SLC22A5 (solute carrier family 22 member 5)

Gene

• Entrez ID: 6584
• Gene name: Solute carrier family 22 member 5
• Gene symbol: SLC22A5
• Synonyms (NCBI Gene): CDSP, OCTN2
• Chromosome: 5
• Chromosome location: 5q31.1
• Summary: Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma int

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11568514	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs28383481	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs60376624	C>G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs68018207	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72552727	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant, intron variant
rs72552732	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72552734	G>A	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72552735	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs114269482	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908886	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121908887	->A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs121908888	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, initiator codon variant, non coding transcript variant
rs121908889	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs121908890	C>T	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs121908891	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs121908893	C>A,T	Benign, pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs144547521	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs145068530	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, initiator codon variant, non coding transcript variant
rs151231558	G>A,T	Pathogenic, pathogenic-likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, intron variant
rs185551386	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200125400	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs200290813	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs267607053	GC>AT	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs267607054	C>T	Pathogenic-likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs377724489	A>C,T	Pathogenic	Intron variant, splice acceptor variant
rs386134194	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs386134195	TG>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs386134199	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs386134200	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant, missense variant
rs386134201	A>C	Likely-pathogenic	Splice acceptor variant
rs386134204	T>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386134209	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386134210	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386134212	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs386134215	TGC>-	Likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, coding sequence variant, inframe deletion
rs386134217	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386134218	A>G	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386134221	C>A,G	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs386134222	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs386134223	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386134224	G>A	Likely-pathogenic	Splice acceptor variant
rs386134225	->ACAC	Pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs747592919	G>C	Likely-pathogenic	Splice acceptor variant
rs747821417	G>A	Likely-pathogenic, uncertain-significance	5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs749282641	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs761090705	C>-,CC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs763224132	C>A,G,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs766398620	G>C	Likely-pathogenic	Splice acceptor variant
rs775097754	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs777004046	A>C,G	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs781330134	->T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs796052033	T>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs796052040	->ACAGAAAAAC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878853248	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878853249	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041277	G>A	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs886041967	CA>TC	Pathogenic	Intron variant, splice acceptor variant
rs896634334	->GGGCTT	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant, inframe insertion, coding sequence variant
rs927950152	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs1057516402	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516765	C>G	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1057516805	G>C	Likely-pathogenic	Splice acceptor variant
rs1057517106	G>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1057517306	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057518297	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057519051	T>G	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1064793269	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1178584184	C>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs1554087461	->TATGGCCATCAGGTTGGAG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554087491	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554087719	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554087913	A>G	Likely-pathogenic	Splice acceptor variant
rs1554087949	G>T	Likely-pathogenic	Splice donor variant
rs1554088165	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1554088200	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1554088578	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561566541	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs1580888136	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1580892239	T>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1580892402	A>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1580894230	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002618	hsa-miR-124-3p	Microarray	15685193
MIRT019378	hsa-miR-148b-3p	Microarray	17612493
MIRT021427	hsa-miR-9-5p	Microarray	17612493
MIRT002618	hsa-miR-124-3p	Microarray	18668037
MIRT002618	hsa-miR-124-3p	Microarray	15685193
MIRT1354533	hsa-miR-1231	CLIP-seq
MIRT1354534	hsa-miR-1238	CLIP-seq
MIRT1354535	hsa-miR-1243	CLIP-seq
MIRT1354536	hsa-miR-1253	CLIP-seq
MIRT1354537	hsa-miR-1258	CLIP-seq
MIRT1354538	hsa-miR-1275	CLIP-seq
MIRT1354539	hsa-miR-1296	CLIP-seq
MIRT1354540	hsa-miR-2054	CLIP-seq
MIRT1354541	hsa-miR-2110	CLIP-seq
MIRT1354542	hsa-miR-3117-3p	CLIP-seq
MIRT1354543	hsa-miR-3124-3p	CLIP-seq
MIRT1354544	hsa-miR-3148	CLIP-seq
MIRT1354545	hsa-miR-3153	CLIP-seq
MIRT1354546	hsa-miR-3169	CLIP-seq
MIRT1354547	hsa-miR-3173-3p	CLIP-seq
MIRT1354548	hsa-miR-3654	CLIP-seq
MIRT1354549	hsa-miR-3659	CLIP-seq
MIRT1354550	hsa-miR-3668	CLIP-seq
MIRT1354551	hsa-miR-3692	CLIP-seq
MIRT1354552	hsa-miR-382	CLIP-seq
MIRT1354553	hsa-miR-3907	CLIP-seq
MIRT1354554	hsa-miR-3921	CLIP-seq
MIRT1354555	hsa-miR-3936	CLIP-seq
MIRT1354556	hsa-miR-4271	CLIP-seq
MIRT1354557	hsa-miR-4275	CLIP-seq
MIRT1354558	hsa-miR-4287	CLIP-seq
MIRT1354559	hsa-miR-4288	CLIP-seq
MIRT1354560	hsa-miR-4289	CLIP-seq
MIRT1354561	hsa-miR-4311	CLIP-seq
MIRT1354562	hsa-miR-4328	CLIP-seq
MIRT1354563	hsa-miR-4447	CLIP-seq
MIRT1354564	hsa-miR-4469	CLIP-seq
MIRT1354565	hsa-miR-4472	CLIP-seq
MIRT1354566	hsa-miR-4481	CLIP-seq
MIRT1354567	hsa-miR-4512	CLIP-seq
MIRT1354568	hsa-miR-4519	CLIP-seq
MIRT1354569	hsa-miR-4525	CLIP-seq
MIRT1354570	hsa-miR-4641	CLIP-seq
MIRT1354571	hsa-miR-4651	CLIP-seq
MIRT1354572	hsa-miR-4652-5p	CLIP-seq
MIRT1354573	hsa-miR-4653-5p	CLIP-seq
MIRT1354574	hsa-miR-4658	CLIP-seq
MIRT1354575	hsa-miR-4665-5p	CLIP-seq
MIRT1354576	hsa-miR-4670-3p	CLIP-seq
MIRT1354577	hsa-miR-4682	CLIP-seq
MIRT1354578	hsa-miR-4685-3p	CLIP-seq
MIRT1354579	hsa-miR-4713-5p	CLIP-seq
MIRT1354580	hsa-miR-4723-5p	CLIP-seq
MIRT1354581	hsa-miR-4724-5p	CLIP-seq
MIRT1354582	hsa-miR-4725-3p	CLIP-seq
MIRT1354583	hsa-miR-4745-5p	CLIP-seq
MIRT1354584	hsa-miR-4759	CLIP-seq
MIRT1354585	hsa-miR-491-5p	CLIP-seq
MIRT1354586	hsa-miR-570	CLIP-seq
MIRT1354587	hsa-miR-574-5p	CLIP-seq
MIRT1354588	hsa-miR-608	CLIP-seq
MIRT1354589	hsa-miR-625	CLIP-seq
MIRT1354590	hsa-miR-632	CLIP-seq
MIRT1354591	hsa-miR-633	CLIP-seq
MIRT1354592	hsa-miR-665	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT2104885	hsa-miR-1245b-3p	CLIP-seq
MIRT2104886	hsa-miR-1245b-5p	CLIP-seq
MIRT2104887	hsa-miR-1254	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104891	hsa-miR-1825	CLIP-seq
MIRT2104892	hsa-miR-199a-3p	CLIP-seq
MIRT2104893	hsa-miR-199b-3p	CLIP-seq
MIRT2104894	hsa-miR-302a	CLIP-seq
MIRT2104895	hsa-miR-302b	CLIP-seq
MIRT2104896	hsa-miR-302c	CLIP-seq
MIRT2104897	hsa-miR-302d	CLIP-seq
MIRT2104898	hsa-miR-302e	CLIP-seq
MIRT2104899	hsa-miR-30a	CLIP-seq
MIRT2104900	hsa-miR-30b	CLIP-seq
MIRT2104901	hsa-miR-30c	CLIP-seq
MIRT2104902	hsa-miR-30d	CLIP-seq
MIRT2104903	hsa-miR-30e	CLIP-seq
MIRT2104904	hsa-miR-3116	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2104907	hsa-miR-3129-5p	CLIP-seq
MIRT2104908	hsa-miR-3142	CLIP-seq
MIRT1354544	hsa-miR-3148	CLIP-seq
MIRT2104909	hsa-miR-3158-3p	CLIP-seq
MIRT2104910	hsa-miR-3690	CLIP-seq
MIRT1354551	hsa-miR-3692	CLIP-seq
MIRT2104911	hsa-miR-372	CLIP-seq
MIRT2104912	hsa-miR-373	CLIP-seq
MIRT2104913	hsa-miR-383	CLIP-seq
MIRT2104914	hsa-miR-3914	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2104916	hsa-miR-3975	CLIP-seq
MIRT1354556	hsa-miR-4271	CLIP-seq
MIRT2104917	hsa-miR-4446-3p	CLIP-seq
MIRT2104918	hsa-miR-4459	CLIP-seq
MIRT2104919	hsa-miR-4490	CLIP-seq
MIRT2104920	hsa-miR-4492	CLIP-seq
MIRT2104921	hsa-miR-4495	CLIP-seq
MIRT2104922	hsa-miR-4498	CLIP-seq
MIRT1354568	hsa-miR-4519	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104924	hsa-miR-4521	CLIP-seq
MIRT2104925	hsa-miR-4638-3p	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2104927	hsa-miR-4695-5p	CLIP-seq
MIRT2104928	hsa-miR-4719	CLIP-seq
MIRT1354582	hsa-miR-4725-3p	CLIP-seq
MIRT2104929	hsa-miR-4753-5p	CLIP-seq
MIRT2104930	hsa-miR-4772-5p	CLIP-seq
MIRT2104931	hsa-miR-4795-3p	CLIP-seq
MIRT2104932	hsa-miR-510	CLIP-seq
MIRT2104933	hsa-miR-512-5p	CLIP-seq
MIRT2104934	hsa-miR-513b	CLIP-seq
MIRT2104935	hsa-miR-519a	CLIP-seq
MIRT2104936	hsa-miR-519b-3p	CLIP-seq
MIRT2104937	hsa-miR-519c-3p	CLIP-seq
MIRT2104938	hsa-miR-520a-3p	CLIP-seq
MIRT2104939	hsa-miR-520b	CLIP-seq
MIRT2104940	hsa-miR-520c-3p	CLIP-seq
MIRT2104941	hsa-miR-520d-3p	CLIP-seq
MIRT2104942	hsa-miR-520e	CLIP-seq
MIRT2104943	hsa-miR-520f	CLIP-seq
MIRT2104944	hsa-miR-556-5p	CLIP-seq
MIRT1354586	hsa-miR-570	CLIP-seq
MIRT1354592	hsa-miR-665	CLIP-seq
MIRT2104945	hsa-miR-762	CLIP-seq
MIRT2104946	hsa-miR-934	CLIP-seq
MIRT2104947	hsa-miR-936	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq
MIRT2329586	hsa-miR-106a	CLIP-seq
MIRT2329587	hsa-miR-106b	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT1354534	hsa-miR-1238	CLIP-seq
MIRT2104885	hsa-miR-1245b-3p	CLIP-seq
MIRT2329588	hsa-miR-125a-3p	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2329589	hsa-miR-138	CLIP-seq
MIRT2329590	hsa-miR-145	CLIP-seq
MIRT2329591	hsa-miR-146b-3p	CLIP-seq
MIRT2329592	hsa-miR-148a	CLIP-seq
MIRT2329593	hsa-miR-148b	CLIP-seq
MIRT2329594	hsa-miR-152	CLIP-seq
MIRT2329595	hsa-miR-17	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104891	hsa-miR-1825	CLIP-seq
MIRT2329596	hsa-miR-1827	CLIP-seq
MIRT2329597	hsa-miR-1976	CLIP-seq
MIRT2329598	hsa-miR-20a	CLIP-seq
MIRT2329599	hsa-miR-20b	CLIP-seq
MIRT1354541	hsa-miR-2110	CLIP-seq
MIRT2329600	hsa-miR-2116	CLIP-seq
MIRT2104894	hsa-miR-302a	CLIP-seq
MIRT2104895	hsa-miR-302b	CLIP-seq
MIRT2104896	hsa-miR-302c	CLIP-seq
MIRT2104897	hsa-miR-302d	CLIP-seq
MIRT2104898	hsa-miR-302e	CLIP-seq
MIRT2104899	hsa-miR-30a	CLIP-seq
MIRT2104900	hsa-miR-30b	CLIP-seq
MIRT2104901	hsa-miR-30c	CLIP-seq
MIRT2104902	hsa-miR-30d	CLIP-seq
MIRT2104903	hsa-miR-30e	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2104909	hsa-miR-3158-3p	CLIP-seq
MIRT2329601	hsa-miR-3158-5p	CLIP-seq
MIRT2329602	hsa-miR-3166	CLIP-seq
MIRT2329603	hsa-miR-3173-5p	CLIP-seq
MIRT2329604	hsa-miR-3179	CLIP-seq
MIRT2329605	hsa-miR-3607-3p	CLIP-seq
MIRT2329606	hsa-miR-3609	CLIP-seq
MIRT2329607	hsa-miR-3664-5p	CLIP-seq
MIRT2329608	hsa-miR-3686	CLIP-seq
MIRT2104911	hsa-miR-372	CLIP-seq
MIRT2104912	hsa-miR-373	CLIP-seq
MIRT2329609	hsa-miR-375	CLIP-seq
MIRT2104913	hsa-miR-383	CLIP-seq
MIRT2329610	hsa-miR-3909	CLIP-seq
MIRT2104914	hsa-miR-3914	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2104916	hsa-miR-3975	CLIP-seq
MIRT2329611	hsa-miR-425	CLIP-seq
MIRT2329612	hsa-miR-4264	CLIP-seq
MIRT1354556	hsa-miR-4271	CLIP-seq
MIRT2329613	hsa-miR-4273	CLIP-seq
MIRT2329614	hsa-miR-4299	CLIP-seq
MIRT2329615	hsa-miR-4316	CLIP-seq
MIRT2329616	hsa-miR-4325	CLIP-seq
MIRT2104917	hsa-miR-4446-3p	CLIP-seq
MIRT2104918	hsa-miR-4459	CLIP-seq
MIRT2104921	hsa-miR-4495	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104924	hsa-miR-4521	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2329617	hsa-miR-4677-5p	CLIP-seq
MIRT2329618	hsa-miR-4686	CLIP-seq
MIRT2104927	hsa-miR-4695-5p	CLIP-seq
MIRT2329619	hsa-miR-4700-3p	CLIP-seq
MIRT2329620	hsa-miR-4710	CLIP-seq
MIRT2329621	hsa-miR-4714-5p	CLIP-seq
MIRT2329622	hsa-miR-4722-3p	CLIP-seq
MIRT1354582	hsa-miR-4725-3p	CLIP-seq
MIRT2329623	hsa-miR-4728-3p	CLIP-seq
MIRT1354584	hsa-miR-4759	CLIP-seq
MIRT2329624	hsa-miR-4771	CLIP-seq
MIRT2104930	hsa-miR-4772-5p	CLIP-seq
MIRT2329625	hsa-miR-4796-3p	CLIP-seq
MIRT2329626	hsa-miR-5095	CLIP-seq
MIRT2104932	hsa-miR-510	CLIP-seq
MIRT2104933	hsa-miR-512-5p	CLIP-seq
MIRT2104935	hsa-miR-519a	CLIP-seq
MIRT2104936	hsa-miR-519b-3p	CLIP-seq
MIRT2104937	hsa-miR-519c-3p	CLIP-seq
MIRT2329627	hsa-miR-519d	CLIP-seq
MIRT2104938	hsa-miR-520a-3p	CLIP-seq
MIRT2104939	hsa-miR-520b	CLIP-seq
MIRT2104940	hsa-miR-520c-3p	CLIP-seq
MIRT2104941	hsa-miR-520d-3p	CLIP-seq
MIRT2104942	hsa-miR-520e	CLIP-seq
MIRT2104943	hsa-miR-520f	CLIP-seq
MIRT2329628	hsa-miR-548ah	CLIP-seq
MIRT2329629	hsa-miR-569	CLIP-seq
MIRT2329630	hsa-miR-610	CLIP-seq
MIRT2329631	hsa-miR-640	CLIP-seq
MIRT1354592	hsa-miR-665	CLIP-seq
MIRT2329632	hsa-miR-874	CLIP-seq
MIRT2329633	hsa-miR-885-3p	CLIP-seq
MIRT2329634	hsa-miR-93	CLIP-seq
MIRT2104946	hsa-miR-934	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2329589	hsa-miR-138	CLIP-seq
MIRT2329592	hsa-miR-148a	CLIP-seq
MIRT2329593	hsa-miR-148b	CLIP-seq
MIRT2329594	hsa-miR-152	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2623870	hsa-miR-377	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2329614	hsa-miR-4299	CLIP-seq
MIRT2329616	hsa-miR-4325	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq
MIRT2104884	hsa-miR-1208	CLIP-seq
MIRT2104888	hsa-miR-1271	CLIP-seq
MIRT2104889	hsa-miR-1303	CLIP-seq
MIRT2329589	hsa-miR-138	CLIP-seq
MIRT2329592	hsa-miR-148a	CLIP-seq
MIRT2329593	hsa-miR-148b	CLIP-seq
MIRT2329594	hsa-miR-152	CLIP-seq
MIRT2104890	hsa-miR-182	CLIP-seq
MIRT2104894	hsa-miR-302a	CLIP-seq
MIRT2104895	hsa-miR-302b	CLIP-seq
MIRT2104896	hsa-miR-302c	CLIP-seq
MIRT2104897	hsa-miR-302d	CLIP-seq
MIRT2104898	hsa-miR-302e	CLIP-seq
MIRT2104905	hsa-miR-3117-5p	CLIP-seq
MIRT2104906	hsa-miR-3123	CLIP-seq
MIRT2104911	hsa-miR-372	CLIP-seq
MIRT2104912	hsa-miR-373	CLIP-seq
MIRT2623870	hsa-miR-377	CLIP-seq
MIRT2104915	hsa-miR-3925-5p	CLIP-seq
MIRT2104916	hsa-miR-3975	CLIP-seq
MIRT2329614	hsa-miR-4299	CLIP-seq
MIRT2329616	hsa-miR-4325	CLIP-seq
MIRT2104923	hsa-miR-452	CLIP-seq
MIRT2104926	hsa-miR-4676-3p	CLIP-seq
MIRT2329618	hsa-miR-4686	CLIP-seq
MIRT2104938	hsa-miR-520a-3p	CLIP-seq
MIRT2104939	hsa-miR-520b	CLIP-seq
MIRT2104940	hsa-miR-520c-3p	CLIP-seq
MIRT2104941	hsa-miR-520d-3p	CLIP-seq
MIRT2104942	hsa-miR-520e	CLIP-seq
MIRT2104948	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	15523054, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	17509700
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IC	9618255
GO:0005886	Component	Plasma membrane	IDA	17509700
GO:0005886	Component	Plasma membrane	IDA	17509700
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	9916797
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0009609	Process	Response to symbiotic bacterium	IMP	18005709
GO:0009925	Component	Basal plasma membrane	IDA	35307651
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IDA	33124720
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IEA
GO:0015226	Function	Carnitine transmembrane transporter activity	EXP	9685390
GO:0015226	Function	Carnitine transmembrane transporter activity	IDA	9685390, 10454528, 10966938, 15523054, 17855766
GO:0015226	Function	Carnitine transmembrane transporter activity	IMP	9916797
GO:0015226	Function	Carnitine transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IBA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IDA	9618255, 23567998
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IMP	10454528, 10966938
GO:0015697	Process	Quaternary ammonium group transport	IBA
GO:0015697	Process	Quaternary ammonium group transport	IDA	9618255, 23567998
GO:0015697	Process	Quaternary ammonium group transport	IMP	10454528, 10966938
GO:0015879	Process	Carnitine transport	IDA	9685390
GO:0015879	Process	Carnitine transport	IEA
GO:0015879	Process	Carnitine transport	IMP	9916797
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	17274673, 18641280, 20722056
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	IPI	15523054
GO:0031526	Component	Brush border membrane	IDA	15238359
GO:0031526	Component	Brush border membrane	ISS	15523054
GO:0034341	Process	Response to type II interferon	IDA	20722056
GO:0034612	Process	Response to tumor necrosis factor	IDA	20722056
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IC	15238359
GO:0055085	Process	Transmembrane transport	IEA
GO:0060731	Process	Positive regulation of intestinal epithelial structure maintenance	IMP	18005709
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070715	Process	Sodium-dependent organic cation transport	IDA	9685390, 15238359
GO:0150104	Process	Transport across blood-brain barrier	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1900749	Process	(R)-carnitine transport	IDA	17509700
GO:1900749	Process	(R)-carnitine transport	IDA	17509700, 20722056, 33334877
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	IDA	17509700
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	IDA	17509700, 20722056, 33334877
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	IMP	23877104
GO:1901235	Function	(R)-carnitine transmembrane transporter activity	ISS
GO:1902270	Process	(R)-carnitine transmembrane transport	IDA	10454528, 10966938, 17855766
GO:1902270	Process	(R)-carnitine transmembrane transport	IMP	23877104
GO:1902270	Process	(R)-carnitine transmembrane transport	ISS
GO:1902603	Process	Carnitine transmembrane transport	IDA	15523054
GO:1902603	Process	Carnitine transmembrane transport	TAS
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IC	15238359

Other IDs

• MIM: 603377
• HGNC: 10969
• e!Ensembl: ENSG00000197375

Protein

• UniProt ID: O76082
• Protein name: Organic cation/carnitine transporter 2 (High-affinity sodium-dependent carnitine cotransporter) (Solute carrier family 22 member 5)
• Protein function: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00083	Sugar_tr	106 → 524	Sugar (and other) transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in kidney, skeletal muscle, heart and placenta (PubMed:10454528). Primarily expressed by surface epithelial cells of the colon (at protein level) (PubMed:18005709). Expressed in CD68 macrophage and CD43 T-cells but n
• Sequence:

  MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSS
  AWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
  QDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQ
  TGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA
  FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKA
  AKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFG
  LSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLV
  PPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF
  VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTR
  MLKDGQERPTILKSTAF

• Sequence length: 557

Pathways

KEGG:

Choline metabolism in cancer

Reactome:

Carnitine metabolism
Organic cation transport
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

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
Acute rhabdomyolysis	Likely pathogenic; Pathogenic	rs114269482	RCV005865191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carnitine deficiency	Likely pathogenic; Pathogenic	rs2126789878, rs2126783993, rs796052039, rs72552726	RCV005606821 RCV005607039 RCV005606652 RCV004798743	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome 20	Pathogenic	rs377767449	RCV003483445	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Decreased circulating carnitine concentration	Pathogenic; Likely pathogenic	rs369354736, rs727504159, rs121908887, rs121908888, rs121908891, rs386134200, rs72552732, rs749282641, rs377767449, rs756863825, rs538372785, rs1194929977	RCV002226543 RCV002226458 RCV002226442 RCV002226443 RCV002226444 RCV002226445 RCV002226446 RCV002226469 RCV002226450 RCV002226488 RCV002226512 RCV002226510	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs121908889	RCV005887330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic; Pathogenic	rs386134226	RCV005928377	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal carnitine transport defect	Pathogenic; Likely pathogenic	rs369354736, rs1400244280, rs1554085885, rs553647459, rs2126775809, rs2126782321, rs386134209, rs2126789878, rs2126791445, rs1157198543, rs2126791535, rs2126787981, rs2126791314, rs2126765527, rs546902674, rs2126764814, rs2126791456, rs569268772, rs931801909, rs2126786005, rs2126775742, rs185551386, rs2126783993, rs1047810495, rs2126775820, rs386134223, rs1193551446, rs2126783802, rs2126764868, rs2126785892, rs727504158, rs773693788, rs2126791630, rs780314370, rs1457258524, rs727504159, rs377724489, rs2532134826, rs2532134294, rs2532125221, rs2532106745, rs2532088224, rs2532134542, rs1165725533, rs2532106834, rs386134210, rs386134199, rs202088921, rs1266953756, rs2532089693, rs796052036, rs796052039, rs777004046, rs2532106520, rs2532138747, rs2532088340, rs2532134878, rs2532106510, rs1752740319, rs386134222, rs2532141714, rs72552727, rs1554087461, rs121908886, rs121908887, rs386134217, rs72552735, rs121908888, rs121908889, rs121908890, rs68018207, rs121908891, rs121908892, rs121908893, rs267607054, rs267607053, rs267607052, rs1482019839, rs2532025300, rs878853249, rs878853248, rs2532120947, rs386134190, rs886041277, rs1752440697, rs2532138401, rs2532141155, rs2532089565, rs2532139003, rs2532117208, rs2532129695, rs2532129779, rs765954398, rs2532141298, rs2532125817, rs2532120155, rs1417000465, rs762986044, rs2532137951, rs2532106399, rs2532090086, rs1580892200, rs2532106666, rs2532088875, rs2532089562, rs2532089356, rs2532106632, rs2532089906, rs139203363, rs2532138779, rs2532087760, rs2532141227, rs2532088290, rs2532117630, rs2532134216, rs2532129473, rs2532120119, rs386134200, rs386134201, rs2532088198, rs386134226, rs546442503, rs2532120820, rs1454499969, rs2532141698, rs1057516797, rs1057517069, rs1057517106, rs1057516765, rs747592919, rs1057516805, rs1057517306, rs763224132, rs761090705, rs1057516402, rs766398620, rs1057518297, rs1057519051, rs57262206, rs1554085861, rs377767443, rs72552722, rs11568520, rs72552723, rs377767444, rs72552724, rs72552725, rs377767447, rs72552726, rs386134195, rs114269482, rs72552728, rs386134202, rs386134204, rs386134207, rs386134208, rs72552729, rs386134211, rs386134212, rs72552730, rs72552731, rs386134215, rs144547521, rs72552732, rs72552733, rs386134218, rs60376624, rs386134221, rs386134224, rs386134225, rs772578415, rs775502377, rs1064793269, rs779385095, rs1178584184, rs749282641, rs1554087491, rs760320629, rs747821417, rs756650860, rs201262157, rs1554087719, rs1554088165, rs377216516, rs386134198, rs377767449, rs386134227, rs781330134, rs796052033, rs1554086010, rs1554085942, rs1554085892, rs1022453298, rs1321705165, rs1554087949, rs1554088200, rs774971089, rs1253026669, rs1554087913, rs1554088578, rs1554085973, rs756863825, rs749499293, rs1561566541, rs1561560424, rs1580888136, rs61731073, rs1580892402, rs1580894230, rs1580892239, rs538372785, rs1194929977, rs1751843672, rs1752447161, rs1752229268, rs1752666026, rs754008420, rs1752665099	RCV001346970 RCV001338604 RCV001383928 RCV001380634 RCV001387403 RCV001382161 RCV001383233 RCV001381749 RCV001385167 RCV001380048 RCV001783755 RCV002034142 RCV002037708 RCV001948087 RCV001975904 RCV001952371 RCV001962303 RCV001940696 RCV002035228 RCV001922573 RCV002000106 RCV002022086 RCV002035412 RCV001949739 RCV002002500 RCV001951258 RCV002013934 RCV001956275 RCV001949530 RCV001959906 RCV002026651 RCV002005112 RCV002021618 RCV002246709 RCV002286650 RCV002286657 RCV000411999 RCV001850109 RCV002309678 RCV002307859 RCV002309470 RCV002309519 RCV002307119 RCV002307263 RCV003060012 RCV003037120 RCV003074364 RCV003060949 RCV000173299 RCV002664012 RCV002597084 RCV002594451 RCV003474944 RCV001382067 RCV000984217 RCV002639794 RCV002663548 RCV002775309 RCV002832963 RCV002862589 RCV002913187 RCV002918662 RCV002967646 RCV000006780 RCV000006783 RCV000006785 RCV000006786 RCV000006787 RCV000006788 RCV000006789 RCV000006790 RCV000006791 RCV000006792 RCV000006793 RCV000006794 RCV000006795 RCV000006796 RCV000006797 RCV000006798 RCV003003207 RCV003059291 RCV000225039 RCV000225013 RCV003223597 RCV003226736 RCV001274463 RCV003236601 RCV003472774 RCV003472777 RCV003472778 RCV003472780 RCV003472781 RCV003472782 RCV003472783 RCV003472785 RCV003472786 RCV003472787 RCV003472788 RCV003472789 RCV003472790 RCV003472791 RCV003472792 RCV003472793 RCV003472794 RCV003472796 RCV003472797 RCV003507703 RCV003508676 RCV003508677 RCV003506926 RCV003508831 RCV003507023 RCV003507104 RCV003507836 RCV003616121 RCV003616284 RCV003616304 RCV003616408 RCV003616440 RCV003616417 RCV003616592 RCV003616833 RCV003616678 RCV003616776 RCV003616798 RCV003617032 RCV003615676 RCV003615697 RCV004576165 RCV004573605 RCV004593580 RCV000409917 RCV000409176 RCV000410584 RCV000411083 RCV000410615 RCV000410776 RCV000411969 RCV000410528 RCV000412234 RCV000411687 RCV000410688 RCV000541077 RCV000416283 RCV000022286 RCV000022287 RCV000006779 RCV000022293 RCV000022297 RCV000022298 RCV000022300 RCV000022301 RCV000022302 RCV003615732 RCV000022306 RCV000022308 RCV000022324 RCV000022334 RCV000022337 RCV000022339 RCV000022340 RCV004573606 RCV000022345 RCV000022350 RCV002035333 RCV000022352 RCV000022354 RCV001924005 RCV003508832 RCV000022357 RCV001975156 RCV003472775 RCV000022364 RCV000022365 RCV000022372 RCV001924022 RCV000022374 RCV000022379 RCV000022380 RCV000022381 RCV000022382 RCV000022385 RCV000022387 RCV002671958 RCV000546517 RCV001237032 RCV000670269 RCV000984307 RCV001865516 RCV000673165 RCV001063048 RCV000545553 RCV000537898 RCV000550851 RCV000556789 RCV000526996 RCV000555850 RCV000526345 RCV000535447 RCV000528265 RCV000022330 RCV000022309 RCV000032093 RCV000635351 RCV000625694 RCV000626063 RCV000672799 RCV000674161 RCV000667484 RCV000665371 RCV000674681 RCV000665409 RCV000665294 RCV000665060 RCV000670455 RCV000673009 RCV000669636 RCV000666108 RCV000666861 RCV000669076 RCV000671175 RCV000703959 RCV000701752 RCV000714865 RCV001386840 RCV000816533 RCV000807405 RCV000799193 RCV000985078 RCV001004171 RCV001035191 RCV001050052 RCV001045059 RCV001220780 RCV001216413 RCV001208797 RCV001207885 RCV001206442 RCV001214256 RCV001233439 RCV001229241 RCV001242928 RCV001246766 RCV001235654 RCV001230577	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC22A5-related disorder	Pathogenic; Likely pathogenic	rs121908886, rs57262206, rs72552722, rs72552724, rs386134210, rs72552732, rs386134225, rs201262157	RCV004754250 RCV003407353 RCV003398556 RCV004754274 RCV004754275 RCV004754276 RCV004730854 RCV003900147	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 5	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC PRIMARY CARNITINE DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC PRIMARY CARNITINE DEFICIENCY DISEASE	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute encephalopathy	Encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia of inadequate production	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16255050	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16484987, 16796743	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	16255050		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	20860503, 21907864, 22561531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	20860503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	22952014, 26671913, 31394757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	36233078	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16796743		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	16796743	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23674219		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22212555		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22212555, 40513964	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12084797, 12210323, 15487009, 18337137, 19238580		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	15487009, 18337137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG	29198778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	35622436, 37658577, 38166572	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37498360, 38166572	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	21641380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	21641380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	21641380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carditis	Carditis	CTD_human_DG	21641380		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	30735677		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	20031577	Associate	★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	29731766		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	16437728	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	16469794	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28911246		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25075794, 29428571		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28911246	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21641380		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12535646, 15107849, 15685536, 15751072, 15930978, 15955786, 16246312, 16255050, 16333318, 16344054, 16361305, 16373276, 16437728, 16469794, 16484987, 16519742, 16670523, 16724073, 16771961, 16796743, 16835882, 17006998, 17340776, 18162085, 18274826, 18715515, 20722056, 21122496, 21279723, 21674708, 21695374, 22118696, 26965072		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	15107849, 15685536, 16333318, 16437728, 17451203, 18274826		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	15751072, 15955786, 16255050, 16361305, 16437728, 16469794, 16484987, 16796743, 17006998, 17451203, 17786191, 18715515, 20031577, 22411504, 26965072, 37543814	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33901562	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	16796743	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16796743		★☆☆☆☆ Found in Text Mining only
Dysbiosis	Dysbiosis	Pubtator	37543814	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31437515		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	23127916		★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30670496		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30670496		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28974108	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32654140	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32276632, 39210374	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21641380		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32276632	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	36233078	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29581464	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24587332		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	18337137		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15930978, 16246312, 16361305, 16519742, 16670523, 18756601, 20722056, 21279723, 21695374, 26965072		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	16361305, 16469794, 17855766, 18698678, 23474282	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	16773684, 18756601		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19487253	Inhibit	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	38166572	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10504033		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10504033		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29678179	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25756049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22212555		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22374795, 24146874		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28911246		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28753539, 29309257, 30465787		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	36343260, 38166572, 39776477	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34824054	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	36450378	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12802501		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	12802501		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28420426		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	CTD_human_DG	21641380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36055244	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30670496		★☆☆☆☆ Found in Text Mining only
Neutral Lipid Storage Disease with Myopathy	Neutral lipid storage myopathy	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29614331		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15617188		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15617188		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	29731766		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19208393, 23379544, 30765883, 30863740, 31200524, 31364285, 31472821		★☆☆☆☆ Found in Text Mining only
Propionic acidemia	Propionic acidemia	GENOMICS_ENGLAND_DG	24816252, 27604308		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	16484987, 20031577		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29678179	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	10051646, 10504033, 11509010, 11715001, 17703373, 18337137, 19208393, 20074989, 21126579, 21922592, 22952014, 23379544, 25132046, 25827849, 27581592, 28298333, 28841266, 28857146, 29614331, 30213487, 30863740, 31187905, 31200524, 31364285, 31472821		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal carnitine transport defect	Renal Carnitine Transport Defect	GENOMICS_ENGLAND_DG	10051646, 25929793, 29198778, 3974805		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal carnitine transport defect	Renal Carnitine Transport Defect	CLINVAR_DG	10051646, 10072434, 10425211, 10480371, 10545605, 10679939, 11058897, 11715001, 12183691, 12204000, 12210323, 12408185, 12409266, 14605509, 14665638, 15303004, 15523054, 15617188, 15714519, 16652335, 16830263, 16931768, 17126586, 17594400, 17703373, 19208393, 19238580, 20027113, 20074989, 20208395, 20574985, 21126579, 21864509, 21922592, 22116472, 2216472, 2235122, 23090741, 23379544, 23430798, 23430858, 23430869, 23520115, 23653224, 23798014, 23963628, 24516753, 24746540, 24997454, 25132046, 25525159, 25665836, 25846890, 26190315, 26252091, 26589311, 26828774, 27896095, 27931018, 28711408, 28753539, 28841266, 29790872, 30609409, 9700600, 9916797		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal carnitine transport defect	Renal Carnitine Transport Defect	CLINGEN_DG	10051646, 10072434, 10425211, 10480371, 10679939, 27896095, 9685390, 9837751, 9916797		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal carnitine transport defect	Renal Carnitine Transport Defect	UNIPROT_DG	10072434, 10425211, 10480371, 10545605, 10559218, 10612840, 10679939, 11058897, 11715001, 15617188, 15714519, 16931768, 17126586, 20027113, 20074989, 20574985, 21922592, 28841266		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal carnitine transport defect	Renal Carnitine Transport Defect	CTD_human_DG	17703373		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal carnitine transport defect	Renal Carnitine Transport Defect	ORPHANET_DG	22989098		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15751072, 16484987, 16652416, 22952014		★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Short qt syndrome	Pubtator	37658577	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31437515		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic primary carnitine deficiency	Systemic Carnitine Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15955786, 20722056, 21279723, 21793125		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	40513964	Associate	★☆☆☆☆ Found in Text Mining only
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	39210374	Associate	★☆☆☆☆ Found in Text Mining only