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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9394
Gene name	Heparan sulfate 6-O-sulfotransferase 1
Gene symbol	HS6ST1
Synonyms (NCBI Gene)	HH15HS6ST
Chromosome	2
Chromosome location	2q14.3
Summary	The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs199538589	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant

313

Show/Hide all (313)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040365	hsa-miR-615-3p	CLASH	23622248
MIRT574241	hsa-miR-5692a	PAR-CLIP	20371350
MIRT574239	hsa-miR-3185	PAR-CLIP	20371350
MIRT574240	hsa-miR-3653-3p	PAR-CLIP	20371350
MIRT574238	hsa-miR-3658	PAR-CLIP	20371350
MIRT574237	hsa-miR-7856-5p	PAR-CLIP	20371350
MIRT574241	hsa-miR-5692a	PAR-CLIP	20371350
MIRT574239	hsa-miR-3185	PAR-CLIP	20371350
MIRT574240	hsa-miR-3653-3p	PAR-CLIP	20371350
MIRT574238	hsa-miR-3658	PAR-CLIP	20371350
MIRT574237	hsa-miR-7856-5p	PAR-CLIP	20371350
MIRT1055026	hsa-miR-1267	CLIP-seq
MIRT1055027	hsa-miR-1285	CLIP-seq
MIRT1055028	hsa-miR-1292	CLIP-seq
MIRT1055029	hsa-miR-1293	CLIP-seq
MIRT1055030	hsa-miR-1297	CLIP-seq
MIRT1055031	hsa-miR-1298	CLIP-seq
MIRT1055032	hsa-miR-1321	CLIP-seq
MIRT1055033	hsa-miR-1343	CLIP-seq
MIRT1055034	hsa-miR-145	CLIP-seq
MIRT1055035	hsa-miR-1539	CLIP-seq
MIRT1055036	hsa-miR-181a	CLIP-seq
MIRT1055037	hsa-miR-181b	CLIP-seq
MIRT1055038	hsa-miR-181c	CLIP-seq
MIRT1055039	hsa-miR-181d	CLIP-seq
MIRT1055040	hsa-miR-1972	CLIP-seq
MIRT1055041	hsa-miR-2052	CLIP-seq
MIRT1055042	hsa-miR-2113	CLIP-seq
MIRT1055043	hsa-miR-2115	CLIP-seq
MIRT1055044	hsa-miR-219-1-3p	CLIP-seq
MIRT1055045	hsa-miR-2277-5p	CLIP-seq
MIRT1055046	hsa-miR-2278	CLIP-seq
MIRT1055047	hsa-miR-26a	CLIP-seq
MIRT1055048	hsa-miR-26b	CLIP-seq
MIRT1055049	hsa-miR-27a	CLIP-seq
MIRT1055050	hsa-miR-27b	CLIP-seq
MIRT1055051	hsa-miR-28-5p	CLIP-seq
MIRT1055052	hsa-miR-3139	CLIP-seq
MIRT1055053	hsa-miR-3143	CLIP-seq
MIRT1055054	hsa-miR-3144-5p	CLIP-seq
MIRT1055055	hsa-miR-3187-3p	CLIP-seq
MIRT1055056	hsa-miR-3187-5p	CLIP-seq
MIRT1055057	hsa-miR-3191	CLIP-seq
MIRT1055058	hsa-miR-323b-3p	CLIP-seq
MIRT1055059	hsa-miR-325	CLIP-seq
MIRT1055060	hsa-miR-3613-3p	CLIP-seq
MIRT1055061	hsa-miR-3667-5p	CLIP-seq
MIRT1055062	hsa-miR-3675-5p	CLIP-seq
MIRT1055063	hsa-miR-3687	CLIP-seq
MIRT1055064	hsa-miR-3940-3p	CLIP-seq
MIRT1055065	hsa-miR-3945	CLIP-seq
MIRT1055066	hsa-miR-421	CLIP-seq
MIRT1055067	hsa-miR-4252	CLIP-seq
MIRT1055068	hsa-miR-4259	CLIP-seq
MIRT1055069	hsa-miR-4262	CLIP-seq
MIRT1055070	hsa-miR-4265	CLIP-seq
MIRT1055071	hsa-miR-4269	CLIP-seq
MIRT1055072	hsa-miR-4270	CLIP-seq
MIRT1055073	hsa-miR-4277	CLIP-seq
MIRT1055074	hsa-miR-4282	CLIP-seq
MIRT1055075	hsa-miR-4296	CLIP-seq
MIRT1055076	hsa-miR-4305	CLIP-seq
MIRT1055077	hsa-miR-4312	CLIP-seq
MIRT1055078	hsa-miR-4318	CLIP-seq
MIRT1055079	hsa-miR-4322	CLIP-seq
MIRT1055080	hsa-miR-4329	CLIP-seq
MIRT1055081	hsa-miR-4417	CLIP-seq
MIRT1055082	hsa-miR-4425	CLIP-seq
MIRT1055083	hsa-miR-4436a	CLIP-seq
MIRT1055084	hsa-miR-4441	CLIP-seq
MIRT1055085	hsa-miR-4442	CLIP-seq
MIRT1055086	hsa-miR-4465	CLIP-seq
MIRT1055087	hsa-miR-4471	CLIP-seq
MIRT1055088	hsa-miR-4479	CLIP-seq
MIRT1055089	hsa-miR-4480	CLIP-seq
MIRT1055090	hsa-miR-4483	CLIP-seq
MIRT1055091	hsa-miR-4489	CLIP-seq
MIRT1055092	hsa-miR-4492	CLIP-seq
MIRT1055093	hsa-miR-4498	CLIP-seq
MIRT1055094	hsa-miR-4499	CLIP-seq
MIRT1055095	hsa-miR-4505	CLIP-seq
MIRT1055096	hsa-miR-450b-3p	CLIP-seq
MIRT1055097	hsa-miR-4529-5p	CLIP-seq
MIRT1055098	hsa-miR-4535	CLIP-seq
MIRT1055099	hsa-miR-4645-5p	CLIP-seq
MIRT1055100	hsa-miR-4646-5p	CLIP-seq
MIRT1055101	hsa-miR-4650-5p	CLIP-seq
MIRT1055102	hsa-miR-4652-5p	CLIP-seq
MIRT1055103	hsa-miR-4659a-3p	CLIP-seq
MIRT1055104	hsa-miR-4659b-3p	CLIP-seq
MIRT1055105	hsa-miR-4660	CLIP-seq
MIRT1055106	hsa-miR-4673	CLIP-seq
MIRT1055107	hsa-miR-4706	CLIP-seq
MIRT1055108	hsa-miR-4717-5p	CLIP-seq
MIRT1055109	hsa-miR-4739	CLIP-seq
MIRT1055110	hsa-miR-4747-3p	CLIP-seq
MIRT1055111	hsa-miR-4749-5p	CLIP-seq
MIRT1055112	hsa-miR-4756-5p	CLIP-seq
MIRT1055113	hsa-miR-4768-3p	CLIP-seq
MIRT1055114	hsa-miR-4776-3p	CLIP-seq
MIRT1055115	hsa-miR-4789-3p	CLIP-seq
MIRT1055116	hsa-miR-4797-5p	CLIP-seq
MIRT1055117	hsa-miR-4800-5p	CLIP-seq
MIRT1055118	hsa-miR-486-3p	CLIP-seq
MIRT1055119	hsa-miR-492	CLIP-seq
MIRT1055120	hsa-miR-512-3p	CLIP-seq
MIRT1055121	hsa-miR-513a-3p	CLIP-seq
MIRT1055122	hsa-miR-513a-5p	CLIP-seq
MIRT1055123	hsa-miR-516a-3p	CLIP-seq
MIRT1055124	hsa-miR-516a-5p	CLIP-seq
MIRT1055125	hsa-miR-543	CLIP-seq
MIRT1055126	hsa-miR-571	CLIP-seq
MIRT1055127	hsa-miR-610	CLIP-seq
MIRT1055128	hsa-miR-612	CLIP-seq
MIRT1055129	hsa-miR-635	CLIP-seq
MIRT1055130	hsa-miR-646	CLIP-seq
MIRT1055131	hsa-miR-664	CLIP-seq
MIRT1055132	hsa-miR-665	CLIP-seq
MIRT1055133	hsa-miR-708	CLIP-seq
MIRT1055134	hsa-miR-744	CLIP-seq
MIRT1055135	hsa-miR-762	CLIP-seq
MIRT1055136	hsa-miR-769-3p	CLIP-seq
MIRT1055026	hsa-miR-1267	CLIP-seq
MIRT2012505	hsa-miR-1207-5p	CLIP-seq
MIRT2012506	hsa-miR-1256	CLIP-seq
MIRT1055026	hsa-miR-1267	CLIP-seq
MIRT2012507	hsa-miR-1275	CLIP-seq
MIRT1055028	hsa-miR-1292	CLIP-seq
MIRT2012508	hsa-miR-129-5p	CLIP-seq
MIRT2012509	hsa-miR-1296	CLIP-seq
MIRT1055031	hsa-miR-1298	CLIP-seq
MIRT2012510	hsa-miR-1301	CLIP-seq
MIRT2012511	hsa-miR-135a	CLIP-seq
MIRT2012512	hsa-miR-135b	CLIP-seq
MIRT2012513	hsa-miR-146b-3p	CLIP-seq
MIRT2012514	hsa-miR-149	CLIP-seq
MIRT1055035	hsa-miR-1539	CLIP-seq
MIRT1055036	hsa-miR-181a	CLIP-seq
MIRT1055037	hsa-miR-181b	CLIP-seq
MIRT1055038	hsa-miR-181c	CLIP-seq
MIRT1055039	hsa-miR-181d	CLIP-seq
MIRT2012515	hsa-miR-1914	CLIP-seq
MIRT1055040	hsa-miR-1972	CLIP-seq
MIRT1055045	hsa-miR-2277-5p	CLIP-seq
MIRT2012516	hsa-miR-298	CLIP-seq
MIRT2012517	hsa-miR-3064-5p	CLIP-seq
MIRT2012518	hsa-miR-3119	CLIP-seq
MIRT2012519	hsa-miR-3122	CLIP-seq
MIRT2012520	hsa-miR-3140-3p	CLIP-seq
MIRT1055053	hsa-miR-3143	CLIP-seq
MIRT2012521	hsa-miR-3158-5p	CLIP-seq
MIRT2012522	hsa-miR-3173-5p	CLIP-seq
MIRT2012523	hsa-miR-3194-3p	CLIP-seq
MIRT2012524	hsa-miR-3201	CLIP-seq
MIRT1055058	hsa-miR-323b-3p	CLIP-seq
MIRT2012525	hsa-miR-3620	CLIP-seq
MIRT2012526	hsa-miR-3652	CLIP-seq
MIRT1055061	hsa-miR-3667-5p	CLIP-seq
MIRT2012527	hsa-miR-3913-5p	CLIP-seq
MIRT1055065	hsa-miR-3945	CLIP-seq
MIRT1055068	hsa-miR-4259	CLIP-seq
MIRT1055069	hsa-miR-4262	CLIP-seq
MIRT2012528	hsa-miR-4421	CLIP-seq
MIRT2012529	hsa-miR-4428	CLIP-seq
MIRT2012530	hsa-miR-4430	CLIP-seq
MIRT2012531	hsa-miR-4435	CLIP-seq
MIRT1055083	hsa-miR-4436a	CLIP-seq
MIRT2012532	hsa-miR-4455	CLIP-seq
MIRT2012533	hsa-miR-4464	CLIP-seq
MIRT1055087	hsa-miR-4471	CLIP-seq
MIRT1055088	hsa-miR-4479	CLIP-seq
MIRT1055092	hsa-miR-4492	CLIP-seq
MIRT1055093	hsa-miR-4498	CLIP-seq
MIRT1055095	hsa-miR-4505	CLIP-seq
MIRT2012534	hsa-miR-4508	CLIP-seq
MIRT1055096	hsa-miR-450b-3p	CLIP-seq
MIRT2012535	hsa-miR-4512	CLIP-seq
MIRT1055100	hsa-miR-4646-5p	CLIP-seq
MIRT1055101	hsa-miR-4650-5p	CLIP-seq
MIRT2012536	hsa-miR-4656	CLIP-seq
MIRT2012537	hsa-miR-4665-5p	CLIP-seq
MIRT2012538	hsa-miR-4676-5p	CLIP-seq
MIRT1055110	hsa-miR-4747-3p	CLIP-seq
MIRT2012539	hsa-miR-4748	CLIP-seq
MIRT2012540	hsa-miR-4755-3p	CLIP-seq
MIRT2012541	hsa-miR-4757-5p	CLIP-seq
MIRT2012542	hsa-miR-4763-3p	CLIP-seq
MIRT1055115	hsa-miR-4789-3p	CLIP-seq
MIRT2012543	hsa-miR-4791	CLIP-seq
MIRT2012544	hsa-miR-4793-5p	CLIP-seq
MIRT2012545	hsa-miR-4794	CLIP-seq
MIRT1055118	hsa-miR-486-3p	CLIP-seq
MIRT2012546	hsa-miR-5047	CLIP-seq
MIRT1055123	hsa-miR-516a-3p	CLIP-seq
MIRT1055125	hsa-miR-543	CLIP-seq
MIRT2012547	hsa-miR-564	CLIP-seq
MIRT2012548	hsa-miR-575	CLIP-seq
MIRT2012549	hsa-miR-591	CLIP-seq
MIRT2012550	hsa-miR-596	CLIP-seq
MIRT2012551	hsa-miR-605	CLIP-seq
MIRT2012552	hsa-miR-609	CLIP-seq
MIRT2012553	hsa-miR-657	CLIP-seq
MIRT1055131	hsa-miR-664	CLIP-seq
MIRT2012554	hsa-miR-671-5p	CLIP-seq
MIRT1055135	hsa-miR-762	CLIP-seq
MIRT1055136	hsa-miR-769-3p	CLIP-seq
MIRT2012555	hsa-miR-874	CLIP-seq
MIRT2012556	hsa-miR-939	CLIP-seq
MIRT2244839	hsa-miR-1202	CLIP-seq
MIRT2244840	hsa-miR-1234	CLIP-seq
MIRT1055030	hsa-miR-1297	CLIP-seq
MIRT1055033	hsa-miR-1343	CLIP-seq
MIRT1055034	hsa-miR-145	CLIP-seq
MIRT2244841	hsa-miR-1538	CLIP-seq
MIRT2244842	hsa-miR-2110	CLIP-seq
MIRT2244843	hsa-miR-22	CLIP-seq
MIRT1055047	hsa-miR-26a	CLIP-seq
MIRT1055048	hsa-miR-26b	CLIP-seq
MIRT2244844	hsa-miR-296-5p	CLIP-seq
MIRT2012520	hsa-miR-3140-3p	CLIP-seq
MIRT2244845	hsa-miR-3150a-3p	CLIP-seq
MIRT2244846	hsa-miR-3175	CLIP-seq
MIRT2244847	hsa-miR-3194-5p	CLIP-seq
MIRT2012526	hsa-miR-3652	CLIP-seq
MIRT2244848	hsa-miR-378	CLIP-seq
MIRT2244849	hsa-miR-378b	CLIP-seq
MIRT2244850	hsa-miR-378c	CLIP-seq
MIRT2244851	hsa-miR-378d	CLIP-seq
MIRT2244852	hsa-miR-378e	CLIP-seq
MIRT2244853	hsa-miR-378f	CLIP-seq
MIRT2244854	hsa-miR-378h	CLIP-seq
MIRT2244855	hsa-miR-378i	CLIP-seq
MIRT1055064	hsa-miR-3940-3p	CLIP-seq
MIRT2244856	hsa-miR-3972	CLIP-seq
MIRT2244857	hsa-miR-422a	CLIP-seq
MIRT2244858	hsa-miR-4271	CLIP-seq
MIRT2012530	hsa-miR-4430	CLIP-seq
MIRT1055086	hsa-miR-4465	CLIP-seq
MIRT1055092	hsa-miR-4492	CLIP-seq
MIRT1055093	hsa-miR-4498	CLIP-seq
MIRT2244859	hsa-miR-4632	CLIP-seq
MIRT2244860	hsa-miR-4638-3p	CLIP-seq
MIRT2244861	hsa-miR-4651	CLIP-seq
MIRT2012536	hsa-miR-4656	CLIP-seq
MIRT2244862	hsa-miR-4725-3p	CLIP-seq
MIRT2244863	hsa-miR-4745-3p	CLIP-seq
MIRT1055118	hsa-miR-486-3p	CLIP-seq
MIRT2244864	hsa-miR-491-5p	CLIP-seq
MIRT1055123	hsa-miR-516a-3p	CLIP-seq
MIRT2244865	hsa-miR-587	CLIP-seq
MIRT2012550	hsa-miR-596	CLIP-seq
MIRT2244866	hsa-miR-608	CLIP-seq
MIRT2012554	hsa-miR-671-5p	CLIP-seq
MIRT1055135	hsa-miR-762	CLIP-seq
MIRT2012556	hsa-miR-939	CLIP-seq
MIRT2012515	hsa-miR-1914	CLIP-seq
MIRT2012516	hsa-miR-298	CLIP-seq
MIRT2012521	hsa-miR-3158-5p	CLIP-seq
MIRT2389188	hsa-miR-524-3p	CLIP-seq
MIRT2389189	hsa-miR-525-3p	CLIP-seq
MIRT2451400	hsa-miR-1291	CLIP-seq
MIRT2012513	hsa-miR-146b-3p	CLIP-seq
MIRT2012522	hsa-miR-3173-5p	CLIP-seq
MIRT2012523	hsa-miR-3194-3p	CLIP-seq
MIRT2451401	hsa-miR-3612	CLIP-seq
MIRT1055064	hsa-miR-3940-3p	CLIP-seq
MIRT2451402	hsa-miR-4443	CLIP-seq
MIRT2244860	hsa-miR-4638-3p	CLIP-seq
MIRT2451403	hsa-miR-4690-3p	CLIP-seq
MIRT2451404	hsa-miR-516b	CLIP-seq
MIRT2451405	hsa-miR-650	CLIP-seq
MIRT2012555	hsa-miR-874	CLIP-seq
MIRT2547802	hsa-miR-1193	CLIP-seq
MIRT2547803	hsa-miR-1254	CLIP-seq
MIRT2547804	hsa-miR-150	CLIP-seq
MIRT2244841	hsa-miR-1538	CLIP-seq
MIRT2012515	hsa-miR-1914	CLIP-seq
MIRT1055043	hsa-miR-2115	CLIP-seq
MIRT1055044	hsa-miR-219-1-3p	CLIP-seq
MIRT2012516	hsa-miR-298	CLIP-seq
MIRT2547805	hsa-miR-3116	CLIP-seq
MIRT2012521	hsa-miR-3158-5p	CLIP-seq
MIRT1055058	hsa-miR-323b-3p	CLIP-seq
MIRT1055061	hsa-miR-3667-5p	CLIP-seq
MIRT1055064	hsa-miR-3940-3p	CLIP-seq
MIRT1055065	hsa-miR-3945	CLIP-seq
MIRT1055068	hsa-miR-4259	CLIP-seq
MIRT1055082	hsa-miR-4425	CLIP-seq
MIRT1055096	hsa-miR-450b-3p	CLIP-seq
MIRT2244860	hsa-miR-4638-3p	CLIP-seq
MIRT1055101	hsa-miR-4650-5p	CLIP-seq
MIRT2451403	hsa-miR-4690-3p	CLIP-seq
MIRT1055107	hsa-miR-4706	CLIP-seq
MIRT2244863	hsa-miR-4745-3p	CLIP-seq
MIRT1055111	hsa-miR-4749-5p	CLIP-seq
MIRT2547806	hsa-miR-4763-5p	CLIP-seq
MIRT1055115	hsa-miR-4789-3p	CLIP-seq
MIRT1055123	hsa-miR-516a-3p	CLIP-seq
MIRT2389188	hsa-miR-524-3p	CLIP-seq
MIRT2389189	hsa-miR-525-3p	CLIP-seq
MIRT1055126	hsa-miR-571	CLIP-seq
MIRT2547807	hsa-miR-661	CLIP-seq
MIRT1055134	hsa-miR-744	CLIP-seq
MIRT1055136	hsa-miR-769-3p	CLIP-seq
MIRT2244841	hsa-miR-1538	CLIP-seq
MIRT2012515	hsa-miR-1914	CLIP-seq
MIRT2012516	hsa-miR-298	CLIP-seq
MIRT2012521	hsa-miR-3158-5p	CLIP-seq
MIRT1055064	hsa-miR-3940-3p	CLIP-seq
MIRT2244860	hsa-miR-4638-3p	CLIP-seq
MIRT2451403	hsa-miR-4690-3p	CLIP-seq
MIRT2244863	hsa-miR-4745-3p	CLIP-seq
MIRT1055123	hsa-miR-516a-3p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001525	Process	Angiogenesis	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	TAS	9535912
GO:0008146	Function	Sulfotransferase activity	IEA
GO:0008146	Function	Sulfotransferase activity	TAS	9535912
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IBA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	TAS	9535912
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017095	Function	Heparan sulfate 6-sulfotransferase activity	IBA
GO:0017095	Function	Heparan sulfate 6-sulfotransferase activity	IEA
GO:0017095	Function	Heparan sulfate 6-sulfotransferase activity	TAS
GO:0048286	Process	Lung alveolus development	IEA
GO:0048666	Process	Neuron development	IMP	21700882
GO:0060716	Process	Labyrinthine layer blood vessel development	IEA

MIM	HGNC	e!Ensembl
604846	5201	ENSG00000136720

O60243

Protein name

Heparan-sulfate 6-O-sulfotransferase 1 (HS6ST-1) (EC 2.8.2.-)

Protein function

6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03567	Sulfotransfer_2	79 → 351	Sulfotransferase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal brain. {ECO:0000269|PubMed:9535912}.

Sequence

MRRRRAGGRTMVERASKFVLVVAGSVCFMLILYQYAGPGLSLGAPGGRAPPDDLDLFPTP
DPHYEKKYYFPVRELERSLRFDMKGDDVIVFLHIQKTGGTTFGRHLVQNVRLEVPCDCRP
GQKKCTCYRPNRRETWLFSRFSTGWSCGLHADWTELTNCVPGVLDRRDSAALRTPRKFYY
ITLLRDPVSRYLSEWRHVQRGATWKTSLHMCDGRTPTPEELPPCYEGTDWSGCTLQEFMD
CPYNLANNRQVRMLADLSLVGCYNLSFIPEGKRAQLLLESAKKNLRGMAFFGLTEFQRKT
QYLFERTFNLKFIRPFMQYNSTRAGGVEVDEDTIRRIEELNDLDMQLYDYAKDLFQQRYQ
YKRQLERREQRLRSREERLLHRAKEALPREDADEPGRVPTEDYMSHIIEKW

Sequence length

411

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - heparan sulfate / heparin		HS-GAG biosynthesis

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

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HS6ST1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism 15 with anosmia	Uncertain significance; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism 15 with or without anosmia	Benign; Likely benign; Uncertain significance	ClinVar CTD, ClinVar, Disgenet, GenCC CTD, ClinVar, Disgenet, GenCC CTD, ClinVar, Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism 7 with or without anosmia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (56)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37686257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	23643382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37686257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	35805171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	23962103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26631737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	26631737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26631737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	26631737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29104277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	35669683, 35805171, 38096238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	21700882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	UNIPROT_DG	21700882, 25077900		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	GENOMICS_ENGLAND_DG	23997646		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	21700882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23962103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	23962103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	21700882, 23997646		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	23533228	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mirror movements disorder	Mirror Movements	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30553836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29064910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

HS6ST1 (heparan sulfate 6-O-sulfotransferase 1)