SLC12A2 (solute carrier family 12 member 2)

Gene

• Entrez ID: 6558
• Gene name: Solute carrier family 12 member 2
• Gene symbol: SLC12A2
• Synonyms (NCBI Gene): BSC, BSC-2, BSC2, CCC1, KILQS, NKCC1, PPP1R141, hNKCC1
• Chromosome: 5
• Chromosome location: 5q23.3
• Summary: The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA dam

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886040968	GTCTGGTGGCT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001417	hsa-miR-16-5p	pSILAC	18668040
MIRT028509	hsa-miR-30a-5p	Proteomics	18668040
MIRT001417	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT051865	hsa-let-7c-5p	CLASH	23622248
MIRT545472	hsa-miR-8485	HITS-CLIP	21572407
MIRT545471	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT545470	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT545469	hsa-miR-603	HITS-CLIP	21572407
MIRT545468	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545467	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545466	hsa-miR-6504-3p	HITS-CLIP	21572407
MIRT545465	hsa-miR-4719	HITS-CLIP	21572407
MIRT545464	hsa-miR-3941	HITS-CLIP	21572407
MIRT545463	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545462	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT545472	hsa-miR-8485	PAR-CLIP	21572407
MIRT545471	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545470	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545469	hsa-miR-603	PAR-CLIP	21572407
MIRT545468	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545467	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545466	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545465	hsa-miR-4719	PAR-CLIP	21572407
MIRT545464	hsa-miR-3941	PAR-CLIP	21572407
MIRT545463	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545462	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545472	hsa-miR-8485	PAR-CLIP	21572407
MIRT545471	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545470	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545469	hsa-miR-603	PAR-CLIP	21572407
MIRT545468	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545467	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545466	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545465	hsa-miR-4719	PAR-CLIP	21572407
MIRT545464	hsa-miR-3941	PAR-CLIP	21572407
MIRT545463	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545462	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545472	hsa-miR-8485	HITS-CLIP	21572407
MIRT545471	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT545470	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT545469	hsa-miR-603	HITS-CLIP	21572407
MIRT545468	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545467	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545466	hsa-miR-6504-3p	HITS-CLIP	21572407
MIRT545465	hsa-miR-4719	HITS-CLIP	21572407
MIRT545464	hsa-miR-3941	HITS-CLIP	21572407
MIRT545463	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545462	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT545472	hsa-miR-8485	PAR-CLIP	21572407
MIRT545471	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545470	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545469	hsa-miR-603	PAR-CLIP	21572407
MIRT545468	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545467	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545466	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545465	hsa-miR-4719	PAR-CLIP	21572407
MIRT545464	hsa-miR-3941	PAR-CLIP	21572407
MIRT545463	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545462	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545472	hsa-miR-8485	PAR-CLIP	21572407
MIRT545471	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545470	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545469	hsa-miR-603	PAR-CLIP	21572407
MIRT545468	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545467	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545466	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545465	hsa-miR-4719	PAR-CLIP	21572407
MIRT545464	hsa-miR-3941	PAR-CLIP	21572407
MIRT545463	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545462	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT1351888	hsa-miR-101	CLIP-seq
MIRT1351889	hsa-miR-105	CLIP-seq
MIRT1351890	hsa-miR-106a	CLIP-seq
MIRT1351891	hsa-miR-106b	CLIP-seq
MIRT1351892	hsa-miR-10a	CLIP-seq
MIRT1351893	hsa-miR-10b	CLIP-seq
MIRT1351894	hsa-miR-1253	CLIP-seq
MIRT1351895	hsa-miR-1324	CLIP-seq
MIRT1351896	hsa-miR-137	CLIP-seq
MIRT1351897	hsa-miR-144	CLIP-seq
MIRT1351898	hsa-miR-15a	CLIP-seq
MIRT1351899	hsa-miR-15b	CLIP-seq
MIRT1351900	hsa-miR-16	CLIP-seq
MIRT1351901	hsa-miR-17	CLIP-seq
MIRT1351902	hsa-miR-1910	CLIP-seq
MIRT1351903	hsa-miR-195	CLIP-seq
MIRT1351904	hsa-miR-20a	CLIP-seq
MIRT1351905	hsa-miR-20b	CLIP-seq
MIRT1351906	hsa-miR-25	CLIP-seq
MIRT1351907	hsa-miR-27a	CLIP-seq
MIRT1351908	hsa-miR-27b	CLIP-seq
MIRT1351909	hsa-miR-28-3p	CLIP-seq
MIRT1351910	hsa-miR-3150a-5p	CLIP-seq
MIRT1351911	hsa-miR-3150b-5p	CLIP-seq
MIRT1351912	hsa-miR-3160-5p	CLIP-seq
MIRT1351913	hsa-miR-3163	CLIP-seq
MIRT1351914	hsa-miR-3190	CLIP-seq
MIRT1351915	hsa-miR-32	CLIP-seq
MIRT1351916	hsa-miR-330-3p	CLIP-seq
MIRT1351917	hsa-miR-339-5p	CLIP-seq
MIRT1351918	hsa-miR-340	CLIP-seq
MIRT1351919	hsa-miR-3609	CLIP-seq
MIRT1351920	hsa-miR-363	CLIP-seq
MIRT1351921	hsa-miR-367	CLIP-seq
MIRT1351922	hsa-miR-3671	CLIP-seq
MIRT1351923	hsa-miR-3682-5p	CLIP-seq
MIRT1351924	hsa-miR-3688-3p	CLIP-seq
MIRT1351925	hsa-miR-3919	CLIP-seq
MIRT1351926	hsa-miR-421	CLIP-seq
MIRT1351927	hsa-miR-424	CLIP-seq
MIRT1351928	hsa-miR-4264	CLIP-seq
MIRT1351929	hsa-miR-4277	CLIP-seq
MIRT1351930	hsa-miR-4282	CLIP-seq
MIRT1351931	hsa-miR-4421	CLIP-seq
MIRT1351932	hsa-miR-4436b-5p	CLIP-seq
MIRT1351933	hsa-miR-4493	CLIP-seq
MIRT1351934	hsa-miR-4524	CLIP-seq
MIRT1351935	hsa-miR-455-3p	CLIP-seq
MIRT1351936	hsa-miR-4645-3p	CLIP-seq
MIRT1351937	hsa-miR-4659a-5p	CLIP-seq
MIRT1351938	hsa-miR-4659b-5p	CLIP-seq
MIRT1351939	hsa-miR-4662a-3p	CLIP-seq
MIRT1351940	hsa-miR-4662a-5p	CLIP-seq
MIRT1351941	hsa-miR-4684-5p	CLIP-seq
MIRT1351942	hsa-miR-4698	CLIP-seq
MIRT1351943	hsa-miR-4709-5p	CLIP-seq
MIRT1351944	hsa-miR-4755-3p	CLIP-seq
MIRT1351945	hsa-miR-4761-5p	CLIP-seq
MIRT1351946	hsa-miR-4778-5p	CLIP-seq
MIRT1351947	hsa-miR-4796-3p	CLIP-seq
MIRT1351948	hsa-miR-489	CLIP-seq
MIRT1351949	hsa-miR-497	CLIP-seq
MIRT1351950	hsa-miR-498	CLIP-seq
MIRT1351951	hsa-miR-501-3p	CLIP-seq
MIRT1351952	hsa-miR-502-3p	CLIP-seq
MIRT1351953	hsa-miR-503	CLIP-seq
MIRT1351954	hsa-miR-513a-5p	CLIP-seq
MIRT1351955	hsa-miR-514	CLIP-seq
MIRT1351956	hsa-miR-514b-3p	CLIP-seq
MIRT1351957	hsa-miR-519d	CLIP-seq
MIRT1351958	hsa-miR-520d-5p	CLIP-seq
MIRT1351959	hsa-miR-524-5p	CLIP-seq
MIRT1351960	hsa-miR-548aa	CLIP-seq
MIRT1351961	hsa-miR-548ac	CLIP-seq
MIRT1351962	hsa-miR-548ae	CLIP-seq
MIRT1351963	hsa-miR-548ah	CLIP-seq
MIRT1351964	hsa-miR-548aj	CLIP-seq
MIRT1351965	hsa-miR-548am	CLIP-seq
MIRT1351966	hsa-miR-548d-3p	CLIP-seq
MIRT1351967	hsa-miR-548x	CLIP-seq
MIRT1351968	hsa-miR-548z	CLIP-seq
MIRT1351969	hsa-miR-556-3p	CLIP-seq
MIRT1351970	hsa-miR-561	CLIP-seq
MIRT1351971	hsa-miR-570	CLIP-seq
MIRT1351972	hsa-miR-579	CLIP-seq
MIRT1351973	hsa-miR-582-5p	CLIP-seq
MIRT1351974	hsa-miR-583	CLIP-seq
MIRT1351975	hsa-miR-590-3p	CLIP-seq
MIRT1351976	hsa-miR-593	CLIP-seq
MIRT1351977	hsa-miR-607	CLIP-seq
MIRT1351978	hsa-miR-646	CLIP-seq
MIRT1351979	hsa-miR-656	CLIP-seq
MIRT1351980	hsa-miR-7	CLIP-seq
MIRT1351981	hsa-miR-888	CLIP-seq
MIRT1351982	hsa-miR-889	CLIP-seq
MIRT1351983	hsa-miR-92a	CLIP-seq
MIRT1351984	hsa-miR-92b	CLIP-seq
MIRT1351985	hsa-miR-93	CLIP-seq
MIRT1351986	hsa-miR-944	CLIP-seq
MIRT2104287	hsa-miR-100	CLIP-seq
MIRT1351892	hsa-miR-10a	CLIP-seq
MIRT1351893	hsa-miR-10b	CLIP-seq
MIRT2104288	hsa-miR-1297	CLIP-seq
MIRT2104289	hsa-miR-136	CLIP-seq
MIRT1351896	hsa-miR-137	CLIP-seq
MIRT2104290	hsa-miR-142-5p	CLIP-seq
MIRT1351897	hsa-miR-144	CLIP-seq
MIRT2104291	hsa-miR-2053	CLIP-seq
MIRT2104292	hsa-miR-2114	CLIP-seq
MIRT2104293	hsa-miR-26a	CLIP-seq
MIRT2104294	hsa-miR-26b	CLIP-seq
MIRT1351910	hsa-miR-3150a-5p	CLIP-seq
MIRT1351911	hsa-miR-3150b-5p	CLIP-seq
MIRT1351917	hsa-miR-339-5p	CLIP-seq
MIRT1351918	hsa-miR-340	CLIP-seq
MIRT2104295	hsa-miR-3929	CLIP-seq
MIRT2104296	hsa-miR-4419b	CLIP-seq
MIRT1351931	hsa-miR-4421	CLIP-seq
MIRT2104297	hsa-miR-4465	CLIP-seq
MIRT2104298	hsa-miR-4478	CLIP-seq
MIRT2104299	hsa-miR-4484	CLIP-seq
MIRT2104300	hsa-miR-4495	CLIP-seq
MIRT1351934	hsa-miR-4524	CLIP-seq
MIRT1351936	hsa-miR-4645-3p	CLIP-seq
MIRT2104301	hsa-miR-4649-3p	CLIP-seq
MIRT1351941	hsa-miR-4684-5p	CLIP-seq
MIRT2104302	hsa-miR-485-5p	CLIP-seq
MIRT1351958	hsa-miR-520d-5p	CLIP-seq
MIRT1351959	hsa-miR-524-5p	CLIP-seq
MIRT2104303	hsa-miR-548an	CLIP-seq
MIRT2104304	hsa-miR-548p	CLIP-seq
MIRT1351969	hsa-miR-556-3p	CLIP-seq
MIRT1351976	hsa-miR-593	CLIP-seq
MIRT2104305	hsa-miR-659	CLIP-seq
MIRT1351986	hsa-miR-944	CLIP-seq
MIRT2104306	hsa-miR-99a	CLIP-seq
MIRT2104307	hsa-miR-99b	CLIP-seq
MIRT1351888	hsa-miR-101	CLIP-seq
MIRT1351889	hsa-miR-105	CLIP-seq
MIRT2328534	hsa-miR-1200	CLIP-seq
MIRT2328535	hsa-miR-1238	CLIP-seq
MIRT2328536	hsa-miR-124	CLIP-seq
MIRT2328537	hsa-miR-1271	CLIP-seq
MIRT2328538	hsa-miR-1284	CLIP-seq
MIRT2104288	hsa-miR-1297	CLIP-seq
MIRT2328539	hsa-miR-1299	CLIP-seq
MIRT2328540	hsa-miR-1321	CLIP-seq
MIRT1351896	hsa-miR-137	CLIP-seq
MIRT1351897	hsa-miR-144	CLIP-seq
MIRT2328541	hsa-miR-147	CLIP-seq
MIRT1351898	hsa-miR-15a	CLIP-seq
MIRT1351899	hsa-miR-15b	CLIP-seq
MIRT1351900	hsa-miR-16	CLIP-seq
MIRT2328542	hsa-miR-182	CLIP-seq
MIRT2328543	hsa-miR-1827	CLIP-seq
MIRT1351902	hsa-miR-1910	CLIP-seq
MIRT1351903	hsa-miR-195	CLIP-seq
MIRT2104291	hsa-miR-2053	CLIP-seq
MIRT2104292	hsa-miR-2114	CLIP-seq
MIRT2328544	hsa-miR-219-2-3p	CLIP-seq
MIRT1351906	hsa-miR-25	CLIP-seq
MIRT2104293	hsa-miR-26a	CLIP-seq
MIRT2104294	hsa-miR-26b	CLIP-seq
MIRT2328545	hsa-miR-3074-5p	CLIP-seq
MIRT2328546	hsa-miR-3119	CLIP-seq
MIRT2328547	hsa-miR-3120-3p	CLIP-seq
MIRT2328548	hsa-miR-3140-5p	CLIP-seq
MIRT2328549	hsa-miR-3144-3p	CLIP-seq
MIRT2328550	hsa-miR-3150a-3p	CLIP-seq
MIRT1351910	hsa-miR-3150a-5p	CLIP-seq
MIRT1351911	hsa-miR-3150b-5p	CLIP-seq
MIRT2328551	hsa-miR-3157-3p	CLIP-seq
MIRT2328552	hsa-miR-3162-5p	CLIP-seq
MIRT2328553	hsa-miR-3165	CLIP-seq
MIRT2328554	hsa-miR-3175	CLIP-seq
MIRT2328555	hsa-miR-3192	CLIP-seq
MIRT2328556	hsa-miR-3197	CLIP-seq
MIRT1351915	hsa-miR-32	CLIP-seq
MIRT2328557	hsa-miR-326	CLIP-seq
MIRT1351916	hsa-miR-330-3p	CLIP-seq
MIRT2328558	hsa-miR-330-5p	CLIP-seq
MIRT2328559	hsa-miR-335	CLIP-seq
MIRT2328560	hsa-miR-3545-3p	CLIP-seq
MIRT2328561	hsa-miR-361-5p	CLIP-seq
MIRT2328562	hsa-miR-3622a-5p	CLIP-seq
MIRT1351920	hsa-miR-363	CLIP-seq
MIRT2328563	hsa-miR-3647-3p	CLIP-seq
MIRT2328564	hsa-miR-3656	CLIP-seq
MIRT1351921	hsa-miR-367	CLIP-seq
MIRT1351922	hsa-miR-3671	CLIP-seq
MIRT2328565	hsa-miR-3675-3p	CLIP-seq
MIRT2328566	hsa-miR-3689a-3p	CLIP-seq
MIRT2328567	hsa-miR-3689c	CLIP-seq
MIRT2328568	hsa-miR-3689d	CLIP-seq
MIRT2328569	hsa-miR-3922-5p	CLIP-seq
MIRT2104295	hsa-miR-3929	CLIP-seq
MIRT2328570	hsa-miR-3942-3p	CLIP-seq
MIRT2328571	hsa-miR-409-3p	CLIP-seq
MIRT1351927	hsa-miR-424	CLIP-seq
MIRT1351928	hsa-miR-4264	CLIP-seq
MIRT2328572	hsa-miR-4289	CLIP-seq
MIRT2328573	hsa-miR-4314	CLIP-seq
MIRT2104296	hsa-miR-4419b	CLIP-seq
MIRT2328574	hsa-miR-4422	CLIP-seq
MIRT2328575	hsa-miR-4423-3p	CLIP-seq
MIRT1351932	hsa-miR-4436b-5p	CLIP-seq
MIRT2328576	hsa-miR-4446-3p	CLIP-seq
MIRT2328577	hsa-miR-4457	CLIP-seq
MIRT2104297	hsa-miR-4465	CLIP-seq
MIRT2104298	hsa-miR-4478	CLIP-seq
MIRT2328578	hsa-miR-4494	CLIP-seq
MIRT2328579	hsa-miR-4504	CLIP-seq
MIRT1351934	hsa-miR-4524	CLIP-seq
MIRT1351935	hsa-miR-455-3p	CLIP-seq
MIRT2328580	hsa-miR-4642	CLIP-seq
MIRT2328581	hsa-miR-4646-5p	CLIP-seq
MIRT2104301	hsa-miR-4649-3p	CLIP-seq
MIRT2328582	hsa-miR-4661-5p	CLIP-seq
MIRT1351939	hsa-miR-4662a-3p	CLIP-seq
MIRT2328583	hsa-miR-4667-5p	CLIP-seq
MIRT2328584	hsa-miR-4675	CLIP-seq
MIRT2328585	hsa-miR-4691-5p	CLIP-seq
MIRT1351942	hsa-miR-4698	CLIP-seq
MIRT2328586	hsa-miR-4699-5p	CLIP-seq
MIRT2328587	hsa-miR-4700-5p	CLIP-seq
MIRT2328588	hsa-miR-4704-5p	CLIP-seq
MIRT2328589	hsa-miR-4709-3p	CLIP-seq
MIRT2328590	hsa-miR-4721	CLIP-seq
MIRT2328591	hsa-miR-4722-5p	CLIP-seq
MIRT2328592	hsa-miR-4728-5p	CLIP-seq
MIRT2328593	hsa-miR-4739	CLIP-seq
MIRT2328594	hsa-miR-4741	CLIP-seq
MIRT2328595	hsa-miR-4756-5p	CLIP-seq
MIRT2328596	hsa-miR-4768-3p	CLIP-seq
MIRT2328597	hsa-miR-4775	CLIP-seq
MIRT2328598	hsa-miR-4782-5p	CLIP-seq
MIRT2328599	hsa-miR-4789-3p	CLIP-seq
MIRT2328600	hsa-miR-4799-5p	CLIP-seq
MIRT2104302	hsa-miR-485-5p	CLIP-seq
MIRT2328601	hsa-miR-486-5p	CLIP-seq
MIRT2328602	hsa-miR-495	CLIP-seq
MIRT1351949	hsa-miR-497	CLIP-seq
MIRT1351950	hsa-miR-498	CLIP-seq
MIRT2328603	hsa-miR-499a-5p	CLIP-seq
MIRT1351953	hsa-miR-503	CLIP-seq
MIRT2328604	hsa-miR-506	CLIP-seq
MIRT2328605	hsa-miR-513a-3p	CLIP-seq
MIRT2328606	hsa-miR-513b	CLIP-seq
MIRT2328607	hsa-miR-516b	CLIP-seq
MIRT1351958	hsa-miR-520d-5p	CLIP-seq
MIRT1351959	hsa-miR-524-5p	CLIP-seq
MIRT2328608	hsa-miR-542-3p	CLIP-seq
MIRT2328609	hsa-miR-548c-3p	CLIP-seq
MIRT2328610	hsa-miR-569	CLIP-seq
MIRT1351973	hsa-miR-582-5p	CLIP-seq
MIRT2328611	hsa-miR-592	CLIP-seq
MIRT2328612	hsa-miR-597	CLIP-seq
MIRT2328613	hsa-miR-599	CLIP-seq
MIRT1351977	hsa-miR-607	CLIP-seq
MIRT2328614	hsa-miR-616	CLIP-seq
MIRT2328615	hsa-miR-621	CLIP-seq
MIRT2328616	hsa-miR-624	CLIP-seq
MIRT1351978	hsa-miR-646	CLIP-seq
MIRT2328617	hsa-miR-653	CLIP-seq
MIRT1351979	hsa-miR-656	CLIP-seq
MIRT2104305	hsa-miR-659	CLIP-seq
MIRT2328618	hsa-miR-875-5p	CLIP-seq
MIRT1351981	hsa-miR-888	CLIP-seq
MIRT1351983	hsa-miR-92a	CLIP-seq
MIRT1351984	hsa-miR-92b	CLIP-seq
MIRT2328619	hsa-miR-938	CLIP-seq
MIRT2328620	hsa-miR-939	CLIP-seq
MIRT2328621	hsa-miR-940	CLIP-seq
MIRT2328622	hsa-miR-96	CLIP-seq
MIRT1351888	hsa-miR-101	CLIP-seq
MIRT1351889	hsa-miR-105	CLIP-seq
MIRT1351897	hsa-miR-144	CLIP-seq
MIRT2328560	hsa-miR-3545-3p	CLIP-seq
MIRT1351937	hsa-miR-4659a-5p	CLIP-seq
MIRT1351938	hsa-miR-4659b-5p	CLIP-seq
MIRT1351981	hsa-miR-888	CLIP-seq
MIRT2459456	hsa-miR-371b-5p	CLIP-seq
MIRT1351933	hsa-miR-4493	CLIP-seq
MIRT1351941	hsa-miR-4684-5p	CLIP-seq
MIRT1351942	hsa-miR-4698	CLIP-seq
MIRT1351961	hsa-miR-548ac	CLIP-seq
MIRT1351962	hsa-miR-548ae	CLIP-seq
MIRT1351964	hsa-miR-548aj	CLIP-seq
MIRT1351965	hsa-miR-548am	CLIP-seq
MIRT1351966	hsa-miR-548d-3p	CLIP-seq
MIRT1351967	hsa-miR-548x	CLIP-seq
MIRT1351968	hsa-miR-548z	CLIP-seq
MIRT1351976	hsa-miR-593	CLIP-seq
MIRT1351981	hsa-miR-888	CLIP-seq
MIRT2104287	hsa-miR-100	CLIP-seq
MIRT1351888	hsa-miR-101	CLIP-seq
MIRT1351889	hsa-miR-105	CLIP-seq
MIRT1351892	hsa-miR-10a	CLIP-seq
MIRT1351893	hsa-miR-10b	CLIP-seq
MIRT2328534	hsa-miR-1200	CLIP-seq
MIRT2328537	hsa-miR-1271	CLIP-seq
MIRT2623102	hsa-miR-1285	CLIP-seq
MIRT2328540	hsa-miR-1321	CLIP-seq
MIRT1351897	hsa-miR-144	CLIP-seq
MIRT2328542	hsa-miR-182	CLIP-seq
MIRT2328543	hsa-miR-1827	CLIP-seq
MIRT2104292	hsa-miR-2114	CLIP-seq
MIRT2328545	hsa-miR-3074-5p	CLIP-seq
MIRT2328548	hsa-miR-3140-5p	CLIP-seq
MIRT2623103	hsa-miR-3148	CLIP-seq
MIRT2328550	hsa-miR-3150a-3p	CLIP-seq
MIRT2623104	hsa-miR-3153	CLIP-seq
MIRT2328552	hsa-miR-3162-5p	CLIP-seq
MIRT2328553	hsa-miR-3165	CLIP-seq
MIRT2328554	hsa-miR-3175	CLIP-seq
MIRT2623105	hsa-miR-3187-5p	CLIP-seq
MIRT2328555	hsa-miR-3192	CLIP-seq
MIRT2328556	hsa-miR-3197	CLIP-seq
MIRT2623106	hsa-miR-320a	CLIP-seq
MIRT2623107	hsa-miR-320b	CLIP-seq
MIRT2623108	hsa-miR-320c	CLIP-seq
MIRT2623109	hsa-miR-320d	CLIP-seq
MIRT2328557	hsa-miR-326	CLIP-seq
MIRT2328558	hsa-miR-330-5p	CLIP-seq
MIRT2328559	hsa-miR-335	CLIP-seq
MIRT1351917	hsa-miR-339-5p	CLIP-seq
MIRT2328560	hsa-miR-3545-3p	CLIP-seq
MIRT2623110	hsa-miR-3622b-5p	CLIP-seq
MIRT2328563	hsa-miR-3647-3p	CLIP-seq
MIRT2328564	hsa-miR-3656	CLIP-seq
MIRT2328566	hsa-miR-3689a-3p	CLIP-seq
MIRT2328567	hsa-miR-3689c	CLIP-seq
MIRT2328568	hsa-miR-3689d	CLIP-seq
MIRT2459456	hsa-miR-371b-5p	CLIP-seq
MIRT2623111	hsa-miR-380	CLIP-seq
MIRT2104295	hsa-miR-3929	CLIP-seq
MIRT2328570	hsa-miR-3942-3p	CLIP-seq
MIRT2623112	hsa-miR-3945	CLIP-seq
MIRT2623113	hsa-miR-3974	CLIP-seq
MIRT2328571	hsa-miR-409-3p	CLIP-seq
MIRT2623114	hsa-miR-4253	CLIP-seq
MIRT1351930	hsa-miR-4282	CLIP-seq
MIRT2623115	hsa-miR-4291	CLIP-seq
MIRT2623116	hsa-miR-4310	CLIP-seq
MIRT2328573	hsa-miR-4314	CLIP-seq
MIRT2623117	hsa-miR-433	CLIP-seq
MIRT2104296	hsa-miR-4419b	CLIP-seq
MIRT1351931	hsa-miR-4421	CLIP-seq
MIRT2623118	hsa-miR-4429	CLIP-seq
MIRT2328577	hsa-miR-4457	CLIP-seq
MIRT2104298	hsa-miR-4478	CLIP-seq
MIRT2328578	hsa-miR-4494	CLIP-seq
MIRT2104300	hsa-miR-4495	CLIP-seq
MIRT1351934	hsa-miR-4524	CLIP-seq
MIRT2328580	hsa-miR-4642	CLIP-seq
MIRT2328581	hsa-miR-4646-5p	CLIP-seq
MIRT2104301	hsa-miR-4649-3p	CLIP-seq
MIRT1351937	hsa-miR-4659a-5p	CLIP-seq
MIRT1351938	hsa-miR-4659b-5p	CLIP-seq
MIRT1351940	hsa-miR-4662a-5p	CLIP-seq
MIRT2328583	hsa-miR-4667-5p	CLIP-seq
MIRT2623119	hsa-miR-4668-5p	CLIP-seq
MIRT1351941	hsa-miR-4684-5p	CLIP-seq
MIRT1351942	hsa-miR-4698	CLIP-seq
MIRT2328587	hsa-miR-4700-5p	CLIP-seq
MIRT2328591	hsa-miR-4722-5p	CLIP-seq
MIRT2328592	hsa-miR-4728-5p	CLIP-seq
MIRT2328593	hsa-miR-4739	CLIP-seq
MIRT2328595	hsa-miR-4756-5p	CLIP-seq
MIRT2328596	hsa-miR-4768-3p	CLIP-seq
MIRT2623120	hsa-miR-4790-3p	CLIP-seq
MIRT2623121	hsa-miR-4796-5p	CLIP-seq
MIRT2104302	hsa-miR-485-5p	CLIP-seq
MIRT2328601	hsa-miR-486-5p	CLIP-seq
MIRT2328603	hsa-miR-499a-5p	CLIP-seq
MIRT2328606	hsa-miR-513b	CLIP-seq
MIRT1351960	hsa-miR-548aa	CLIP-seq
MIRT1351962	hsa-miR-548ae	CLIP-seq
MIRT1351964	hsa-miR-548aj	CLIP-seq
MIRT1351965	hsa-miR-548am	CLIP-seq
MIRT2328609	hsa-miR-548c-3p	CLIP-seq
MIRT1351967	hsa-miR-548x	CLIP-seq
MIRT1351971	hsa-miR-570	CLIP-seq
MIRT2623122	hsa-miR-576-3p	CLIP-seq
MIRT1351973	hsa-miR-582-5p	CLIP-seq
MIRT2623123	hsa-miR-587	CLIP-seq
MIRT1351976	hsa-miR-593	CLIP-seq
MIRT2623124	hsa-miR-612	CLIP-seq
MIRT2328616	hsa-miR-624	CLIP-seq
MIRT1351979	hsa-miR-656	CLIP-seq
MIRT2104305	hsa-miR-659	CLIP-seq
MIRT1351981	hsa-miR-888	CLIP-seq
MIRT2328620	hsa-miR-939	CLIP-seq
MIRT2328621	hsa-miR-940	CLIP-seq
MIRT1351986	hsa-miR-944	CLIP-seq
MIRT2328622	hsa-miR-96	CLIP-seq
MIRT2104306	hsa-miR-99a	CLIP-seq
MIRT2104307	hsa-miR-99b	CLIP-seq
MIRT2104287	hsa-miR-100	CLIP-seq
MIRT1351888	hsa-miR-101	CLIP-seq
MIRT1351889	hsa-miR-105	CLIP-seq
MIRT1351892	hsa-miR-10a	CLIP-seq
MIRT1351893	hsa-miR-10b	CLIP-seq
MIRT2328534	hsa-miR-1200	CLIP-seq
MIRT2328537	hsa-miR-1271	CLIP-seq
MIRT2623102	hsa-miR-1285	CLIP-seq
MIRT2328540	hsa-miR-1321	CLIP-seq
MIRT1351897	hsa-miR-144	CLIP-seq
MIRT2328542	hsa-miR-182	CLIP-seq
MIRT2328543	hsa-miR-1827	CLIP-seq
MIRT2104292	hsa-miR-2114	CLIP-seq
MIRT2328545	hsa-miR-3074-5p	CLIP-seq
MIRT2328548	hsa-miR-3140-5p	CLIP-seq
MIRT2623103	hsa-miR-3148	CLIP-seq
MIRT2328550	hsa-miR-3150a-3p	CLIP-seq
MIRT2623104	hsa-miR-3153	CLIP-seq
MIRT2328552	hsa-miR-3162-5p	CLIP-seq
MIRT2328553	hsa-miR-3165	CLIP-seq
MIRT2328554	hsa-miR-3175	CLIP-seq
MIRT2623105	hsa-miR-3187-5p	CLIP-seq
MIRT2328555	hsa-miR-3192	CLIP-seq
MIRT2328556	hsa-miR-3197	CLIP-seq
MIRT2328557	hsa-miR-326	CLIP-seq
MIRT2328558	hsa-miR-330-5p	CLIP-seq
MIRT2328559	hsa-miR-335	CLIP-seq
MIRT1351917	hsa-miR-339-5p	CLIP-seq
MIRT2328560	hsa-miR-3545-3p	CLIP-seq
MIRT2623110	hsa-miR-3622b-5p	CLIP-seq
MIRT2328563	hsa-miR-3647-3p	CLIP-seq
MIRT2328564	hsa-miR-3656	CLIP-seq
MIRT2328566	hsa-miR-3689a-3p	CLIP-seq
MIRT2328567	hsa-miR-3689c	CLIP-seq
MIRT2328568	hsa-miR-3689d	CLIP-seq
MIRT2459456	hsa-miR-371b-5p	CLIP-seq
MIRT2104295	hsa-miR-3929	CLIP-seq
MIRT2328570	hsa-miR-3942-3p	CLIP-seq
MIRT2623112	hsa-miR-3945	CLIP-seq
MIRT2623113	hsa-miR-3974	CLIP-seq
MIRT2328571	hsa-miR-409-3p	CLIP-seq
MIRT2623114	hsa-miR-4253	CLIP-seq
MIRT1351930	hsa-miR-4282	CLIP-seq
MIRT2623115	hsa-miR-4291	CLIP-seq
MIRT2623116	hsa-miR-4310	CLIP-seq
MIRT2328573	hsa-miR-4314	CLIP-seq
MIRT2623117	hsa-miR-433	CLIP-seq
MIRT2104296	hsa-miR-4419b	CLIP-seq
MIRT1351931	hsa-miR-4421	CLIP-seq
MIRT2328577	hsa-miR-4457	CLIP-seq
MIRT2104298	hsa-miR-4478	CLIP-seq
MIRT2328578	hsa-miR-4494	CLIP-seq
MIRT1351934	hsa-miR-4524	CLIP-seq
MIRT2328580	hsa-miR-4642	CLIP-seq
MIRT2328581	hsa-miR-4646-5p	CLIP-seq
MIRT2104301	hsa-miR-4649-3p	CLIP-seq
MIRT1351937	hsa-miR-4659a-5p	CLIP-seq
MIRT1351938	hsa-miR-4659b-5p	CLIP-seq
MIRT1351940	hsa-miR-4662a-5p	CLIP-seq
MIRT2328583	hsa-miR-4667-5p	CLIP-seq
MIRT2623119	hsa-miR-4668-5p	CLIP-seq
MIRT1351941	hsa-miR-4684-5p	CLIP-seq
MIRT1351942	hsa-miR-4698	CLIP-seq
MIRT2328587	hsa-miR-4700-5p	CLIP-seq
MIRT2328591	hsa-miR-4722-5p	CLIP-seq
MIRT2328592	hsa-miR-4728-5p	CLIP-seq
MIRT2328593	hsa-miR-4739	CLIP-seq
MIRT2328595	hsa-miR-4756-5p	CLIP-seq
MIRT2328596	hsa-miR-4768-3p	CLIP-seq
MIRT2623120	hsa-miR-4790-3p	CLIP-seq
MIRT2623121	hsa-miR-4796-5p	CLIP-seq
MIRT2104302	hsa-miR-485-5p	CLIP-seq
MIRT2328601	hsa-miR-486-5p	CLIP-seq
MIRT2328603	hsa-miR-499a-5p	CLIP-seq
MIRT2328606	hsa-miR-513b	CLIP-seq
MIRT1351962	hsa-miR-548ae	CLIP-seq
MIRT1351964	hsa-miR-548aj	CLIP-seq
MIRT1351965	hsa-miR-548am	CLIP-seq
MIRT2328609	hsa-miR-548c-3p	CLIP-seq
MIRT1351967	hsa-miR-548x	CLIP-seq
MIRT2623122	hsa-miR-576-3p	CLIP-seq
MIRT1351973	hsa-miR-582-5p	CLIP-seq
MIRT1351976	hsa-miR-593	CLIP-seq
MIRT2623124	hsa-miR-612	CLIP-seq
MIRT2328616	hsa-miR-624	CLIP-seq
MIRT1351979	hsa-miR-656	CLIP-seq
MIRT2104305	hsa-miR-659	CLIP-seq
MIRT1351981	hsa-miR-888	CLIP-seq
MIRT2328620	hsa-miR-939	CLIP-seq
MIRT2328621	hsa-miR-940	CLIP-seq
MIRT1351986	hsa-miR-944	CLIP-seq
MIRT2328622	hsa-miR-96	CLIP-seq
MIRT2104306	hsa-miR-99a	CLIP-seq
MIRT2104307	hsa-miR-99b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17721439, 22570591, 24555568
GO:0005886	Component	Plasma membrane	IDA	7629105
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7629105
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	ISS
GO:0006884	Process	Cell volume homeostasis	IBA
GO:0006884	Process	Cell volume homeostasis	ISS
GO:0006884	Process	Cell volume homeostasis	ISS
GO:0006884	Process	Cell volume homeostasis	TAS	27782176
GO:0006972	Process	Hyperosmotic response	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS	16227993
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IBA
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IDA	33597714
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IEA
GO:0008511	Function	Sodium:potassium:chloride symporter activity	TAS	7629105
GO:0008519	Function	Ammonium channel activity	IBA
GO:0008519	Function	Ammonium channel activity	IDA	12946942, 18032481
GO:0009925	Component	Basal plasma membrane	IDA	17478539
GO:0010818	Process	T cell chemotaxis	IMP	27400149
GO:0015079	Function	Potassium ion transmembrane transporter activity	ISS
GO:0015293	Function	Symporter activity	IEA
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IDA	7629105
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	RCA	7629105
GO:0016020	Component	Membrane	TAS	7629105
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	TAS	7629105
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	17478539
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	17478539
GO:0019901	Function	Protein kinase binding	IPI	12740379, 16669787
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	ISS
GO:0030321	Process	Transepithelial chloride transport	IDA	12946942
GO:0030644	Process	Intracellular chloride ion homeostasis	ISS
GO:0030644	Process	Intracellular chloride ion homeostasis	TAS	16227993
GO:0030659	Component	Cytoplasmic vesicle membrane	IDA	17478539
GO:0031253	Component	Cell projection membrane	TAS	11940529
GO:0035633	Process	Maintenance of blood-brain barrier	ISS
GO:0035633	Process	Maintenance of blood-brain barrier	TAS	27782176
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035865	Process	Cellular response to potassium ion	ISS
GO:0042995	Component	Cell projection	ISS
GO:0043005	Component	Neuron projection	IDA	16227993
GO:0043025	Component	Neuronal cell body	IDA	16227993
GO:0043025	Component	Neuronal cell body	ISS
GO:0044297	Component	Cell body	ISS
GO:0044298	Component	Cell body membrane	TAS	11940529
GO:0045795	Process	Positive regulation of cell volume	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IDA	7629105, 15347682
GO:0051087	Function	Protein-folding chaperone binding	IPI	15347682
GO:0051879	Function	Hsp90 protein binding	IPI	15347682
GO:0055064	Process	Chloride ion homeostasis	IBA
GO:0055075	Process	Potassium ion homeostasis	IBA
GO:0055078	Process	Sodium ion homeostasis	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0061044	Process	Negative regulation of vascular wound healing	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337
GO:0070634	Process	Transepithelial ammonium transport	IDA	18032481
GO:0071944	Component	Cell periphery	IDA	16227993
GO:0071944	Component	Cell periphery	ISS	15347682
GO:0072488	Process	Ammonium transmembrane transport	IBA
GO:0072488	Process	Ammonium transmembrane transport	IDA	12946942, 18032481
GO:0098658	Process	Inorganic anion import across plasma membrane	ISS
GO:0098659	Process	Inorganic cation import across plasma membrane	IDA	7629105, 15347682
GO:0098719	Process	Sodium ion import across plasma membrane	ISS
GO:0150003	Process	Regulation of spontaneous synaptic transmission	IEA
GO:0150003	Process	Regulation of spontaneous synaptic transmission	ISS	16227993
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	ISS
GO:1902476	Process	Chloride transmembrane transport	NAS	16227993
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904450	Process	Positive regulation of aspartate secretion	ISS
GO:1904464	Process	Regulation of matrix metallopeptidase secretion	ISS
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	ISS
GO:1990869	Process	Cellular response to chemokine	IMP	27400149

Other IDs

• MIM: 600840
• HGNC: 10911
• e!Ensembl: ENSG00000064651

Protein

• UniProt ID: P55011
• Protein name: Solute carrier family 12 member 2 (Basolateral Na-K-Cl symporter) (Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2) (BSC2) (Na-K-2Cl cotransporter 1) (hNKCC1)
• Protein function: Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:33597714, PubMed:35585053, PubMed:36239040, PubMed
• PDB: 6PZT, 7D10, 7MXO, 7N3N, 7S1X, 7S1Y, 7S1Z, 7SFL, 7SMP, 7ZGO, 8STE, 9C0E, 9C0G, 9C0H
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08403	AA_permease_N	202 → 267	Amino acid permease N-terminal	Family
  PF00324	AA_permease	290 → 793	Amino acid permease	Family
  PF03522	SLC12	801 → 1212	Solute carrier family 12	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many tissues. {ECO:0000269|PubMed:7629105}.
• Sequence:

  MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEG
  PAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADG
  EASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLS
  EGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLR
  PSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIW
  GVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSL
  GPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHSILMIDEINDIRIIGAITVVIL
  LGISVAGMEWEAKAQIVLLVILLLAIGDFVIGTFIPLESKKPKGFFGYKSEIFNENFGPD
  FREEETFFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSV
  GSCVVRDATGNVNDTIVTELTNCTSAACKLNFDFSSCESSPCSYGLMNNFQVMSMVSGFT
  PLISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFL
  IALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAKSPGWRPAFKYYNMWISLLGA
  ILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGV
  EDHVKNFRPQCLVMTGAPNSRPALLHLVHDFTKNVGLMICGHVHMGPRRQAMKEMSIDQA
  KYQRWLIKNKMKAFYAPVHADDLREGAQYLMQAAGLGRMKPNTLVLGFKKDWLQADMRDV
  DMYINLFHDAFDIQYGVVVIRLKEGLDISHLQGQEELLSSQEKSPGTKDVVVSVEYSKKS
  DLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVADQKLLEASTQFQKKQG
  KNTIDVWWLFDDGGLTLLIPYLLTTKKKWKDCKIRVFIGGKINRIDHDRRAMATLLSKFR
  IDFSDIMVLGDINTKPKKENIIAFEEIIEPYRLHEDDKEQDIADKMKEDEPWRITDNELE
  LYKTKTYRQIRLNELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDLPPILLV
  RGNHQSVLTFYS

• Sequence length: 1212

Pathways

KEGG:

Salivary secretion
Pancreatic secretion
Vibrio cholerae infection

Reactome:

Cation-coupled Chloride cotransporters

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
Delpire-McNeill syndrome	Likely pathogenic; Pathogenic	rs2479439728, rs1761279419, rs1763249655, rs116621105, rs1759998554	RCV002282781 RCV001264773 RCV001264774 RCV001264775 RCV001264776	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss	Pathogenic	rs1581138934, rs1581138944, rs1581138932	RCV000991284 RCV000991281 RCV000991282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal dominant 78	Pathogenic	rs1581138934, rs1581138944, rs1581138932, rs1763563407	RCV001264771 RCV001264768 RCV001264769 RCV001264772	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infant onset multiple organ failure	Likely pathogenic	rs886040968	RCV000258036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kilquist syndrome	Pathogenic; Likely pathogenic	rs2479456601, rs1326445668, rs1762258987, rs1762648450	RCV003988778 RCV003990061 RCV001264766 RCV001264767	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound global developmental delay	Likely pathogenic	rs1762648883	RCV001328480	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs1581138965	RCV001249186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC12A2-related disorder	Likely pathogenic; Pathogenic	rs2479357233, rs2479356950	RCV003230945 RCV004550844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOID TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 78	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LYMPHATIC SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	20461409		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26559081		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26559081		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20838240		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	BEFREE	20471979		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	BEFREE	16669787		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11544191		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	11544191	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28291262, 28641949, 29317612		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29483603, 30746473		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	18550034		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	27748541		★☆☆☆☆ Found in Text Mining only
Bartter syndrome, type 3	Bartter syndrome	BEFREE	12920401		★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral vestibulopathy	Pubtator	32658972	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21635237, 22570591, 28679472		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24555568, 28679472	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	15135928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	28964752		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20061948, 26960329, 31817665		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32658972	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28417963		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	35968893	Associate	★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	16227993, 27586142		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29374777		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29374777	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	12355171		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10634929		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	10634929	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30740830, 35248088	Associate	★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	29859070	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25529063		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32658972	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34635127	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16709666, 21635237, 27088517, 29925377, 30201259, 30224811		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	18550034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	31241262	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Benign Psychomotor, Childhood	Epilepsy	CTD_human_DG	19674083		★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	18550034		★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	CTD_human_DG	19674083		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16709666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	CTD_human_DG	19674083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	30306542		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	21658447		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24944475	Associate	★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	15135928		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	21256718		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	22447678	Stimulate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29703945		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	30740830, 35968893	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	35968893	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22570591, 28679472, 29431617, 30159893, 31026613		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28679472	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22570591, 28679472, 29431617, 30159893, 31026613		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17320059, 21813709, 24555568, 25009229	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22570591, 30159893		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30740830	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	30740830, 34226616, 35248088	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing Loss Sensorineural	Hearing loss	Pubtator	32658972	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28417963		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29382760		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	28692063		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	36893755	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	17259435		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	20061948, 25035152, 27798271, 28679951, 30862257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	31068771		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29502291		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	30306542		★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	BEFREE	27798271		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32658972	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Obstruction	Intestinal obstruction	Pubtator	35968893	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30629699, 30862257		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	30759289		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30828081		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12054469		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29029515, 31131974		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	26818759		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	20336356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28679472		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30159893		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	20461409		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25529063		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28818303		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	10975303		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CTD_human_DG	15135928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple System Atrophy	Multiple system atrophy	Pubtator	27900370	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21635237, 22570591, 26559081, 30159893		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20336356, 31068771		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26559081		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39953608	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	30575064		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34635127	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	12355171		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	12355171		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	16669787		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	PSYGENET_DG	22385968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28439270, 30102895		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	23894354, 31796123		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	23894354, 31796123	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20819979, 21237234, 21795557, 22643131, 23921125, 24695712, 31068771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20819979, 22385968, 22643131, 24695712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24695712	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28242161		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	18076645	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26559081		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24944475		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30254585		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17052386	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	22447678	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	30306542		★☆☆☆☆ Found in Text Mining only
Uncinate Epilepsy	Epilepsy	CTD_human_DG	19674083		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	GWASCAT_DG	30566020, 30998689		★☆☆☆☆ Found in Text Mining only