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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6567
Gene name	Solute carrier family 16 member 2
Gene symbol	SLC16A2
Synonyms (NCBI Gene)	AHDSDXS128DXS128EMCT 7MCT 8MCT7MCT8MRX22XPCT
Chromosome	X
Chromosome location	Xq13.2
Summary	This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). T

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894931	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894936	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894938	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894939	T>G	Pathogenic	Coding sequence variant, missense variant
rs104894940	C>A	Pathogenic	Coding sequence variant, stop gained
rs113994164	TTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs113994166	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs122455132	T>C	Pathogenic	Coding sequence variant, missense variant
rs199904356	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs367543059	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906501	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs398124231	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587784382	C>T	Pathogenic	Stop gained, coding sequence variant
rs587784383	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587784384	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs759410438	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs766773277	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs797045962	->C	Pathogenic	Frameshift variant, coding sequence variant
rs797045963	GTAATCCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042238	G>A	Pathogenic	Splice acceptor variant
rs1163109289	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1363308293	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555989364	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555989375	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555989715	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555989729	G>T	Pathogenic	Splice donor variant
rs1555989846	AGTG>-	Pathogenic	Intron variant, splice donor variant
rs1602140936	G>A	Pathogenic	Coding sequence variant, missense variant
rs1602143383	G>T	Pathogenic	Coding sequence variant, missense variant
rs1602143432	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602144059	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

408

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050975	hsa-miR-17-5p	CLASH	23622248
MIRT054165	hsa-miR-191-5p	ImmunoprecipitationIn situ hybridizationLuciferase assayMicroarrayNorthern blotQRTPCRWestern blot	23505378
MIRT1352997	hsa-miR-1236	CLIP-seq
MIRT1352998	hsa-miR-1271	CLIP-seq
MIRT1352999	hsa-miR-1273f	CLIP-seq
MIRT1353000	hsa-miR-1294	CLIP-seq
MIRT1353001	hsa-miR-134	CLIP-seq
MIRT1353002	hsa-miR-141	CLIP-seq
MIRT1353003	hsa-miR-143	CLIP-seq
MIRT1353004	hsa-miR-145	CLIP-seq
MIRT1353005	hsa-miR-182	CLIP-seq
MIRT1353006	hsa-miR-19a	CLIP-seq
MIRT1353007	hsa-miR-19b	CLIP-seq
MIRT1353008	hsa-miR-200a	CLIP-seq
MIRT1353009	hsa-miR-23a	CLIP-seq
MIRT1353010	hsa-miR-23b	CLIP-seq
MIRT1353011	hsa-miR-23c	CLIP-seq
MIRT1353012	hsa-miR-24	CLIP-seq
MIRT1353013	hsa-miR-29a	CLIP-seq
MIRT1353014	hsa-miR-29b	CLIP-seq
MIRT1353015	hsa-miR-29c	CLIP-seq
MIRT1353016	hsa-miR-3118	CLIP-seq
MIRT1353017	hsa-miR-3150a-3p	CLIP-seq
MIRT1353018	hsa-miR-3159	CLIP-seq
MIRT1353019	hsa-miR-3175	CLIP-seq
MIRT1353020	hsa-miR-320e	CLIP-seq
MIRT1353021	hsa-miR-338-3p	CLIP-seq
MIRT1353022	hsa-miR-34a	CLIP-seq
MIRT1353023	hsa-miR-34c-5p	CLIP-seq
MIRT1353024	hsa-miR-3609	CLIP-seq
MIRT1353025	hsa-miR-412	CLIP-seq
MIRT1353026	hsa-miR-4284	CLIP-seq
MIRT1353027	hsa-miR-4293	CLIP-seq
MIRT1353028	hsa-miR-4318	CLIP-seq
MIRT1353029	hsa-miR-4459	CLIP-seq
MIRT1353030	hsa-miR-4474-3p	CLIP-seq
MIRT1353031	hsa-miR-4477b	CLIP-seq
MIRT1353032	hsa-miR-449a	CLIP-seq
MIRT1353033	hsa-miR-449b	CLIP-seq
MIRT739120	hsa-miR-455-5p	CLIP-seq
MIRT1353034	hsa-miR-4659a-3p	CLIP-seq
MIRT1353035	hsa-miR-4659a-5p	CLIP-seq
MIRT1353036	hsa-miR-4659b-3p	CLIP-seq
MIRT1353037	hsa-miR-4659b-5p	CLIP-seq
MIRT1353038	hsa-miR-4693-3p	CLIP-seq
MIRT1353039	hsa-miR-4694-3p	CLIP-seq
MIRT1353040	hsa-miR-4694-5p	CLIP-seq
MIRT1353041	hsa-miR-4708-5p	CLIP-seq
MIRT1353042	hsa-miR-4710	CLIP-seq
MIRT1353043	hsa-miR-4770	CLIP-seq
MIRT1353044	hsa-miR-4776-3p	CLIP-seq
MIRT1353045	hsa-miR-4792	CLIP-seq
MIRT1353046	hsa-miR-4802-3p	CLIP-seq
MIRT1353047	hsa-miR-486-5p	CLIP-seq
MIRT1353048	hsa-miR-491-5p	CLIP-seq
MIRT1353049	hsa-miR-539	CLIP-seq
MIRT1353050	hsa-miR-548ah	CLIP-seq
MIRT1353051	hsa-miR-548t	CLIP-seq
MIRT1353052	hsa-miR-576-3p	CLIP-seq
MIRT1353053	hsa-miR-642b	CLIP-seq
MIRT1353054	hsa-miR-665	CLIP-seq
MIRT1353055	hsa-miR-891b	CLIP-seq
MIRT1353056	hsa-miR-939	CLIP-seq
MIRT1353057	hsa-miR-96	CLIP-seq
MIRT739120	hsa-miR-455-5p	CLIP-seq
MIRT1352997	hsa-miR-1236	CLIP-seq
MIRT1352999	hsa-miR-1273f	CLIP-seq
MIRT2104530	hsa-miR-1292	CLIP-seq
MIRT2104531	hsa-miR-1343	CLIP-seq
MIRT1353002	hsa-miR-141	CLIP-seq
MIRT1353004	hsa-miR-145	CLIP-seq
MIRT2104532	hsa-miR-150	CLIP-seq
MIRT2104533	hsa-miR-1913	CLIP-seq
MIRT1353006	hsa-miR-19a	CLIP-seq
MIRT1353007	hsa-miR-19b	CLIP-seq
MIRT1353008	hsa-miR-200a	CLIP-seq
MIRT2104534	hsa-miR-3122	CLIP-seq
MIRT1353018	hsa-miR-3159	CLIP-seq
MIRT2104535	hsa-miR-324-3p	CLIP-seq
MIRT2104536	hsa-miR-361-3p	CLIP-seq
MIRT2104537	hsa-miR-365	CLIP-seq
MIRT2104538	hsa-miR-3664-3p	CLIP-seq
MIRT2104539	hsa-miR-3913-5p	CLIP-seq
MIRT2104540	hsa-miR-4283	CLIP-seq
MIRT1353028	hsa-miR-4318	CLIP-seq
MIRT2104541	hsa-miR-4436a	CLIP-seq
MIRT2104542	hsa-miR-4471	CLIP-seq
MIRT2104543	hsa-miR-450b-3p	CLIP-seq
MIRT739120	hsa-miR-455-5p	CLIP-seq
MIRT2104544	hsa-miR-4645-5p	CLIP-seq
MIRT1353034	hsa-miR-4659a-3p	CLIP-seq
MIRT1353036	hsa-miR-4659b-3p	CLIP-seq
MIRT2104545	hsa-miR-4673	CLIP-seq
MIRT2104546	hsa-miR-4713-3p	CLIP-seq
MIRT2104547	hsa-miR-4749-3p	CLIP-seq
MIRT2104548	hsa-miR-4793-5p	CLIP-seq
MIRT1353046	hsa-miR-4802-3p	CLIP-seq
MIRT1353047	hsa-miR-486-5p	CLIP-seq
MIRT2104549	hsa-miR-638	CLIP-seq
MIRT2104550	hsa-miR-769-3p	CLIP-seq
MIRT1353055	hsa-miR-891b	CLIP-seq
MIRT1352997	hsa-miR-1236	CLIP-seq
MIRT2328967	hsa-miR-1285	CLIP-seq
MIRT1353004	hsa-miR-145	CLIP-seq
MIRT2328968	hsa-miR-2861	CLIP-seq
MIRT2328969	hsa-miR-3145-3p	CLIP-seq
MIRT1353018	hsa-miR-3159	CLIP-seq
MIRT2328970	hsa-miR-3187-5p	CLIP-seq
MIRT2328971	hsa-miR-3199	CLIP-seq
MIRT2328972	hsa-miR-3945	CLIP-seq
MIRT2328973	hsa-miR-4253	CLIP-seq
MIRT2328974	hsa-miR-4432	CLIP-seq
MIRT2328975	hsa-miR-4481	CLIP-seq
MIRT2328976	hsa-miR-4648	CLIP-seq
MIRT1353034	hsa-miR-4659a-3p	CLIP-seq
MIRT1353036	hsa-miR-4659b-3p	CLIP-seq
MIRT2328977	hsa-miR-4740-5p	CLIP-seq
MIRT2328978	hsa-miR-4745-5p	CLIP-seq
MIRT2328979	hsa-miR-4758-5p	CLIP-seq
MIRT2328980	hsa-miR-499-5p	CLIP-seq
MIRT2328981	hsa-miR-545	CLIP-seq
MIRT2328982	hsa-miR-612	CLIP-seq
MIRT2328983	hsa-miR-661	CLIP-seq
MIRT1352997	hsa-miR-1236	CLIP-seq
MIRT1353004	hsa-miR-145	CLIP-seq
MIRT1353006	hsa-miR-19a	CLIP-seq
MIRT1353007	hsa-miR-19b	CLIP-seq
MIRT1353018	hsa-miR-3159	CLIP-seq
MIRT739120	hsa-miR-455-5p	CLIP-seq
MIRT2104547	hsa-miR-4749-3p	CLIP-seq
MIRT1353047	hsa-miR-486-5p	CLIP-seq
MIRT1353055	hsa-miR-891b	CLIP-seq
MIRT1352997	hsa-miR-1236	CLIP-seq
MIRT2623319	hsa-miR-1269	CLIP-seq
MIRT2623320	hsa-miR-1269b	CLIP-seq
MIRT1352999	hsa-miR-1273f	CLIP-seq
MIRT2623321	hsa-miR-1288	CLIP-seq
MIRT2104530	hsa-miR-1292	CLIP-seq
MIRT2623322	hsa-miR-1293	CLIP-seq
MIRT2623323	hsa-miR-1296	CLIP-seq
MIRT2623324	hsa-miR-1302	CLIP-seq
MIRT1353002	hsa-miR-141	CLIP-seq
MIRT1353003	hsa-miR-143	CLIP-seq
MIRT1353004	hsa-miR-145	CLIP-seq
MIRT2623325	hsa-miR-1470	CLIP-seq
MIRT2623326	hsa-miR-185	CLIP-seq
MIRT2623327	hsa-miR-187	CLIP-seq
MIRT2623328	hsa-miR-191	CLIP-seq
MIRT2623329	hsa-miR-1910	CLIP-seq
MIRT1353008	hsa-miR-200a	CLIP-seq
MIRT2623330	hsa-miR-204	CLIP-seq
MIRT2623331	hsa-miR-205	CLIP-seq
MIRT2623332	hsa-miR-211	CLIP-seq
MIRT2623333	hsa-miR-2110	CLIP-seq
MIRT2623334	hsa-miR-219-1-3p	CLIP-seq
MIRT2623335	hsa-miR-22	CLIP-seq
MIRT1353012	hsa-miR-24	CLIP-seq
MIRT2623336	hsa-miR-2467-5p	CLIP-seq
MIRT2623337	hsa-miR-296-5p	CLIP-seq
MIRT2623338	hsa-miR-3121-5p	CLIP-seq
MIRT2104534	hsa-miR-3122	CLIP-seq
MIRT2623339	hsa-miR-3127-3p	CLIP-seq
MIRT2623340	hsa-miR-3136-3p	CLIP-seq
MIRT2328969	hsa-miR-3145-3p	CLIP-seq
MIRT1353017	hsa-miR-3150a-3p	CLIP-seq
MIRT2623341	hsa-miR-3150b-3p	CLIP-seq
MIRT1353018	hsa-miR-3159	CLIP-seq
MIRT2623342	hsa-miR-3161	CLIP-seq
MIRT1353019	hsa-miR-3175	CLIP-seq
MIRT2623343	hsa-miR-3188	CLIP-seq
MIRT2623344	hsa-miR-3189-5p	CLIP-seq
MIRT1353020	hsa-miR-320e	CLIP-seq
MIRT2623345	hsa-miR-328	CLIP-seq
MIRT1353024	hsa-miR-3609	CLIP-seq
MIRT2623346	hsa-miR-3612	CLIP-seq
MIRT2104536	hsa-miR-361-3p	CLIP-seq
MIRT2623347	hsa-miR-3649	CLIP-seq
MIRT2104538	hsa-miR-3664-3p	CLIP-seq
MIRT2623348	hsa-miR-3667-3p	CLIP-seq
MIRT2623349	hsa-miR-3685	CLIP-seq
MIRT2623350	hsa-miR-370	CLIP-seq
MIRT2623351	hsa-miR-378	CLIP-seq
MIRT2623352	hsa-miR-378b	CLIP-seq
MIRT2623353	hsa-miR-378c	CLIP-seq
MIRT2623354	hsa-miR-378d	CLIP-seq
MIRT2623355	hsa-miR-378e	CLIP-seq
MIRT2623356	hsa-miR-378f	CLIP-seq
MIRT2623357	hsa-miR-378h	CLIP-seq
MIRT2623358	hsa-miR-378i	CLIP-seq
MIRT2623359	hsa-miR-3913-3p	CLIP-seq
MIRT2104539	hsa-miR-3913-5p	CLIP-seq
MIRT2623360	hsa-miR-3919	CLIP-seq
MIRT2623361	hsa-miR-3929	CLIP-seq
MIRT2623362	hsa-miR-3975	CLIP-seq
MIRT2623363	hsa-miR-422a	CLIP-seq
MIRT2623364	hsa-miR-4258	CLIP-seq
MIRT2623365	hsa-miR-4260	CLIP-seq
MIRT2104540	hsa-miR-4283	CLIP-seq
MIRT1353026	hsa-miR-4284	CLIP-seq
MIRT2623366	hsa-miR-4298	CLIP-seq
MIRT2623367	hsa-miR-4306	CLIP-seq
MIRT2623368	hsa-miR-4316	CLIP-seq
MIRT1353028	hsa-miR-4318	CLIP-seq
MIRT2623369	hsa-miR-4419b	CLIP-seq
MIRT2623370	hsa-miR-4427	CLIP-seq
MIRT2104541	hsa-miR-4436a	CLIP-seq
MIRT2623371	hsa-miR-4437	CLIP-seq
MIRT2623372	hsa-miR-4443	CLIP-seq
MIRT2623373	hsa-miR-4453	CLIP-seq
MIRT1353029	hsa-miR-4459	CLIP-seq
MIRT2104542	hsa-miR-4471	CLIP-seq
MIRT1353030	hsa-miR-4474-3p	CLIP-seq
MIRT1353031	hsa-miR-4477b	CLIP-seq
MIRT2623374	hsa-miR-4478	CLIP-seq
MIRT2328975	hsa-miR-4481	CLIP-seq
MIRT2623375	hsa-miR-4483	CLIP-seq
MIRT2623376	hsa-miR-4487	CLIP-seq
MIRT2623377	hsa-miR-4497	CLIP-seq
MIRT2623378	hsa-miR-4511	CLIP-seq
MIRT2623379	hsa-miR-4512	CLIP-seq
MIRT2623380	hsa-miR-4515	CLIP-seq
MIRT2623381	hsa-miR-4538	CLIP-seq
MIRT2623382	hsa-miR-455-3p	CLIP-seq
MIRT2623383	hsa-miR-4644	CLIP-seq
MIRT2623384	hsa-miR-4651	CLIP-seq
MIRT1353034	hsa-miR-4659a-3p	CLIP-seq
MIRT1353036	hsa-miR-4659b-3p	CLIP-seq
MIRT2623385	hsa-miR-4660	CLIP-seq
MIRT2623386	hsa-miR-4663	CLIP-seq
MIRT2623387	hsa-miR-4667-3p	CLIP-seq
MIRT2623388	hsa-miR-4680-3p	CLIP-seq
MIRT1353040	hsa-miR-4694-5p	CLIP-seq
MIRT1353041	hsa-miR-4708-5p	CLIP-seq
MIRT1353042	hsa-miR-4710	CLIP-seq
MIRT2328977	hsa-miR-4740-5p	CLIP-seq
MIRT2328978	hsa-miR-4745-5p	CLIP-seq
MIRT2623389	hsa-miR-4747-3p	CLIP-seq
MIRT2104547	hsa-miR-4749-3p	CLIP-seq
MIRT2623390	hsa-miR-4753-5p	CLIP-seq
MIRT2623391	hsa-miR-4755-5p	CLIP-seq
MIRT2623392	hsa-miR-4756-3p	CLIP-seq
MIRT2623393	hsa-miR-4758-3p	CLIP-seq
MIRT2328979	hsa-miR-4758-5p	CLIP-seq
MIRT2623394	hsa-miR-4761-5p	CLIP-seq
MIRT1353043	hsa-miR-4770	CLIP-seq
MIRT2623395	hsa-miR-4778-3p	CLIP-seq
MIRT2623396	hsa-miR-4784	CLIP-seq
MIRT2623397	hsa-miR-4790-3p	CLIP-seq
MIRT2623398	hsa-miR-4795-5p	CLIP-seq
MIRT1353046	hsa-miR-4802-3p	CLIP-seq
MIRT2623399	hsa-miR-4802-5p	CLIP-seq
MIRT2623400	hsa-miR-485-5p	CLIP-seq
MIRT2623401	hsa-miR-489	CLIP-seq
MIRT2623402	hsa-miR-509-3p	CLIP-seq
MIRT2623403	hsa-miR-511	CLIP-seq
MIRT2623404	hsa-miR-516b	CLIP-seq
MIRT1353050	hsa-miR-548ah	CLIP-seq
MIRT2623405	hsa-miR-548b-3p	CLIP-seq
MIRT2623406	hsa-miR-548l	CLIP-seq
MIRT1353051	hsa-miR-548t	CLIP-seq
MIRT1353052	hsa-miR-576-3p	CLIP-seq
MIRT2623407	hsa-miR-608	CLIP-seq
MIRT2623408	hsa-miR-610	CLIP-seq
MIRT2623409	hsa-miR-623	CLIP-seq
MIRT2623410	hsa-miR-624	CLIP-seq
MIRT2623411	hsa-miR-629	CLIP-seq
MIRT2623412	hsa-miR-650	CLIP-seq
MIRT2623413	hsa-miR-658	CLIP-seq
MIRT1353054	hsa-miR-665	CLIP-seq
MIRT2623414	hsa-miR-802	CLIP-seq
MIRT2623415	hsa-miR-876-3p	CLIP-seq
MIRT2623416	hsa-miR-885-3p	CLIP-seq
MIRT2623417	hsa-miR-9	CLIP-seq
MIRT1353056	hsa-miR-939	CLIP-seq
MIRT1352997	hsa-miR-1236	CLIP-seq
MIRT2623319	hsa-miR-1269	CLIP-seq
MIRT2623320	hsa-miR-1269b	CLIP-seq
MIRT1352999	hsa-miR-1273f	CLIP-seq
MIRT2623321	hsa-miR-1288	CLIP-seq
MIRT2104530	hsa-miR-1292	CLIP-seq
MIRT2623323	hsa-miR-1296	CLIP-seq
MIRT2623324	hsa-miR-1302	CLIP-seq
MIRT1353002	hsa-miR-141	CLIP-seq
MIRT1353003	hsa-miR-143	CLIP-seq
MIRT1353004	hsa-miR-145	CLIP-seq
MIRT2623326	hsa-miR-185	CLIP-seq
MIRT2623327	hsa-miR-187	CLIP-seq
MIRT2690895	hsa-miR-18a	CLIP-seq
MIRT2690896	hsa-miR-18b	CLIP-seq
MIRT2623328	hsa-miR-191	CLIP-seq
MIRT2623329	hsa-miR-1910	CLIP-seq
MIRT1353008	hsa-miR-200a	CLIP-seq
MIRT2623330	hsa-miR-204	CLIP-seq
MIRT2623331	hsa-miR-205	CLIP-seq
MIRT2623332	hsa-miR-211	CLIP-seq
MIRT2623333	hsa-miR-2110	CLIP-seq
MIRT2623334	hsa-miR-219-1-3p	CLIP-seq
MIRT2623335	hsa-miR-22	CLIP-seq
MIRT1353012	hsa-miR-24	CLIP-seq
MIRT2623336	hsa-miR-2467-5p	CLIP-seq
MIRT2623337	hsa-miR-296-5p	CLIP-seq
MIRT2690897	hsa-miR-31	CLIP-seq
MIRT2623338	hsa-miR-3121-5p	CLIP-seq
MIRT2104534	hsa-miR-3122	CLIP-seq
MIRT2623339	hsa-miR-3127-3p	CLIP-seq
MIRT2623340	hsa-miR-3136-3p	CLIP-seq
MIRT2328969	hsa-miR-3145-3p	CLIP-seq
MIRT1353017	hsa-miR-3150a-3p	CLIP-seq
MIRT1353018	hsa-miR-3159	CLIP-seq
MIRT2623342	hsa-miR-3161	CLIP-seq
MIRT1353019	hsa-miR-3175	CLIP-seq
MIRT2623343	hsa-miR-3188	CLIP-seq
MIRT2623344	hsa-miR-3189-5p	CLIP-seq
MIRT1353020	hsa-miR-320e	CLIP-seq
MIRT2623345	hsa-miR-328	CLIP-seq
MIRT1353024	hsa-miR-3609	CLIP-seq
MIRT2623346	hsa-miR-3612	CLIP-seq
MIRT2104536	hsa-miR-361-3p	CLIP-seq
MIRT2623347	hsa-miR-3649	CLIP-seq
MIRT2104538	hsa-miR-3664-3p	CLIP-seq
MIRT2623348	hsa-miR-3667-3p	CLIP-seq
MIRT2623349	hsa-miR-3685	CLIP-seq
MIRT2690898	hsa-miR-3688-5p	CLIP-seq
MIRT2623351	hsa-miR-378	CLIP-seq
MIRT2623352	hsa-miR-378b	CLIP-seq
MIRT2623353	hsa-miR-378c	CLIP-seq
MIRT2623354	hsa-miR-378d	CLIP-seq
MIRT2623355	hsa-miR-378e	CLIP-seq
MIRT2623356	hsa-miR-378f	CLIP-seq
MIRT2623357	hsa-miR-378h	CLIP-seq
MIRT2623358	hsa-miR-378i	CLIP-seq
MIRT2623359	hsa-miR-3913-3p	CLIP-seq
MIRT2104539	hsa-miR-3913-5p	CLIP-seq
MIRT2623361	hsa-miR-3929	CLIP-seq
MIRT2623362	hsa-miR-3975	CLIP-seq
MIRT2623363	hsa-miR-422a	CLIP-seq
MIRT2623364	hsa-miR-4258	CLIP-seq
MIRT2623365	hsa-miR-4260	CLIP-seq
MIRT2104540	hsa-miR-4283	CLIP-seq
MIRT2623366	hsa-miR-4298	CLIP-seq
MIRT2623367	hsa-miR-4306	CLIP-seq
MIRT2623368	hsa-miR-4316	CLIP-seq
MIRT1353028	hsa-miR-4318	CLIP-seq
MIRT2623369	hsa-miR-4419b	CLIP-seq
MIRT2623370	hsa-miR-4427	CLIP-seq
MIRT2104541	hsa-miR-4436a	CLIP-seq
MIRT2623371	hsa-miR-4437	CLIP-seq
MIRT2623372	hsa-miR-4443	CLIP-seq
MIRT2623373	hsa-miR-4453	CLIP-seq
MIRT1353029	hsa-miR-4459	CLIP-seq
MIRT2104542	hsa-miR-4471	CLIP-seq
MIRT1353031	hsa-miR-4477b	CLIP-seq
MIRT2623374	hsa-miR-4478	CLIP-seq
MIRT2328975	hsa-miR-4481	CLIP-seq
MIRT2623376	hsa-miR-4487	CLIP-seq
MIRT2623377	hsa-miR-4497	CLIP-seq
MIRT2623378	hsa-miR-4511	CLIP-seq
MIRT2623379	hsa-miR-4512	CLIP-seq
MIRT2623380	hsa-miR-4515	CLIP-seq
MIRT2623381	hsa-miR-4538	CLIP-seq
MIRT2623382	hsa-miR-455-3p	CLIP-seq
MIRT2623383	hsa-miR-4644	CLIP-seq
MIRT1353034	hsa-miR-4659a-3p	CLIP-seq
MIRT1353036	hsa-miR-4659b-3p	CLIP-seq
MIRT2623385	hsa-miR-4660	CLIP-seq
MIRT2623387	hsa-miR-4667-3p	CLIP-seq
MIRT2623388	hsa-miR-4680-3p	CLIP-seq
MIRT1353040	hsa-miR-4694-5p	CLIP-seq
MIRT1353041	hsa-miR-4708-5p	CLIP-seq
MIRT1353042	hsa-miR-4710	CLIP-seq
MIRT2690899	hsa-miR-4725-5p	CLIP-seq
MIRT2690900	hsa-miR-4735-3p	CLIP-seq
MIRT2328977	hsa-miR-4740-5p	CLIP-seq
MIRT2328978	hsa-miR-4745-5p	CLIP-seq
MIRT2623389	hsa-miR-4747-3p	CLIP-seq
MIRT2104547	hsa-miR-4749-3p	CLIP-seq
MIRT2623390	hsa-miR-4753-5p	CLIP-seq
MIRT2623391	hsa-miR-4755-5p	CLIP-seq
MIRT2623393	hsa-miR-4758-3p	CLIP-seq
MIRT2328979	hsa-miR-4758-5p	CLIP-seq
MIRT2623394	hsa-miR-4761-5p	CLIP-seq
MIRT1353043	hsa-miR-4770	CLIP-seq
MIRT2623395	hsa-miR-4778-3p	CLIP-seq
MIRT2623397	hsa-miR-4790-3p	CLIP-seq
MIRT1353046	hsa-miR-4802-3p	CLIP-seq
MIRT2623399	hsa-miR-4802-5p	CLIP-seq
MIRT2623400	hsa-miR-485-5p	CLIP-seq
MIRT2623401	hsa-miR-489	CLIP-seq
MIRT2690901	hsa-miR-504	CLIP-seq
MIRT2623402	hsa-miR-509-3p	CLIP-seq
MIRT2623403	hsa-miR-511	CLIP-seq
MIRT2623404	hsa-miR-516b	CLIP-seq
MIRT1353050	hsa-miR-548ah	CLIP-seq
MIRT2623405	hsa-miR-548b-3p	CLIP-seq
MIRT2623406	hsa-miR-548l	CLIP-seq
MIRT1353051	hsa-miR-548t	CLIP-seq
MIRT1353052	hsa-miR-576-3p	CLIP-seq
MIRT2623408	hsa-miR-610	CLIP-seq
MIRT2623409	hsa-miR-623	CLIP-seq
MIRT2623410	hsa-miR-624	CLIP-seq
MIRT2623411	hsa-miR-629	CLIP-seq
MIRT2623412	hsa-miR-650	CLIP-seq
MIRT2623413	hsa-miR-658	CLIP-seq
MIRT1353054	hsa-miR-665	CLIP-seq
MIRT2623414	hsa-miR-802	CLIP-seq
MIRT2623416	hsa-miR-885-3p	CLIP-seq
MIRT2623417	hsa-miR-9	CLIP-seq
MIRT1353056	hsa-miR-939	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	35271311
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19022891, 21315799, 26426690
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006520	Process	Amino acid metabolic process	IGI	26305885
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	TAS	9425115
GO:0015171	Function	Amino acid transmembrane transporter activity	IDA	26305885
GO:0015171	Function	Amino acid transmembrane transporter activity	IEA
GO:0015349	Function	Thyroid hormone transmembrane transporter activity	IBA
GO:0015349	Function	Thyroid hormone transmembrane transporter activity	IDA	19022891, 21315799, 26305885
GO:0015349	Function	Thyroid hormone transmembrane transporter activity	IEA
GO:0015349	Function	Thyroid hormone transmembrane transporter activity	IMP	26426690, 28526555
GO:0015718	Process	Monocarboxylic acid transport	TAS	9425115
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	18687783
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0042403	Process	Thyroid hormone metabolic process	IGI	26305885
GO:0042802	Function	Identical protein binding	IDA	19797118
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070327	Process	Thyroid hormone transport	IBA
GO:0070327	Process	Thyroid hormone transport	IDA	19022891, 21315799, 26305885
GO:0070327	Process	Thyroid hormone transport	IEA
GO:0070327	Process	Thyroid hormone transport	IMP	26426690, 28526555
GO:0070460	Process	Thyroid-stimulating hormone secretion	IEA
GO:0089718	Process	Amino acid import across plasma membrane	IDA	26305885
GO:0150104	Process	Transport across blood-brain barrier	IMP	28526555
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1905039	Process	Carboxylic acid transmembrane transport	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IMP	19022891

MIM	HGNC	e!Ensembl
300095	10923	ENSG00000147100

P36021

Protein name

Monocarboxylate transporter 8 (MCT 8) (Monocarboxylate transporter 7) (MCT 7) (Solute carrier family 16 member 2) (X-linked PEST-containing transporter)

Protein function

Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser exte

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	98 → 441	Major Facilitator Superfamily	Family
PF07690	MFS_1	408 → 532	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in liver and heart (PubMed:7981683). In adult brain tissue expression is largely confined to endothelial cells of the blood-brain barrier (at protein level) (PubMed:18687783, PubMed:32143555). {ECO:0000269|PubMed:18687

Sequence

MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPD
PAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNS
VGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAV
AFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSS
IFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLH
QRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLL
VCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFL
GLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAF
YFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI

Sequence length

539

Interactions

View interactions

	KEGG		Reactome
	Hormone signaling Thyroid hormone signaling pathway		Transport of organic anions

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Allan-Herndon-Dudley syndrome	Pathogenic; Likely pathogenic	rs1930463806, rs1380635081, rs2147833779, rs2147870607, rs2147871878, rs2147870528, rs2147870614, rs2147869490, rs2147833877, rs2147871919, rs1602099961, rs2147350836, rs2147871837, rs587784386, rs104894936 View all (37 more)	RCV001333549 RCV001333548 RCV001391665 RCV001553548 RCV002510594 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Decreased activity of the pyruvate dehydrogenase complex	Likely pathogenic; Pathogenic	rs587784383	RCV000415270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs587784384	RCV001847780	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs122455132	RCV000224792	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2147869490	RCV005922810	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC16A2-related disorder	Likely pathogenic	rs1313277352	RCV003406075	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs2147871878, rs2147833877, rs2147833883, rs2147871831, rs587784383, rs587784384, rs2519806555, rs2519810129, rs2519759046, rs766773277, rs1310705934, rs2519806818, rs886042238, rs933036653, rs2519759057 View all (7 more)	RCV001882658 RCV001944751 RCV001894801 RCV002002371 RCV001383614 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1602140936	RCV005902111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (101)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allan-Herndon-Dudley syndrome	Allan-Herndon-Dudley Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	UNIPROT_DG	14661163, 15488219, 15889350, 18636565, 23550058, 25380603, 25527620, 26426690, 27805744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	CLINGEN_DG	14661163, 15488219, 15889350, 17899191, 19194886, 20713192, 28526555, 29109240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	BEFREE	15889350, 15980113, 17574010, 18398436, 18589880, 19641107, 19811520, 19936787, 20083155, 20713192, 21098685, 21896621, 23161551, 23392090, 23419639 View all (33 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	GENOMICS_ENGLAND_DG	15889350, 18398436, 19194886, 24847459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	ORPHANET_DG	18398436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	CLINVAR_DG	24265446, 24721225, 25527620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28576880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	24721225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	24781735		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28971779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34868337, 37986376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34679181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	19811520, 35076175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea	Chorea	Pubtator	19018842, 19811520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	26426690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	21468521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	19194886, 19811520, 25222753, 29111262, 31410843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	14661163, 28742507, 31410843, 34679181, 38454300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36340268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32747424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	BEFREE	15834651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12871948, 14661163, 15889350, 18398436, 20628049, 20655035, 21098685, 21896621, 22805248, 23550058, 2393019, 24629861, 24665922, 25644381, 27672545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	38454300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	19811520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	38454300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	17684393, 18174701, 18334584, 21468521, 28235578, 30497070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	18166539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	14661163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	16731778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	16974106, 19641107, 27066791, 28407057, 28457184, 28576880, 29845892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	24721225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	16709608, 19018842, 19641107, 21098685, 25517855, 26322373, 29845892, 30296914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	19018842, 32559475, 32746752	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	26426690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16118346, 22924588, 25231447, 26322373		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	19018842, 19194886, 24721225, 31410843, 32559475, 33141165	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Learning Disabilities	Learning Disorders	BEFREE	19811520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	19811520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	19194886, 25896225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating 2	Hypomyelinating leukodystrophy	Pubtator	19194886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	21825978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	20373986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	20373986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	20373986	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31410843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28971779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28576880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	18319316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16118346, 22924588, 25231447, 26322373		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	BEFREE	16417886, 18398436, 19936787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	31410843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	19811520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	19811520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12871948, 14661163, 15889350, 18398436, 20628049, 20655035, 21098685, 21896621, 22805248, 23550058, 2393019, 24629861, 24665922, 25644381, 27672545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31182964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	BEFREE	18166539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23685355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21486766, 24204008, 25222753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	14661163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21813593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	19811520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	35269556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	25222753, 26426690, 30369548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	32559475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	22436252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29118715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	15980113, 17899191, 20713192, 23419639, 27977298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	25160547		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	19811520, 31856685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28576880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	16709608, 21415082, 21813593, 25896225, 28742507, 29407435, 30369548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	17684393, 18174701, 21468521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	28742507, 32746752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28576880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	28742507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	27805744, 31377265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25222753		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC16A2 (solute carrier family 16 member 2)