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CHST3 (carbohydrate sulfotransferase 3)

Gene

9469

Carbohydrate sulfotransferase 3

CHST3

C6ST, C6ST1, HSD

10q22.1

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937593	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908616	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908617	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121908618	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908619	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121908620	T>C	Pathogenic	Missense variant, coding sequence variant
rs267606732	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs267606733	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs267606734	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606735	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs747171013	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs769540174	G>-,GG	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs771866012	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1057520111	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1316347883	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1416783446	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554817549	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1589509307	T>G	Pathogenic	Coding sequence variant, missense variant
rs1589509884	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589510055	GAA>-	Pathogenic	Inframe deletion, coding sequence variant

Show/Hide all(515)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023379	hsa-miR-122-5p	Microarray	17612493
MIRT027845	hsa-miR-98-5p	Microarray	19088304
MIRT659521	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT659519	hsa-miR-5695	HITS-CLIP	23824327
MIRT659520	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT659518	hsa-miR-635	HITS-CLIP	23824327
MIRT659517	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT659516	hsa-miR-6131	HITS-CLIP	23824327
MIRT659515	hsa-miR-4437	HITS-CLIP	23824327
MIRT659514	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT659513	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT659511	hsa-miR-4674	HITS-CLIP	23824327
MIRT659512	hsa-miR-1587	HITS-CLIP	23824327
MIRT659510	hsa-miR-3620-5p	HITS-CLIP	23824327
MIRT659509	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT659508	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT659521	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT659519	hsa-miR-5695	HITS-CLIP	23824327
MIRT659520	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT659518	hsa-miR-635	HITS-CLIP	23824327
MIRT659517	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT659516	hsa-miR-6131	HITS-CLIP	23824327
MIRT659515	hsa-miR-4437	HITS-CLIP	23824327
MIRT659514	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT659513	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT659511	hsa-miR-4674	HITS-CLIP	23824327
MIRT659512	hsa-miR-1587	HITS-CLIP	23824327
MIRT659510	hsa-miR-3620-5p	HITS-CLIP	23824327
MIRT659509	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT659508	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT892337	hsa-miR-1197	CLIP-seq
MIRT892338	hsa-miR-1224-3p	CLIP-seq
MIRT892339	hsa-miR-1260	CLIP-seq
MIRT892340	hsa-miR-1260b	CLIP-seq
MIRT892341	hsa-miR-1273f	CLIP-seq
MIRT892342	hsa-miR-1280	CLIP-seq
MIRT892343	hsa-miR-1284	CLIP-seq
MIRT892344	hsa-miR-1285	CLIP-seq
MIRT892345	hsa-miR-1297	CLIP-seq
MIRT892346	hsa-miR-1305	CLIP-seq
MIRT892347	hsa-miR-138	CLIP-seq
MIRT892348	hsa-miR-143	CLIP-seq
MIRT892349	hsa-miR-1913	CLIP-seq
MIRT892350	hsa-miR-2052	CLIP-seq
MIRT892351	hsa-miR-2110	CLIP-seq
MIRT892352	hsa-miR-214	CLIP-seq
MIRT892353	hsa-miR-22	CLIP-seq
MIRT892354	hsa-miR-224	CLIP-seq
MIRT892355	hsa-miR-2355-5p	CLIP-seq
MIRT892356	hsa-miR-26a	CLIP-seq
MIRT892357	hsa-miR-26b	CLIP-seq
MIRT892358	hsa-miR-2861	CLIP-seq
MIRT892359	hsa-miR-298	CLIP-seq
MIRT892360	hsa-miR-3064-5p	CLIP-seq
MIRT892361	hsa-miR-3074-5p	CLIP-seq
MIRT892362	hsa-miR-3127-5p	CLIP-seq
MIRT892363	hsa-miR-3135b	CLIP-seq
MIRT892364	hsa-miR-3136-3p	CLIP-seq
MIRT892365	hsa-miR-3150a-3p	CLIP-seq
MIRT892366	hsa-miR-3155	CLIP-seq
MIRT892367	hsa-miR-3155b	CLIP-seq
MIRT892368	hsa-miR-3175	CLIP-seq
MIRT892369	hsa-miR-3187-5p	CLIP-seq
MIRT892370	hsa-miR-3189-5p	CLIP-seq
MIRT892371	hsa-miR-3194-5p	CLIP-seq
MIRT892372	hsa-miR-3197	CLIP-seq
MIRT892373	hsa-miR-324-3p	CLIP-seq
MIRT892374	hsa-miR-328	CLIP-seq
MIRT892375	hsa-miR-342-5p	CLIP-seq
MIRT892376	hsa-miR-3619-5p	CLIP-seq
MIRT892377	hsa-miR-3652	CLIP-seq
MIRT892378	hsa-miR-3653	CLIP-seq
MIRT892379	hsa-miR-3679-3p	CLIP-seq
MIRT892380	hsa-miR-370	CLIP-seq
MIRT892381	hsa-miR-378g	CLIP-seq
MIRT892382	hsa-miR-3921	CLIP-seq
MIRT892383	hsa-miR-4268	CLIP-seq
MIRT892384	hsa-miR-4271	CLIP-seq
MIRT892385	hsa-miR-4286	CLIP-seq
MIRT892386	hsa-miR-4291	CLIP-seq
MIRT892387	hsa-miR-4301	CLIP-seq
MIRT892388	hsa-miR-4302	CLIP-seq
MIRT892389	hsa-miR-4314	CLIP-seq
MIRT892390	hsa-miR-4419a	CLIP-seq
MIRT892391	hsa-miR-4430	CLIP-seq
MIRT892392	hsa-miR-4433	CLIP-seq
MIRT892393	hsa-miR-4436a	CLIP-seq
MIRT892394	hsa-miR-4438	CLIP-seq
MIRT892395	hsa-miR-4446-5p	CLIP-seq
MIRT892396	hsa-miR-4459	CLIP-seq
MIRT892397	hsa-miR-4465	CLIP-seq
MIRT892398	hsa-miR-4485	CLIP-seq
MIRT892399	hsa-miR-4486	CLIP-seq
MIRT892400	hsa-miR-4503	CLIP-seq
MIRT892401	hsa-miR-4505	CLIP-seq
MIRT892402	hsa-miR-4510	CLIP-seq
MIRT892403	hsa-miR-4519	CLIP-seq
MIRT892404	hsa-miR-4529-5p	CLIP-seq
MIRT892405	hsa-miR-4534	CLIP-seq
MIRT892406	hsa-miR-4649-3p	CLIP-seq
MIRT892407	hsa-miR-4650-5p	CLIP-seq
MIRT892408	hsa-miR-4652-3p	CLIP-seq
MIRT892409	hsa-miR-4653-5p	CLIP-seq
MIRT892410	hsa-miR-4664-5p	CLIP-seq
MIRT892411	hsa-miR-4667-5p	CLIP-seq
MIRT892412	hsa-miR-4700-5p	CLIP-seq
MIRT892413	hsa-miR-4708-5p	CLIP-seq
MIRT892414	hsa-miR-4714-3p	CLIP-seq
MIRT892415	hsa-miR-4717-3p	CLIP-seq
MIRT892416	hsa-miR-4717-5p	CLIP-seq
MIRT892417	hsa-miR-4722-3p	CLIP-seq
MIRT892418	hsa-miR-4725-3p	CLIP-seq
MIRT892419	hsa-miR-4731-5p	CLIP-seq
MIRT892420	hsa-miR-4755-3p	CLIP-seq
MIRT892421	hsa-miR-4757-5p	CLIP-seq
MIRT892422	hsa-miR-4758-3p	CLIP-seq
MIRT892423	hsa-miR-4763-5p	CLIP-seq
MIRT892424	hsa-miR-4768-3p	CLIP-seq
MIRT892425	hsa-miR-4770	CLIP-seq
MIRT892426	hsa-miR-4779	CLIP-seq
MIRT892427	hsa-miR-4796-5p	CLIP-seq
MIRT892428	hsa-miR-484	CLIP-seq
MIRT892429	hsa-miR-485-5p	CLIP-seq
MIRT892430	hsa-miR-491-5p	CLIP-seq
MIRT892431	hsa-miR-498	CLIP-seq
MIRT892432	hsa-miR-516a-3p	CLIP-seq
MIRT892433	hsa-miR-519a	CLIP-seq
MIRT892434	hsa-miR-519b-3p	CLIP-seq
MIRT892435	hsa-miR-519c-3p	CLIP-seq
MIRT892436	hsa-miR-532-3p	CLIP-seq
MIRT892437	hsa-miR-548p	CLIP-seq
MIRT892438	hsa-miR-603	CLIP-seq
MIRT892439	hsa-miR-612	CLIP-seq
MIRT892440	hsa-miR-646	CLIP-seq
MIRT892441	hsa-miR-647	CLIP-seq
MIRT892442	hsa-miR-648	CLIP-seq
MIRT892443	hsa-miR-654-3p	CLIP-seq
MIRT892444	hsa-miR-7	CLIP-seq
MIRT892445	hsa-miR-761	CLIP-seq
MIRT892446	hsa-miR-922	CLIP-seq
MIRT892447	hsa-miR-939	CLIP-seq
MIRT1546434	hsa-miR-1304	CLIP-seq
MIRT1546435	hsa-miR-4685-5p	CLIP-seq
MIRT1964450	hsa-let-7a	CLIP-seq
MIRT1964451	hsa-let-7b	CLIP-seq
MIRT1964452	hsa-let-7c	CLIP-seq
MIRT1964453	hsa-let-7d	CLIP-seq
MIRT1964454	hsa-let-7e	CLIP-seq
MIRT1964455	hsa-let-7f	CLIP-seq
MIRT1964456	hsa-let-7g	CLIP-seq
MIRT1964457	hsa-let-7i	CLIP-seq
MIRT892337	hsa-miR-1197	CLIP-seq
MIRT1964458	hsa-miR-1224-5p	CLIP-seq
MIRT1964459	hsa-miR-1225-3p	CLIP-seq
MIRT1964460	hsa-miR-1233	CLIP-seq
MIRT1964461	hsa-miR-1236	CLIP-seq
MIRT1964462	hsa-miR-1237	CLIP-seq
MIRT1964463	hsa-miR-1288	CLIP-seq
MIRT1964464	hsa-miR-1291	CLIP-seq
MIRT892345	hsa-miR-1297	CLIP-seq
MIRT1546434	hsa-miR-1304	CLIP-seq
MIRT892346	hsa-miR-1305	CLIP-seq
MIRT1964465	hsa-miR-1343	CLIP-seq
MIRT1964466	hsa-miR-1915	CLIP-seq
MIRT1964467	hsa-miR-2053	CLIP-seq
MIRT1964468	hsa-miR-219-5p	CLIP-seq
MIRT892354	hsa-miR-224	CLIP-seq
MIRT892355	hsa-miR-2355-5p	CLIP-seq
MIRT1964469	hsa-miR-23a	CLIP-seq
MIRT1964470	hsa-miR-23b	CLIP-seq
MIRT1964471	hsa-miR-23c	CLIP-seq
MIRT892356	hsa-miR-26a	CLIP-seq
MIRT892357	hsa-miR-26b	CLIP-seq
MIRT892360	hsa-miR-3064-5p	CLIP-seq
MIRT1964472	hsa-miR-3120-3p	CLIP-seq
MIRT1964473	hsa-miR-3120-5p	CLIP-seq
MIRT1964474	hsa-miR-3127-3p	CLIP-seq
MIRT1964475	hsa-miR-3171	CLIP-seq
MIRT1964476	hsa-miR-3915	CLIP-seq
MIRT1964477	hsa-miR-3918	CLIP-seq
MIRT1964478	hsa-miR-3920	CLIP-seq
MIRT1964479	hsa-miR-3940-5p	CLIP-seq
MIRT1964480	hsa-miR-4259	CLIP-seq
MIRT892383	hsa-miR-4268	CLIP-seq
MIRT1964481	hsa-miR-4312	CLIP-seq
MIRT1964482	hsa-miR-4323	CLIP-seq
MIRT892392	hsa-miR-4433	CLIP-seq
MIRT1964483	hsa-miR-4445	CLIP-seq
MIRT892395	hsa-miR-4446-5p	CLIP-seq
MIRT1964484	hsa-miR-4448	CLIP-seq
MIRT1964485	hsa-miR-4458	CLIP-seq
MIRT892396	hsa-miR-4459	CLIP-seq
MIRT892397	hsa-miR-4465	CLIP-seq
MIRT1964486	hsa-miR-4476	CLIP-seq
MIRT1964487	hsa-miR-4500	CLIP-seq
MIRT1964488	hsa-miR-4507	CLIP-seq
MIRT1964489	hsa-miR-4521	CLIP-seq
MIRT892404	hsa-miR-4529-5p	CLIP-seq
MIRT892408	hsa-miR-4652-3p	CLIP-seq
MIRT1964490	hsa-miR-4663	CLIP-seq
MIRT1964491	hsa-miR-4689	CLIP-seq
MIRT892416	hsa-miR-4717-5p	CLIP-seq
MIRT892417	hsa-miR-4722-3p	CLIP-seq
MIRT1964492	hsa-miR-4751	CLIP-seq
MIRT1964493	hsa-miR-4762-3p	CLIP-seq
MIRT892423	hsa-miR-4763-5p	CLIP-seq
MIRT892424	hsa-miR-4768-3p	CLIP-seq
MIRT1964494	hsa-miR-4782-3p	CLIP-seq
MIRT1964495	hsa-miR-494	CLIP-seq
MIRT1964496	hsa-miR-508-3p	CLIP-seq
MIRT1964497	hsa-miR-571	CLIP-seq
MIRT1964498	hsa-miR-592	CLIP-seq
MIRT1964499	hsa-miR-597	CLIP-seq
MIRT1964500	hsa-miR-607	CLIP-seq
MIRT1964501	hsa-miR-629	CLIP-seq
MIRT1964502	hsa-miR-642a	CLIP-seq
MIRT892443	hsa-miR-654-3p	CLIP-seq
MIRT1964503	hsa-miR-664	CLIP-seq
MIRT1964504	hsa-miR-767-3p	CLIP-seq
MIRT1964505	hsa-miR-892b	CLIP-seq
MIRT1964506	hsa-miR-98	CLIP-seq
MIRT1964450	hsa-let-7a	CLIP-seq
MIRT1964451	hsa-let-7b	CLIP-seq
MIRT1964452	hsa-let-7c	CLIP-seq
MIRT1964453	hsa-let-7d	CLIP-seq
MIRT1964454	hsa-let-7e	CLIP-seq
MIRT1964455	hsa-let-7f	CLIP-seq
MIRT1964456	hsa-let-7g	CLIP-seq
MIRT1964457	hsa-let-7i	CLIP-seq
MIRT2200593	hsa-miR-1202	CLIP-seq
MIRT892338	hsa-miR-1224-3p	CLIP-seq
MIRT1964459	hsa-miR-1225-3p	CLIP-seq
MIRT2200594	hsa-miR-1225-5p	CLIP-seq
MIRT2200595	hsa-miR-1228	CLIP-seq
MIRT1964460	hsa-miR-1233	CLIP-seq
MIRT2200596	hsa-miR-1245b-5p	CLIP-seq
MIRT892339	hsa-miR-1260	CLIP-seq
MIRT892340	hsa-miR-1260b	CLIP-seq
MIRT2200597	hsa-miR-1266	CLIP-seq
MIRT2200598	hsa-miR-1269	CLIP-seq
MIRT2200599	hsa-miR-1269b	CLIP-seq
MIRT2200600	hsa-miR-1276	CLIP-seq
MIRT892342	hsa-miR-1280	CLIP-seq
MIRT1964464	hsa-miR-1291	CLIP-seq
MIRT892345	hsa-miR-1297	CLIP-seq
MIRT1546434	hsa-miR-1304	CLIP-seq
MIRT2200601	hsa-miR-1321	CLIP-seq
MIRT2200602	hsa-miR-15a	CLIP-seq
MIRT2200603	hsa-miR-15b	CLIP-seq
MIRT2200604	hsa-miR-16	CLIP-seq
MIRT892349	hsa-miR-1913	CLIP-seq
MIRT1964466	hsa-miR-1915	CLIP-seq
MIRT2200605	hsa-miR-195	CLIP-seq
MIRT2200606	hsa-miR-197	CLIP-seq
MIRT2200607	hsa-miR-202	CLIP-seq
MIRT892351	hsa-miR-2110	CLIP-seq
MIRT2200608	hsa-miR-2113	CLIP-seq
MIRT2200609	hsa-miR-2115	CLIP-seq
MIRT2200610	hsa-miR-218	CLIP-seq
MIRT892354	hsa-miR-224	CLIP-seq
MIRT2200611	hsa-miR-2278	CLIP-seq
MIRT892355	hsa-miR-2355-5p	CLIP-seq
MIRT2200612	hsa-miR-2467-3p	CLIP-seq
MIRT892356	hsa-miR-26a	CLIP-seq
MIRT892357	hsa-miR-26b	CLIP-seq
MIRT892360	hsa-miR-3064-5p	CLIP-seq
MIRT2200613	hsa-miR-3065-5p	CLIP-seq
MIRT2200614	hsa-miR-30a	CLIP-seq
MIRT2200615	hsa-miR-30b	CLIP-seq
MIRT2200616	hsa-miR-30c	CLIP-seq
MIRT2200617	hsa-miR-30d	CLIP-seq
MIRT2200618	hsa-miR-30e	CLIP-seq
MIRT1964472	hsa-miR-3120-3p	CLIP-seq
MIRT2200619	hsa-miR-3124-3p	CLIP-seq
MIRT892364	hsa-miR-3136-3p	CLIP-seq
MIRT2200620	hsa-miR-3140-3p	CLIP-seq
MIRT2200621	hsa-miR-3142	CLIP-seq
MIRT1964475	hsa-miR-3171	CLIP-seq
MIRT2200622	hsa-miR-3183	CLIP-seq
MIRT2200623	hsa-miR-3184	CLIP-seq
MIRT892371	hsa-miR-3194-5p	CLIP-seq
MIRT892373	hsa-miR-324-3p	CLIP-seq
MIRT892374	hsa-miR-328	CLIP-seq
MIRT2200624	hsa-miR-330-3p	CLIP-seq
MIRT2200625	hsa-miR-3664-3p	CLIP-seq
MIRT2200626	hsa-miR-3664-5p	CLIP-seq
MIRT2200627	hsa-miR-374c	CLIP-seq
MIRT1964479	hsa-miR-3940-5p	CLIP-seq
MIRT2200628	hsa-miR-3972	CLIP-seq
MIRT2200629	hsa-miR-412	CLIP-seq
MIRT2200630	hsa-miR-423-5p	CLIP-seq
MIRT2200631	hsa-miR-424	CLIP-seq
MIRT2200632	hsa-miR-4252	CLIP-seq
MIRT2200633	hsa-miR-4257	CLIP-seq
MIRT1964480	hsa-miR-4259	CLIP-seq
MIRT2200634	hsa-miR-4267	CLIP-seq
MIRT2200635	hsa-miR-4270	CLIP-seq
MIRT892384	hsa-miR-4271	CLIP-seq
MIRT2200636	hsa-miR-4283	CLIP-seq
MIRT2200637	hsa-miR-4311	CLIP-seq
MIRT2200638	hsa-miR-4313	CLIP-seq
MIRT1964482	hsa-miR-4323	CLIP-seq
MIRT2200639	hsa-miR-4330	CLIP-seq
MIRT892392	hsa-miR-4433	CLIP-seq
MIRT2200640	hsa-miR-4436b-5p	CLIP-seq
MIRT2200641	hsa-miR-4441	CLIP-seq
MIRT2200642	hsa-miR-4446-3p	CLIP-seq
MIRT892395	hsa-miR-4446-5p	CLIP-seq
MIRT1964485	hsa-miR-4458	CLIP-seq
MIRT892396	hsa-miR-4459	CLIP-seq
MIRT892397	hsa-miR-4465	CLIP-seq
MIRT2200643	hsa-miR-4469	CLIP-seq
MIRT2200644	hsa-miR-4481	CLIP-seq
MIRT2200645	hsa-miR-4489	CLIP-seq
MIRT2200646	hsa-miR-4493	CLIP-seq
MIRT1964487	hsa-miR-4500	CLIP-seq
MIRT892401	hsa-miR-4505	CLIP-seq
MIRT1964488	hsa-miR-4507	CLIP-seq
MIRT2200647	hsa-miR-4518	CLIP-seq
MIRT2200648	hsa-miR-4529-3p	CLIP-seq
MIRT892404	hsa-miR-4529-5p	CLIP-seq
MIRT2200649	hsa-miR-4649-5p	CLIP-seq
MIRT2200650	hsa-miR-4656	CLIP-seq
MIRT2200651	hsa-miR-4659a-3p	CLIP-seq
MIRT2200652	hsa-miR-4659b-3p	CLIP-seq
MIRT1964490	hsa-miR-4663	CLIP-seq
MIRT2200653	hsa-miR-4690-3p	CLIP-seq
MIRT2200654	hsa-miR-4691-3p	CLIP-seq
MIRT892416	hsa-miR-4717-5p	CLIP-seq
MIRT2200655	hsa-miR-4723-3p	CLIP-seq
MIRT892418	hsa-miR-4725-3p	CLIP-seq
MIRT2200656	hsa-miR-4728-5p	CLIP-seq
MIRT892419	hsa-miR-4731-5p	CLIP-seq
MIRT2200657	hsa-miR-4732-3p	CLIP-seq
MIRT2200658	hsa-miR-4739	CLIP-seq
MIRT2200659	hsa-miR-4745-5p	CLIP-seq
MIRT2200660	hsa-miR-4747-5p	CLIP-seq
MIRT2200661	hsa-miR-4756-5p	CLIP-seq
MIRT892421	hsa-miR-4757-5p	CLIP-seq
MIRT892424	hsa-miR-4768-3p	CLIP-seq
MIRT2200662	hsa-miR-4778-3p	CLIP-seq
MIRT892430	hsa-miR-491-5p	CLIP-seq
MIRT2200663	hsa-miR-497	CLIP-seq
MIRT2200664	hsa-miR-526b	CLIP-seq
MIRT892436	hsa-miR-532-3p	CLIP-seq
MIRT892437	hsa-miR-548p	CLIP-seq
MIRT1964497	hsa-miR-571	CLIP-seq
MIRT2200665	hsa-miR-578	CLIP-seq
MIRT2200666	hsa-miR-583	CLIP-seq
MIRT2200667	hsa-miR-593	CLIP-seq
MIRT2200668	hsa-miR-604	CLIP-seq
MIRT2200669	hsa-miR-636	CLIP-seq
MIRT1964502	hsa-miR-642a	CLIP-seq
MIRT892440	hsa-miR-646	CLIP-seq
MIRT892441	hsa-miR-647	CLIP-seq
MIRT2200670	hsa-miR-655	CLIP-seq
MIRT2200671	hsa-miR-942	CLIP-seq
MIRT1964506	hsa-miR-98	CLIP-seq
MIRT2200593	hsa-miR-1202	CLIP-seq
MIRT1964459	hsa-miR-1225-3p	CLIP-seq
MIRT2200594	hsa-miR-1225-5p	CLIP-seq
MIRT1964460	hsa-miR-1233	CLIP-seq
MIRT2386078	hsa-miR-1265	CLIP-seq
MIRT1964464	hsa-miR-1291	CLIP-seq
MIRT1964466	hsa-miR-1915	CLIP-seq
MIRT892371	hsa-miR-3194-5p	CLIP-seq
MIRT892372	hsa-miR-3197	CLIP-seq
MIRT2200624	hsa-miR-330-3p	CLIP-seq
MIRT2200626	hsa-miR-3664-5p	CLIP-seq
MIRT2386079	hsa-miR-3671	CLIP-seq
MIRT2386080	hsa-miR-3691-5p	CLIP-seq
MIRT2200628	hsa-miR-3972	CLIP-seq
MIRT1964482	hsa-miR-4323	CLIP-seq
MIRT2386081	hsa-miR-4456	CLIP-seq
MIRT2386082	hsa-miR-4491	CLIP-seq
MIRT2386083	hsa-miR-4530	CLIP-seq
MIRT892407	hsa-miR-4650-5p	CLIP-seq
MIRT2386084	hsa-miR-4657	CLIP-seq
MIRT2386085	hsa-miR-4660	CLIP-seq
MIRT1964490	hsa-miR-4663	CLIP-seq
MIRT892417	hsa-miR-4722-3p	CLIP-seq
MIRT2386086	hsa-miR-4752	CLIP-seq
MIRT892423	hsa-miR-4763-5p	CLIP-seq
MIRT2386087	hsa-miR-4764-5p	CLIP-seq
MIRT2386088	hsa-miR-542-3p	CLIP-seq
MIRT892440	hsa-miR-646	CLIP-seq
MIRT892444	hsa-miR-7	CLIP-seq
MIRT2436247	hsa-miR-3943	CLIP-seq
MIRT1964482	hsa-miR-4323	CLIP-seq
MIRT2436248	hsa-miR-4667-3p	CLIP-seq
MIRT2436249	hsa-miR-4691-5p	CLIP-seq
MIRT2436250	hsa-miR-4749-3p	CLIP-seq
MIRT2436251	hsa-miR-676	CLIP-seq
MIRT892353	hsa-miR-22	CLIP-seq
MIRT2447038	hsa-miR-3152-5p	CLIP-seq
MIRT2447039	hsa-miR-3160-3p	CLIP-seq
MIRT2447040	hsa-miR-4487	CLIP-seq
MIRT1546435	hsa-miR-4685-5p	CLIP-seq
MIRT2447041	hsa-miR-4774-3p	CLIP-seq
MIRT2447042	hsa-miR-558	CLIP-seq
MIRT2503382	hsa-miR-1184	CLIP-seq
MIRT1964460	hsa-miR-1233	CLIP-seq
MIRT2503383	hsa-miR-1254	CLIP-seq
MIRT2503384	hsa-miR-125a-3p	CLIP-seq
MIRT892341	hsa-miR-1273f	CLIP-seq
MIRT2503385	hsa-miR-149	CLIP-seq
MIRT2503386	hsa-miR-219-1-3p	CLIP-seq
MIRT2503387	hsa-miR-2355-3p	CLIP-seq
MIRT892360	hsa-miR-3064-5p	CLIP-seq
MIRT2503388	hsa-miR-3116	CLIP-seq
MIRT2503389	hsa-miR-3126-3p	CLIP-seq
MIRT2503390	hsa-miR-3153	CLIP-seq
MIRT2200625	hsa-miR-3664-3p	CLIP-seq
MIRT2503391	hsa-miR-3689a-3p	CLIP-seq
MIRT2503392	hsa-miR-3689c	CLIP-seq
MIRT2503393	hsa-miR-3690	CLIP-seq
MIRT2503394	hsa-miR-4287	CLIP-seq
MIRT2503395	hsa-miR-4290	CLIP-seq
MIRT2503396	hsa-miR-4308	CLIP-seq
MIRT1964481	hsa-miR-4312	CLIP-seq
MIRT2503397	hsa-miR-4418	CLIP-seq
MIRT892390	hsa-miR-4419a	CLIP-seq
MIRT892392	hsa-miR-4433	CLIP-seq
MIRT2503398	hsa-miR-4434	CLIP-seq
MIRT2503399	hsa-miR-4440	CLIP-seq
MIRT2503400	hsa-miR-4457	CLIP-seq
MIRT892396	hsa-miR-4459	CLIP-seq
MIRT2200643	hsa-miR-4469	CLIP-seq
MIRT1964486	hsa-miR-4476	CLIP-seq
MIRT892402	hsa-miR-4510	CLIP-seq
MIRT2503401	hsa-miR-4516	CLIP-seq
MIRT2503402	hsa-miR-4685-3p	CLIP-seq
MIRT2200656	hsa-miR-4728-5p	CLIP-seq
MIRT2503403	hsa-miR-4738-3p	CLIP-seq
MIRT2503404	hsa-miR-4756-3p	CLIP-seq
MIRT892424	hsa-miR-4768-3p	CLIP-seq
MIRT2503405	hsa-miR-4794	CLIP-seq
MIRT2503406	hsa-miR-509-3-5p	CLIP-seq
MIRT2503407	hsa-miR-509-5p	CLIP-seq
MIRT2503408	hsa-miR-510	CLIP-seq
MIRT2503409	hsa-miR-513b	CLIP-seq
MIRT2503410	hsa-miR-548q	CLIP-seq
MIRT2503411	hsa-miR-552	CLIP-seq
MIRT2200668	hsa-miR-604	CLIP-seq
MIRT892441	hsa-miR-647	CLIP-seq
MIRT2503412	hsa-miR-651	CLIP-seq
MIRT2503413	hsa-miR-661	CLIP-seq
MIRT2503414	hsa-miR-671-5p	CLIP-seq
MIRT2436251	hsa-miR-676	CLIP-seq
MIRT2503415	hsa-miR-711	CLIP-seq
MIRT2503382	hsa-miR-1184	CLIP-seq
MIRT2678182	hsa-miR-1185	CLIP-seq
MIRT2200596	hsa-miR-1245b-5p	CLIP-seq
MIRT2503383	hsa-miR-1254	CLIP-seq
MIRT2503384	hsa-miR-125a-3p	CLIP-seq
MIRT892341	hsa-miR-1273f	CLIP-seq
MIRT2678183	hsa-miR-1294	CLIP-seq
MIRT2678184	hsa-miR-140-3p	CLIP-seq
MIRT2678185	hsa-miR-1470	CLIP-seq
MIRT2503385	hsa-miR-149	CLIP-seq
MIRT2503386	hsa-miR-219-1-3p	CLIP-seq
MIRT2503387	hsa-miR-2355-3p	CLIP-seq
MIRT892355	hsa-miR-2355-5p	CLIP-seq
MIRT2678186	hsa-miR-2392	CLIP-seq
MIRT892360	hsa-miR-3064-5p	CLIP-seq
MIRT2503388	hsa-miR-3116	CLIP-seq
MIRT2503389	hsa-miR-3126-3p	CLIP-seq
MIRT2678187	hsa-miR-3137	CLIP-seq
MIRT2200621	hsa-miR-3142	CLIP-seq
MIRT2503390	hsa-miR-3153	CLIP-seq
MIRT2678188	hsa-miR-3605-5p	CLIP-seq
MIRT2678189	hsa-miR-3679-5p	CLIP-seq
MIRT2503391	hsa-miR-3689a-3p	CLIP-seq
MIRT2503392	hsa-miR-3689c	CLIP-seq
MIRT2503393	hsa-miR-3690	CLIP-seq
MIRT2503394	hsa-miR-4287	CLIP-seq
MIRT2503396	hsa-miR-4308	CLIP-seq
MIRT1964481	hsa-miR-4312	CLIP-seq
MIRT2200638	hsa-miR-4313	CLIP-seq
MIRT2678190	hsa-miR-4316	CLIP-seq
MIRT2503397	hsa-miR-4418	CLIP-seq
MIRT892390	hsa-miR-4419a	CLIP-seq
MIRT2503398	hsa-miR-4434	CLIP-seq
MIRT2503399	hsa-miR-4440	CLIP-seq
MIRT2503400	hsa-miR-4457	CLIP-seq
MIRT2200643	hsa-miR-4469	CLIP-seq
MIRT1964486	hsa-miR-4476	CLIP-seq
MIRT892402	hsa-miR-4510	CLIP-seq
MIRT2503401	hsa-miR-4516	CLIP-seq
MIRT2678191	hsa-miR-4677-3p	CLIP-seq
MIRT2503402	hsa-miR-4685-3p	CLIP-seq
MIRT892417	hsa-miR-4722-3p	CLIP-seq
MIRT2678192	hsa-miR-4727-5p	CLIP-seq
MIRT2200656	hsa-miR-4728-5p	CLIP-seq
MIRT2503403	hsa-miR-4738-3p	CLIP-seq
MIRT2436250	hsa-miR-4749-3p	CLIP-seq
MIRT2503404	hsa-miR-4756-3p	CLIP-seq
MIRT892423	hsa-miR-4763-5p	CLIP-seq
MIRT2503405	hsa-miR-4794	CLIP-seq
MIRT2503406	hsa-miR-509-3-5p	CLIP-seq
MIRT2503407	hsa-miR-509-5p	CLIP-seq
MIRT2503409	hsa-miR-513b	CLIP-seq
MIRT2503411	hsa-miR-552	CLIP-seq
MIRT2678193	hsa-miR-556-5p	CLIP-seq
MIRT2678194	hsa-miR-566	CLIP-seq
MIRT2200668	hsa-miR-604	CLIP-seq
MIRT2678195	hsa-miR-610	CLIP-seq
MIRT892441	hsa-miR-647	CLIP-seq
MIRT2503412	hsa-miR-651	CLIP-seq
MIRT2678196	hsa-miR-652	CLIP-seq
MIRT892443	hsa-miR-654-3p	CLIP-seq
MIRT2503413	hsa-miR-661	CLIP-seq
MIRT2503414	hsa-miR-671-5p	CLIP-seq
MIRT2436251	hsa-miR-676	CLIP-seq
MIRT2503415	hsa-miR-711	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001517	Function	N-acetylglucosamine 6-O-sulfotransferase activity	IBA	21873635
GO:0005802	Component	Trans-Golgi network	IBA	21873635
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006044	Process	N-acetylglucosamine metabolic process	IBA	21873635
GO:0006790	Process	Sulfur compound metabolic process	IBA	21873635
GO:0006790	Process	Sulfur compound metabolic process	IDA	9883891
GO:0008146	Function	Sulfotransferase activity	TAS	9883891
GO:0008459	Function	Chondroitin 6-sulfotransferase activity	IBA	21873635
GO:0008459	Function	Chondroitin 6-sulfotransferase activity	IDA	9883891
GO:0016021	Component	Integral component of membrane	IEA
GO:0030206	Process	Chondroitin sulfate biosynthetic process	IBA	21873635
GO:0030206	Process	Chondroitin sulfate biosynthetic process	IDA	9883891
GO:0030206	Process	Chondroitin sulfate biosynthetic process	TAS

MIM	HGNC	e!Ensembl
603799	1971	ENSG00000122863

Protein

UniProt ID

Q7LGC8

Protein name

Carbohydrate sulfotransferase 3 (EC 2.8.2.17) (EC 2.8.2.21) (Chondroitin 6-O-sulfotransferase 1) (C6ST-1) (Chondroitin 6-sulfotransferase) (C6ST) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0) (GST-0)

Protein function

Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:15215498, PubMed:9714738, PubMed:98838

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00685	Sulfotransfer_1	132 → 452	Sulfotransferase domain	Domain

Sequence

MEKGLTLPQDCRDFVHSLKMRSKYALFLVFVVIVFVFIEKENKIISRVSDKLKQIPQALA
DANSTDPALILAENASLLSLSELDSAFSQLQSRLRNLSLQLGVEPAMEAAGEEEEEQRKE
EEPPRPAVAGPRRHVLLMATTRTGSSFVGEFFNQQGNIFYLFEPLWHIERTVSFEPGGAN
AAGSALVYRDVLKQLFLCDLYVLEHFITPLPEDHLTQFMFRRGSSRSLCEDPVCTPFVKK
VFEKYHCKNRRCGPLNVTLAAEACRRKEHMALKAVRIRQLEFLQPLAEDPRLDLRVIQLV
RDPRAVLASRMVAFAGKYKTWKKWLDDEGQDGLREEEVQRLRGNCESIRLSAELGLRQPA
WLRGRYMLVRYEDVARGPLQKAREMYRFAGIPLTPQVEDWIQKNTQAAHDGSGIYSTQKN
SSEQFEKWRFSMPFKLAQVVQAACGPAMRLFGYKLARDAAALTNRSVSLLEERGTFWVT

Sequence length

479

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate		Chondroitin sulfate biosynthesis Defective CHST3 causes SEDCJD

Associated diseases

Show/Hide Causal Diseases (22)

Causal
Disease name	Disease term	dbSNP ID	References
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322
Developmental delay	Gross motor development 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
Glaucoma	Glaucoma of childhood	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Larsen syndrome	Larsen syndrome, recessive type, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	rs80356506, rs80356513, rs80356508, rs80356503, rs28933068, rs80356511, rs80356516, rs387906937, rs80356504, rs879255269, rs372487178, rs794727854, rs1553704446, rs377340567, rs868820857, rs1589510055	20830804
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037
Melnick-needles syndrome	Melnick-Needles Syndrome	rs28935472, rs28935473	30200136
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939	30200136
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061	30200136
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Schwartz-jampel syndrome	Schwartz-Jampel Syndrome	rs886039909, rs927473035, rs1572304438, rs1572356343	30200136
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	CHST3-related skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098
Spondyloenchondrodysplasia	Spondyloepiphyseal Dysplasia Tarda, X-Linked, Spondyloepiphyseal dysplasia, Omani type	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246	30200136, 20830804, 18513679, 15215498, 27604308
Spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia, congenita	rs1555164872, rs121912870, rs121912874, rs121912883, rs864621973, rs886042651, rs886042849, rs1085307657, rs1555168505, rs1025202963, rs1555167783, rs1565679062, rs1939205327
Spondyloepiphyseal dysplasia	Spondyloepiphyseal Dysplasia	rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099, rs869312907, rs886041895, rs760093841, rs374379931, rs1471554906, rs1567185220, rs1567186585, rs1592198747, rs1239366051, rs1592197682	30200136
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (31)

Unknown
Disease name	Disease term	dbSNP ID	References
Cubitus valgus	Acquired cubitus valgus
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Aortic valve insufficiency	Aortic Valve Insufficiency
Aortic valve sclerosis	Aortic Valve Stenosis
Arthropathy	Arthropathy
Brachycephaly	Brachycephaly
Chondrodystrophic myotonia	Schwartz-Jampel Syndrome, Type 1		30200136
Talipes equinovalgus	Talipes Equinovalgus
Congenital clubfoot	Congenital clubfoot
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Dwarfism	Dwarfism
Dyschondroplasias	Dyschondroplasias		30200136
Elbow flexion contracture	Flexion contracture - elbow
Esotropia	Esotropia
Frontal bossing	Frontal bossing
Glaucoma, congenital	Hydrophthalmos
High palate	Byzanthine arch palate
Hyperopia	Hyperopia
Microdontia	Microdontia (disorder)
Microstomia	Microstomia
Microtia	Congenital small ears
Mitral valve stenosis	Mitral Valve Stenosis
Motor delay	Clumsiness - motor delay
Osteopenia	Osteopenia
Patent foramen ovale	Foramen Ovale, Patent
Pulmonary stenosis	Pulmonary Stenosis
Rhizomelia	Rhizomelia
Tricuspid valve insufficiency	Tricuspid Valve Insufficiency
Tricuspid valve stenosis	Tricuspid Valve Stenosis
Van buchem disease	Van Buchem disease		30200136
Ventricular hypertrophy	Ventricular hypertrophy

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