EXT1 (exostosin glycosyltransferase 1)

Gene

• Entrez ID: 2131
• Gene name: Exostosin glycosyltransferase 1
• Gene symbol: EXT1
• Synonyms (NCBI Gene): EXT, LGCR, LGS, TRPS2, TTV
• Disease Acronyms (UniProt): TRPS2
• Chromosome: 8
• Chromosome location: 8q24.11
• Summary: This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, J

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11546829	G>A,T	Pathogenic, benign	Synonymous variant, coding sequence variant, stop gained
rs119103287	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs119103288	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs119103289	G>T	Pathogenic	Stop gained, coding sequence variant
rs119103290	G>A	Pathogenic	Missense variant, coding sequence variant
rs587776540	CACTTTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs757499157	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786205593	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs886039352	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886039353	C>A,G,T	Pathogenic	Splice donor variant
rs886039354	C>A,T	Pathogenic	Splice donor variant
rs886039355	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs886039356	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039357	G>C	Pathogenic	Stop gained, coding sequence variant
rs886039486	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039561	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041699	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042484	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057518031	CAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1057518623	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1057520535	C>A	Pathogenic	Coding sequence variant, stop gained
rs1057520608	A>T	Pathogenic	Coding sequence variant, stop gained
rs1064793465	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793753	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064793786	T>C	Pathogenic	Missense variant, coding sequence variant
rs1064794137	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1064795778	->TT	Pathogenic	Coding sequence variant, stop gained
rs1131691623	C>A,G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1131692020	A>T	Pathogenic	Coding sequence variant, stop gained
rs1227875610	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1233701691	T>C	Pathogenic	Splice acceptor variant
rs1363815113	G>A	Pathogenic	Coding sequence variant, stop gained
rs1369118661	GTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554578706	A>T	Pathogenic	Coding sequence variant, stop gained
rs1554578710	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554578798	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554578802	T>C	Pathogenic	Splice acceptor variant
rs1554578992	A>T	Pathogenic	Splice donor variant
rs1554579004	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554580035	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554580140	T>G	Pathogenic	Intron variant
rs1554580142	A>T	Pathogenic	Splice donor variant
rs1554580147	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554580149	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554580153	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554580158	A>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1554580160	C>G	Pathogenic	Splice acceptor variant
rs1554580162	T>C	Pathogenic	Splice acceptor variant
rs1554601473	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554601474	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554601476	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554601481	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554601483	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554601492	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554601502	ACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1554601504	ATGCTGGCTTTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554601507	->AGCA	Pathogenic	Coding sequence variant, frameshift variant
rs1554601519	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554601525	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1554601526	A>-	Pathogenic	Coding sequence variant, stop gained
rs1554601534	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554601550	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554601559	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1554601568	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554656266	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554656288	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554657213	A>C	Pathogenic	Coding sequence variant, stop gained
rs1554657437	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554657927	->TCCTCGTCAAGGCTGAG	Pathogenic	Coding sequence variant, frameshift variant
rs1554657940	TGTTGTCGTAGGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGAATGA>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1563569983	T>A	Pathogenic	Coding sequence variant, stop gained
rs1563571296	->TCCATATTAAACTGTTACGTGAT	Likely-pathogenic	Coding sequence variant, inframe insertion, stop gained
rs1563571318	G>C	Pathogenic	Coding sequence variant, stop gained
rs1563573730	C>T	Pathogenic	Coding sequence variant, stop gained
rs1563575654	CCTGC>-	Pathogenic	Coding sequence variant, splice donor variant
rs1563575697	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1563659325	C>G	Pathogenic	Coding sequence variant, missense variant
rs1563659352	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563659467	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1563659474	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563659571	CT>A	Pathogenic	Coding sequence variant, frameshift variant
rs1563659649	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1563659821	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563872934	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586279285	ACTT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1586279297	A>T	Pathogenic	Stop gained, coding sequence variant
rs1586279535	TTTTCAGTACTGATGCTGGCTTTGGCCAGCATCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586279544	ATGCTGGCTTTGGCCAGCATCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586279621	A>C	Pathogenic	Stop gained, coding sequence variant
rs1586279835	G>A	Pathogenic	Stop gained, coding sequence variant
rs1586279952	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1586280132	C>T	Pathogenic	Stop gained, coding sequence variant
rs1586280217	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586280235	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586989189	CTCACAAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586989202	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586989220	G>T	Pathogenic	Stop gained, coding sequence variant
rs1586990317	C>T	Pathogenic	Stop gained, coding sequence variant
rs1586990361	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586990398	C>T	Pathogenic	Stop gained, coding sequence variant
rs1586990402	C>T	Pathogenic	Stop gained, coding sequence variant
rs1586993159	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1586996629	GGGTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586997796	C>T	Pathogenic	Splice donor variant
rs1586997875	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1587001428	C>T	Pathogenic	Stop gained, coding sequence variant
rs1587003655	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1587003661	C>G	Pathogenic	Splice acceptor variant
rs1587003662	T>C	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020052	hsa-miR-375	Microarray	20215506
MIRT044632	hsa-miR-320a	CLASH	23622248
MIRT567645	hsa-miR-3133	PAR-CLIP	20371350
MIRT567644	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT558028	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT558042	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT558041	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT558040	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT558039	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT558038	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT558037	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT558036	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT558035	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT558034	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT445458	hsa-miR-646	PAR-CLIP	21572407
MIRT558033	hsa-miR-6074	PAR-CLIP	21572407
MIRT558032	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT558031	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT558030	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT558029	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT558027	hsa-miR-6124	PAR-CLIP	21572407
MIRT558028	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT558026	hsa-miR-3153	PAR-CLIP	21572407
MIRT558025	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT558024	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT558023	hsa-miR-4648	PAR-CLIP	21572407
MIRT558022	hsa-miR-1233-5p	PAR-CLIP	21572407
MIRT558021	hsa-miR-6778-5p	PAR-CLIP	21572407
MIRT558020	hsa-miR-4654	PAR-CLIP	21572407
MIRT558019	hsa-miR-4769-5p	PAR-CLIP	21572407
MIRT558018	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT558017	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558016	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT558015	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT445459	hsa-miR-2278	PAR-CLIP	22100165
MIRT445458	hsa-miR-646	PAR-CLIP	22100165
MIRT445457	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT445456	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT445455	hsa-miR-6859-3p	PAR-CLIP	22100165
MIRT445454	hsa-miR-6846-3p	PAR-CLIP	22100165
MIRT445453	hsa-miR-6077	PAR-CLIP	22100165
MIRT445452	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT445450	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT440702	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440702	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT567645	hsa-miR-3133	PAR-CLIP	20371350
MIRT567644	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT558028	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT558042	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT558041	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT558040	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT558039	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT558038	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT558037	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT558036	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT558035	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT558034	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT445458	hsa-miR-646	PAR-CLIP	21572407
MIRT558033	hsa-miR-6074	PAR-CLIP	21572407
MIRT558032	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT558031	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT558030	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT558029	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT558027	hsa-miR-6124	PAR-CLIP	21572407
MIRT558028	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT558026	hsa-miR-3153	PAR-CLIP	21572407
MIRT558025	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT558024	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT558023	hsa-miR-4648	PAR-CLIP	21572407
MIRT558022	hsa-miR-1233-5p	PAR-CLIP	21572407
MIRT558021	hsa-miR-6778-5p	PAR-CLIP	21572407
MIRT558020	hsa-miR-4654	PAR-CLIP	21572407
MIRT558019	hsa-miR-4769-5p	PAR-CLIP	21572407
MIRT558018	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT558017	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558016	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT558015	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT445459	hsa-miR-2278	PAR-CLIP	22100165
MIRT445458	hsa-miR-646	PAR-CLIP	22100165
MIRT445457	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT445456	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT445455	hsa-miR-6859-3p	PAR-CLIP	22100165
MIRT445454	hsa-miR-6846-3p	PAR-CLIP	22100165
MIRT445453	hsa-miR-6077	PAR-CLIP	22100165
MIRT445452	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT445450	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT973485	hsa-miR-1294	CLIP-seq
MIRT973486	hsa-miR-1302	CLIP-seq
MIRT973487	hsa-miR-1915	CLIP-seq
MIRT973488	hsa-miR-219-1-3p	CLIP-seq
MIRT973489	hsa-miR-4298	CLIP-seq
MIRT973490	hsa-miR-4433	CLIP-seq
MIRT973491	hsa-miR-4676-5p	CLIP-seq
MIRT973492	hsa-miR-4726-3p	CLIP-seq
MIRT973493	hsa-miR-4786-3p	CLIP-seq
MIRT973494	hsa-miR-575	CLIP-seq
MIRT973495	hsa-miR-665	CLIP-seq
MIRT973485	hsa-miR-1294	CLIP-seq
MIRT1548461	hsa-miR-4274	CLIP-seq
MIRT1548462	hsa-miR-4299	CLIP-seq
MIRT1548463	hsa-miR-4456	CLIP-seq
MIRT973491	hsa-miR-4676-5p	CLIP-seq
MIRT973493	hsa-miR-4786-3p	CLIP-seq
MIRT1548464	hsa-miR-548q	CLIP-seq
MIRT973494	hsa-miR-575	CLIP-seq
MIRT1548465	hsa-miR-622	CLIP-seq
MIRT1988405	hsa-miR-149	CLIP-seq
MIRT1988406	hsa-miR-3064-5p	CLIP-seq
MIRT1988407	hsa-miR-3126-3p	CLIP-seq
MIRT1988408	hsa-miR-3130-3p	CLIP-seq
MIRT1988409	hsa-miR-3194-3p	CLIP-seq
MIRT1988410	hsa-miR-3681	CLIP-seq
MIRT1988411	hsa-miR-4481	CLIP-seq
MIRT1988412	hsa-miR-4502	CLIP-seq
MIRT1988413	hsa-miR-4745-5p	CLIP-seq
MIRT1988414	hsa-miR-4758-5p	CLIP-seq
MIRT1988415	hsa-miR-4793-3p	CLIP-seq
MIRT1988416	hsa-miR-4794	CLIP-seq
MIRT1988417	hsa-miR-760	CLIP-seq
MIRT1548461	hsa-miR-4274	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
USF1	Unknown	22037484

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS	12907669
GO:0001501	Process	Skeletal system development	TAS	9620772
GO:0001503	Process	Ossification	IMP	7550340
GO:0001958	Process	Endochondral ossification	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002067	Process	Glandular epithelial cell differentiation	IEA
GO:0002524	Process	Hypersensitivity	IEA
GO:0003128	Process	Heart field specification	IEA
GO:0003416	Process	Endochondral bone growth	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	9620772
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	9620772
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	10639137
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	12907669
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0007033	Process	Vacuole organization	IEA
GO:0007165	Process	Signal transduction	TAS	10878610
GO:0007369	Process	Gastrulation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA	21873635
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	12907669
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009615	Process	Response to virus	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IDA	9620772, 10639137
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	ISS
GO:0015014	Process	Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IMP	17761672
GO:0015020	Function	Glucuronosyltransferase activity	IBA	21873635
GO:0015020	Function	Glucuronosyltransferase activity	IDA	12907669
GO:0016021	Component	Integral component of membrane	TAS	9620772
GO:0016757	Function	Transferase activity, transferring glycosyl groups	IBA	21873635
GO:0016757	Function	Transferase activity, transferring glycosyl groups	IDA	12907669
GO:0017145	Process	Stem cell division	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	ISS
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030210	Process	Heparin biosynthetic process	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0032836	Process	Glomerular basement membrane development	IEA
GO:0033627	Process	Cell adhesion mediated by integrin	IEA
GO:0033692	Process	Cellular polysaccharide biosynthetic process	IDA	12907669
GO:0035176	Process	Social behavior	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0036022	Process	Limb joint morphogenesis	IEA
GO:0036336	Process	Dendritic cell migration	IEA
GO:0036339	Process	Lymphocyte adhesion to endothelial cell of high endothelial venule	IEA
GO:0042044	Process	Fluid transport	IEA
GO:0042060	Process	Wound healing	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042328	Function	Heparan sulfate N-acetylglucosaminyltransferase activity	NAS	12907669
GO:0042596	Process	Fear response	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	12907669
GO:0045165	Process	Cell fate commitment	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	12907669
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISS
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	NAS	12907669
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	ISS
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	NAS	12907669
GO:0050891	Process	Multicellular organismal water homeostasis	IEA
GO:0050901	Process	Leukocyte tethering or rolling	IEA
GO:0051923	Process	Sulfation	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060218	Process	Hematopoietic stem cell differentiation	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060506	Process	Smoothened signaling pathway involved in lung development	IEA
GO:0060560	Process	Developmental growth involved in morphogenesis	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0061974	Process	Perichondral bone morphogenesis	IEA
GO:0062094	Process	Stomach development	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0070593	Process	Dendrite self-avoidance	IEA
GO:0071503	Process	Response to heparin	IEA
GO:0071625	Process	Vocalization behavior	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0072112	Process	Glomerular visceral epithelial cell differentiation	IEA
GO:0072498	Process	Embryonic skeletal joint development	IEA
GO:0097021	Process	Lymphocyte migration into lymphoid organs	IEA
GO:0120193	Process	Tight junction organization	IEA
GO:1901706	Process	Mesenchymal cell differentiation involved in bone development	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990823	Process	Response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 608177
• HGNC: 3512
• e!Ensembl: ENSG00000182197

Protein

• UniProt ID: Q16394
• Protein name: Exostosin-1 (EC 2.4.1.225) (Exostosin glycosyltransferase 1) (Heparan sulfate co-polymerase subunit EXT1) (Multiple exostoses protein 1) (N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase)
• Protein function: Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:10639137, PubMed:22660413, PubMed:36402845, PubMed:36593275, PubMed:9620772). Glycan
• PDB: 7SCH, 7SCJ, 7SCK, 7UQX, 7UQY, 7ZAY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03016	Exostosin	110 → 396	Exostosin family	Family
  PF09258	Glyco_transf_64	480 → 729	Glycosyl transferase family 64 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:7550340}.
• Sequence:

  MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
  ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
  QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
  LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
  HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
  GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
  SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
  KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
  TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
  GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
  NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
  VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
  QMRLDPVLFKDQVSILRKKYRDIERL

• Sequence length: 746

Pathways

KEGG:

Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways

Reactome:

HS-GAG biosynthesis
Defective EXT2 causes exostoses 2
Defective EXT1 causes exostoses 1, TRPS2 and CHDS

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	12032595
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
Chondrosarcoma	Chondrosarcoma	rs587776540, rs1586279285, rs886039356, rs1554578798, rs1817895168	10441575, 29529714, 23770606
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	30093612
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Langer-giedion syndrome	Langer-Giedion Syndrome	rs886040971, rs1554617582	7550340
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital exostosis	Hereditary Multiple Exostoses	rs119103287, rs119103288, rs119103290, rs886039353, rs1586279285, rs786205593, rs886039357, rs886039356, rs886039355, rs886039354, rs886039352, rs886039486, rs886039561, rs1057520608, rs1554601476, rs1064793753, rs1131692020, rs1554578802, rs1554580149, rs1554601492, rs1554580142, rs1554601502, rs1554580153, rs1554657940, rs1554578798, rs1554579004, rs1554580140, rs1363815113, rs1554657437, rs1554601474, rs1554601534, rs1554601559, rs1554657927, rs1554580147, rs1554601568, rs1554656288, rs1554578992, rs1554656266, rs1554601483, rs1554601525, rs1554580162, rs1554601481, rs1554601504, rs1554601507, rs1227875610, rs1563575697, rs1563659325, rs1563659352, rs1563659467, rs1563659474, rs1563659649, rs1563872934, rs1563575654, rs1131691623, rs1563569983, rs11546829, rs1563571318, rs1563659821, rs1563571296, rs1586989202, rs1586989220, rs1586990317, rs1586990402, rs1587001428, rs1587003655, rs1587004341, rs1586279297, rs1586279535, rs1586279544, rs1586279621, rs1586279835, rs1586279952, rs1586280235, rs1233701691, rs1586997796, rs1587003661, rs1554578710, rs1587003662, rs1586990361, rs1586990398, rs1369118661, rs1586280217, rs1586989189, rs1823212594, rs1823212809, rs1823253080, rs1718310043, rs1823253698, rs1823254238, rs1823254431, rs1823350888, rs1823352329, rs1823353269, rs1811864784, rs1811893325, rs1811940788, rs1812075737, rs1812077342, rs561006425, rs1812078315, rs1812173838, rs1812174128, rs1812200035, rs1812200901, rs1817867776, rs1817872132, rs1817878703, rs1817879125, rs982804750, rs1817884791, rs1817885411, rs1817887343, rs1817889027, rs1817893887, rs1817895168, rs1823350857, rs1811893467, rs1823251224, rs1823251265, rs1823350795, rs1811943967, rs1823354043, rs1812078423, rs1817893036	10713884, 28445472, 21310272, 26961984, 10679296, 22258776, 16283885, 19810120, 17041877, 24532482, 19839753, 8981950, 18373409, 7550340, 11518722, 9326317, 17301954, 2788404, 11391482, 15586175, 26515642, 9521425, 23439489, 27604308, 9463333, 25541963, 18330718, 26239617, 26690531, 20080592, 10480354, 10639137, 18165274, 11170095, 12490068, 11432960, 10679937, 10441575, 9150727, 1816274, 9620772, 20534475, 12417417, 25468659, 11169766
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Trichorhinophalangeal dysplasia	Trichorhinophalangeal syndrome type 2	rs121908430, rs121908431, rs2130444636, rs2130444402, rs121908432, rs2129748003, rs121908433, rs121908434, rs121908435, rs121908436, rs28939069, rs28939070, rs864621974, rs886040971, rs1057518972, rs1554617011, rs751565386, rs1554617573, rs1554595930, rs1554596328, rs1554596393, rs1554596418, rs1563714392, rs1586249260, rs1586430715, rs1586431903, rs1812971156
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Multiple exostoses	exostoses, multiple, type 1			GenCC
Multiple Osteochondromas	hereditary multiple osteochondromas			GenCC
Schizophrenia	Schizophrenia			GWAS
Leprosy	Leprosy			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Psoriasis	Psoriasis			GWAS
Epilepsy	Epilepsy			GWAS
Insomnia	Insomnia			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	10934647, 32522262
Adenocarcinoma of Lung	Associate	31847905
Atrophy	Stimulate	33478971
Blood Coagulation Disorders	Associate	33314711
Bone Diseases Metabolic	Associate	36866988
Brachydactyly	Associate	36866988
Brachydactyly Type E	Associate	40589517
Breast Neoplasms	Associate	30054430
Calcinosis	Associate	10934647
Carcinogenesis	Associate	31200735
Carcinoma Hepatocellular	Associate	30278583, 37308486
Carcinoma Hepatocellular	Stimulate	31200735
Carcinoma Non Small Cell Lung	Associate	33565239, 33580150
Carcinoma Squamous Cell	Associate	33314711
Central Nervous System Infections	Associate	20183548
Chondroma	Associate	24009674
Chondrosarcoma	Associate	11432960, 19336518, 22116208, 7726169, 8981950
De Lange Syndrome	Associate	26522117, 32296131
Dwarfism Pituitary	Associate	36866988
Enchondromatosis	Associate	36676722
Exostoses	Associate	11461073, 27616605, 7668264, 7726169, 8981950, 9463333
Exostoses	Stimulate	18452536
Exostoses Multiple Hereditary	Associate	10441575, 10934647, 11432960, 11896078, 16638657, 17676624, 17761672, 18165274, 19179614, 20618940, 20813973, 20872591, 21533187, 21703028, 22799611, 23439489, 23629877, 24009674, 24532482, 24728384, 25421355, 25498973, 25541963, 26961984, 27616605, 28035357, 28690282, 28922105, 29126381, 29529714, 30334991, 30632316, 30664192, 31096510, 32293802, 33632255, 34403521, 35103870, 35106951, 36360300, 36443465, 36676722, 39336760, 40225915, 9326317, 9463333
Exostoses Multiple Hereditary	Stimulate	18452536
Fibrosis	Stimulate	33478971
Forearm Injuries	Associate	29126381
Fractures Bone	Associate	36866988
Genetic Diseases Inborn	Associate	35103870
Glioma	Inhibit	29104277
Glomerulonephritis	Inhibit	33478971
Glomerulonephritis Membranous	Associate	33478971, 38154829, 38280123
Glycogen Storage Disease XIV	Associate	25230886
Granulosis Rubra Nasi	Associate	36866988
Hepatitis C	Associate	15133472
Hypoxia	Associate	34637697
Intellectual Disability	Associate	9138161
Langer Giedion Syndrome	Associate	26522117, 36866988, 38574886, 9138161
Langer Giedion Syndrome	Inhibit	27869420
Leukemia	Associate	23733339
Lupus Erythematosus Systemic	Associate	38280123
Lupus Nephritis	Associate	33478971, 38154829
Melanoma	Associate	36982528
Mucopolysaccharidosis III	Associate	36676722
Myeloproliferative Syndrome Transient	Associate	23733339
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	9326317
Neoplasm Metastasis	Associate	31847905
Neoplasms	Associate	15133472, 22025563, 30278583, 31200735, 33580150, 37902189
Neoplasms	Inhibit	19179614, 25230886, 32398079, 36360300, 36982528, 7726169, 9037597, 9326317
Neoplastic Syndromes Hereditary	Associate	11140704, 30334991, 32522262, 34409107, 40407290
Nephrotic Syndrome	Associate	38154829
Nose Diseases	Associate	36866988
Osteochondroma	Associate	10441575, 20421870, 20813973, 22116208
Osteopoikilosis	Associate	20618940
Pain	Associate	32522262
Polydactyly Postaxial	Associate	9138161
Precancerous Conditions	Associate	30054430
Prostatic Neoplasms	Associate	26890304
Proteinuria	Associate	33478971
Sarcoma	Associate	37536918