SEC23A (SEC23 homolog A, COPII component)

Gene

• Entrez ID: 10484
• Gene name: SEC23 homolog A, COPII component
• Gene symbol: SEC23A
• Synonyms (NCBI Gene): CLSD, hSec23A
• Chromosome: 14
• Chromosome location: 14q21.1
• Summary: The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has sim

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118204000	A>G	Pathogenic	Missense variant, coding sequence variant
rs138568622	T>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005152	hsa-miR-30a-5p	pSILAC	18668040
MIRT016564	hsa-miR-193b-3p	Proteomics	21512034
MIRT020062	hsa-miR-375	Microarray	20215506
MIRT028115	hsa-miR-93-5p	Sequencing	20371350
MIRT005152	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT054103	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, QRTPCR	23497265
MIRT054103	hsa-miR-200c-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, QRTPCR	23497265
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT438166	hsa-miR-200b-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	24337069
MIRT486279	hsa-miR-4282	PAR-CLIP	23592263
MIRT438166	hsa-miR-200b-3p	PAR-CLIP	23592263
MIRT054103	hsa-miR-200c-3p	PAR-CLIP	23592263
MIRT486278	hsa-miR-429	PAR-CLIP	23592263
MIRT486276	hsa-miR-5700	PAR-CLIP	23592263
MIRT486277	hsa-miR-6800-3p	PAR-CLIP	23592263
MIRT486275	hsa-miR-4724-5p	PAR-CLIP	23592263
MIRT486274	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT486273	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT486272	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT486271	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT486270	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT486269	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT486268	hsa-miR-4777-3p	PAR-CLIP	23592263
MIRT069955	hsa-miR-548aw	PAR-CLIP	23592263
MIRT439690	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439689	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439688	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439690	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439689	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726644	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726645	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT028115	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726643	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439688	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT020062	hsa-miR-375	Flow, Immunohistochemistry, qRT-PCR, Western blot	27832783
MIRT486274	hsa-miR-1252-5p	PAR-CLIP	27292025
MIRT486269	hsa-miR-1468-3p	PAR-CLIP	27292025
MIRT438166	hsa-miR-200b-3p	PAR-CLIP	27292025
MIRT054103	hsa-miR-200c-3p	PAR-CLIP	27292025
MIRT486278	hsa-miR-429	PAR-CLIP	27292025
MIRT486275	hsa-miR-4724-5p	PAR-CLIP	27292025
MIRT486273	hsa-miR-548aj-5p	PAR-CLIP	27292025
MIRT069955	hsa-miR-548aw	PAR-CLIP	27292025
MIRT486272	hsa-miR-548f-5p	PAR-CLIP	27292025
MIRT486271	hsa-miR-548g-5p	PAR-CLIP	27292025
MIRT486270	hsa-miR-548x-5p	PAR-CLIP	27292025
MIRT486276	hsa-miR-5700	PAR-CLIP	27292025
MIRT486279	hsa-miR-4282	PAR-CLIP	23592263
MIRT438166	hsa-miR-200b-3p	PAR-CLIP	23592263
MIRT054103	hsa-miR-200c-3p	PAR-CLIP	23592263
MIRT486278	hsa-miR-429	PAR-CLIP	23592263
MIRT486276	hsa-miR-5700	PAR-CLIP	23592263
MIRT486277	hsa-miR-6800-3p	PAR-CLIP	23592263
MIRT486275	hsa-miR-4724-5p	PAR-CLIP	23592263
MIRT486274	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT486273	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT486272	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT486271	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT486270	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT486269	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT486268	hsa-miR-4777-3p	PAR-CLIP	23592263
MIRT069955	hsa-miR-548aw	PAR-CLIP	23592263
MIRT1332788	hsa-miR-1206	CLIP-seq
MIRT1332789	hsa-miR-1207-3p	CLIP-seq
MIRT1332790	hsa-miR-1227	CLIP-seq
MIRT1332791	hsa-miR-1245b-5p	CLIP-seq
MIRT1332792	hsa-miR-1252	CLIP-seq
MIRT1332793	hsa-miR-1256	CLIP-seq
MIRT1332794	hsa-miR-1261	CLIP-seq
MIRT1332795	hsa-miR-1295	CLIP-seq
MIRT1332796	hsa-miR-129-5p	CLIP-seq
MIRT1332797	hsa-miR-1323	CLIP-seq
MIRT1332798	hsa-miR-137	CLIP-seq
MIRT1332799	hsa-miR-141	CLIP-seq
MIRT1332800	hsa-miR-142-5p	CLIP-seq
MIRT1332801	hsa-miR-148a	CLIP-seq
MIRT1332802	hsa-miR-148b	CLIP-seq
MIRT1332803	hsa-miR-149	CLIP-seq
MIRT1332804	hsa-miR-152	CLIP-seq
MIRT1332805	hsa-miR-200a	CLIP-seq
MIRT1332806	hsa-miR-200b	CLIP-seq
MIRT1332807	hsa-miR-200c	CLIP-seq
MIRT1332808	hsa-miR-2113	CLIP-seq
MIRT1332809	hsa-miR-2116	CLIP-seq
MIRT1332810	hsa-miR-219-5p	CLIP-seq
MIRT1332811	hsa-miR-221	CLIP-seq
MIRT1332812	hsa-miR-222	CLIP-seq
MIRT1332813	hsa-miR-23a	CLIP-seq
MIRT1332814	hsa-miR-23b	CLIP-seq
MIRT1332815	hsa-miR-23c	CLIP-seq
MIRT1332816	hsa-miR-302a	CLIP-seq
MIRT1332817	hsa-miR-302b	CLIP-seq
MIRT1332818	hsa-miR-302c	CLIP-seq
MIRT1332819	hsa-miR-302d	CLIP-seq
MIRT1332820	hsa-miR-302e	CLIP-seq
MIRT1332821	hsa-miR-3064-5p	CLIP-seq
MIRT1332822	hsa-miR-30a	CLIP-seq
MIRT1332823	hsa-miR-30b	CLIP-seq
MIRT1332824	hsa-miR-30c	CLIP-seq
MIRT1332825	hsa-miR-30d	CLIP-seq
MIRT1332826	hsa-miR-30e	CLIP-seq
MIRT1332827	hsa-miR-3119	CLIP-seq
MIRT1332828	hsa-miR-3121-3p	CLIP-seq
MIRT1332829	hsa-miR-3126-3p	CLIP-seq
MIRT1332830	hsa-miR-3142	CLIP-seq
MIRT1332831	hsa-miR-3145-3p	CLIP-seq
MIRT1332832	hsa-miR-3148	CLIP-seq
MIRT1332833	hsa-miR-3163	CLIP-seq
MIRT1332834	hsa-miR-3190	CLIP-seq
MIRT1332835	hsa-miR-3201	CLIP-seq
MIRT1332836	hsa-miR-330-3p	CLIP-seq
MIRT1332837	hsa-miR-340	CLIP-seq
MIRT1332838	hsa-miR-3609	CLIP-seq
MIRT1332839	hsa-miR-3613-3p	CLIP-seq
MIRT1332840	hsa-miR-3647-3p	CLIP-seq
MIRT1332841	hsa-miR-3671	CLIP-seq
MIRT1332842	hsa-miR-3675-3p	CLIP-seq
MIRT1332843	hsa-miR-3688-3p	CLIP-seq
MIRT1332844	hsa-miR-3692	CLIP-seq
MIRT1332845	hsa-miR-369-3p	CLIP-seq
MIRT1332846	hsa-miR-372	CLIP-seq
MIRT1332847	hsa-miR-373	CLIP-seq
MIRT1332848	hsa-miR-374a	CLIP-seq
MIRT1332849	hsa-miR-374b	CLIP-seq
MIRT1332850	hsa-miR-382	CLIP-seq
MIRT1332851	hsa-miR-3909	CLIP-seq
MIRT1332852	hsa-miR-410	CLIP-seq
MIRT1332853	hsa-miR-4252	CLIP-seq
MIRT1332854	hsa-miR-4273	CLIP-seq
MIRT1332855	hsa-miR-4276	CLIP-seq
MIRT1332856	hsa-miR-4289	CLIP-seq
MIRT1332857	hsa-miR-4318	CLIP-seq
MIRT1332858	hsa-miR-4445	CLIP-seq
MIRT1332859	hsa-miR-4495	CLIP-seq
MIRT1332860	hsa-miR-4503	CLIP-seq
MIRT1332861	hsa-miR-4511	CLIP-seq
MIRT1332862	hsa-miR-451b	CLIP-seq
MIRT1332863	hsa-miR-452	CLIP-seq
MIRT1332864	hsa-miR-4528	CLIP-seq
MIRT1332865	hsa-miR-4536	CLIP-seq
MIRT1332866	hsa-miR-4642	CLIP-seq
MIRT1332867	hsa-miR-4676-3p	CLIP-seq
MIRT1332868	hsa-miR-4677-5p	CLIP-seq
MIRT1332869	hsa-miR-4694-3p	CLIP-seq
MIRT1332870	hsa-miR-4717-3p	CLIP-seq
MIRT1332871	hsa-miR-4734	CLIP-seq
MIRT1332872	hsa-miR-4752	CLIP-seq
MIRT1332873	hsa-miR-4766-5p	CLIP-seq
MIRT1332874	hsa-miR-4777-5p	CLIP-seq
MIRT1332875	hsa-miR-4782-3p	CLIP-seq
MIRT1332876	hsa-miR-4789-3p	CLIP-seq
MIRT1332877	hsa-miR-4791	CLIP-seq
MIRT1332878	hsa-miR-4794	CLIP-seq
MIRT1332879	hsa-miR-4803	CLIP-seq
MIRT1332880	hsa-miR-495	CLIP-seq
MIRT1332881	hsa-miR-508-3p	CLIP-seq
MIRT1332882	hsa-miR-512-3p	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT1332884	hsa-miR-518d-5p	CLIP-seq
MIRT1332885	hsa-miR-519a	CLIP-seq
MIRT1332886	hsa-miR-519b-3p	CLIP-seq
MIRT1332887	hsa-miR-519b-5p	CLIP-seq
MIRT1332888	hsa-miR-519c-3p	CLIP-seq
MIRT1332889	hsa-miR-519c-5p	CLIP-seq
MIRT1332890	hsa-miR-520a-3p	CLIP-seq
MIRT1332891	hsa-miR-520b	CLIP-seq
MIRT1332892	hsa-miR-520c-3p	CLIP-seq
MIRT1332893	hsa-miR-520c-5p	CLIP-seq
MIRT1332894	hsa-miR-520d-3p	CLIP-seq
MIRT1332895	hsa-miR-520e	CLIP-seq
MIRT1332896	hsa-miR-522	CLIP-seq
MIRT1332897	hsa-miR-526a	CLIP-seq
MIRT1332898	hsa-miR-548a-3p	CLIP-seq
MIRT1332899	hsa-miR-548ac	CLIP-seq
MIRT1332900	hsa-miR-548ag	CLIP-seq
MIRT1332901	hsa-miR-548ah	CLIP-seq
MIRT1332902	hsa-miR-548ai	CLIP-seq
MIRT1332903	hsa-miR-548b-3p	CLIP-seq
MIRT1332904	hsa-miR-548d-3p	CLIP-seq
MIRT1332905	hsa-miR-548e	CLIP-seq
MIRT1332906	hsa-miR-548f	CLIP-seq
MIRT1332907	hsa-miR-548g	CLIP-seq
MIRT1332908	hsa-miR-548l	CLIP-seq
MIRT1332909	hsa-miR-548m	CLIP-seq
MIRT1332910	hsa-miR-548n	CLIP-seq
MIRT1332911	hsa-miR-548o	CLIP-seq
MIRT1332912	hsa-miR-548p	CLIP-seq
MIRT1332913	hsa-miR-548t	CLIP-seq
MIRT1332914	hsa-miR-548u	CLIP-seq
MIRT1332915	hsa-miR-548v	CLIP-seq
MIRT1332916	hsa-miR-548z	CLIP-seq
MIRT1332917	hsa-miR-577	CLIP-seq
MIRT1332918	hsa-miR-606	CLIP-seq
MIRT1332919	hsa-miR-607	CLIP-seq
MIRT1332920	hsa-miR-628-3p	CLIP-seq
MIRT1332921	hsa-miR-891b	CLIP-seq
MIRT1332796	hsa-miR-129-5p	CLIP-seq
MIRT1332811	hsa-miR-221	CLIP-seq
MIRT1332812	hsa-miR-222	CLIP-seq
MIRT1332859	hsa-miR-4495	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT1332900	hsa-miR-548ag	CLIP-seq
MIRT1332902	hsa-miR-548ai	CLIP-seq
MIRT1332909	hsa-miR-548m	CLIP-seq
MIRT1332910	hsa-miR-548n	CLIP-seq
MIRT1332913	hsa-miR-548t	CLIP-seq
MIRT1332915	hsa-miR-548v	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT1332789	hsa-miR-1207-3p	CLIP-seq
MIRT1332794	hsa-miR-1261	CLIP-seq
MIRT2098398	hsa-miR-1283	CLIP-seq
MIRT1332796	hsa-miR-129-5p	CLIP-seq
MIRT1332797	hsa-miR-1323	CLIP-seq
MIRT1332798	hsa-miR-137	CLIP-seq
MIRT1332803	hsa-miR-149	CLIP-seq
MIRT1332806	hsa-miR-200b	CLIP-seq
MIRT1332807	hsa-miR-200c	CLIP-seq
MIRT1332808	hsa-miR-2113	CLIP-seq
MIRT2098399	hsa-miR-217	CLIP-seq
MIRT1332813	hsa-miR-23a	CLIP-seq
MIRT1332814	hsa-miR-23b	CLIP-seq
MIRT1332815	hsa-miR-23c	CLIP-seq
MIRT1332821	hsa-miR-3064-5p	CLIP-seq
MIRT1332822	hsa-miR-30a	CLIP-seq
MIRT1332823	hsa-miR-30b	CLIP-seq
MIRT1332824	hsa-miR-30c	CLIP-seq
MIRT1332825	hsa-miR-30d	CLIP-seq
MIRT1332826	hsa-miR-30e	CLIP-seq
MIRT1332827	hsa-miR-3119	CLIP-seq
MIRT1332828	hsa-miR-3121-3p	CLIP-seq
MIRT2098400	hsa-miR-3124-3p	CLIP-seq
MIRT1332829	hsa-miR-3126-3p	CLIP-seq
MIRT1332831	hsa-miR-3145-3p	CLIP-seq
MIRT1332834	hsa-miR-3190	CLIP-seq
MIRT1332835	hsa-miR-3201	CLIP-seq
MIRT1332836	hsa-miR-330-3p	CLIP-seq
MIRT1332838	hsa-miR-3609	CLIP-seq
MIRT1332839	hsa-miR-3613-3p	CLIP-seq
MIRT1332842	hsa-miR-3675-3p	CLIP-seq
MIRT1332845	hsa-miR-369-3p	CLIP-seq
MIRT1332848	hsa-miR-374a	CLIP-seq
MIRT1332849	hsa-miR-374b	CLIP-seq
MIRT2098401	hsa-miR-374c	CLIP-seq
MIRT1332850	hsa-miR-382	CLIP-seq
MIRT1332851	hsa-miR-3909	CLIP-seq
MIRT1332852	hsa-miR-410	CLIP-seq
MIRT2098402	hsa-miR-4267	CLIP-seq
MIRT2098403	hsa-miR-4418	CLIP-seq
MIRT1332858	hsa-miR-4445	CLIP-seq
MIRT1332859	hsa-miR-4495	CLIP-seq
MIRT1332860	hsa-miR-4503	CLIP-seq
MIRT1332861	hsa-miR-4511	CLIP-seq
MIRT1332863	hsa-miR-452	CLIP-seq
MIRT1332864	hsa-miR-4528	CLIP-seq
MIRT1332867	hsa-miR-4676-3p	CLIP-seq
MIRT2098404	hsa-miR-4698	CLIP-seq
MIRT1332870	hsa-miR-4717-3p	CLIP-seq
MIRT2098405	hsa-miR-4719	CLIP-seq
MIRT1332871	hsa-miR-4734	CLIP-seq
MIRT1332872	hsa-miR-4752	CLIP-seq
MIRT2098406	hsa-miR-4781-3p	CLIP-seq
MIRT1332877	hsa-miR-4791	CLIP-seq
MIRT1332878	hsa-miR-4794	CLIP-seq
MIRT1332880	hsa-miR-495	CLIP-seq
MIRT2098407	hsa-miR-509-3-5p	CLIP-seq
MIRT2098408	hsa-miR-509-5p	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT2098409	hsa-miR-513b	CLIP-seq
MIRT2098410	hsa-miR-518a-5p	CLIP-seq
MIRT2098411	hsa-miR-527	CLIP-seq
MIRT1332898	hsa-miR-548a-3p	CLIP-seq
MIRT1332899	hsa-miR-548ac	CLIP-seq
MIRT1332900	hsa-miR-548ag	CLIP-seq
MIRT1332901	hsa-miR-548ah	CLIP-seq
MIRT1332902	hsa-miR-548ai	CLIP-seq
MIRT1332903	hsa-miR-548b-3p	CLIP-seq
MIRT1332904	hsa-miR-548d-3p	CLIP-seq
MIRT1332905	hsa-miR-548e	CLIP-seq
MIRT1332906	hsa-miR-548f	CLIP-seq
MIRT1332907	hsa-miR-548g	CLIP-seq
MIRT1332909	hsa-miR-548m	CLIP-seq
MIRT1332910	hsa-miR-548n	CLIP-seq
MIRT1332911	hsa-miR-548o	CLIP-seq
MIRT1332913	hsa-miR-548t	CLIP-seq
MIRT1332916	hsa-miR-548z	CLIP-seq
MIRT2098412	hsa-miR-587	CLIP-seq
MIRT2098413	hsa-miR-655	CLIP-seq
MIRT1332921	hsa-miR-891b	CLIP-seq
MIRT2323081	hsa-miR-103b	CLIP-seq
MIRT1332788	hsa-miR-1206	CLIP-seq
MIRT1332789	hsa-miR-1207-3p	CLIP-seq
MIRT1332790	hsa-miR-1227	CLIP-seq
MIRT2323082	hsa-miR-1244	CLIP-seq
MIRT1332791	hsa-miR-1245b-5p	CLIP-seq
MIRT1332792	hsa-miR-1252	CLIP-seq
MIRT1332793	hsa-miR-1256	CLIP-seq
MIRT1332794	hsa-miR-1261	CLIP-seq
MIRT2098398	hsa-miR-1283	CLIP-seq
MIRT1332795	hsa-miR-1295	CLIP-seq
MIRT1332796	hsa-miR-129-5p	CLIP-seq
MIRT1332797	hsa-miR-1323	CLIP-seq
MIRT1332798	hsa-miR-137	CLIP-seq
MIRT1332799	hsa-miR-141	CLIP-seq
MIRT1332801	hsa-miR-148a	CLIP-seq
MIRT1332802	hsa-miR-148b	CLIP-seq
MIRT1332803	hsa-miR-149	CLIP-seq
MIRT1332804	hsa-miR-152	CLIP-seq
MIRT2323083	hsa-miR-190	CLIP-seq
MIRT2323084	hsa-miR-190b	CLIP-seq
MIRT2323085	hsa-miR-193a-5p	CLIP-seq
MIRT1332805	hsa-miR-200a	CLIP-seq
MIRT1332806	hsa-miR-200b	CLIP-seq
MIRT1332807	hsa-miR-200c	CLIP-seq
MIRT1332808	hsa-miR-2113	CLIP-seq
MIRT1332809	hsa-miR-2116	CLIP-seq
MIRT2098399	hsa-miR-217	CLIP-seq
MIRT1332810	hsa-miR-219-5p	CLIP-seq
MIRT1332811	hsa-miR-221	CLIP-seq
MIRT1332812	hsa-miR-222	CLIP-seq
MIRT2323086	hsa-miR-2276	CLIP-seq
MIRT2323087	hsa-miR-2278	CLIP-seq
MIRT1332813	hsa-miR-23a	CLIP-seq
MIRT1332814	hsa-miR-23b	CLIP-seq
MIRT1332815	hsa-miR-23c	CLIP-seq
MIRT2323088	hsa-miR-299-5p	CLIP-seq
MIRT2323089	hsa-miR-29a	CLIP-seq
MIRT2323090	hsa-miR-29b	CLIP-seq
MIRT2323091	hsa-miR-29c	CLIP-seq
MIRT2323092	hsa-miR-300	CLIP-seq
MIRT1332821	hsa-miR-3064-5p	CLIP-seq
MIRT2323093	hsa-miR-3065-5p	CLIP-seq
MIRT2323094	hsa-miR-3074-3p	CLIP-seq
MIRT1332822	hsa-miR-30a	CLIP-seq
MIRT1332823	hsa-miR-30b	CLIP-seq
MIRT1332824	hsa-miR-30c	CLIP-seq
MIRT1332825	hsa-miR-30d	CLIP-seq
MIRT1332826	hsa-miR-30e	CLIP-seq
MIRT1332827	hsa-miR-3119	CLIP-seq
MIRT2323095	hsa-miR-3120-5p	CLIP-seq
MIRT1332828	hsa-miR-3121-3p	CLIP-seq
MIRT1332829	hsa-miR-3126-3p	CLIP-seq
MIRT1332830	hsa-miR-3142	CLIP-seq
MIRT2323096	hsa-miR-3143	CLIP-seq
MIRT1332831	hsa-miR-3145-3p	CLIP-seq
MIRT2323097	hsa-miR-3145-5p	CLIP-seq
MIRT1332832	hsa-miR-3148	CLIP-seq
MIRT1332834	hsa-miR-3190	CLIP-seq
MIRT1332835	hsa-miR-3201	CLIP-seq
MIRT1332836	hsa-miR-330-3p	CLIP-seq
MIRT2323098	hsa-miR-346	CLIP-seq
MIRT1332839	hsa-miR-3613-3p	CLIP-seq
MIRT2323099	hsa-miR-3662	CLIP-seq
MIRT1332841	hsa-miR-3671	CLIP-seq
MIRT1332842	hsa-miR-3675-3p	CLIP-seq
MIRT1332845	hsa-miR-369-3p	CLIP-seq
MIRT2323100	hsa-miR-371-5p	CLIP-seq
MIRT2323101	hsa-miR-371b-5p	CLIP-seq
MIRT1332848	hsa-miR-374a	CLIP-seq
MIRT1332849	hsa-miR-374b	CLIP-seq
MIRT2098401	hsa-miR-374c	CLIP-seq
MIRT2323102	hsa-miR-380	CLIP-seq
MIRT2323103	hsa-miR-381	CLIP-seq
MIRT1332850	hsa-miR-382	CLIP-seq
MIRT1332851	hsa-miR-3909	CLIP-seq
MIRT2323104	hsa-miR-3942-5p	CLIP-seq
MIRT2323105	hsa-miR-3976	CLIP-seq
MIRT1332852	hsa-miR-410	CLIP-seq
MIRT1332853	hsa-miR-4252	CLIP-seq
MIRT1332854	hsa-miR-4273	CLIP-seq
MIRT1332855	hsa-miR-4276	CLIP-seq
MIRT2323106	hsa-miR-4288	CLIP-seq
MIRT1332856	hsa-miR-4289	CLIP-seq
MIRT1332857	hsa-miR-4318	CLIP-seq
MIRT2098403	hsa-miR-4418	CLIP-seq
MIRT2323107	hsa-miR-4424	CLIP-seq
MIRT1332858	hsa-miR-4445	CLIP-seq
MIRT2323108	hsa-miR-4476	CLIP-seq
MIRT1332859	hsa-miR-4495	CLIP-seq
MIRT1332860	hsa-miR-4503	CLIP-seq
MIRT1332861	hsa-miR-4511	CLIP-seq
MIRT1332863	hsa-miR-452	CLIP-seq
MIRT1332864	hsa-miR-4528	CLIP-seq
MIRT2323109	hsa-miR-4533	CLIP-seq
MIRT1332865	hsa-miR-4536	CLIP-seq
MIRT1332866	hsa-miR-4642	CLIP-seq
MIRT2323110	hsa-miR-4666-3p	CLIP-seq
MIRT2323111	hsa-miR-4668-5p	CLIP-seq
MIRT1332867	hsa-miR-4676-3p	CLIP-seq
MIRT1332868	hsa-miR-4677-5p	CLIP-seq
MIRT2098404	hsa-miR-4698	CLIP-seq
MIRT2323112	hsa-miR-4703-5p	CLIP-seq
MIRT2323113	hsa-miR-4711-3p	CLIP-seq
MIRT1332870	hsa-miR-4717-3p	CLIP-seq
MIRT2323114	hsa-miR-4729	CLIP-seq
MIRT1332871	hsa-miR-4734	CLIP-seq
MIRT1332872	hsa-miR-4752	CLIP-seq
MIRT2323115	hsa-miR-4772-3p	CLIP-seq
MIRT1332874	hsa-miR-4777-5p	CLIP-seq
MIRT2323116	hsa-miR-4778-3p	CLIP-seq
MIRT2098406	hsa-miR-4781-3p	CLIP-seq
MIRT1332875	hsa-miR-4782-3p	CLIP-seq
MIRT1332877	hsa-miR-4791	CLIP-seq
MIRT1332878	hsa-miR-4794	CLIP-seq
MIRT2323117	hsa-miR-4795-3p	CLIP-seq
MIRT2323118	hsa-miR-487a	CLIP-seq
MIRT1332880	hsa-miR-495	CLIP-seq
MIRT1332881	hsa-miR-508-3p	CLIP-seq
MIRT2098407	hsa-miR-509-3-5p	CLIP-seq
MIRT2098408	hsa-miR-509-5p	CLIP-seq
MIRT2323119	hsa-miR-511	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT2098410	hsa-miR-518a-5p	CLIP-seq
MIRT1332884	hsa-miR-518d-5p	CLIP-seq
MIRT1332887	hsa-miR-519b-5p	CLIP-seq
MIRT1332889	hsa-miR-519c-5p	CLIP-seq
MIRT1332893	hsa-miR-520c-5p	CLIP-seq
MIRT1332897	hsa-miR-526a	CLIP-seq
MIRT2098411	hsa-miR-527	CLIP-seq
MIRT2323120	hsa-miR-543	CLIP-seq
MIRT1332898	hsa-miR-548a-3p	CLIP-seq
MIRT2323121	hsa-miR-548a-5p	CLIP-seq
MIRT2323122	hsa-miR-548aa	CLIP-seq
MIRT2323123	hsa-miR-548ab	CLIP-seq
MIRT1332899	hsa-miR-548ac	CLIP-seq
MIRT2323124	hsa-miR-548ak	CLIP-seq
MIRT1332903	hsa-miR-548b-3p	CLIP-seq
MIRT2323125	hsa-miR-548b-5p	CLIP-seq
MIRT2323126	hsa-miR-548c-5p	CLIP-seq
MIRT1332904	hsa-miR-548d-3p	CLIP-seq
MIRT2323127	hsa-miR-548d-5p	CLIP-seq
MIRT1332905	hsa-miR-548e	CLIP-seq
MIRT1332906	hsa-miR-548f	CLIP-seq
MIRT1332907	hsa-miR-548g	CLIP-seq
MIRT2323128	hsa-miR-548h	CLIP-seq
MIRT2323129	hsa-miR-548i	CLIP-seq
MIRT2323130	hsa-miR-548j	CLIP-seq
MIRT1332909	hsa-miR-548m	CLIP-seq
MIRT1332910	hsa-miR-548n	CLIP-seq
MIRT1332911	hsa-miR-548o	CLIP-seq
MIRT1332912	hsa-miR-548p	CLIP-seq
MIRT1332913	hsa-miR-548t	CLIP-seq
MIRT1332915	hsa-miR-548v	CLIP-seq
MIRT2323131	hsa-miR-548w	CLIP-seq
MIRT2323132	hsa-miR-548y	CLIP-seq
MIRT1332916	hsa-miR-548z	CLIP-seq
MIRT2323133	hsa-miR-559	CLIP-seq
MIRT2323134	hsa-miR-570	CLIP-seq
MIRT2098412	hsa-miR-587	CLIP-seq
MIRT2323135	hsa-miR-595	CLIP-seq
MIRT1332918	hsa-miR-606	CLIP-seq
MIRT1332919	hsa-miR-607	CLIP-seq
MIRT2323136	hsa-miR-632	CLIP-seq
MIRT2098413	hsa-miR-655	CLIP-seq
MIRT2323137	hsa-miR-656	CLIP-seq
MIRT2323138	hsa-miR-659	CLIP-seq
MIRT1332921	hsa-miR-891b	CLIP-seq
MIRT1332794	hsa-miR-1261	CLIP-seq
MIRT1332796	hsa-miR-129-5p	CLIP-seq
MIRT1332803	hsa-miR-149	CLIP-seq
MIRT1332813	hsa-miR-23a	CLIP-seq
MIRT1332814	hsa-miR-23b	CLIP-seq
MIRT1332815	hsa-miR-23c	CLIP-seq
MIRT1332821	hsa-miR-3064-5p	CLIP-seq
MIRT2323094	hsa-miR-3074-3p	CLIP-seq
MIRT1332831	hsa-miR-3145-3p	CLIP-seq
MIRT1332835	hsa-miR-3201	CLIP-seq
MIRT1332850	hsa-miR-382	CLIP-seq
MIRT1332851	hsa-miR-3909	CLIP-seq
MIRT1332877	hsa-miR-4791	CLIP-seq
MIRT1332878	hsa-miR-4794	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT1332898	hsa-miR-548a-3p	CLIP-seq
MIRT1332905	hsa-miR-548e	CLIP-seq
MIRT1332906	hsa-miR-548f	CLIP-seq
MIRT1332907	hsa-miR-548g	CLIP-seq
MIRT1332792	hsa-miR-1252	CLIP-seq
MIRT2098398	hsa-miR-1283	CLIP-seq
MIRT1332797	hsa-miR-1323	CLIP-seq
MIRT1332803	hsa-miR-149	CLIP-seq
MIRT2323083	hsa-miR-190	CLIP-seq
MIRT2323084	hsa-miR-190b	CLIP-seq
MIRT1332806	hsa-miR-200b	CLIP-seq
MIRT1332807	hsa-miR-200c	CLIP-seq
MIRT1332811	hsa-miR-221	CLIP-seq
MIRT1332812	hsa-miR-222	CLIP-seq
MIRT1332821	hsa-miR-3064-5p	CLIP-seq
MIRT1332822	hsa-miR-30a	CLIP-seq
MIRT1332823	hsa-miR-30b	CLIP-seq
MIRT1332824	hsa-miR-30c	CLIP-seq
MIRT1332825	hsa-miR-30d	CLIP-seq
MIRT1332826	hsa-miR-30e	CLIP-seq
MIRT1332827	hsa-miR-3119	CLIP-seq
MIRT1332828	hsa-miR-3121-3p	CLIP-seq
MIRT1332829	hsa-miR-3126-3p	CLIP-seq
MIRT1332832	hsa-miR-3148	CLIP-seq
MIRT1332833	hsa-miR-3163	CLIP-seq
MIRT1332836	hsa-miR-330-3p	CLIP-seq
MIRT1332838	hsa-miR-3609	CLIP-seq
MIRT1332839	hsa-miR-3613-3p	CLIP-seq
MIRT1332841	hsa-miR-3671	CLIP-seq
MIRT1332845	hsa-miR-369-3p	CLIP-seq
MIRT2323100	hsa-miR-371-5p	CLIP-seq
MIRT2323101	hsa-miR-371b-5p	CLIP-seq
MIRT1332848	hsa-miR-374a	CLIP-seq
MIRT1332849	hsa-miR-374b	CLIP-seq
MIRT2098401	hsa-miR-374c	CLIP-seq
MIRT2323102	hsa-miR-380	CLIP-seq
MIRT1332852	hsa-miR-410	CLIP-seq
MIRT2098402	hsa-miR-4267	CLIP-seq
MIRT1332856	hsa-miR-4289	CLIP-seq
MIRT2323108	hsa-miR-4476	CLIP-seq
MIRT1332859	hsa-miR-4495	CLIP-seq
MIRT1332860	hsa-miR-4503	CLIP-seq
MIRT1332861	hsa-miR-4511	CLIP-seq
MIRT1332863	hsa-miR-452	CLIP-seq
MIRT1332864	hsa-miR-4528	CLIP-seq
MIRT2323109	hsa-miR-4533	CLIP-seq
MIRT1332867	hsa-miR-4676-3p	CLIP-seq
MIRT2098404	hsa-miR-4698	CLIP-seq
MIRT2098405	hsa-miR-4719	CLIP-seq
MIRT2098406	hsa-miR-4781-3p	CLIP-seq
MIRT1332876	hsa-miR-4789-3p	CLIP-seq
MIRT1332878	hsa-miR-4794	CLIP-seq
MIRT1332880	hsa-miR-495	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT2098409	hsa-miR-513b	CLIP-seq
MIRT1332900	hsa-miR-548ag	CLIP-seq
MIRT1332901	hsa-miR-548ah	CLIP-seq
MIRT1332902	hsa-miR-548ai	CLIP-seq
MIRT1332903	hsa-miR-548b-3p	CLIP-seq
MIRT1332909	hsa-miR-548m	CLIP-seq
MIRT1332910	hsa-miR-548n	CLIP-seq
MIRT1332911	hsa-miR-548o	CLIP-seq
MIRT1332913	hsa-miR-548t	CLIP-seq
MIRT1332915	hsa-miR-548v	CLIP-seq
MIRT2098412	hsa-miR-587	CLIP-seq
MIRT2098413	hsa-miR-655	CLIP-seq
MIRT1332921	hsa-miR-891b	CLIP-seq
MIRT2323082	hsa-miR-1244	CLIP-seq
MIRT1332792	hsa-miR-1252	CLIP-seq
MIRT2618971	hsa-miR-1267	CLIP-seq
MIRT1332806	hsa-miR-200b	CLIP-seq
MIRT1332807	hsa-miR-200c	CLIP-seq
MIRT2098399	hsa-miR-217	CLIP-seq
MIRT2323087	hsa-miR-2278	CLIP-seq
MIRT2323088	hsa-miR-299-5p	CLIP-seq
MIRT2323093	hsa-miR-3065-5p	CLIP-seq
MIRT1332832	hsa-miR-3148	CLIP-seq
MIRT1332839	hsa-miR-3613-3p	CLIP-seq
MIRT2618972	hsa-miR-3646	CLIP-seq
MIRT2323099	hsa-miR-3662	CLIP-seq
MIRT1332843	hsa-miR-3688-3p	CLIP-seq
MIRT1332844	hsa-miR-3692	CLIP-seq
MIRT2098401	hsa-miR-374c	CLIP-seq
MIRT2323104	hsa-miR-3942-5p	CLIP-seq
MIRT2323105	hsa-miR-3976	CLIP-seq
MIRT2098403	hsa-miR-4418	CLIP-seq
MIRT2323111	hsa-miR-4668-5p	CLIP-seq
MIRT1332869	hsa-miR-4694-3p	CLIP-seq
MIRT2323112	hsa-miR-4703-5p	CLIP-seq
MIRT1332873	hsa-miR-4766-5p	CLIP-seq
MIRT2323116	hsa-miR-4778-3p	CLIP-seq
MIRT2323117	hsa-miR-4795-3p	CLIP-seq
MIRT2098407	hsa-miR-509-3-5p	CLIP-seq
MIRT2098408	hsa-miR-509-5p	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT2098410	hsa-miR-518a-5p	CLIP-seq
MIRT1332896	hsa-miR-522	CLIP-seq
MIRT2098411	hsa-miR-527	CLIP-seq
MIRT2323122	hsa-miR-548aa	CLIP-seq
MIRT2323134	hsa-miR-570	CLIP-seq
MIRT1332917	hsa-miR-577	CLIP-seq
MIRT2098413	hsa-miR-655	CLIP-seq
MIRT2323137	hsa-miR-656	CLIP-seq
MIRT2323138	hsa-miR-659	CLIP-seq
MIRT2323082	hsa-miR-1244	CLIP-seq
MIRT1332792	hsa-miR-1252	CLIP-seq
MIRT2618971	hsa-miR-1267	CLIP-seq
MIRT1332806	hsa-miR-200b	CLIP-seq
MIRT1332807	hsa-miR-200c	CLIP-seq
MIRT2098399	hsa-miR-217	CLIP-seq
MIRT2323087	hsa-miR-2278	CLIP-seq
MIRT2323088	hsa-miR-299-5p	CLIP-seq
MIRT2323093	hsa-miR-3065-5p	CLIP-seq
MIRT1332832	hsa-miR-3148	CLIP-seq
MIRT1332839	hsa-miR-3613-3p	CLIP-seq
MIRT2618972	hsa-miR-3646	CLIP-seq
MIRT2323099	hsa-miR-3662	CLIP-seq
MIRT1332843	hsa-miR-3688-3p	CLIP-seq
MIRT1332844	hsa-miR-3692	CLIP-seq
MIRT2098401	hsa-miR-374c	CLIP-seq
MIRT2323104	hsa-miR-3942-5p	CLIP-seq
MIRT2323105	hsa-miR-3976	CLIP-seq
MIRT2098403	hsa-miR-4418	CLIP-seq
MIRT2323111	hsa-miR-4668-5p	CLIP-seq
MIRT1332869	hsa-miR-4694-3p	CLIP-seq
MIRT2323112	hsa-miR-4703-5p	CLIP-seq
MIRT1332873	hsa-miR-4766-5p	CLIP-seq
MIRT2323117	hsa-miR-4795-3p	CLIP-seq
MIRT2098407	hsa-miR-509-3-5p	CLIP-seq
MIRT2098408	hsa-miR-509-5p	CLIP-seq
MIRT1332883	hsa-miR-513a-3p	CLIP-seq
MIRT2098410	hsa-miR-518a-5p	CLIP-seq
MIRT1332896	hsa-miR-522	CLIP-seq
MIRT2098411	hsa-miR-527	CLIP-seq
MIRT2323122	hsa-miR-548aa	CLIP-seq
MIRT2323134	hsa-miR-570	CLIP-seq
MIRT1332917	hsa-miR-577	CLIP-seq
MIRT2098413	hsa-miR-655	CLIP-seq
MIRT2323137	hsa-miR-656	CLIP-seq
MIRT2323138	hsa-miR-659	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005096	Function	GTPase activator activity	IBA
GO:0005515	Function	Protein binding	IPI	10075675, 16091426, 17499046, 18692470, 18843296, 20946353, 27018634, 27551091, 28442536, 31806350, 32296183, 32814053, 33961781, 34349020, 34504087, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA	8898360
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0008270	Function	Zinc ion binding	IDA	18843296
GO:0008270	Function	Zinc ion binding	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	IGI	8898360
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030127	Component	COPII vesicle coat	IBA
GO:0030127	Component	COPII vesicle coat	IDA	17499046
GO:0030127	Component	COPII vesicle coat	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070971	Component	Endoplasmic reticulum exit site	IBA
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	8898360, 28442536
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090110	Process	COPII-coated vesicle cargo loading	IBA
GO:0090110	Process	COPII-coated vesicle cargo loading	IDA	17499046, 18843296
GO:0090110	Process	COPII-coated vesicle cargo loading	IGI	8898360
GO:0090114	Process	COPII-coated vesicle budding	IEA

Other IDs

• MIM: 610511
• HGNC: 10701
• e!Ensembl: ENSG00000100934

Protein

• UniProt ID: Q15436
• Protein name: Protein transport protein Sec23A (hSec23A) (SEC23-related protein A)
• Protein function: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicle
• PDB: 2NUP, 2NUT, 2YRC, 2YRD, 3EFO, 3EG9, 3EGD, 3EGX, 5KYN, 5KYU, 5KYW, 5KYX, 5KYY, 5VNE, 5VNF, 5VNG, 5VNH, 5VNI, 5VNJ, 5VNK, 5VNL, 5VNM, 5VNN, 5VNO, 8HR0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04810	zf-Sec23_Sec24	58 → 98	Sec23/Sec24 zinc finger	Domain
  PF04811	Sec23_trunk	126 → 390	Sec23/Sec24 trunk domain	Domain
  PF08033	Sec23_BS	401 → 504	Sec23/Sec24 beta-sandwich domain	Domain
  PF04815	Sec23_helical	518 → 617	Sec23/Sec24 helical domain	Domain
  PF00626	Gelsolin	629 → 718	Gelsolin repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8898360}.
• Sequence:

  MTTYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPVAALFTPLKERPDLPPIQYEPVL
  CSRTTCRAVLNPLCQVDYRAKLWACNFCYQRNQFPPSYAGISELNQPAELLPQFSSIEYV
  VLRGPQMPLIFLYVVDTCMEDEDLQALKESMQMSLSLLPPTALVGLITFGRMVQVHELGC
  EGISKSYVFRGTKDLSAKQLQEMLGLSKVPLTQATRGPQVQQPPPSNRFLQPVQKIDMNL
  TDLLGELQRDPWPVPQGKRPLRSSGVALSIAVGLLECTFPNTGARIMMFIGGPATQGPGM
  VVGDELKTPIRSWHDIDKDNAKYVKKGTKHFEALANRAATTGHVIDIYACALDQTGLLEM
  KCCPNLTGGYMVMGDSFNTSLFKQTFQRVFTKDMHGQFKMGFGGTLEIKTSREIKISGAI
  GPCVSLNSKGPCVSENEIGTGGTCQWKICGLSPTTTLAIYFEVVNQHNAPIPQGGRGAIQ
  FVTQYQHSSGQRRIRVTTIARNWADAQTQIQNIAASFDQEAAAILMARLAIYRAETEEGP
  DVLRWLDRQLIRLCQKFGEYHKDDPSSFRFSETFSLYPQFMFHLRRSSFLQVFNNSPDES
  SYYRHHFMRQDLTQSLIMIQPILYAYSFSGPPEPVLLDSSSILADRILLMDTFFQILIYH
  GETIAQWRKSGYQDMPEYENFRHLLQAPVDDAQEILHSRFPMPRYIDTEHGGSQARFLLS
  KVNPSQTHNNMYAWGQESGAPILTDDVSLQVFMDHLKKLAVSSAA

• Sequence length: 765

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

COPII-mediated vesicle transport
MHC class II antigen presentation
Cargo concentration in the ER
Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Craniolenticulosutural dysplasia	Pathogenic; Likely pathogenic	rs118204000, rs2139193533, rs755443033	RCV000001287 RCV002248409 RCV001197517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	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 urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEC23A-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	30065114	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35720397	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29343764	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	21593139	Inhibit	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25683121		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27495250		★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	30065114		★☆☆☆☆ Found in Text Mining only
Craniolenticulosutural Dysplasia	Craniolenticulosutural Dysplasia	UNIPROT_DG	16980979		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniolenticulosutural Dysplasia	Craniolenticulosutural Dysplasia	GENOMICS_ENGLAND_DG	16980979		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniolenticulosutural Dysplasia	Craniolenticulosutural Dysplasia	ORPHANET_DG	16980979		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniolenticulosutural dysplasia	Craniolenticulosutural Dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniolenticulosutural Dysplasia	Craniolenticulosutural Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniolenticulosutural Dysplasia	Craniolenticulosutural Dysplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	30301603		★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	27036030		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	34580982	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37828500	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35720397	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27832783		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30301603		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27036030		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30301603		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37356089	Associate	★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27495250, 30301603		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25342854	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21593139, 27832783		★☆☆☆☆ Found in Text Mining only
Punctate cataract	Punctate cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37670384	Associate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sutural cataract	Sutural cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	27036030	Associate	★☆☆☆☆ Found in Text Mining only