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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80704
Gene name	Solute carrier family 19 member 3
Gene symbol	SLC19A3
Synonyms (NCBI Gene)	BBGDTHMD2THTR2hTHTR2thTr-2
Chromosome	2
Chromosome location	2q36.3
Summary	This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses t

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121917882	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121917884	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852957	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs137852958	C>A,G	Pathogenic	Stop gained, coding sequence variant, missense variant
rs138363524	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs141957107	C>T	Pathogenic	Splice donor variant
rs142166552	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145288025	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs145804755	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs145999922	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs147205930	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147502239	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148144444	C>G,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149806390	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200542114	T>A,C	Pathogenic	Intron variant
rs367737262	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs368364131	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs563607795	A>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs713993048	G>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs759807393	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs763130915	GAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs773140674	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs773971505	A>G	Pathogenic	Missense variant, coding sequence variant
rs775835429	->TC	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs786205213	->A	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs863224204	G>C	Pathogenic	Coding sequence variant, missense variant
rs980641322	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795112	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307963	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691615	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131691902	C>A,T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1282844765	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553568249	TAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1553571227	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553571813	A>G	Pathogenic	Coding sequence variant, missense variant
rs1559247315	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1559250774	G>T	Pathogenic	Coding sequence variant, stop gained
rs1559252723	T>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1574558558	GGCGCCTTGTAATCCCACAGGATTTGAACAT>-	Pathogenic	Coding sequence variant, frameshift variant

477

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027742	hsa-miR-98-5p	Microarray	19088304
MIRT681956	hsa-miR-890	HITS-CLIP	23706177
MIRT681955	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT681954	hsa-miR-3929	HITS-CLIP	23706177
MIRT681953	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681952	hsa-miR-4478	HITS-CLIP	23706177
MIRT681951	hsa-miR-135a-5p	HITS-CLIP	23706177
MIRT681950	hsa-miR-135b-5p	HITS-CLIP	23706177
MIRT681949	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681948	hsa-miR-4680-5p	HITS-CLIP	23706177
MIRT681947	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681946	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681945	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681944	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681943	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681942	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681941	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681940	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681939	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681938	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681937	hsa-miR-4458	HITS-CLIP	23706177
MIRT681936	hsa-miR-4500	HITS-CLIP	23706177
MIRT027742	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681935	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681934	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT637895	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT637894	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT637893	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT637892	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT637891	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT461456	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT681933	hsa-miR-7158-3p	HITS-CLIP	23706177
MIRT681932	hsa-miR-203b-3p	HITS-CLIP	23706177
MIRT637890	hsa-miR-30c-1-3p	HITS-CLIP	23706177
MIRT637889	hsa-miR-30c-2-3p	HITS-CLIP	23706177
MIRT637888	hsa-miR-6788-5p	HITS-CLIP	23706177
MIRT637887	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT637886	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT637885	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT637884	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT637883	hsa-miR-3689c	HITS-CLIP	23706177
MIRT637882	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT637881	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT637877	hsa-miR-887-5p	HITS-CLIP	23706177
MIRT681931	hsa-miR-665	HITS-CLIP	23706177
MIRT664871	hsa-miR-8063	HITS-CLIP	23824327
MIRT664870	hsa-miR-4698	HITS-CLIP	23824327
MIRT664869	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT664868	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT664867	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT664866	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT664865	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT664864	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT637900	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT637899	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT637898	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT637897	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT637896	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT664863	hsa-miR-4284	HITS-CLIP	23824327
MIRT664862	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT637895	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT637894	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT637893	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT637892	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT637891	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT461456	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT637890	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT637889	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT637888	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT637887	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT637886	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT637885	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT637884	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT637883	hsa-miR-3689c	HITS-CLIP	23824327
MIRT637882	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT637881	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT637880	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT637879	hsa-miR-3122	HITS-CLIP	23824327
MIRT637878	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT637877	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT637876	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT637900	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT637899	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT637898	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT637897	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT637896	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT637895	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT637894	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT637893	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT637892	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT637891	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT461456	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT637890	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT637889	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT637888	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT637887	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT637886	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT637885	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT637884	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT637883	hsa-miR-3689c	HITS-CLIP	23824327
MIRT637882	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT637881	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT637880	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT637879	hsa-miR-3122	HITS-CLIP	23824327
MIRT637878	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT637877	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT637876	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT461471	hsa-miR-4311	PAR-CLIP	23592263
MIRT461470	hsa-miR-6165	PAR-CLIP	23592263
MIRT461469	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT461468	hsa-miR-330-3p	PAR-CLIP	23592263
MIRT461467	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT461466	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT461465	hsa-miR-4481	PAR-CLIP	23592263
MIRT461464	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT461463	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT461462	hsa-miR-187-5p	PAR-CLIP	23592263
MIRT461461	hsa-miR-548v	PAR-CLIP	23592263
MIRT461460	hsa-miR-221-3p	PAR-CLIP	23592263
MIRT461459	hsa-miR-222-3p	PAR-CLIP	23592263
MIRT461458	hsa-miR-3689d	PAR-CLIP	23592263
MIRT461457	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT461456	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461454	hsa-miR-3175	PAR-CLIP	23592263
MIRT461455	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT461453	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT461452	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT461451	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT461450	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT461449	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT681956	hsa-miR-890	HITS-CLIP	23706177
MIRT681955	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT681954	hsa-miR-3929	HITS-CLIP	23706177
MIRT681953	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681952	hsa-miR-4478	HITS-CLIP	23706177
MIRT681951	hsa-miR-135a-5p	HITS-CLIP	23706177
MIRT681950	hsa-miR-135b-5p	HITS-CLIP	23706177
MIRT681949	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681948	hsa-miR-4680-5p	HITS-CLIP	23706177
MIRT681947	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681946	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681945	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681944	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681943	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681942	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681941	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681940	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681939	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681938	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681937	hsa-miR-4458	HITS-CLIP	23706177
MIRT681936	hsa-miR-4500	HITS-CLIP	23706177
MIRT027742	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681935	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681934	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT637895	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT637894	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT637893	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT637892	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT637891	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT461456	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT681933	hsa-miR-7158-3p	HITS-CLIP	23706177
MIRT681932	hsa-miR-203b-3p	HITS-CLIP	23706177
MIRT637890	hsa-miR-30c-1-3p	HITS-CLIP	23706177
MIRT637889	hsa-miR-30c-2-3p	HITS-CLIP	23706177
MIRT637888	hsa-miR-6788-5p	HITS-CLIP	23706177
MIRT637887	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT637886	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT637885	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT637884	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT637883	hsa-miR-3689c	HITS-CLIP	23706177
MIRT637882	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT637881	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT637877	hsa-miR-887-5p	HITS-CLIP	23706177
MIRT681931	hsa-miR-665	HITS-CLIP	23706177
MIRT664871	hsa-miR-8063	HITS-CLIP	23824327
MIRT664870	hsa-miR-4698	HITS-CLIP	23824327
MIRT664869	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT664868	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT664867	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT664866	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT664865	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT664864	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT637900	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT637899	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT637898	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT637897	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT637896	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT664863	hsa-miR-4284	HITS-CLIP	23824327
MIRT664862	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT637895	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT637894	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT637893	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT637892	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT637891	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT461456	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT637890	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT637889	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT637888	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT637887	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT637886	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT637885	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT637884	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT637883	hsa-miR-3689c	HITS-CLIP	23824327
MIRT637882	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT637881	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT637880	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT637879	hsa-miR-3122	HITS-CLIP	23824327
MIRT637878	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT637877	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT637876	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT637900	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT637899	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT637898	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT637897	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT637896	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT637895	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT637894	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT637893	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT637892	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT637891	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT461456	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT637890	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT637889	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT637888	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT637887	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT637886	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT637885	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT637884	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT637883	hsa-miR-3689c	HITS-CLIP	23824327
MIRT637882	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT637881	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT637880	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT637879	hsa-miR-3122	HITS-CLIP	23824327
MIRT637878	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT637877	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT637876	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT461471	hsa-miR-4311	PAR-CLIP	23592263
MIRT461470	hsa-miR-6165	PAR-CLIP	23592263
MIRT461469	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT461468	hsa-miR-330-3p	PAR-CLIP	23592263
MIRT461467	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT461466	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT461465	hsa-miR-4481	PAR-CLIP	23592263
MIRT461464	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT461463	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT461462	hsa-miR-187-5p	PAR-CLIP	23592263
MIRT461461	hsa-miR-548v	PAR-CLIP	23592263
MIRT461460	hsa-miR-221-3p	PAR-CLIP	23592263
MIRT461459	hsa-miR-222-3p	PAR-CLIP	23592263
MIRT461458	hsa-miR-3689d	PAR-CLIP	23592263
MIRT461457	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT461456	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461454	hsa-miR-3175	PAR-CLIP	23592263
MIRT461455	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT461453	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT461452	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT461451	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT461450	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT461449	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT1353815	hsa-let-7a	CLIP-seq
MIRT1353816	hsa-let-7b	CLIP-seq
MIRT1353817	hsa-let-7c	CLIP-seq
MIRT1353818	hsa-let-7d	CLIP-seq
MIRT1353819	hsa-let-7e	CLIP-seq
MIRT1353820	hsa-let-7f	CLIP-seq
MIRT1353821	hsa-let-7g	CLIP-seq
MIRT1353822	hsa-let-7i	CLIP-seq
MIRT1353823	hsa-miR-1182	CLIP-seq
MIRT1353824	hsa-miR-122	CLIP-seq
MIRT1353825	hsa-miR-1267	CLIP-seq
MIRT1353826	hsa-miR-130a	CLIP-seq
MIRT1353827	hsa-miR-130b	CLIP-seq
MIRT1353828	hsa-miR-135a	CLIP-seq
MIRT1353829	hsa-miR-135b	CLIP-seq
MIRT1353830	hsa-miR-145	CLIP-seq
MIRT1353831	hsa-miR-146a	CLIP-seq
MIRT1353832	hsa-miR-146b-5p	CLIP-seq
MIRT1353833	hsa-miR-1910	CLIP-seq
MIRT1353834	hsa-miR-202	CLIP-seq
MIRT1353835	hsa-miR-2114	CLIP-seq
MIRT1353836	hsa-miR-214	CLIP-seq
MIRT1353837	hsa-miR-298	CLIP-seq
MIRT1353838	hsa-miR-301a	CLIP-seq
MIRT1353839	hsa-miR-301b	CLIP-seq
MIRT1353840	hsa-miR-3123	CLIP-seq
MIRT1353841	hsa-miR-3135b	CLIP-seq
MIRT1353842	hsa-miR-3545-3p	CLIP-seq
MIRT1353843	hsa-miR-3611	CLIP-seq
MIRT1353844	hsa-miR-3619-5p	CLIP-seq
MIRT1353845	hsa-miR-3622a-3p	CLIP-seq
MIRT1353846	hsa-miR-3622b-3p	CLIP-seq
MIRT1353847	hsa-miR-3652	CLIP-seq
MIRT1353848	hsa-miR-3664-3p	CLIP-seq
MIRT1353849	hsa-miR-3664-5p	CLIP-seq
MIRT1353850	hsa-miR-3666	CLIP-seq
MIRT1353851	hsa-miR-3672	CLIP-seq
MIRT1353852	hsa-miR-376c	CLIP-seq
MIRT1353853	hsa-miR-3925-5p	CLIP-seq
MIRT1353854	hsa-miR-3926	CLIP-seq
MIRT1353855	hsa-miR-3976	CLIP-seq
MIRT1353856	hsa-miR-4289	CLIP-seq
MIRT1353857	hsa-miR-4291	CLIP-seq
MIRT1353858	hsa-miR-4295	CLIP-seq
MIRT1353859	hsa-miR-4423-5p	CLIP-seq
MIRT1353860	hsa-miR-4430	CLIP-seq
MIRT1353861	hsa-miR-4433	CLIP-seq
MIRT1353862	hsa-miR-4459	CLIP-seq
MIRT1353863	hsa-miR-454	CLIP-seq
MIRT1353864	hsa-miR-455-3p	CLIP-seq
MIRT1353865	hsa-miR-4714-5p	CLIP-seq
MIRT1353866	hsa-miR-4760-3p	CLIP-seq
MIRT1353867	hsa-miR-4775	CLIP-seq
MIRT1353868	hsa-miR-4786-5p	CLIP-seq
MIRT1353869	hsa-miR-4796-3p	CLIP-seq
MIRT1353870	hsa-miR-510	CLIP-seq
MIRT1353871	hsa-miR-520g	CLIP-seq
MIRT1353872	hsa-miR-520h	CLIP-seq
MIRT1353873	hsa-miR-548aa	CLIP-seq
MIRT1353874	hsa-miR-548ac	CLIP-seq
MIRT1353875	hsa-miR-548ae	CLIP-seq
MIRT1353876	hsa-miR-548aj	CLIP-seq
MIRT1353877	hsa-miR-548am	CLIP-seq
MIRT1353878	hsa-miR-548d-3p	CLIP-seq
MIRT1353879	hsa-miR-548s	CLIP-seq
MIRT1353880	hsa-miR-548x	CLIP-seq
MIRT1353881	hsa-miR-548z	CLIP-seq
MIRT1353882	hsa-miR-550b	CLIP-seq
MIRT1353883	hsa-miR-590-3p	CLIP-seq
MIRT1353884	hsa-miR-761	CLIP-seq
MIRT1353885	hsa-miR-769-5p	CLIP-seq
MIRT1353886	hsa-miR-922	CLIP-seq
MIRT1353887	hsa-miR-98	CLIP-seq
MIRT2104667	hsa-miR-103b	CLIP-seq
MIRT2104668	hsa-miR-1183	CLIP-seq
MIRT2104669	hsa-miR-1208	CLIP-seq
MIRT1353824	hsa-miR-122	CLIP-seq
MIRT2104670	hsa-miR-1255a	CLIP-seq
MIRT2104671	hsa-miR-1255b	CLIP-seq
MIRT2104672	hsa-miR-1262	CLIP-seq
MIRT2104673	hsa-miR-129-5p	CLIP-seq
MIRT1353826	hsa-miR-130a	CLIP-seq
MIRT1353827	hsa-miR-130b	CLIP-seq
MIRT2104674	hsa-miR-150	CLIP-seq
MIRT2104675	hsa-miR-2052	CLIP-seq
MIRT1353838	hsa-miR-301a	CLIP-seq
MIRT1353839	hsa-miR-301b	CLIP-seq
MIRT1353841	hsa-miR-3135b	CLIP-seq
MIRT2104676	hsa-miR-3137	CLIP-seq
MIRT2104677	hsa-miR-3143	CLIP-seq
MIRT2104678	hsa-miR-3191	CLIP-seq
MIRT2104679	hsa-miR-33a	CLIP-seq
MIRT2104680	hsa-miR-33b	CLIP-seq
MIRT2104681	hsa-miR-3613-3p	CLIP-seq
MIRT1353847	hsa-miR-3652	CLIP-seq
MIRT1353850	hsa-miR-3666	CLIP-seq
MIRT2104682	hsa-miR-3907	CLIP-seq
MIRT1353854	hsa-miR-3926	CLIP-seq
MIRT2104683	hsa-miR-3934	CLIP-seq
MIRT1353858	hsa-miR-4295	CLIP-seq
MIRT1353859	hsa-miR-4423-5p	CLIP-seq
MIRT1353860	hsa-miR-4430	CLIP-seq
MIRT2104684	hsa-miR-4525	CLIP-seq
MIRT1353863	hsa-miR-454	CLIP-seq
MIRT2104685	hsa-miR-4670-3p	CLIP-seq
MIRT2104686	hsa-miR-4701-3p	CLIP-seq
MIRT2104687	hsa-miR-4712-3p	CLIP-seq
MIRT2104688	hsa-miR-4716-3p	CLIP-seq
MIRT2104689	hsa-miR-4757-5p	CLIP-seq
MIRT2104690	hsa-miR-4779	CLIP-seq
MIRT1353868	hsa-miR-4786-5p	CLIP-seq
MIRT2104691	hsa-miR-543	CLIP-seq
MIRT1353879	hsa-miR-548s	CLIP-seq
MIRT2104692	hsa-miR-552	CLIP-seq
MIRT2104693	hsa-miR-562	CLIP-seq
MIRT2104694	hsa-miR-661	CLIP-seq
MIRT2104695	hsa-miR-764	CLIP-seq
MIRT2104696	hsa-miR-765	CLIP-seq
MIRT1353885	hsa-miR-769-5p	CLIP-seq
MIRT1353815	hsa-let-7a	CLIP-seq
MIRT1353816	hsa-let-7b	CLIP-seq
MIRT1353817	hsa-let-7c	CLIP-seq
MIRT1353818	hsa-let-7d	CLIP-seq
MIRT1353819	hsa-let-7e	CLIP-seq
MIRT1353820	hsa-let-7f	CLIP-seq
MIRT1353821	hsa-let-7g	CLIP-seq
MIRT1353822	hsa-let-7i	CLIP-seq
MIRT2104667	hsa-miR-103b	CLIP-seq
MIRT2104668	hsa-miR-1183	CLIP-seq
MIRT2104669	hsa-miR-1208	CLIP-seq
MIRT1353824	hsa-miR-122	CLIP-seq
MIRT1353825	hsa-miR-1267	CLIP-seq
MIRT1353826	hsa-miR-130a	CLIP-seq
MIRT1353827	hsa-miR-130b	CLIP-seq
MIRT1353828	hsa-miR-135a	CLIP-seq
MIRT1353829	hsa-miR-135b	CLIP-seq
MIRT1353834	hsa-miR-202	CLIP-seq
MIRT2104675	hsa-miR-2052	CLIP-seq
MIRT1353835	hsa-miR-2114	CLIP-seq
MIRT1353838	hsa-miR-301a	CLIP-seq
MIRT1353839	hsa-miR-301b	CLIP-seq
MIRT1353841	hsa-miR-3135b	CLIP-seq
MIRT2104676	hsa-miR-3137	CLIP-seq
MIRT2329229	hsa-miR-329	CLIP-seq
MIRT2329230	hsa-miR-345	CLIP-seq
MIRT2329231	hsa-miR-362-3p	CLIP-seq
MIRT1353847	hsa-miR-3652	CLIP-seq
MIRT1353849	hsa-miR-3664-5p	CLIP-seq
MIRT1353850	hsa-miR-3666	CLIP-seq
MIRT1353851	hsa-miR-3672	CLIP-seq
MIRT1353854	hsa-miR-3926	CLIP-seq
MIRT2104683	hsa-miR-3934	CLIP-seq
MIRT2329232	hsa-miR-4269	CLIP-seq
MIRT1353856	hsa-miR-4289	CLIP-seq
MIRT1353858	hsa-miR-4295	CLIP-seq
MIRT2329233	hsa-miR-4329	CLIP-seq
MIRT1353859	hsa-miR-4423-5p	CLIP-seq
MIRT1353860	hsa-miR-4430	CLIP-seq
MIRT1353861	hsa-miR-4433	CLIP-seq
MIRT2329234	hsa-miR-4438	CLIP-seq
MIRT1353862	hsa-miR-4459	CLIP-seq
MIRT1353863	hsa-miR-454	CLIP-seq
MIRT1353865	hsa-miR-4714-5p	CLIP-seq
MIRT1353868	hsa-miR-4786-5p	CLIP-seq
MIRT2329235	hsa-miR-5095	CLIP-seq
MIRT1353879	hsa-miR-548s	CLIP-seq
MIRT1353885	hsa-miR-769-5p	CLIP-seq
MIRT1353887	hsa-miR-98	CLIP-seq
MIRT2104669	hsa-miR-1208	CLIP-seq
MIRT2104670	hsa-miR-1255a	CLIP-seq
MIRT2104671	hsa-miR-1255b	CLIP-seq
MIRT1353825	hsa-miR-1267	CLIP-seq
MIRT1353849	hsa-miR-3664-5p	CLIP-seq
MIRT1353859	hsa-miR-4423-5p	CLIP-seq
MIRT2104687	hsa-miR-4712-3p	CLIP-seq
MIRT1353865	hsa-miR-4714-5p	CLIP-seq
MIRT2459552	hsa-miR-548c-3p	CLIP-seq
MIRT1353882	hsa-miR-550b	CLIP-seq
MIRT2459553	hsa-miR-924	CLIP-seq
MIRT2459552	hsa-miR-548c-3p	CLIP-seq
MIRT2104681	hsa-miR-3613-3p	CLIP-seq
MIRT2623533	hsa-miR-371-5p	CLIP-seq
MIRT2623534	hsa-miR-4662a-5p	CLIP-seq
MIRT2623535	hsa-miR-4676-5p	CLIP-seq
MIRT2623536	hsa-miR-4755-3p	CLIP-seq
MIRT1353874	hsa-miR-548ac	CLIP-seq
MIRT2459552	hsa-miR-548c-3p	CLIP-seq
MIRT1353878	hsa-miR-548d-3p	CLIP-seq
MIRT1353881	hsa-miR-548z	CLIP-seq
MIRT2623537	hsa-miR-575	CLIP-seq
MIRT2104670	hsa-miR-1255a	CLIP-seq
MIRT2104671	hsa-miR-1255b	CLIP-seq
MIRT1353825	hsa-miR-1267	CLIP-seq
MIRT2690907	hsa-miR-216a	CLIP-seq
MIRT2690908	hsa-miR-216b	CLIP-seq
MIRT2690909	hsa-miR-323-5p	CLIP-seq
MIRT2104681	hsa-miR-3613-3p	CLIP-seq
MIRT2690910	hsa-miR-3650	CLIP-seq
MIRT1353847	hsa-miR-3652	CLIP-seq
MIRT1353849	hsa-miR-3664-5p	CLIP-seq
MIRT2623533	hsa-miR-371-5p	CLIP-seq
MIRT1353859	hsa-miR-4423-5p	CLIP-seq
MIRT1353860	hsa-miR-4430	CLIP-seq
MIRT2623534	hsa-miR-4662a-5p	CLIP-seq
MIRT2623535	hsa-miR-4676-5p	CLIP-seq
MIRT2104687	hsa-miR-4712-3p	CLIP-seq
MIRT1353865	hsa-miR-4714-5p	CLIP-seq
MIRT2623536	hsa-miR-4755-3p	CLIP-seq
MIRT1353873	hsa-miR-548aa	CLIP-seq
MIRT1353874	hsa-miR-548ac	CLIP-seq
MIRT2459552	hsa-miR-548c-3p	CLIP-seq
MIRT1353878	hsa-miR-548d-3p	CLIP-seq
MIRT1353881	hsa-miR-548z	CLIP-seq
MIRT1353882	hsa-miR-550b	CLIP-seq
MIRT2623537	hsa-miR-575	CLIP-seq
MIRT2690911	hsa-miR-876-3p	CLIP-seq
MIRT2690912	hsa-miR-9	CLIP-seq
MIRT2459553	hsa-miR-924	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
SP1	Activation	15217784
SP1	Unknown	23989004;24525018
SP3	Activation	15217784

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0009229	Process	Thiamine diphosphate biosynthetic process	IEA
GO:0015234	Function	Thiamine transmembrane transporter activity	IBA
GO:0015234	Function	Thiamine transmembrane transporter activity	IEA
GO:0015234	Function	Thiamine transmembrane transporter activity	ISS
GO:0015234	Function	Thiamine transmembrane transporter activity	TAS
GO:0015888	Process	Thiamine transport	IDA	11731220, 33008889, 35512554
GO:0015888	Process	Thiamine transport	IEA
GO:0015888	Process	Thiamine transport	IMP	35724964
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11136550
GO:0031923	Process	Pyridoxine transport	IDA	33008889, 35512554, 36456177
GO:0031923	Process	Pyridoxine transport	IMP	35724964
GO:0042723	Process	Thiamine-containing compound metabolic process	TAS
GO:0051180	Process	Vitamin transport	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0071934	Process	Thiamine transmembrane transport	IEA
GO:0071934	Process	Thiamine transmembrane transport	ISS
GO:0090482	Function	Vitamin transmembrane transporter activity	IEA

MIM	HGNC	e!Ensembl
606152	16266	ENSG00000135917

Q9BZV2

Protein name

Thiamine transporter 2 (ThTr-2) (ThTr2) (Solute carrier family 19 member 3)

Protein function

Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism (PubMed:11731220, PubMed:33008889, PubMed:35512554, PubMed:35724964). Has no folate transport activity (PubMed:11731220). Mediates H(+)-dependent pyridoxine transp

PDB

8S4U , 8S5U , 8S5W , 8S5Z , 8S61 , 8S62 , 8XV2 , 8XV5 , 8XV9 , 8Z7R , 8Z7S , 8Z7T , 8Z7U , 8Z7V , 8Z7W , 8Z7X , 8Z7Y , 9G5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01770	Folate_carrier	10 → 441	Reduced folate carrier	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed but most abundant in placenta, kidney and liver. {ECO:0000269|PubMed:11136550, ECO:0000269|PubMed:15871139}.

Sequence

MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWT
YSYLVLLLPVFVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAE
VAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQLLVSLANMSYFYLNVISLASV
SVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQ
ILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSL
FLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYALVFGINTFIALVIQTI
MTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL

Sequence length

496

Interactions

View interactions

	KEGG		Reactome
	Vitamin digestion and absorption		Vitamin B1 (thiamin) metabolism

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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Biotin-responsive basal ganglia disease	Pathogenic; Likely pathogenic	rs2106318158, rs2106325859, rs2106328737, rs2106329702, rs2106329494, rs1695551164, rs2106325851, rs778816786, rs2106329218, rs713993048, rs786205213, rs2470573380, rs121917882, rs121917884, rs137852957 View all (43 more)	RCV001386752 RCV001388133 RCV001384512 RCV003771790 RCV001806393 View all (55 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC19A3-related disorder	Likely pathogenic; Pathogenic	rs373198092	RCV003898057	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)	Pathogenic	rs121917884	RCV004527286	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thiamine Metabolism Dysfunction Syndrome	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THIAMINE-RESPONSIVE ENCEPHALOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (102)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute encephalopathy	Encephalopathy	BEFREE	25876998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	26863430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26394601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	40243602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	23482991, 34586830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal ganglia disease, biotin-responsive	Basal Ganglia Diseases	BEFREE	15871139, 20065143, 22777947, 24099834, 24372704, 24789339, 24957181, 25876998, 27749535, 27905264, 28665968, 28677371, 29101630, 30054086, 31557427		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal ganglia disease, biotin-responsive	Basal Ganglia Diseases	CTD_human_DG	15871139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal ganglia disease, biotin-responsive	Basal Ganglia Diseases	UNIPROT_DG	15871139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal ganglia disease, biotin-responsive	Basal Ganglia Diseases	ORPHANET_DG	19387023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal ganglia disease, biotin-responsive	Basal Ganglia Diseases	GENOMICS_ENGLAND_DG	20065143, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal ganglia disease, biotin-responsive	Basal Ganglia Diseases	CLINVAR_DG	20065143, 23482991, 24957181, 26657515, 26863430, 26938784, 27290639, 27896110, 28832562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal Ganglia Diseases	CTD_human_DG	19387023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	21176162, 24099834, 26863430, 27749535, 28402605, 28677371, 34586830, 35532649, 37670342	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23482991, 24372704, 26863430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12643751, 12861052, 15328374, 20930543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20930543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21789241	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	21789241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	28677371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26718501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34614013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22382314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22382314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial dystonia	Craniofacial dystonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative brain disorder	Degenerative Brain Disorder	BEFREE	23482991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35532649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	26718501, 31726874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	40243602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26718501, 31726874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26718501, 31726874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	26718501, 31726874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	37670342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	26863430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	22777947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	21176162, 23469184, 23482991, 24372704, 24957181, 26863430, 28856750, 30054086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26863430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	CTD_human_DG	19387023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	38330587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	40243602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	29068569, 34586830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20930543, 24372704	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27743994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26718501, 31726874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26718501, 31726874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26718501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	26718501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	19879271, 23423671, 23469184, 23482991, 23589815, 24166474, 24878502, 26975589, 27191787, 27896110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	23423671, 24957181, 28677371, 28706281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	28677371, 36093993, 36675121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	19879271, 23423671, 23469184, 23482991, 23589815, 24166474, 24878502, 26975589, 27191787, 27896110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	19879271, 23423671, 23469184, 23482991, 23589815, 24166474, 24878502, 26975589, 27191787, 27896110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	19879271, 23423671, 23469184, 23482991, 23589815, 24166474, 24878502, 26975589, 27191787, 27896110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	19879271, 23423671, 23469184, 23482991, 23589815, 24166474, 24878502, 26975589, 27191787, 27896110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	19879271, 23423671, 23469184, 23482991, 23589815, 24166474, 24878502, 26975589, 27191787, 27896110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lenticulostriate Disorders	Lenticulostriate Disorders	CTD_human_DG	19387023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12643751, 12861052, 15328374, 20930543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19816091, 21789241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12861052, 21789241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22382314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12861052, 21789241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12861052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35532649, 40243602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28706281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	26718501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	19879271, 23423671, 23469184, 23482991, 23589815, 24166474, 24878502, 26975589, 27191787, 27896110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12861052, 15328374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28677371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28706281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	21176162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26718501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19816091, 21789241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19816091, 21789241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	BEFREE	15705657, 19096015, 28665968, 31764942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine deficiency	Pubtator	24957181, 34586830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wernicke Encephalopathy	Wernicke Encephalopathy	BEFREE	21176162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wernicke Encephalopathy	Wernicke encephalopathy	Pubtator	21176162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC19A3 (solute carrier family 19 member 3)