SLC16A2 (solute carrier family 16 member 2)

Gene

• Entrez ID: 6567
• Gene name: Solute carrier family 16 member 2
• Gene symbol: SLC16A2
• Synonyms: AHDS, DXS128, DXS128E, MCT 7, MCT 8, MCT7, MCT8, MRX22, XPCT
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050975	hsa-miR-17-5p	CLASH	23622248
MIRT054165	hsa-miR-191-5p	Immunoprecipitation, In situ hybridization, Luciferase assay, Microarray, Northern blot, QRTPCR, Western 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005215	Function	Transporter activity	TAS	7981683
GO:0005886	Component	Plasma membrane	IDA	19022891, 21315799
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	26426690
GO:0006520	Process	Cellular amino acid metabolic process	IGI	26305885
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	TAS	9425115
GO:0015171	Function	Amino acid transmembrane transporter activity	IDA	26305885
GO:0015293	Function	Symporter activity	IEA
GO:0015349	Function	Thyroid hormone transmembrane transporter activity	IBA	21873635
GO:0015349	Function	Thyroid hormone transmembrane transporter activity	IDA	19022891, 21315799, 26305885
GO:0015349	Function	Thyroid hormone transmembrane transporter activity	IMP	26426690, 28526555
GO:0015718	Process	Monocarboxylic acid transport	TAS	9425115
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	18687783
GO:0042403	Process	Thyroid hormone metabolic process	IGI	26305885
GO:0043252	Process	Sodium-independent organic anion transport	TAS
GO:0070327	Process	Thyroid hormone transport	IBA	21873635
GO:0070327	Process	Thyroid hormone transport	IDA	19022891, 21315799, 26305885
GO:0070327	Process	Thyroid hormone transport	IMP	26426690, 28526555
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:2000178	Process	Negative regulation of neural precursor cell proliferation	IMP	19022891

Other IDs

• MIM: 300095
• HGNC: 10923
• e!Ensembl: ENSG00000147100

Protein

• UniProt ID: 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

• Sequence:

  MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPD
  PAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNS
  VGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAV
  AFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSS
  IFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLH
  QRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLL
  VCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFL
  GLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAF
  YFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI

• Sequence length: 539

Pathways

KEGG:

Hormone signaling
Thyroid hormone signaling pathway

Reactome:

Transport of organic anions

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Allan-herndon-dudley syndrome	Allan-Herndon-Dudley syndrome (AHDS), Allan-Herndon-Dudley syndrome	rs104894931, rs104894936, rs122455132, rs104894938, rs104894939, rs104894940, rs387906501, rs113994166, rs367543059, rs587784386, rs587784382, rs587784383, rs587784384, rs797045965, rs797045966, rs766773277, rs797045962, rs797045963, rs1555989375, rs1555989729, rs1555989364, rs1555989846, rs1363308293, rs1569281085, rs1602140936, rs1602099961, rs1602143383, rs1602143432	15488219, 14661163, 25527620, 23550058, 18636565, 29109240, 15889350, 17899191, 19194886, 26426690, 18398436, 24265446, 24847459, 20713192, 27805744, 24721225, 28526555, 25380603
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	24781735
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	27989131
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Mental retardation	Severe intellectual disability, Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	14661163, 24629861, 21896621, 24665922, 21098685, 27672545, 25644381, 18398436, 15889350, 23550058, 2393019, 22805248, 20628049, 20655035, 12871948
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy
Aphasia	Aphasia
Bowel incontinence	Fecal Incontinence
Congenital anomaly of neck	Congenital anomaly of neck
Congenital pectus excavatum	Congenital pectus excavatum
Dysarthria	Dysarthria
Dysmorphic features	Dysmorphic features		23550058, 2393019, 15889350, 24629861, 20628049, 24665922, 20655035, 21098685, 27672545, 14661163, 18398436, 22805248, 21896621, 25644381, 12871948
Macrotia	Macrotia
Proptosis	Exophthalmos
Ptosis	Blepharoptosis, Ptosis	rs139920573
Spastic quadriplegia	Spastic Quadriplegia