	21572407
MIRT555253	hsa-miR-195-3p	PAR-CLIP	21572407
MIRT555252	hsa-miR-3155a	PAR-CLIP	21572407
MIRT555251	hsa-miR-3155b	PAR-CLIP	21572407
MIRT555250	hsa-miR-484	PAR-CLIP	21572407
MIRT555249	hsa-miR-3166	PAR-CLIP	21572407
MIRT555248	hsa-miR-633	PAR-CLIP	21572407
MIRT555247	hsa-miR-6079	PAR-CLIP	21572407
MIRT1260911	hsa-miR-106a	CLIP-seq
MIRT1260912	hsa-miR-106b	CLIP-seq
MIRT1260913	hsa-miR-1273f	CLIP-seq
MIRT1260914	hsa-miR-1279	CLIP-seq
MIRT1260915	hsa-miR-1283	CLIP-seq
MIRT1260916	hsa-miR-1289	CLIP-seq
MIRT1260917	hsa-miR-1292	CLIP-seq
MIRT1260918	hsa-miR-1302	CLIP-seq
MIRT1260919	hsa-miR-139-5p	CLIP-seq
MIRT1260920	hsa-miR-143	CLIP-seq
MIRT1260921	hsa-miR-154	CLIP-seq
MIRT1260922	hsa-miR-17	CLIP-seq
MIRT1260923	hsa-miR-181a	CLIP-seq
MIRT1260924	hsa-miR-181b	CLIP-seq
MIRT1260925	hsa-miR-181c	CLIP-seq
MIRT1260926	hsa-miR-181d	CLIP-seq
MIRT1260927	hsa-miR-185	CLIP-seq
MIRT1260928	hsa-miR-203	CLIP-seq
MIRT1260929	hsa-miR-20a	CLIP-seq
MIRT1260930	hsa-miR-20b	CLIP-seq
MIRT1260931	hsa-miR-21	CLIP-seq
MIRT1260932	hsa-miR-2276	CLIP-seq
MIRT1260933	hsa-miR-28-5p	CLIP-seq
MIRT1260934	hsa-miR-3065-5p	CLIP-seq
MIRT1260935	hsa-miR-30a	CLIP-seq
MIRT1260936	hsa-miR-30b	CLIP-seq
MIRT1260937	hsa-miR-30c	CLIP-seq
MIRT1260938	hsa-miR-30d	CLIP-seq
MIRT1260939	hsa-miR-30e	CLIP-seq
MIRT1260940	hsa-miR-3122	CLIP-seq
MIRT1260941	hsa-miR-3123	CLIP-seq
MIRT1260942	hsa-miR-3124-3p	CLIP-seq
MIRT1260943	hsa-miR-3139	CLIP-seq
MIRT1260944	hsa-miR-3198	CLIP-seq
MIRT1260945	hsa-miR-3199	CLIP-seq
MIRT1260946	hsa-miR-3609	CLIP-seq
MIRT1260947	hsa-miR-3647-3p	CLIP-seq
MIRT1260948	hsa-miR-3675-3p	CLIP-seq
MIRT1260949	hsa-miR-3685	CLIP-seq
MIRT1260950	hsa-miR-3686	CLIP-seq
MIRT1260951	hsa-miR-384	CLIP-seq
MIRT1260952	hsa-miR-3913-5p	CLIP-seq
MIRT1260953	hsa-miR-3942-3p	CLIP-seq
MIRT1260954	hsa-miR-3945	CLIP-seq
MIRT1260955	hsa-miR-410	CLIP-seq
MIRT1260956	hsa-miR-411	CLIP-seq
MIRT1260957	hsa-miR-4253	CLIP-seq
MIRT1260958	hsa-miR-4262	CLIP-seq
MIRT1260959	hsa-miR-4294	CLIP-seq
MIRT1260960	hsa-miR-4298	CLIP-seq
MIRT1260961	hsa-miR-4306	CLIP-seq
MIRT1260962	hsa-miR-4309	CLIP-seq
MIRT1260963	hsa-miR-4471	CLIP-seq
MIRT1260964	hsa-miR-4506	CLIP-seq
MIRT1260965	hsa-miR-4633-5p	CLIP-seq
MIRT1260966	hsa-miR-4644	CLIP-seq
MIRT1260967	hsa-miR-4652-3p	CLIP-seq
MIRT1260968	hsa-miR-4684-5p	CLIP-seq
MIRT1260969	hsa-miR-4695-3p	CLIP-seq
MIRT1260970	hsa-miR-4708-5p	CLIP-seq
MIRT1260971	hsa-miR-4711-5p	CLIP-seq
MIRT1260972	hsa-miR-4742-3p	CLIP-seq
MIRT1260973	hsa-miR-4762-5p	CLIP-seq
MIRT1260974	hsa-miR-4770	CLIP-seq
MIRT1260975	hsa-miR-4772-3p	CLIP-seq
MIRT1260976	hsa-miR-4778-5p	CLIP-seq
MIRT1260977	hsa-miR-4796-3p	CLIP-seq
MIRT1260978	hsa-miR-519d	CLIP-seq
MIRT1260979	hsa-miR-548ah	CLIP-seq
MIRT1260980	hsa-miR-548u	CLIP-seq
MIRT1260981	hsa-miR-569	CLIP-seq
MIRT1260982	hsa-miR-590-5p	CLIP-seq
MIRT1260983	hsa-miR-618	CLIP-seq
MIRT1260984	hsa-miR-708	CLIP-seq
MIRT1260985	hsa-miR-93	CLIP-seq
MIRT1260986	hsa-miR-3591-3p	CLIP-seq
MIRT1260987	hsa-miR-1256	CLIP-seq
MIRT1260988	hsa-miR-1271	CLIP-seq
MIRT1260989	hsa-miR-182	CLIP-seq
MIRT1260990	hsa-miR-2053	CLIP-seq
MIRT1260991	hsa-miR-218	CLIP-seq
MIRT1260941	hsa-miR-3123	CLIP-seq
MIRT1260992	hsa-miR-3125	CLIP-seq
MIRT1260993	hsa-miR-3160-5p	CLIP-seq
MIRT1260994	hsa-miR-3185	CLIP-seq
MIRT1260995	hsa-miR-3605-5p	CLIP-seq
MIRT1260996	hsa-miR-3680	CLIP-seq
MIRT1260997	hsa-miR-371b-3p	CLIP-seq
MIRT1260998	hsa-miR-376a	CLIP-seq
MIRT1260999	hsa-miR-376b	CLIP-seq
MIRT1261000	hsa-miR-3916	CLIP-seq
MIRT1261001	hsa-miR-3924	CLIP-seq
MIRT1261002	hsa-miR-3925-5p	CLIP-seq
MIRT1261003	hsa-miR-3973	CLIP-seq
MIRT1261004	hsa-miR-421	CLIP-seq
MIRT1261005	hsa-miR-4528	CLIP-seq
MIRT1260965	hsa-miR-4633-5p	CLIP-seq
MIRT1261006	hsa-miR-4641	CLIP-seq
MIRT1261007	hsa-miR-4642	CLIP-seq
MIRT1261008	hsa-miR-4709-5p	CLIP-seq
MIRT1261009	hsa-miR-4803	CLIP-seq
MIRT1261010	hsa-miR-5095	CLIP-seq
MIRT1261011	hsa-miR-514	CLIP-seq
MIRT1261012	hsa-miR-514b-3p	CLIP-seq
MIRT1261013	hsa-miR-548a-5p	CLIP-seq
MIRT1261014	hsa-miR-548ab	CLIP-seq
MIRT1261015	hsa-miR-548ac	CLIP-seq
MIRT1261016	hsa-miR-548ae	CLIP-seq
MIRT1261017	hsa-miR-548aj	CLIP-seq
MIRT1261018	hsa-miR-548ak	CLIP-seq
MIRT1261019	hsa-miR-548am	CLIP-seq
MIRT1261020	hsa-miR-548b-5p	CLIP-seq
MIRT1261021	hsa-miR-548c-5p	CLIP-seq
MIRT1261022	hsa-miR-548d-3p	CLIP-seq
MIRT1261023	hsa-miR-548d-5p	CLIP-seq
MIRT1261024	hsa-miR-548h	CLIP-seq
MIRT1261025	hsa-miR-548i	CLIP-seq
MIRT1261026	hsa-miR-548j	CLIP-seq
MIRT1261027	hsa-miR-548w	CLIP-seq
MIRT1261028	hsa-miR-548x	CLIP-seq
MIRT1261029	hsa-miR-548y	CLIP-seq
MIRT1261030	hsa-miR-548z	CLIP-seq
MIRT1261031	hsa-miR-552	CLIP-seq
MIRT1261032	hsa-miR-559	CLIP-seq
MIRT1260981	hsa-miR-569	CLIP-seq
MIRT1261033	hsa-miR-586	CLIP-seq
MIRT1261034	hsa-miR-598	CLIP-seq
MIRT1261035	hsa-miR-616	CLIP-seq
MIRT1261036	hsa-miR-636	CLIP-seq
MIRT1261037	hsa-miR-764	CLIP-seq
MIRT1261038	hsa-miR-877	CLIP-seq
MIRT1261039	hsa-miR-96	CLIP-seq
MIRT1260913	hsa-miR-1273f	CLIP-seq
MIRT1260914	hsa-miR-1279	CLIP-seq
MIRT1260915	hsa-miR-1283	CLIP-seq
MIRT1260917	hsa-miR-1292	CLIP-seq
MIRT1260920	hsa-miR-143	CLIP-seq
MIRT1260927	hsa-miR-185	CLIP-seq
MIRT1260941	hsa-miR-3123	CLIP-seq
MIRT1260986	hsa-miR-3591-3p	CLIP-seq
MIRT1261040	hsa-miR-3618	CLIP-seq
MIRT1261041	hsa-miR-374c	CLIP-seq
MIRT1260953	hsa-miR-3942-3p	CLIP-seq
MIRT1261042	hsa-miR-4270	CLIP-seq
MIRT1260961	hsa-miR-4306	CLIP-seq
MIRT1261043	hsa-miR-4307	CLIP-seq
MIRT1261044	hsa-miR-4441	CLIP-seq
MIRT1260963	hsa-miR-4471	CLIP-seq
MIRT1260966	hsa-miR-4644	CLIP-seq
MIRT1261045	hsa-miR-4705	CLIP-seq
MIRT1260970	hsa-miR-4708-5p	CLIP-seq
MIRT1260971	hsa-miR-4711-5p	CLIP-seq
MIRT1261046	hsa-miR-4723-5p	CLIP-seq
MIRT1261047	hsa-miR-4728-5p	CLIP-seq
MIRT1261048	hsa-miR-4762-3p	CLIP-seq
MIRT1260974	hsa-miR-4770	CLIP-seq
MIRT1261049	hsa-miR-4789-3p	CLIP-seq
MIRT1261050	hsa-miR-499-3p	CLIP-seq
MIRT1261051	hsa-miR-499a-3p	CLIP-seq
MIRT1261052	hsa-miR-548c-3p	CLIP-seq
MIRT1260980	hsa-miR-548u	CLIP-seq
MIRT1261053	hsa-miR-584	CLIP-seq
MIRT1261054	hsa-miR-655	CLIP-seq
MIRT1261055	hsa-miR-944	CLIP-seq
MIRT1552555	hsa-miR-3936	CLIP-seq
MIRT1552556	hsa-miR-4271	CLIP-seq
MIRT1552557	hsa-miR-4477b	CLIP-seq
MIRT1552558	hsa-miR-4725-3p	CLIP-seq
MIRT1552559	hsa-miR-590-3p	CLIP-seq
MIRT1260914	hsa-miR-1279	CLIP-seq
MIRT2076768	hsa-miR-324-5p	CLIP-seq
MIRT1260986	hsa-miR-3591-3p	CLIP-seq
MIRT2076769	hsa-miR-3607-3p	CLIP-seq
MIRT1260950	hsa-miR-3686	CLIP-seq
MIRT2076770	hsa-miR-4263	CLIP-seq
MIRT2076771	hsa-miR-450b-5p	CLIP-seq
MIRT2076772	hsa-miR-4720-5p	CLIP-seq
MIRT2076773	hsa-miR-4799-3p	CLIP-seq
MIRT2076774	hsa-miR-501-5p	CLIP-seq
MIRT2076775	hsa-miR-507	CLIP-seq
MIRT2076776	hsa-miR-508-3p	CLIP-seq
MIRT2076777	hsa-miR-5096	CLIP-seq
MIRT1260980	hsa-miR-548u	CLIP-seq
MIRT2076778	hsa-miR-557	CLIP-seq
MIRT2076779	hsa-miR-577	CLIP-seq
MIRT1261035	hsa-miR-616	CLIP-seq
MIRT1261055	hsa-miR-944	CLIP-seq
MIRT1260988	hsa-miR-1271	CLIP-seq
MIRT1260989	hsa-miR-182	CLIP-seq
MIRT1261039	hsa-miR-96	CLIP-seq
MIRT1260914	hsa-miR-1279	CLIP-seq
MIRT2076768	hsa-miR-324-5p	CLIP-seq
MIRT2076774	hsa-miR-501-5p	CLIP-seq
MIRT1261041	hsa-miR-374c	CLIP-seq
MIRT1261048	hsa-miR-4762-3p	CLIP-seq
MIRT1261054	hsa-miR-655	CLIP-seq
MIRT1260988	hsa-miR-1271	CLIP-seq
MIRT1260989	hsa-miR-182	CLIP-seq
MIRT1260994	hsa-miR-3185	CLIP-seq
MIRT2432254	hsa-miR-34c-3p	CLIP-seq
MIRT2432255	hsa-miR-3646	CLIP-seq
MIRT2432256	hsa-miR-4420	CLIP-seq
MIRT2432257	hsa-miR-4666-3p	CLIP-seq
MIRT1261039	hsa-miR-96	CLIP-seq
MIRT2600021	hsa-miR-1197	CLIP-seq
MIRT2600022	hsa-miR-1208	CLIP-seq
MIRT2600023	hsa-miR-1237	CLIP-seq
MIRT2600024	hsa-miR-1248	CLIP-seq
MIRT2600025	hsa-miR-1254	CLIP-seq
MIRT1260987	hsa-miR-1256	CLIP-seq
MIRT1260988	hsa-miR-1271	CLIP-seq
MIRT1260914	hsa-miR-1279	CLIP-seq
MIRT2600026	hsa-miR-128	CLIP-seq
MIRT2600027	hsa-miR-1286	CLIP-seq
MIRT1260917	hsa-miR-1292	CLIP-seq
MIRT2600028	hsa-miR-1297	CLIP-seq
MIRT2600029	hsa-miR-1321	CLIP-seq
MIRT2600030	hsa-miR-141	CLIP-seq
MIRT1260989	hsa-miR-182	CLIP-seq
MIRT2600031	hsa-miR-1827	CLIP-seq
MIRT2600032	hsa-miR-186	CLIP-seq
MIRT2600033	hsa-miR-200a	CLIP-seq
MIRT2600034	hsa-miR-204	CLIP-seq
MIRT2600035	hsa-miR-211	CLIP-seq
MIRT1260991	hsa-miR-218	CLIP-seq
MIRT2600036	hsa-miR-26a	CLIP-seq
MIRT2600037	hsa-miR-26b	CLIP-seq
MIRT2600038	hsa-miR-3064-3p	CLIP-seq
MIRT1260935	hsa-miR-30a	CLIP-seq
MIRT1260936	hsa-miR-30b	CLIP-seq
MIRT1260937	hsa-miR-30c	CLIP-seq
MIRT1260938	hsa-miR-30d	CLIP-seq
MIRT1260939	hsa-miR-30e	CLIP-seq
MIRT2600039	hsa-miR-31	CLIP-seq
MIRT2600040	hsa-miR-3116	CLIP-seq
MIRT2600041	hsa-miR-3117-5p	CLIP-seq
MIRT2600042	hsa-miR-3126-3p	CLIP-seq
MIRT2600043	hsa-miR-3128	CLIP-seq
MIRT2600044	hsa-miR-3133	CLIP-seq
MIRT2600045	hsa-miR-3145-5p	CLIP-seq
MIRT1260993	hsa-miR-3160-5p	CLIP-seq
MIRT2600046	hsa-miR-3173-3p	CLIP-seq
MIRT2600047	hsa-miR-3176	CLIP-seq
MIRT1260994	hsa-miR-3185	CLIP-seq
MIRT2600048	hsa-miR-3187-3p	CLIP-seq
MIRT2600049	hsa-miR-3194-3p	CLIP-seq
MIRT2600050	hsa-miR-3202	CLIP-seq
MIRT2600051	hsa-miR-338-5p	CLIP-seq
MIRT2600052	hsa-miR-345	CLIP-seq
MIRT2600053	hsa-miR-34a	CLIP-seq
MIRT2432254	hsa-miR-34c-3p	CLIP-seq
MIRT2600054	hsa-miR-34c-5p	CLIP-seq
MIRT2600055	hsa-miR-3545-3p	CLIP-seq
MIRT2432255	hsa-miR-3646	CLIP-seq
MIRT2600056	hsa-miR-3652	CLIP-seq
MIRT2600057	hsa-miR-3663-5p	CLIP-seq
MIRT2600058	hsa-miR-3667-3p	CLIP-seq
MIRT1260997	hsa-miR-371b-3p	CLIP-seq
MIRT2600059	hsa-miR-3922-3p	CLIP-seq
MIRT1261001	hsa-miR-3924	CLIP-seq
MIRT1261003	hsa-miR-3973	CLIP-seq
MIRT1260956	hsa-miR-411	CLIP-seq
MIRT2600060	hsa-miR-4254	CLIP-seq
MIRT2600061	hsa-miR-4256	CLIP-seq
MIRT2076770	hsa-miR-4263	CLIP-seq
MIRT2600062	hsa-miR-4297	CLIP-seq
MIRT2600063	hsa-miR-4299	CLIP-seq
MIRT2432256	hsa-miR-4420	CLIP-seq
MIRT2600064	hsa-miR-4422	CLIP-seq
MIRT2600065	hsa-miR-4423-5p	CLIP-seq
MIRT2600066	hsa-miR-4428	CLIP-seq
MIRT2600067	hsa-miR-4430	CLIP-seq
MIRT2600068	hsa-miR-4436a	CLIP-seq
MIRT2600069	hsa-miR-4456	CLIP-seq
MIRT2600070	hsa-miR-4465	CLIP-seq
MIRT1260963	hsa-miR-4471	CLIP-seq
MIRT2600071	hsa-miR-4481	CLIP-seq
MIRT2600072	hsa-miR-449a	CLIP-seq
MIRT2600073	hsa-miR-449b	CLIP-seq
MIRT2600074	hsa-miR-4501	CLIP-seq
MIRT2600075	hsa-miR-4505	CLIP-seq
MIRT2600076	hsa-miR-4521	CLIP-seq
MIRT2600077	hsa-miR-4529-5p	CLIP-seq
MIRT2600078	hsa-miR-4533	CLIP-seq
MIRT2600079	hsa-miR-4633-3p	CLIP-seq
MIRT2600080	hsa-miR-4635	CLIP-seq
MIRT1261006	hsa-miR-4641	CLIP-seq
MIRT1261007	hsa-miR-4642	CLIP-seq
MIRT2600081	hsa-miR-4655-5p	CLIP-seq
MIRT2432257	hsa-miR-4666-3p	CLIP-seq
MIRT2600082	hsa-miR-4680-5p	CLIP-seq
MIRT2600083	hsa-miR-4682	CLIP-seq
MIRT2076772	hsa-miR-4720-5p	CLIP-seq
MIRT2600084	hsa-miR-4735-5p	CLIP-seq
MIRT2600085	hsa-miR-4739	CLIP-seq
MIRT2600086	hsa-miR-4744	CLIP-seq
MIRT2600087	hsa-miR-4745-5p	CLIP-seq
MIRT2600088	hsa-miR-4755-5p	CLIP-seq
MIRT2600089	hsa-miR-4756-5p	CLIP-seq
MIRT2600090	hsa-miR-4758-5p	CLIP-seq
MIRT1261048	hsa-miR-4762-3p	CLIP-seq
MIRT2600091	hsa-miR-4764-3p	CLIP-seq
MIRT2076773	hsa-miR-4799-3p	CLIP-seq
MIRT2600092	hsa-miR-494	CLIP-seq
MIRT2600093	hsa-miR-495	CLIP-seq
MIRT2600094	hsa-miR-500a	CLIP-seq
MIRT2600095	hsa-miR-508-5p	CLIP-seq
MIRT2600096	hsa-miR-511	CLIP-seq
MIRT1261011	hsa-miR-514	CLIP-seq
MIRT1261012	hsa-miR-514b-3p	CLIP-seq
MIRT2600097	hsa-miR-520d-5p	CLIP-seq
MIRT2600098	hsa-miR-524-5p	CLIP-seq
MIRT1261013	hsa-miR-548a-5p	CLIP-seq
MIRT1261014	hsa-miR-548ab	CLIP-seq
MIRT1261018	hsa-miR-548ak	CLIP-seq
MIRT1261020	hsa-miR-548b-5p	CLIP-seq
MIRT1261052	hsa-miR-548c-3p	CLIP-seq
MIRT1261021	hsa-miR-548c-5p	CLIP-seq
MIRT1261023	hsa-miR-548d-5p	CLIP-seq
MIRT2600099	hsa-miR-548g	CLIP-seq
MIRT1261024	hsa-miR-548h	CLIP-seq
MIRT1261025	hsa-miR-548i	CLIP-seq
MIRT1261026	hsa-miR-548j	CLIP-seq
MIRT2600100	hsa-miR-548p	CLIP-seq
MIRT2600101	hsa-miR-548q	CLIP-seq
MIRT1260980	hsa-miR-548u	CLIP-seq
MIRT1261027	hsa-miR-548w	CLIP-seq
MIRT1261029	hsa-miR-548y	CLIP-seq
MIRT1261032	hsa-miR-559	CLIP-seq
MIRT2600102	hsa-miR-583	CLIP-seq
MIRT1261033	hsa-miR-586	CLIP-seq
MIRT2600103	hsa-miR-621	CLIP-seq
MIRT2600104	hsa-miR-623	CLIP-seq
MIRT1261036	hsa-miR-636	CLIP-seq
MIRT2600105	hsa-miR-642a	CLIP-seq
MIRT2600106	hsa-miR-656	CLIP-seq
MIRT2600107	hsa-miR-767-3p	CLIP-seq
MIRT2600108	hsa-miR-802	CLIP-seq
MIRT2600109	hsa-miR-935	CLIP-seq
MIRT2600110	hsa-miR-940	CLIP-seq
MIRT1261055	hsa-miR-944	CLIP-seq
MIRT1261039	hsa-miR-96	CLIP-seq
MIRT1260988	hsa-miR-1271	CLIP-seq
MIRT1260989	hsa-miR-182	CLIP-seq
MIRT1261039	hsa-miR-96	CLIP-seq
MIRT2600021	hsa-miR-1197	CLIP-seq
MIRT2600023	hsa-miR-1237	CLIP-seq
MIRT2600024	hsa-miR-1248	CLIP-seq
MIRT2600025	hsa-miR-1254	CLIP-seq
MIRT1260987	hsa-miR-1256	CLIP-seq
MIRT1260988	hsa-miR-1271	CLIP-seq
MIRT1260914	hsa-miR-1279	CLIP-seq
MIRT2600026	hsa-miR-128	CLIP-seq
MIRT2600027	hsa-miR-1286	CLIP-seq
MIRT1260917	hsa-miR-1292	CLIP-seq
MIRT2600028	hsa-miR-1297	CLIP-seq
MIRT2600029	hsa-miR-1321	CLIP-seq
MIRT2600030	hsa-miR-141	CLIP-seq
MIRT1260989	hsa-miR-182	CLIP-seq
MIRT2600031	hsa-miR-1827	CLIP-seq
MIRT2600032	hsa-miR-186	CLIP-seq
MIRT2600033	hsa-miR-200a	CLIP-seq
MIRT2600034	hsa-miR-204	CLIP-seq
MIRT2600035	hsa-miR-211	CLIP-seq
MIRT2600036	hsa-miR-26a	CLIP-seq
MIRT2600037	hsa-miR-26b	CLIP-seq
MIRT2600038	hsa-miR-3064-3p	CLIP-seq
MIRT1260935	hsa-miR-30a	CLIP-seq
MIRT1260936	hsa-miR-30b	CLIP-seq
MIRT1260937	hsa-miR-30c	CLIP-seq
MIRT1260938	hsa-miR-30d	CLIP-seq
MIRT1260939	hsa-miR-30e	CLIP-seq
MIRT2600039	hsa-miR-31	CLIP-seq
MIRT2600040	hsa-miR-3116	CLIP-seq
MIRT2600041	hsa-miR-3117-5p	CLIP-seq
MIRT2600043	hsa-miR-3128	CLIP-seq
MIRT2600044	hsa-miR-3133	CLIP-seq
MIRT2600045	hsa-miR-3145-5p	CLIP-seq
MIRT1260994	hsa-miR-3185	CLIP-seq
MIRT2600049	hsa-miR-3194-3p	CLIP-seq
MIRT2600050	hsa-miR-3202	CLIP-seq
MIRT2600051	hsa-miR-338-5p	CLIP-seq
MIRT2600052	hsa-miR-345	CLIP-seq
MIRT2432254	hsa-miR-34c-3p	CLIP-seq
MIRT2432255	hsa-miR-3646	CLIP-seq
MIRT2600056	hsa-miR-3652	CLIP-seq
MIRT2600058	hsa-miR-3667-3p	CLIP-seq
MIRT1260997	hsa-miR-371b-3p	CLIP-seq
MIRT1261001	hsa-miR-3924	CLIP-seq
MIRT1261003	hsa-miR-3973	CLIP-seq
MIRT1260956	hsa-miR-411	CLIP-seq
MIRT2600060	hsa-miR-4254	CLIP-seq
MIRT2600061	hsa-miR-4256	CLIP-seq
MIRT2076770	hsa-miR-4263	CLIP-seq
MIRT2432256	hsa-miR-4420	CLIP-seq
MIRT2600064	hsa-miR-4422	CLIP-seq
MIRT2600067	hsa-miR-4430	CLIP-seq
MIRT2600068	hsa-miR-4436a	CLIP-seq
MIRT2600070	hsa-miR-4465	CLIP-seq
MIRT1260963	hsa-miR-4471	CLIP-seq
MIRT2600071	hsa-miR-4481	CLIP-seq
MIRT2600074	hsa-miR-4501	CLIP-seq
MIRT2600075	hsa-miR-4505	CLIP-seq
MIRT2600076	hsa-miR-4521	CLIP-seq
MIRT2600078	hsa-miR-4533	CLIP-seq
MIRT2600079	hsa-miR-4633-3p	CLIP-seq
MIRT1261006	hsa-miR-4641	CLIP-seq
MIRT1261007	hsa-miR-4642	CLIP-seq
MIRT2600081	hsa-miR-4655-5p	CLIP-seq
MIRT2432257	hsa-miR-4666-3p	CLIP-seq
MIRT2600083	hsa-miR-4682	CLIP-seq
MIRT2600084	hsa-miR-4735-5p	CLIP-seq
MIRT2600085	hsa-miR-4739	CLIP-seq
MIRT2600086	hsa-miR-4744	CLIP-seq
MIRT2600087	hsa-miR-4745-5p	CLIP-seq
MIRT2600088	hsa-miR-4755-5p	CLIP-seq
MIRT2600089	hsa-miR-4756-5p	CLIP-seq
MIRT2600090	hsa-miR-4758-5p	CLIP-seq
MIRT1261048	hsa-miR-4762-3p	CLIP-seq
MIRT2600091	hsa-miR-4764-3p	CLIP-seq
MIRT2600092	hsa-miR-494	CLIP-seq
MIRT2600093	hsa-miR-495	CLIP-seq
MIRT2600094	hsa-miR-500a	CLIP-seq
MIRT2600095	hsa-miR-508-5p	CLIP-seq
MIRT2600096	hsa-miR-511	CLIP-seq
MIRT1261011	hsa-miR-514	CLIP-seq
MIRT1261012	hsa-miR-514b-3p	CLIP-seq
MIRT2600097	hsa-miR-520d-5p	CLIP-seq
MIRT2600098	hsa-miR-524-5p	CLIP-seq
MIRT1261013	hsa-miR-548a-5p	CLIP-seq
MIRT1261014	hsa-miR-548ab	CLIP-seq
MIRT1261018	hsa-miR-548ak	CLIP-seq
MIRT1261020	hsa-miR-548b-5p	CLIP-seq
MIRT1261052	hsa-miR-548c-3p	CLIP-seq
MIRT1261021	hsa-miR-548c-5p	CLIP-seq
MIRT1261023	hsa-miR-548d-5p	CLIP-seq
MIRT2600099	hsa-miR-548g	CLIP-seq
MIRT1261024	hsa-miR-548h	CLIP-seq
MIRT1261025	hsa-miR-548i	CLIP-seq
MIRT1261026	hsa-miR-548j	CLIP-seq
MIRT2600100	hsa-miR-548p	CLIP-seq
MIRT1260980	hsa-miR-548u	CLIP-seq
MIRT1261027	hsa-miR-548w	CLIP-seq
MIRT1261029	hsa-miR-548y	CLIP-seq
MIRT1261032	hsa-miR-559	CLIP-seq
MIRT2600102	hsa-miR-583	CLIP-seq
MIRT2600103	hsa-miR-621	CLIP-seq
MIRT2600104	hsa-miR-623	CLIP-seq
MIRT2600105	hsa-miR-642a	CLIP-seq
MIRT2600106	hsa-miR-656	CLIP-seq
MIRT2600107	hsa-miR-767-3p	CLIP-seq
MIRT2600108	hsa-miR-802	CLIP-seq
MIRT2600110	hsa-miR-940	CLIP-seq
MIRT1261055	hsa-miR-944	CLIP-seq
MIRT1261039	hsa-miR-96	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005802	Component	Trans-Golgi network	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IMP	28726805
GO:0008233	Function	Peptidase activity	ISS
GO:0042147	Process	Retrograde transport, endosome to Golgi	ISS
GO:0043001	Process	Golgi to plasma membrane protein transport	ISS
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IMP	24610330

MIM	HGNC	e!Ensembl
609557	30228	ENSG00000138078

Protein

UniProt ID

Q4J6C6

Protein name

Prolyl endopeptidase-like (EC 3.4.21.-) (Prolylendopeptidase-like)

Protein function

Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and

PDB

7OBM , 8RFB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02897	Peptidase_S9_N	81 → 430	Prolyl oligopeptidase, N-terminal beta-propeller domain	Domain
PF00326	Peptidase_S9	488 → 711	Prolyl oligopeptidase family	Domain

Sequence

MQQKTKLFLQALKYSIPHLGKCMQKQHLNHYNFADHCYNRIKLKKYHLTKCLQNKPKISE
LARNIPSRSFSCKDLQPVKQENEKPLPENMDAFEKVRTKLETQPQEEYEIINVEVKHGGF
VYYQEGCCLVRSKDEEADNDNYEVLFNLEELKLDQPFIDCIRVAPDEKYVAAKIRTEDSE
ASTCVIIKLSDQPVMEASFPNVSSFEWVKDEEDEDVLFYTFQRNLRCHDVYRATFGDNKR
NERFYTEKDPSYFVFLYLTKDSRFLTINIMNKTTSEVWLIDGLSPWDPPVLIQKRIHGVL
YYVEHRDDELYILTNVGEPTEFKLMRTAADTPAIMNWDLFFTMKRNTKVIDLDMFKDHCV
LFLKHSNLLYVNVIGLADDSVRSLKLPPWACGFIMDTNSDPKNCPFQLCSPIRPPKYYTY
KFAEGKLFEETGHEDPITKTSRVLRLEAKSKDGKLVPMTVFHKTDSEDLQKKPLLVHVYG
AYGMDLKMNFRPERRVLVDDGWILAYCHVRGGGELGLQWHADGRLTKKLNGLADLEACIK
TLHGQGFSQPSLTTLTAFSAGGVLAGALCNSNPELVRAVTLEAPFLDVLNTMMDTTLPLT
LEELEEWGNPSSDEKHKNYIKRYCPYQNIKPQHYPSIHITAYENDERVPLKGIVSYTEKL
KEAIAEHAKDTGEGYQTPNIILDIQPGGNHVIEDSHKKITAQIKFLYEELGLDSTSVFED
LKKYLKF

Sequence length

727

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
Myasthenic syndrome	Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Myasthenic Syndrome, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 22	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822	27472506, 27472506, 24610330
Cystinuria	Cystinuria	rs121908479, rs121908480, rs121908482, rs121908483, rs121908484, rs121908485, rs121912691, rs121912693, rs121912694, rs387907276, rs797044609, rs1085307095, rs886042834, rs745319034, rs200483989, rs201502095, rs775827496, rs1060499787, rs1553344107, rs779932118, rs778000327, rs567478582, rs750849536, rs1007096305, rs1558450604, rs776729515, rs777149216, rs768467260, rs368796166, rs1361526419, rs1599688589, rs758627758, rs1599648136, rs755715459, rs767801148	20517292, 15635077, 28717662, 22493502, 7573036, 26537754
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Mental retardation	Moderate intellectual disability, 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	24610330

Show/Hide Unknown Diseases (15)

Unknown
Disease name	Disease term	dbSNP ID	References
2p21 microdeletion syndrome	2p21 microdeletion syndrome		11524703
2p21 microdeletion syndrome without cystinuria	2p21 microdeletion syndrome without cystinuria		23794250
Congenital epicanthus	Congenital Epicanthus
Dolichocephaly	Long narrow head
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing
Hypoglycemia	Hypoglycemia
Hypogonadism	Hypogonadism
Hypotonia-cystinuria syndrome	Hypotonia-Cystinuria Syndrome, Atypical hypotonia-cystinuria syndrome		26247364, 27604308, 24610330, 16385448
Lambert-eaton myasthenic syndrome	Lambert-Eaton Myasthenic Syndrome		27472506
Motor delay	Clumsiness - motor delay
Nephrolithiasis	Nephrolithiasis
Premature menopause	Premature Menopause
Ptosis	Blepharoptosis, Ptosis	rs139920573
Somatotropin deficiency	Somatotropin deficiency

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