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SLC17A5 (solute carrier family 17 member 5)

Gene

26503

Solute carrier family 17 member 5

SLC17A5

AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, VEAT

6q13

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disor

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SNP ID	Visualize variation	Clinical significance	Consequence
rs74360232	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338794	G>A	Pathogenic	Coding sequence variant, missense variant
rs80338795	T>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs119491109	T>C	Pathogenic	Missense variant, coding sequence variant
rs119491110	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs141463026	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142553916	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146095590	C>A,T	Likely-pathogenic	Splice donor variant
rs201284672	A>C	Pathogenic	Coding sequence variant, stop gained
rs386833987	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs386833988	AC>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs386833989	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833990	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs386833991	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs386833992	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833993	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs386833994	TTTCTTAATGATGAA>-	Pathogenic	Inframe deletion, coding sequence variant
rs386833995	C>G	Likely-pathogenic	Splice acceptor variant
rs386833996	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587779410	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs727504156	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs727504157	C>A	Pathogenic	Stop gained, coding sequence variant
rs769235753	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs771156053	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs772039085	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794729653	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs868677428	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516257	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516419	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516505	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516528	T>G	Likely-pathogenic	Splice acceptor variant
rs1057516549	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516601	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516862	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516910	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516951	C>T	Likely-pathogenic	Splice donor variant
rs1057517028	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057517111	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517119	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517269	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794334	A>G	Pathogenic	Splice donor variant
rs1440688652	A>G	Likely-pathogenic	Splice donor variant
rs1472109408	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1474077825	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1554161865	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554162230	T>C	Likely-pathogenic	Splice acceptor variant
rs1554162842	T>G	Likely-pathogenic	Splice acceptor variant
rs1554163878	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554163958	C>T	Likely-pathogenic	Splice acceptor variant
rs1554164078	A>T	Likely-pathogenic	Splice donor variant
rs1554164096	T>C	Pathogenic	Splice acceptor variant
rs1554164322	C>G	Likely-pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002576	hsa-miR-124-3p	Microarray	15685193
MIRT018617	hsa-miR-335-5p	Microarray	18185580
MIRT002576	hsa-miR-124-3p	Microarray	18668037
MIRT002576	hsa-miR-124-3p	Microarray	15685193
MIRT027706	hsa-miR-98-5p	Microarray	19088304
MIRT029983	hsa-miR-26b-5p	Microarray	19088304
MIRT030990	hsa-miR-21-5p	Microarray	18591254
MIRT554233	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT554232	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT554231	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT554230	hsa-miR-940	PAR-CLIP	21572407
MIRT554229	hsa-miR-1827	PAR-CLIP	21572407
MIRT554228	hsa-miR-633	PAR-CLIP	21572407
MIRT554227	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546476	hsa-miR-4255	PAR-CLIP	21572407
MIRT546475	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT546474	hsa-miR-4328	PAR-CLIP	21572407
MIRT554233	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT554232	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT554231	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT554230	hsa-miR-940	PAR-CLIP	21572407
MIRT554229	hsa-miR-1827	PAR-CLIP	21572407
MIRT554228	hsa-miR-633	PAR-CLIP	21572407
MIRT554227	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546476	hsa-miR-4255	PAR-CLIP	21572407
MIRT546475	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT546474	hsa-miR-4328	PAR-CLIP	21572407
MIRT1353425	hsa-miR-106a	CLIP-seq
MIRT1353426	hsa-miR-106b	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT1353428	hsa-miR-1226	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353430	hsa-miR-1245	CLIP-seq
MIRT1353431	hsa-miR-1245b-5p	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353435	hsa-miR-17	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT1353437	hsa-miR-20a	CLIP-seq
MIRT1353438	hsa-miR-20b	CLIP-seq
MIRT1353439	hsa-miR-23a	CLIP-seq
MIRT1353440	hsa-miR-23b	CLIP-seq
MIRT1353441	hsa-miR-23c	CLIP-seq
MIRT1353442	hsa-miR-302a	CLIP-seq
MIRT1353443	hsa-miR-302b	CLIP-seq
MIRT1353444	hsa-miR-302c	CLIP-seq
MIRT1353445	hsa-miR-302d	CLIP-seq
MIRT1353446	hsa-miR-302e	CLIP-seq
MIRT1353447	hsa-miR-3125	CLIP-seq
MIRT1353448	hsa-miR-3142	CLIP-seq
MIRT1353449	hsa-miR-3145-3p	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353451	hsa-miR-3160-3p	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT1353453	hsa-miR-320a	CLIP-seq
MIRT1353454	hsa-miR-320b	CLIP-seq
MIRT1353455	hsa-miR-320c	CLIP-seq
MIRT1353456	hsa-miR-320d	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT1353458	hsa-miR-361-5p	CLIP-seq
MIRT1353459	hsa-miR-3617	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT1353461	hsa-miR-3681	CLIP-seq
MIRT1353462	hsa-miR-3689a-5p	CLIP-seq
MIRT1353463	hsa-miR-3689b	CLIP-seq
MIRT1353464	hsa-miR-3689e	CLIP-seq
MIRT1353465	hsa-miR-3689f	CLIP-seq
MIRT1353466	hsa-miR-3691-5p	CLIP-seq
MIRT1353467	hsa-miR-372	CLIP-seq
MIRT1353468	hsa-miR-373	CLIP-seq
MIRT1353469	hsa-miR-376c	CLIP-seq
MIRT1353470	hsa-miR-3908	CLIP-seq
MIRT1353471	hsa-miR-3916	CLIP-seq
MIRT1353472	hsa-miR-3934	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353474	hsa-miR-3942-5p	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT1353476	hsa-miR-4251	CLIP-seq
MIRT1353477	hsa-miR-4257	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353479	hsa-miR-433	CLIP-seq
MIRT1353480	hsa-miR-4429	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353484	hsa-miR-4660	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353487	hsa-miR-4699-3p	CLIP-seq
MIRT1353488	hsa-miR-4703-5p	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT1353491	hsa-miR-4749-3p	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT1353493	hsa-miR-4766-3p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT1353495	hsa-miR-4789-5p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353497	hsa-miR-499-3p	CLIP-seq
MIRT1353498	hsa-miR-499a-3p	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT1353502	hsa-miR-512-3p	CLIP-seq
MIRT1353503	hsa-miR-519d	CLIP-seq
MIRT1353504	hsa-miR-520a-3p	CLIP-seq
MIRT1353505	hsa-miR-520b	CLIP-seq
MIRT1353506	hsa-miR-520c-3p	CLIP-seq
MIRT1353507	hsa-miR-520d-3p	CLIP-seq
MIRT1353508	hsa-miR-520d-5p	CLIP-seq
MIRT1353509	hsa-miR-520e	CLIP-seq
MIRT1353510	hsa-miR-520g	CLIP-seq
MIRT1353511	hsa-miR-520h	CLIP-seq
MIRT1353512	hsa-miR-524-5p	CLIP-seq
MIRT1353513	hsa-miR-548an	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT1353515	hsa-miR-552	CLIP-seq
MIRT1353516	hsa-miR-580	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT1353518	hsa-miR-630	CLIP-seq
MIRT1353519	hsa-miR-641	CLIP-seq
MIRT1353520	hsa-miR-885-3p	CLIP-seq
MIRT1353521	hsa-miR-93	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT1353428	hsa-miR-1226	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT2104596	hsa-miR-1285	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2104597	hsa-miR-24	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2104599	hsa-miR-3187-5p	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT2104602	hsa-miR-421	CLIP-seq
MIRT2104603	hsa-miR-4284	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT2104604	hsa-miR-4420	CLIP-seq
MIRT2104605	hsa-miR-4423-5p	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104608	hsa-miR-4501	CLIP-seq
MIRT2104609	hsa-miR-4503	CLIP-seq
MIRT2104610	hsa-miR-4514	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT2104613	hsa-miR-4690-5p	CLIP-seq
MIRT2104614	hsa-miR-4692	CLIP-seq
MIRT2104615	hsa-miR-4709-5p	CLIP-seq
MIRT2104616	hsa-miR-4736	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT2104617	hsa-miR-4772-3p	CLIP-seq
MIRT2104618	hsa-miR-4795-3p	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT2104619	hsa-miR-579	CLIP-seq
MIRT2104620	hsa-miR-595	CLIP-seq
MIRT2104621	hsa-miR-612	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2104623	hsa-miR-661	CLIP-seq
MIRT2104624	hsa-miR-676	CLIP-seq
MIRT1353425	hsa-miR-106a	CLIP-seq
MIRT1353426	hsa-miR-106b	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT2329039	hsa-miR-1224-3p	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT2329040	hsa-miR-1254	CLIP-seq
MIRT2104596	hsa-miR-1285	CLIP-seq
MIRT2329041	hsa-miR-1294	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353435	hsa-miR-17	CLIP-seq
MIRT2329043	hsa-miR-204	CLIP-seq
MIRT1353437	hsa-miR-20a	CLIP-seq
MIRT1353438	hsa-miR-20b	CLIP-seq
MIRT2329044	hsa-miR-211	CLIP-seq
MIRT2329045	hsa-miR-22	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT1353442	hsa-miR-302a	CLIP-seq
MIRT1353443	hsa-miR-302b	CLIP-seq
MIRT1353444	hsa-miR-302c	CLIP-seq
MIRT1353445	hsa-miR-302d	CLIP-seq
MIRT1353446	hsa-miR-302e	CLIP-seq
MIRT2329048	hsa-miR-3116	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2329049	hsa-miR-3159	CLIP-seq
MIRT2104599	hsa-miR-3187-5p	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT1353458	hsa-miR-361-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT1353461	hsa-miR-3681	CLIP-seq
MIRT1353467	hsa-miR-372	CLIP-seq
MIRT1353468	hsa-miR-373	CLIP-seq
MIRT2329050	hsa-miR-3915	CLIP-seq
MIRT2329051	hsa-miR-3938	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT2329052	hsa-miR-3943	CLIP-seq
MIRT2104602	hsa-miR-421	CLIP-seq
MIRT1353476	hsa-miR-4251	CLIP-seq
MIRT2329053	hsa-miR-4316	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353479	hsa-miR-433	CLIP-seq
MIRT2104604	hsa-miR-4420	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT2329054	hsa-miR-4433	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2329055	hsa-miR-4459	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104609	hsa-miR-4503	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT2329057	hsa-miR-4690-3p	CLIP-seq
MIRT2329058	hsa-miR-4695-3p	CLIP-seq
MIRT2329059	hsa-miR-4708-5p	CLIP-seq
MIRT2104615	hsa-miR-4709-5p	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT2329060	hsa-miR-4755-5p	CLIP-seq
MIRT2329061	hsa-miR-4756-3p	CLIP-seq
MIRT2329062	hsa-miR-4768-3p	CLIP-seq
MIRT2104617	hsa-miR-4772-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353502	hsa-miR-512-3p	CLIP-seq
MIRT1353503	hsa-miR-519d	CLIP-seq
MIRT1353504	hsa-miR-520a-3p	CLIP-seq
MIRT1353505	hsa-miR-520b	CLIP-seq
MIRT1353506	hsa-miR-520c-3p	CLIP-seq
MIRT1353507	hsa-miR-520d-3p	CLIP-seq
MIRT1353509	hsa-miR-520e	CLIP-seq
MIRT1353510	hsa-miR-520g	CLIP-seq
MIRT1353511	hsa-miR-520h	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT2329063	hsa-miR-548g	CLIP-seq
MIRT2329064	hsa-miR-548m	CLIP-seq
MIRT2329065	hsa-miR-561	CLIP-seq
MIRT1353516	hsa-miR-580	CLIP-seq
MIRT2104621	hsa-miR-612	CLIP-seq
MIRT2329066	hsa-miR-623	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2104623	hsa-miR-661	CLIP-seq
MIRT2329067	hsa-miR-758	CLIP-seq
MIRT1353520	hsa-miR-885-3p	CLIP-seq
MIRT2329068	hsa-miR-891b	CLIP-seq
MIRT1353521	hsa-miR-93	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2394620	hsa-miR-3202	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT2394621	hsa-miR-4747-5p	CLIP-seq
MIRT2329065	hsa-miR-561	CLIP-seq
MIRT2394622	hsa-miR-720	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT2329050	hsa-miR-3915	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2623493	hsa-miR-1200	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT2623494	hsa-miR-1321	CLIP-seq
MIRT2623495	hsa-miR-1915	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2623496	hsa-miR-2392	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT2623497	hsa-miR-3126-3p	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2623498	hsa-miR-3148	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2623499	hsa-miR-3192	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT2623500	hsa-miR-3914	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT2623501	hsa-miR-4252	CLIP-seq
MIRT2623502	hsa-miR-4270	CLIP-seq
MIRT2623503	hsa-miR-4279	CLIP-seq
MIRT2623504	hsa-miR-4314	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT2623505	hsa-miR-4419a	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2623506	hsa-miR-4441	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2623507	hsa-miR-4510	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT2623508	hsa-miR-4725-5p	CLIP-seq
MIRT2623509	hsa-miR-4726-3p	CLIP-seq
MIRT2623510	hsa-miR-4728-5p	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT2623511	hsa-miR-4739	CLIP-seq
MIRT2623512	hsa-miR-4756-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT2623513	hsa-miR-4777-3p	CLIP-seq
MIRT2623514	hsa-miR-4786-3p	CLIP-seq
MIRT2623515	hsa-miR-496	CLIP-seq
MIRT2623516	hsa-miR-504	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT2623517	hsa-miR-544b	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2623518	hsa-miR-765	CLIP-seq
MIRT2623519	hsa-miR-873	CLIP-seq
MIRT2623520	hsa-miR-875-3p	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2623493	hsa-miR-1200	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT2623495	hsa-miR-1915	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2623496	hsa-miR-2392	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT2623497	hsa-miR-3126-3p	CLIP-seq
MIRT2623498	hsa-miR-3148	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2623499	hsa-miR-3192	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2623500	hsa-miR-3914	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT2623501	hsa-miR-4252	CLIP-seq
MIRT2623503	hsa-miR-4279	CLIP-seq
MIRT2623504	hsa-miR-4314	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT2623509	hsa-miR-4726-3p	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT2623513	hsa-miR-4777-3p	CLIP-seq
MIRT2623515	hsa-miR-496	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT2623517	hsa-miR-544b	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT2623518	hsa-miR-765	CLIP-seq
MIRT2623519	hsa-miR-873	CLIP-seq
MIRT2623520	hsa-miR-875-3p	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005351	Function	Carbohydrate:proton symporter activity	TAS	10581036
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	3961501
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006811	Process	Ion transport	TAS
GO:0006820	Process	Anion transport	IBA	21873635
GO:0006865	Process	Amino acid transport	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0015136	Function	Sialic acid transmembrane transporter activity	IBA	21873635
GO:0015136	Function	Sialic acid transmembrane transporter activity	IDA	10581036
GO:0015538	Function	Sialic acid:proton symporter activity	TAS
GO:0015739	Process	Sialic acid transport	IBA	21873635
GO:0015739	Process	Sialic acid transport	IDA	10581036
GO:0016020	Component	Membrane	TAS	10581036
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0034219	Process	Carbohydrate transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
604322	10933	ENSG00000119899

Protein

UniProt ID

Q9NRA2

Protein name

Sialin (H(+)/nitrate cotransporter) (H(+)/sialic acid cotransporter) (AST) (Membrane glycoprotein HP59) (Solute carrier family 17 member 5) (Vesicular excitatory amino acid transporter) (VEAT)

Protein function

Multifunctional anion transporter that operates via two distinct transport mechanisms, namely proton-coupled anion cotransport and membrane potential-dependent anion transport (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254).

PDB

8DWI , 8U3D , 8U3E , 8U3F , 8U3G , 8U3H , 9AYB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	46 → 441	Major Facilitator Superfamily	Family

Sequence

MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNL
SVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYI
ITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFP
AMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFST
LCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS
YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
EVQNWALNDHHGHRH

Sequence length

495

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Sialic acid metabolism Organic anion transporters Defective SLC17A5 causes Salla disease (SD) and ISSD

Associated diseases

Show/Hide Causal Diseases (11)

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986	10546100
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	21499247
Mental retardation	Intellectual Disability	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
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Salla disease	Intermediate severe Salla disease, Salla disease	rs80338794, rs119491109, rs119491110, rs80338795, rs386833987, rs386833988, rs386833989, rs386833990, rs386833991, rs386833992, rs386833993, rs386833994, rs386833995, rs386833996, rs727504157, rs727504156, rs794729653, rs1057516951, rs146095590, rs1057517111, rs1057517119, rs1057516910, rs1057516601, rs771156053, rs1057517028, rs1057516862, rs1057516419, rs1057516257, rs772039085, rs1057516528, rs1057516505, rs1057517269, rs1057516549, rs1064794334, rs769235753, rs201284672, rs868677428, rs1554162842, rs1554164078, rs1554162230, rs1440688652, rs1554161865, rs1472109408, rs1554163878, rs1554164096, rs1554163958, rs1554164322, rs777862172, rs1474077825, rs766036082, rs1768948534
Sialic acid storage disease	Infantile Sialic Acid Storage Disease, Sialic Acid Storage Disease, Finnish Type (disorder)	rs80338794, rs119491109, rs119491110, rs80338795, rs386833994, rs727504156, rs794729653, rs146095590, rs769235753, rs201284672, rs1768948534	10546100, 10947946, 10581036, 27604308, 15805149, 12592494, 25085675, 12359136, 12794688, 16715535, 15510212, 15805149, 27604308, 10581036, 24993898, 12794687, 16170568, 28662915, 12637289, 25525159, 20101035, 21781115, 10947946, 18695252, 12709150, 19557856, 11992753, 24767253, 15516337, 27848944, 23900835, 15172001
Sialuria	Sialuria	rs121908621, rs121908622, rs121908623, rs28937594, rs757523840

Show/Hide Unknown Diseases (11)

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral atrophy	Cerebral atrophy
Congenital epicanthus	Congenital Epicanthus
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia
Dysarthria	Dysarthria
Exotropia	Exotropia
Free sialic acid storage disease	Free sialic acid storage disease, infantile form
High palate	Byzanthine arch palate
Hypopigmentation disorder	Hypopigmentation disorder
Osteopenia	Osteopenia
Ptosis	Blepharoptosis, Ptosis	rs139920573

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