Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55690
Gene name	Phosphofurin acidic cluster sorting protein 1
Gene symbol	PACS1
Synonyms (NCBI Gene)	MRD17SHMS
Chromosome	11
Chromosome location	11q13.1-q13.2
Summary	This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of fur

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1064795125	G>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant

585

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miRTarBase ID	miRNA	Experiments	Reference
MIRT044795	hsa-miR-320a	CLASH	23622248
MIRT043109	hsa-miR-324-5p	CLASH	23622248
MIRT620231	hsa-miR-8485	HITS-CLIP	23824327
MIRT620230	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT620229	hsa-miR-7-5p	HITS-CLIP	23824327
MIRT620228	hsa-miR-6077	HITS-CLIP	23824327
MIRT620227	hsa-miR-6079	HITS-CLIP	23824327
MIRT626356	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626355	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626354	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT626353	hsa-miR-4324	HITS-CLIP	23824327
MIRT626352	hsa-miR-544b	HITS-CLIP	23824327
MIRT631776	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT626351	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626350	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631775	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT631774	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT626349	hsa-miR-4682	HITS-CLIP	23824327
MIRT626347	hsa-miR-4284	HITS-CLIP	23824327
MIRT626346	hsa-miR-1200	HITS-CLIP	23824327
MIRT626356	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626355	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626354	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT626353	hsa-miR-4324	HITS-CLIP	23824327
MIRT626352	hsa-miR-544b	HITS-CLIP	23824327
MIRT626351	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626350	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626349	hsa-miR-4682	HITS-CLIP	23824327
MIRT626348	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626347	hsa-miR-4284	HITS-CLIP	23824327
MIRT626346	hsa-miR-1200	HITS-CLIP	23824327
MIRT620231	hsa-miR-8485	HITS-CLIP	23824327
MIRT620230	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT620229	hsa-miR-7-5p	HITS-CLIP	23824327
MIRT620228	hsa-miR-6077	HITS-CLIP	23824327
MIRT620227	hsa-miR-6079	HITS-CLIP	23824327
MIRT530082	hsa-miR-4461	PAR-CLIP	22012620
MIRT530081	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT530080	hsa-miR-610	PAR-CLIP	22012620
MIRT530079	hsa-miR-3145-3p	PAR-CLIP	22012620
MIRT530078	hsa-miR-450b-3p	PAR-CLIP	22012620
MIRT530077	hsa-miR-769-3p	PAR-CLIP	22012620
MIRT530076	hsa-miR-6728-5p	PAR-CLIP	22012620
MIRT530075	hsa-miR-5089-5p	PAR-CLIP	22012620
MIRT530074	hsa-miR-599	PAR-CLIP	22012620
MIRT530073	hsa-miR-6513-5p	PAR-CLIP	22012620
MIRT446799	hsa-miR-3662	PAR-CLIP	22100165
MIRT446798	hsa-miR-935	PAR-CLIP	22100165
MIRT446797	hsa-miR-4711-5p	PAR-CLIP	22100165
MIRT446796	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446795	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446794	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446799	hsa-miR-3662	PAR-CLIP	22100165
MIRT446798	hsa-miR-935	PAR-CLIP	22100165
MIRT446797	hsa-miR-4711-5p	PAR-CLIP	22100165
MIRT446796	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446795	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446794	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT440058	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440058	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT626352	hsa-miR-544b	PAR-CLIP	26701625
MIRT620231	hsa-miR-8485	HITS-CLIP	23824327
MIRT620230	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT620229	hsa-miR-7-5p	HITS-CLIP	23824327
MIRT620228	hsa-miR-6077	HITS-CLIP	23824327
MIRT620227	hsa-miR-6079	HITS-CLIP	23824327
MIRT626356	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626355	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626354	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT626353	hsa-miR-4324	HITS-CLIP	23824327
MIRT626352	hsa-miR-544b	HITS-CLIP	23824327
MIRT631776	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT626351	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626350	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631775	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT631774	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT626349	hsa-miR-4682	HITS-CLIP	23824327
MIRT626347	hsa-miR-4284	HITS-CLIP	23824327
MIRT626346	hsa-miR-1200	HITS-CLIP	23824327
MIRT626356	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626355	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626354	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT626353	hsa-miR-4324	HITS-CLIP	23824327
MIRT626352	hsa-miR-544b	HITS-CLIP	23824327
MIRT626351	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626350	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626349	hsa-miR-4682	HITS-CLIP	23824327
MIRT626348	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626347	hsa-miR-4284	HITS-CLIP	23824327
MIRT626346	hsa-miR-1200	HITS-CLIP	23824327
MIRT620231	hsa-miR-8485	HITS-CLIP	23824327
MIRT620230	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT620229	hsa-miR-7-5p	HITS-CLIP	23824327
MIRT620228	hsa-miR-6077	HITS-CLIP	23824327
MIRT620227	hsa-miR-6079	HITS-CLIP	23824327
MIRT530082	hsa-miR-4461	PAR-CLIP	22012620
MIRT530081	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT530080	hsa-miR-610	PAR-CLIP	22012620
MIRT530079	hsa-miR-3145-3p	PAR-CLIP	22012620
MIRT530078	hsa-miR-450b-3p	PAR-CLIP	22012620
MIRT530077	hsa-miR-769-3p	PAR-CLIP	22012620
MIRT530076	hsa-miR-6728-5p	PAR-CLIP	22012620
MIRT530075	hsa-miR-5089-5p	PAR-CLIP	22012620
MIRT530074	hsa-miR-599	PAR-CLIP	22012620
MIRT530073	hsa-miR-6513-5p	PAR-CLIP	22012620
MIRT446799	hsa-miR-3662	PAR-CLIP	22100165
MIRT446798	hsa-miR-935	PAR-CLIP	22100165
MIRT446797	hsa-miR-4711-5p	PAR-CLIP	22100165
MIRT446796	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446795	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446794	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446799	hsa-miR-3662	PAR-CLIP	22100165
MIRT446798	hsa-miR-935	PAR-CLIP	22100165
MIRT446797	hsa-miR-4711-5p	PAR-CLIP	22100165
MIRT446796	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446795	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446794	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT1209773	hsa-miR-1184	CLIP-seq
MIRT1209774	hsa-miR-1197	CLIP-seq
MIRT1209775	hsa-miR-1205	CLIP-seq
MIRT1209776	hsa-miR-1252	CLIP-seq
MIRT1209777	hsa-miR-1254	CLIP-seq
MIRT1209778	hsa-miR-1262	CLIP-seq
MIRT1209779	hsa-miR-1285	CLIP-seq
MIRT1209780	hsa-miR-1287	CLIP-seq
MIRT1209781	hsa-miR-1293	CLIP-seq
MIRT1209782	hsa-miR-140-3p	CLIP-seq
MIRT1209783	hsa-miR-143	CLIP-seq
MIRT1209784	hsa-miR-146a	CLIP-seq
MIRT1209785	hsa-miR-146b-5p	CLIP-seq
MIRT1209786	hsa-miR-1538	CLIP-seq
MIRT1209787	hsa-miR-1587	CLIP-seq
MIRT1209788	hsa-miR-1827	CLIP-seq
MIRT1209789	hsa-miR-1909	CLIP-seq
MIRT1209790	hsa-miR-1910	CLIP-seq
MIRT1209791	hsa-miR-193a-5p	CLIP-seq
MIRT1209792	hsa-miR-19a	CLIP-seq
MIRT1209793	hsa-miR-19b	CLIP-seq
MIRT1209794	hsa-miR-2278	CLIP-seq
MIRT1209795	hsa-miR-2392	CLIP-seq
MIRT1209796	hsa-miR-2467-3p	CLIP-seq
MIRT1209797	hsa-miR-296-5p	CLIP-seq
MIRT1209798	hsa-miR-3064-5p	CLIP-seq
MIRT1209799	hsa-miR-3116	CLIP-seq
MIRT1209800	hsa-miR-3133	CLIP-seq
MIRT1209801	hsa-miR-3135b	CLIP-seq
MIRT1209802	hsa-miR-3153	CLIP-seq
MIRT1209803	hsa-miR-3154	CLIP-seq
MIRT1209804	hsa-miR-3158-5p	CLIP-seq
MIRT1209805	hsa-miR-3173-3p	CLIP-seq
MIRT1209806	hsa-miR-3175	CLIP-seq
MIRT1209807	hsa-miR-3177-3p	CLIP-seq
MIRT1209808	hsa-miR-3179	CLIP-seq
MIRT1209809	hsa-miR-3184	CLIP-seq
MIRT1209810	hsa-miR-3187-5p	CLIP-seq
MIRT1209811	hsa-miR-3189-3p	CLIP-seq
MIRT1209812	hsa-miR-3190	CLIP-seq
MIRT1209813	hsa-miR-3192	CLIP-seq
MIRT1209814	hsa-miR-3202	CLIP-seq
MIRT1209815	hsa-miR-342-5p	CLIP-seq
MIRT1209816	hsa-miR-3605-5p	CLIP-seq
MIRT1209817	hsa-miR-3612	CLIP-seq
MIRT1209818	hsa-miR-3650	CLIP-seq
MIRT1209819	hsa-miR-3652	CLIP-seq
MIRT1209820	hsa-miR-3657	CLIP-seq
MIRT1209821	hsa-miR-3664-3p	CLIP-seq
MIRT1209822	hsa-miR-3689a-3p	CLIP-seq
MIRT1209823	hsa-miR-3689c	CLIP-seq
MIRT1209824	hsa-miR-370	CLIP-seq
MIRT1209825	hsa-miR-3714	CLIP-seq
MIRT1209826	hsa-miR-378g	CLIP-seq
MIRT1209827	hsa-miR-3909	CLIP-seq
MIRT1209828	hsa-miR-3936	CLIP-seq
MIRT1209829	hsa-miR-3944-5p	CLIP-seq
MIRT1209830	hsa-miR-423-5p	CLIP-seq
MIRT1209831	hsa-miR-4251	CLIP-seq
MIRT1209832	hsa-miR-4254	CLIP-seq
MIRT1209833	hsa-miR-4264	CLIP-seq
MIRT1209834	hsa-miR-4271	CLIP-seq
MIRT1209835	hsa-miR-4417	CLIP-seq
MIRT1209836	hsa-miR-4419a	CLIP-seq
MIRT1209837	hsa-miR-4428	CLIP-seq
MIRT1209838	hsa-miR-4430	CLIP-seq
MIRT1209839	hsa-miR-4434	CLIP-seq
MIRT1209840	hsa-miR-4436a	CLIP-seq
MIRT1209841	hsa-miR-4443	CLIP-seq
MIRT1209842	hsa-miR-4447	CLIP-seq
MIRT1209843	hsa-miR-4457	CLIP-seq
MIRT1209844	hsa-miR-4459	CLIP-seq
MIRT1209845	hsa-miR-4462	CLIP-seq
MIRT1209846	hsa-miR-4463	CLIP-seq
MIRT1209847	hsa-miR-4472	CLIP-seq
MIRT1209848	hsa-miR-4483	CLIP-seq
MIRT1209849	hsa-miR-4486	CLIP-seq
MIRT1209850	hsa-miR-4492	CLIP-seq
MIRT1209851	hsa-miR-4498	CLIP-seq
MIRT1209852	hsa-miR-4505	CLIP-seq
MIRT1209853	hsa-miR-4510	CLIP-seq
MIRT1209854	hsa-miR-4514	CLIP-seq
MIRT1209855	hsa-miR-4516	CLIP-seq
MIRT1209856	hsa-miR-4521	CLIP-seq
MIRT1209857	hsa-miR-4533	CLIP-seq
MIRT1209858	hsa-miR-455-3p	CLIP-seq
MIRT1209859	hsa-miR-4651	CLIP-seq
MIRT1209860	hsa-miR-4652-5p	CLIP-seq
MIRT1209861	hsa-miR-4656	CLIP-seq
MIRT1209862	hsa-miR-4664-5p	CLIP-seq
MIRT1209863	hsa-miR-4668-5p	CLIP-seq
MIRT1209864	hsa-miR-4669	CLIP-seq
MIRT1209865	hsa-miR-4675	CLIP-seq
MIRT1209866	hsa-miR-4685-5p	CLIP-seq
MIRT1209867	hsa-miR-4692	CLIP-seq
MIRT1209868	hsa-miR-4701-3p	CLIP-seq
MIRT1209869	hsa-miR-4710	CLIP-seq
MIRT1209870	hsa-miR-4716-3p	CLIP-seq
MIRT1209871	hsa-miR-4717-3p	CLIP-seq
MIRT1209872	hsa-miR-4722-5p	CLIP-seq
MIRT1209873	hsa-miR-4723-5p	CLIP-seq
MIRT1209874	hsa-miR-4725-3p	CLIP-seq
MIRT1209875	hsa-miR-4728-5p	CLIP-seq
MIRT1209876	hsa-miR-4731-5p	CLIP-seq
MIRT1209877	hsa-miR-4741	CLIP-seq
MIRT1209878	hsa-miR-4745-3p	CLIP-seq
MIRT1209879	hsa-miR-4747-5p	CLIP-seq
MIRT1209880	hsa-miR-4749-3p	CLIP-seq
MIRT1209881	hsa-miR-4755-3p	CLIP-seq
MIRT1209882	hsa-miR-4770	CLIP-seq
MIRT1209883	hsa-miR-4773	CLIP-seq
MIRT1209884	hsa-miR-4779	CLIP-seq
MIRT1209885	hsa-miR-4786-3p	CLIP-seq
MIRT1209886	hsa-miR-483-3p	CLIP-seq
MIRT1209887	hsa-miR-490-3p	CLIP-seq
MIRT1209888	hsa-miR-510	CLIP-seq
MIRT1209889	hsa-miR-517a	CLIP-seq
MIRT1209890	hsa-miR-517b	CLIP-seq
MIRT1209891	hsa-miR-517c	CLIP-seq
MIRT1209892	hsa-miR-518a-5p	CLIP-seq
MIRT1209893	hsa-miR-527	CLIP-seq
MIRT1209894	hsa-miR-541	CLIP-seq
MIRT1209895	hsa-miR-548a-3p	CLIP-seq
MIRT1209896	hsa-miR-548aa	CLIP-seq
MIRT1209897	hsa-miR-548ae	CLIP-seq
MIRT1209898	hsa-miR-548aj	CLIP-seq
MIRT1209899	hsa-miR-548am	CLIP-seq
MIRT1209900	hsa-miR-548an	CLIP-seq
MIRT1209901	hsa-miR-548b-3p	CLIP-seq
MIRT1209902	hsa-miR-548e	CLIP-seq
MIRT1209903	hsa-miR-548f	CLIP-seq
MIRT1209904	hsa-miR-548q	CLIP-seq
MIRT1209905	hsa-miR-548x	CLIP-seq
MIRT1209906	hsa-miR-589	CLIP-seq
MIRT1209907	hsa-miR-592	CLIP-seq
MIRT1209908	hsa-miR-596	CLIP-seq
MIRT1209909	hsa-miR-597	CLIP-seq
MIRT1209910	hsa-miR-608	CLIP-seq
MIRT1209911	hsa-miR-612	CLIP-seq
MIRT1209912	hsa-miR-625	CLIP-seq
MIRT1209913	hsa-miR-635	CLIP-seq
MIRT1209914	hsa-miR-637	CLIP-seq
MIRT1209915	hsa-miR-650	CLIP-seq
MIRT1209916	hsa-miR-654-5p	CLIP-seq
MIRT1209917	hsa-miR-671-5p	CLIP-seq
MIRT1209918	hsa-miR-676	CLIP-seq
MIRT1209919	hsa-miR-759	CLIP-seq
MIRT1209920	hsa-miR-762	CLIP-seq
MIRT1209921	hsa-miR-765	CLIP-seq
MIRT1209922	hsa-miR-873	CLIP-seq
MIRT1209923	hsa-miR-922	CLIP-seq
MIRT1209924	hsa-miR-940	CLIP-seq
MIRT1209776	hsa-miR-1252	CLIP-seq
MIRT1209778	hsa-miR-1262	CLIP-seq
MIRT2060161	hsa-miR-1275	CLIP-seq
MIRT1209780	hsa-miR-1287	CLIP-seq
MIRT1209781	hsa-miR-1293	CLIP-seq
MIRT2060162	hsa-miR-1321	CLIP-seq
MIRT2060163	hsa-miR-1324	CLIP-seq
MIRT1209782	hsa-miR-140-3p	CLIP-seq
MIRT1209783	hsa-miR-143	CLIP-seq
MIRT2060164	hsa-miR-148a	CLIP-seq
MIRT2060165	hsa-miR-148b	CLIP-seq
MIRT2060166	hsa-miR-152	CLIP-seq
MIRT2060167	hsa-miR-1825	CLIP-seq
MIRT1209788	hsa-miR-1827	CLIP-seq
MIRT1209789	hsa-miR-1909	CLIP-seq
MIRT1209790	hsa-miR-1910	CLIP-seq
MIRT1209792	hsa-miR-19a	CLIP-seq
MIRT1209793	hsa-miR-19b	CLIP-seq
MIRT2060168	hsa-miR-2277-3p	CLIP-seq
MIRT2060169	hsa-miR-24	CLIP-seq
MIRT1209796	hsa-miR-2467-3p	CLIP-seq
MIRT1209797	hsa-miR-296-5p	CLIP-seq
MIRT1209800	hsa-miR-3133	CLIP-seq
MIRT1209801	hsa-miR-3135b	CLIP-seq
MIRT2060170	hsa-miR-3160-3p	CLIP-seq
MIRT2060171	hsa-miR-3176	CLIP-seq
MIRT1209808	hsa-miR-3179	CLIP-seq
MIRT1209809	hsa-miR-3184	CLIP-seq
MIRT1209811	hsa-miR-3189-3p	CLIP-seq
MIRT1209812	hsa-miR-3190	CLIP-seq
MIRT1209813	hsa-miR-3192	CLIP-seq
MIRT2060172	hsa-miR-323-5p	CLIP-seq
MIRT2060173	hsa-miR-346	CLIP-seq
MIRT2060174	hsa-miR-3611	CLIP-seq
MIRT1209817	hsa-miR-3612	CLIP-seq
MIRT1209818	hsa-miR-3650	CLIP-seq
MIRT1209819	hsa-miR-3652	CLIP-seq
MIRT1209822	hsa-miR-3689a-3p	CLIP-seq
MIRT1209823	hsa-miR-3689c	CLIP-seq
MIRT2060175	hsa-miR-3689d	CLIP-seq
MIRT2060176	hsa-miR-3691-3p	CLIP-seq
MIRT1209824	hsa-miR-370	CLIP-seq
MIRT2060177	hsa-miR-3922-3p	CLIP-seq
MIRT1209830	hsa-miR-423-5p	CLIP-seq
MIRT1209833	hsa-miR-4264	CLIP-seq
MIRT1209836	hsa-miR-4419a	CLIP-seq
MIRT1209838	hsa-miR-4430	CLIP-seq
MIRT2060178	hsa-miR-4437	CLIP-seq
MIRT1209841	hsa-miR-4443	CLIP-seq
MIRT2060179	hsa-miR-4446-3p	CLIP-seq
MIRT1209842	hsa-miR-4447	CLIP-seq
MIRT2060180	hsa-miR-4455	CLIP-seq
MIRT2060181	hsa-miR-4456	CLIP-seq
MIRT1209843	hsa-miR-4457	CLIP-seq
MIRT1209845	hsa-miR-4462	CLIP-seq
MIRT1209847	hsa-miR-4472	CLIP-seq
MIRT2060182	hsa-miR-4476	CLIP-seq
MIRT1209848	hsa-miR-4483	CLIP-seq
MIRT2060183	hsa-miR-4487	CLIP-seq
MIRT1209850	hsa-miR-4492	CLIP-seq
MIRT2060184	hsa-miR-4493	CLIP-seq
MIRT1209851	hsa-miR-4498	CLIP-seq
MIRT1209852	hsa-miR-4505	CLIP-seq
MIRT1209853	hsa-miR-4510	CLIP-seq
MIRT1209854	hsa-miR-4514	CLIP-seq
MIRT2060185	hsa-miR-4525	CLIP-seq
MIRT2060186	hsa-miR-4527	CLIP-seq
MIRT1209857	hsa-miR-4533	CLIP-seq
MIRT1209858	hsa-miR-455-3p	CLIP-seq
MIRT2060187	hsa-miR-4645-5p	CLIP-seq
MIRT2060188	hsa-miR-4649-3p	CLIP-seq
MIRT1209859	hsa-miR-4651	CLIP-seq
MIRT1209860	hsa-miR-4652-5p	CLIP-seq
MIRT2060189	hsa-miR-4665-5p	CLIP-seq
MIRT2060190	hsa-miR-4670-5p	CLIP-seq
MIRT2060191	hsa-miR-4673	CLIP-seq
MIRT1209866	hsa-miR-4685-5p	CLIP-seq
MIRT1209867	hsa-miR-4692	CLIP-seq
MIRT1209868	hsa-miR-4701-3p	CLIP-seq
MIRT1209869	hsa-miR-4710	CLIP-seq
MIRT1209871	hsa-miR-4717-3p	CLIP-seq
MIRT1209872	hsa-miR-4722-5p	CLIP-seq
MIRT1209873	hsa-miR-4723-5p	CLIP-seq
MIRT1209875	hsa-miR-4728-5p	CLIP-seq
MIRT1209876	hsa-miR-4731-5p	CLIP-seq
MIRT2060192	hsa-miR-4739	CLIP-seq
MIRT1209879	hsa-miR-4747-5p	CLIP-seq
MIRT2060193	hsa-miR-4756-5p	CLIP-seq
MIRT1209882	hsa-miR-4770	CLIP-seq
MIRT1209884	hsa-miR-4779	CLIP-seq
MIRT1209885	hsa-miR-4786-3p	CLIP-seq
MIRT2060194	hsa-miR-4790-3p	CLIP-seq
MIRT2060195	hsa-miR-4792	CLIP-seq
MIRT1209887	hsa-miR-490-3p	CLIP-seq
MIRT2060196	hsa-miR-494	CLIP-seq
MIRT2060197	hsa-miR-515-5p	CLIP-seq
MIRT1209892	hsa-miR-518a-5p	CLIP-seq
MIRT1209893	hsa-miR-527	CLIP-seq
MIRT1209894	hsa-miR-541	CLIP-seq
MIRT1209901	hsa-miR-548b-3p	CLIP-seq
MIRT2060198	hsa-miR-558	CLIP-seq
MIRT1209907	hsa-miR-592	CLIP-seq
MIRT1209909	hsa-miR-597	CLIP-seq
MIRT1209910	hsa-miR-608	CLIP-seq
MIRT1209912	hsa-miR-625	CLIP-seq
MIRT1209914	hsa-miR-637	CLIP-seq
MIRT1209915	hsa-miR-650	CLIP-seq
MIRT2060199	hsa-miR-654-3p	CLIP-seq
MIRT1209916	hsa-miR-654-5p	CLIP-seq
MIRT2060200	hsa-miR-661	CLIP-seq
MIRT1209917	hsa-miR-671-5p	CLIP-seq
MIRT1209920	hsa-miR-762	CLIP-seq
MIRT1209921	hsa-miR-765	CLIP-seq
MIRT2060201	hsa-miR-876-3p	CLIP-seq
MIRT1209924	hsa-miR-940	CLIP-seq
MIRT2288564	hsa-miR-1224-3p	CLIP-seq
MIRT2288565	hsa-miR-1260	CLIP-seq
MIRT2288566	hsa-miR-1260b	CLIP-seq
MIRT1209778	hsa-miR-1262	CLIP-seq
MIRT2060161	hsa-miR-1275	CLIP-seq
MIRT2288567	hsa-miR-1280	CLIP-seq
MIRT1209780	hsa-miR-1287	CLIP-seq
MIRT2060162	hsa-miR-1321	CLIP-seq
MIRT2060163	hsa-miR-1324	CLIP-seq
MIRT1209783	hsa-miR-143	CLIP-seq
MIRT2288568	hsa-miR-1470	CLIP-seq
MIRT2060164	hsa-miR-148a	CLIP-seq
MIRT2060165	hsa-miR-148b	CLIP-seq
MIRT2060166	hsa-miR-152	CLIP-seq
MIRT1209787	hsa-miR-1587	CLIP-seq
MIRT2060167	hsa-miR-1825	CLIP-seq
MIRT1209788	hsa-miR-1827	CLIP-seq
MIRT1209790	hsa-miR-1910	CLIP-seq
MIRT2288569	hsa-miR-2114	CLIP-seq
MIRT2060168	hsa-miR-2277-3p	CLIP-seq
MIRT1209795	hsa-miR-2392	CLIP-seq
MIRT1209796	hsa-miR-2467-3p	CLIP-seq
MIRT1209798	hsa-miR-3064-5p	CLIP-seq
MIRT1209801	hsa-miR-3135b	CLIP-seq
MIRT2288570	hsa-miR-3183	CLIP-seq
MIRT1209809	hsa-miR-3184	CLIP-seq
MIRT1209812	hsa-miR-3190	CLIP-seq
MIRT1209813	hsa-miR-3192	CLIP-seq
MIRT1209814	hsa-miR-3202	CLIP-seq
MIRT2060172	hsa-miR-323-5p	CLIP-seq
MIRT1209815	hsa-miR-342-5p	CLIP-seq
MIRT2060173	hsa-miR-346	CLIP-seq
MIRT1209816	hsa-miR-3605-5p	CLIP-seq
MIRT1209817	hsa-miR-3612	CLIP-seq
MIRT1209819	hsa-miR-3652	CLIP-seq
MIRT2288571	hsa-miR-3678-3p	CLIP-seq
MIRT1209822	hsa-miR-3689a-3p	CLIP-seq
MIRT1209823	hsa-miR-3689c	CLIP-seq
MIRT2060176	hsa-miR-3691-3p	CLIP-seq
MIRT1209824	hsa-miR-370	CLIP-seq
MIRT1209826	hsa-miR-378g	CLIP-seq
MIRT1209830	hsa-miR-423-5p	CLIP-seq
MIRT1209833	hsa-miR-4264	CLIP-seq
MIRT2288572	hsa-miR-4270	CLIP-seq
MIRT2288573	hsa-miR-4279	CLIP-seq
MIRT1209836	hsa-miR-4419a	CLIP-seq
MIRT1209838	hsa-miR-4430	CLIP-seq
MIRT2288574	hsa-miR-4441	CLIP-seq
MIRT2060179	hsa-miR-4446-3p	CLIP-seq
MIRT1209842	hsa-miR-4447	CLIP-seq
MIRT2060180	hsa-miR-4455	CLIP-seq
MIRT1209845	hsa-miR-4462	CLIP-seq
MIRT1209847	hsa-miR-4472	CLIP-seq
MIRT1209850	hsa-miR-4492	CLIP-seq
MIRT1209851	hsa-miR-4498	CLIP-seq
MIRT1209852	hsa-miR-4505	CLIP-seq
MIRT1209853	hsa-miR-4510	CLIP-seq
MIRT2060185	hsa-miR-4525	CLIP-seq
MIRT2060186	hsa-miR-4527	CLIP-seq
MIRT1209857	hsa-miR-4533	CLIP-seq
MIRT1209858	hsa-miR-455-3p	CLIP-seq
MIRT2060188	hsa-miR-4649-3p	CLIP-seq
MIRT1209860	hsa-miR-4652-5p	CLIP-seq
MIRT1209861	hsa-miR-4656	CLIP-seq
MIRT1209862	hsa-miR-4664-5p	CLIP-seq
MIRT2060189	hsa-miR-4665-5p	CLIP-seq
MIRT2288575	hsa-miR-4667-3p	CLIP-seq
MIRT2060190	hsa-miR-4670-5p	CLIP-seq
MIRT1209865	hsa-miR-4675	CLIP-seq
MIRT1209866	hsa-miR-4685-5p	CLIP-seq
MIRT1209868	hsa-miR-4701-3p	CLIP-seq
MIRT1209869	hsa-miR-4710	CLIP-seq
MIRT2288576	hsa-miR-4721	CLIP-seq
MIRT1209872	hsa-miR-4722-5p	CLIP-seq
MIRT2288577	hsa-miR-4723-3p	CLIP-seq
MIRT1209873	hsa-miR-4723-5p	CLIP-seq
MIRT1209875	hsa-miR-4728-5p	CLIP-seq
MIRT1209876	hsa-miR-4731-5p	CLIP-seq
MIRT2060192	hsa-miR-4739	CLIP-seq
MIRT1209877	hsa-miR-4741	CLIP-seq
MIRT1209879	hsa-miR-4747-5p	CLIP-seq
MIRT2060193	hsa-miR-4756-5p	CLIP-seq
MIRT1209882	hsa-miR-4770	CLIP-seq
MIRT1209884	hsa-miR-4779	CLIP-seq
MIRT1209885	hsa-miR-4786-3p	CLIP-seq
MIRT2060194	hsa-miR-4790-3p	CLIP-seq
MIRT1209887	hsa-miR-490-3p	CLIP-seq
MIRT2060196	hsa-miR-494	CLIP-seq
MIRT2060197	hsa-miR-515-5p	CLIP-seq
MIRT2288578	hsa-miR-532-3p	CLIP-seq
MIRT1209894	hsa-miR-541	CLIP-seq
MIRT1209896	hsa-miR-548aa	CLIP-seq
MIRT1209907	hsa-miR-592	CLIP-seq
MIRT1209908	hsa-miR-596	CLIP-seq
MIRT1209909	hsa-miR-597	CLIP-seq
MIRT1209912	hsa-miR-625	CLIP-seq
MIRT1209914	hsa-miR-637	CLIP-seq
MIRT1209915	hsa-miR-650	CLIP-seq
MIRT2060199	hsa-miR-654-3p	CLIP-seq
MIRT1209916	hsa-miR-654-5p	CLIP-seq
MIRT1209917	hsa-miR-671-5p	CLIP-seq
MIRT1209920	hsa-miR-762	CLIP-seq
MIRT1209921	hsa-miR-765	CLIP-seq
MIRT2060201	hsa-miR-876-3p	CLIP-seq
MIRT1209924	hsa-miR-940	CLIP-seq
MIRT2060161	hsa-miR-1275	CLIP-seq
MIRT1209780	hsa-miR-1287	CLIP-seq
MIRT2060163	hsa-miR-1324	CLIP-seq
MIRT1209783	hsa-miR-143	CLIP-seq
MIRT1209790	hsa-miR-1910	CLIP-seq
MIRT1209801	hsa-miR-3135b	CLIP-seq
MIRT1209809	hsa-miR-3184	CLIP-seq
MIRT2060172	hsa-miR-323-5p	CLIP-seq
MIRT1209822	hsa-miR-3689a-3p	CLIP-seq
MIRT1209823	hsa-miR-3689c	CLIP-seq
MIRT1209824	hsa-miR-370	CLIP-seq
MIRT1209830	hsa-miR-423-5p	CLIP-seq
MIRT1209833	hsa-miR-4264	CLIP-seq
MIRT1209836	hsa-miR-4419a	CLIP-seq
MIRT1209842	hsa-miR-4447	CLIP-seq
MIRT1209845	hsa-miR-4462	CLIP-seq
MIRT1209847	hsa-miR-4472	CLIP-seq
MIRT1209853	hsa-miR-4510	CLIP-seq
MIRT2060185	hsa-miR-4525	CLIP-seq
MIRT1209857	hsa-miR-4533	CLIP-seq
MIRT1209858	hsa-miR-455-3p	CLIP-seq
MIRT1209860	hsa-miR-4652-5p	CLIP-seq
MIRT2060189	hsa-miR-4665-5p	CLIP-seq
MIRT1209866	hsa-miR-4685-5p	CLIP-seq
MIRT1209869	hsa-miR-4710	CLIP-seq
MIRT1209873	hsa-miR-4723-5p	CLIP-seq
MIRT1209875	hsa-miR-4728-5p	CLIP-seq
MIRT1209879	hsa-miR-4747-5p	CLIP-seq
MIRT1209882	hsa-miR-4770	CLIP-seq
MIRT1209884	hsa-miR-4779	CLIP-seq
MIRT2060194	hsa-miR-4790-3p	CLIP-seq
MIRT2060195	hsa-miR-4792	CLIP-seq
MIRT2060196	hsa-miR-494	CLIP-seq
MIRT1209894	hsa-miR-541	CLIP-seq
MIRT1209912	hsa-miR-625	CLIP-seq
MIRT1209914	hsa-miR-637	CLIP-seq
MIRT1209916	hsa-miR-654-5p	CLIP-seq
MIRT2060200	hsa-miR-661	CLIP-seq
MIRT1209921	hsa-miR-765	CLIP-seq
MIRT2060201	hsa-miR-876-3p	CLIP-seq
MIRT1209907	hsa-miR-592	CLIP-seq
MIRT1209909	hsa-miR-597	CLIP-seq
MIRT1209918	hsa-miR-676	CLIP-seq
MIRT1209795	hsa-miR-2392	CLIP-seq
MIRT1209798	hsa-miR-3064-5p	CLIP-seq
MIRT1209813	hsa-miR-3192	CLIP-seq
MIRT1209816	hsa-miR-3605-5p	CLIP-seq
MIRT1209819	hsa-miR-3652	CLIP-seq
MIRT1209822	hsa-miR-3689a-3p	CLIP-seq
MIRT1209823	hsa-miR-3689c	CLIP-seq
MIRT1209838	hsa-miR-4430	CLIP-seq
MIRT1209852	hsa-miR-4505	CLIP-seq
MIRT1209875	hsa-miR-4728-5p	CLIP-seq
MIRT1209887	hsa-miR-490-3p	CLIP-seq
MIRT2060163	hsa-miR-1324	CLIP-seq
MIRT1209783	hsa-miR-143	CLIP-seq
MIRT1209809	hsa-miR-3184	CLIP-seq
MIRT2060172	hsa-miR-323-5p	CLIP-seq
MIRT1209822	hsa-miR-3689a-3p	CLIP-seq
MIRT1209823	hsa-miR-3689c	CLIP-seq
MIRT1209830	hsa-miR-423-5p	CLIP-seq
MIRT1209836	hsa-miR-4419a	CLIP-seq
MIRT1209842	hsa-miR-4447	CLIP-seq
MIRT1209845	hsa-miR-4462	CLIP-seq
MIRT1209847	hsa-miR-4472	CLIP-seq
MIRT1209853	hsa-miR-4510	CLIP-seq
MIRT2060188	hsa-miR-4649-3p	CLIP-seq
MIRT1209875	hsa-miR-4728-5p	CLIP-seq
MIRT1209882	hsa-miR-4770	CLIP-seq
MIRT1209884	hsa-miR-4779	CLIP-seq
MIRT2060194	hsa-miR-4790-3p	CLIP-seq
MIRT2060196	hsa-miR-494	CLIP-seq
MIRT1209894	hsa-miR-541	CLIP-seq
MIRT2060199	hsa-miR-654-3p	CLIP-seq
MIRT1209916	hsa-miR-654-5p	CLIP-seq
MIRT1209921	hsa-miR-765	CLIP-seq
MIRT2060201	hsa-miR-876-3p	CLIP-seq
MIRT2060163	hsa-miR-1324	CLIP-seq
MIRT1209783	hsa-miR-143	CLIP-seq
MIRT2060172	hsa-miR-323-5p	CLIP-seq
MIRT1209822	hsa-miR-3689a-3p	CLIP-seq
MIRT1209823	hsa-miR-3689c	CLIP-seq
MIRT1209836	hsa-miR-4419a	CLIP-seq
MIRT1209842	hsa-miR-4447	CLIP-seq
MIRT1209845	hsa-miR-4462	CLIP-seq
MIRT1209847	hsa-miR-4472	CLIP-seq
MIRT1209853	hsa-miR-4510	CLIP-seq
MIRT1209875	hsa-miR-4728-5p	CLIP-seq
MIRT1209882	hsa-miR-4770	CLIP-seq
MIRT1209884	hsa-miR-4779	CLIP-seq
MIRT2060194	hsa-miR-4790-3p	CLIP-seq
MIRT2060196	hsa-miR-494	CLIP-seq
MIRT1209894	hsa-miR-541	CLIP-seq
MIRT1209916	hsa-miR-654-5p	CLIP-seq
MIRT1209921	hsa-miR-765	CLIP-seq
MIRT2060201	hsa-miR-876-3p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0002260	Process	Lymphocyte homeostasis	ISS
GO:0005515	Function	Protein binding	IPI	10707087, 16977309, 17855360, 24001769, 32814053, 34642815
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0030137	Component	COPI-coated vesicle	IEA
GO:0034067	Process	Protein localization to Golgi apparatus	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IPI	15692563
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IMP	15692563

MIM	HGNC	e!Ensembl
607492	30032	ENSG00000175115

Q6VY07

Protein name

Phosphofurin acidic cluster sorting protein 1 (PACS-1)

Protein function

Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10254	Pacs-1	548 → 960	PACS-1 cytosolic sorting protein	Family

Sequence

MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSST
SAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYATWEVDRSSSSCVPRL
FSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIVLPASGLVETELQLTFSLQYP
HFLKRDANKLQIMLQRRKRYKNRTILGYKTLAVGLINMAEVMQHPNEGALVLGLHSNVKD
VSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQD
LFYEDEDLRKVKKTRRKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIR
EVEEDLDELYDSLEMYNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNS
KGSLGKDTTSPMELAALEKIKSTWIKNQDDSLTETDTLEITDQDMFGDASTSLVVPEKVK
TPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSERTNSSDSERSPDLGHS
TQIPRKVVYDQLNQILVSDAALPENVILVNTTDWQGQYVAELLQDQRKPVVCTCSTVEVQ
AVLSALLTRIQRYCNCNSSMPRPVKVAAVGGQSYLSSILRFFVKSLANKTSDWLGYMRFL
IIPLGSHPVAKYLGSVDSKYSSSFLDSGWRDLFSRSEPPVSEQLDVAGRVMQYVNGAATT
HQLPVAEAMLTCRHKFPDEDSYQKFIPFIGVVKVGLVEDSPSTAGDGDDSPVVSLTVPST
SPPSSSGLSRDATATPPSSPSMSSALAIVGSPNSPYGDVIGLQVDYWLGHPGERRREGDK
RDASSKNTLKSVFRSVQVSRLPHSGEAQLSGTMAMTVVTKEKNKKVPTIFLSKKPREKEV
DSKSQVIEGISRLICSAKQQQTMLRVSIDGVEWSDIKFFQLAAQWPTHVKHFPVGLFSGS
KAT

Sequence length

963

Interactions

View interactions

	Reactome
			Nef mediated downregulation of MHC class I complex cell surface expression

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Likely pathogenic; Pathogenic	rs398123009	RCV001255394	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2495549778, rs398123009	RCV002463874 RCV001310258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs398123009	RCV001375021	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PACS1-related disorder	Likely pathogenic; Pathogenic	rs398123009	RCV003398585	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PACS1-related syndrome	Likely pathogenic; Pathogenic	rs398123009	RCV001095741	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schuurs-Hoeijmakers syndrome	Pathogenic; Likely pathogenic	rs2134735819, rs2495230982, rs398123009	RCV002250169 RCV002465456 RCV000032781	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (70)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Apraxia of Phonation	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34948243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	34517877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29550517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	34068396, 34517877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	28111752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	23159249, 25522177, 26842493, 28111752, 28975623, 9695949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29656858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34517877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	30568311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gelastic Epilepsy	Epilepsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29550517		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Horseshoe Kidney	Horseshoe Kidney	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23159249, 28111752, 30588754, 30690871		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23159249, 30712880		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28111752, 34517877, 38521709	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17	Mental retardation	UNIPROT_DG	23159249		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17	Mental retardation	CLINVAR_DG	23159249, 26795593		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17	Mental retardation	GENOMICS_ENGLAND_DG	23159249		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17	Mental retardation	ORPHANET_DG	23159249		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17	Mental retardation	BEFREE	28975623, 30588754, 30690871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	25356970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24042169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	23563609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	23563609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	23563609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	23563609, 28564656	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	28564656		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	23563609, 28564656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral aversion	Oral aversion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial absence of cerebellar vermis	Partial absence of cerebellar vermis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28111752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29670108	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33028635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PACS1 (phosphofurin acidic cluster sorting protein 1)