HS6ST1 (heparan sulfate 6-O-sulfotransferase 1)

Gene

• Entrez ID: 9394
• Gene name: Heparan sulfate 6-O-sulfotransferase 1
• Gene symbol: HS6ST1
• Synonyms (NCBI Gene): HH15, HS6ST
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 604846
• HGNC: 5201
• e!Ensembl: ENSG00000136720

Protein

• UniProt ID: 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

Pathways

KEGG:

Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Reactome:

HS-GAG biosynthesis

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
HS6ST1-related disorder	Likely benign; Benign; Uncertain significance	rs745353899, rs199538589, rs776102619, rs534608659, rs370007456, rs759982406, rs541048846, rs543138462, rs772677352, rs61732019, rs201307896	RCV003970974 RCV003917537 RCV003954252 RCV003981642 RCV003902214 RCV003904571 RCV003964575 RCV003971886 RCV003971970 RCV003921955 RCV003952386
Hypogonadotropic hypogonadism 15 with anosmia	Uncertain significance; risk factor	rs780352591, rs201307896, rs761325768, rs2104908342	RCV000032892 RCV000032893 RCV000032894 RCV000032895
Hypogonadotropic hypogonadism 15 with or without anosmia	Benign; Likely benign; Uncertain significance	rs199538589, rs3958533, rs1693560929	RCV001258243 RCV001391312 RCV001196831
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO	Benign; Likely benign	rs199538589	RCV000032891
Hypogonadotropic hypogonadism 7 with or without anosmia	Benign; Likely benign	rs199538589, rs3958533, rs147436494, rs200979099	RCV000156968 RCV000986814 RCV000986813 RCV000986815
See cases	Uncertain significance	rs370255491	RCV004584541

Associations from Text Mining
Disease Name	Relationship Type	References
Atherosclerosis	Associate	37686257
Cerebral Infarction	Associate	37686257
Combined Pituitary Hormone Deficiency	Associate	35805171
Embolic Stroke	Associate	37686257
Glioma	Associate	29104277
Hypogonadism	Associate	35669683, 35805171, 38096238
Idiopathic Pulmonary Fibrosis	Associate	23962103
Kallmann Syndrome	Associate	23533228
Microphthalmia Isolated 1	Associate	26207952
Neoplasm Metastasis	Associate	29940912
Neoplasms	Associate	17437011
Osteoarthritis	Associate	30553836