EXT2 (exostosin glycosyltransferase 2)

Gene

• Entrez ID: 2132
• Gene name: Exostosin glycosyltransferase 2
• Gene symbol: EXT2
• Synonyms (NCBI Gene): SOTV, SSMS
• Disease Acronyms (UniProt): SSMS
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isof

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918279	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121918280	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918281	C>G	Pathogenic	Coding sequence variant, stop gained
rs138187791	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, intron variant, missense variant
rs138495222	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs140075817	T>G	Likely-pathogenic, not-provided, likely-benign, benign, pathogenic	Coding sequence variant, missense variant
rs142565472	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant
rs148711133	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs267606786	C>T	Pathogenic	Stop gained, coding sequence variant
rs369029338	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs376292686	C>T	Pathogenic	Missense variant, coding sequence variant
rs527624522	C>T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs750542485	G>A,C	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs754533434	C>T	Pathogenic	Stop gained, coding sequence variant
rs763718818	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs764379119	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs772690312	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs864309636	CTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309637	G>A	Pathogenic	Splice donor variant
rs864309638	A>C	Pathogenic	Splice acceptor variant
rs886039358	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039565	G>A	Pathogenic	Stop gained, coding sequence variant
rs886039566	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039567	G>A	Pathogenic	Splice donor variant
rs886039744	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041199	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs886041272	->TGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1057521132	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1064793854	A>G	Pathogenic	Splice acceptor variant
rs1064796192	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1085307877	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1369420640	G>A,T	Pathogenic	Splice donor variant
rs1450980907	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1457613214	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1555002457	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555002460	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555002543	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555005328	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555005398	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555006433	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555012835	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1564986609	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1565196333	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565196489	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565197245	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565199251	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565205890	T>A	Pathogenic	Splice donor variant
rs1590548183	AACCGGGCCTGTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590548336	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs1590570665	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590570953	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590618771	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1590618958	->AT	Pathogenic	Coding sequence variant, frameshift variant
rs1590647371	->A	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1590667793	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029899	hsa-miR-26b-5p	Microarray	19088304
MIRT047352	hsa-miR-34a-5p	CLASH	23622248
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT483063	hsa-miR-3185	PAR-CLIP	20371350
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT483071	hsa-miR-548p	PAR-CLIP	20371350
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT483063	hsa-miR-3185	PAR-CLIP	20371350
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	23446348
MIRT483071	hsa-miR-548p	PAR-CLIP	23446348
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	23446348
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	23446348
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	23446348
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	23446348
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	23446348
MIRT483063	hsa-miR-3185	PAR-CLIP	23446348
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	23446348
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT483071	hsa-miR-548p	PAR-CLIP	23592263
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT483063	hsa-miR-3185	PAR-CLIP	23592263
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT483071	hsa-miR-548p	PAR-CLIP	23592263
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT483063	hsa-miR-3185	PAR-CLIP	23592263
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT483063	hsa-miR-3185	PAR-CLIP	26701625
MIRT483063	hsa-miR-3185	PAR-CLIP	26701625
MIRT483063	hsa-miR-3185	PAR-CLIP	26701625
MIRT483063	hsa-miR-3185	PAR-CLIP	26701625
MIRT483063	hsa-miR-3185	PAR-CLIP	26701625
MIRT483063	hsa-miR-3185	PAR-CLIP	26701625
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	26701625
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	26701625
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	26701625
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	26701625
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	26701625
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	26701625
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	26701625
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	26701625
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	26701625
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT483071	hsa-miR-548p	PAR-CLIP	26701625
MIRT483071	hsa-miR-548p	PAR-CLIP	26701625
MIRT483071	hsa-miR-548p	PAR-CLIP	26701625
MIRT483071	hsa-miR-548p	PAR-CLIP	26701625
MIRT483071	hsa-miR-548p	PAR-CLIP	26701625
MIRT483071	hsa-miR-548p	PAR-CLIP	26701625
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	26701625
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	26701625
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	26701625
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	26701625
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	26701625
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	26701625
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	26701625
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	26701625
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	26701625
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	26701625
MIRT483063	hsa-miR-3185	PAR-CLIP	27292025
MIRT483063	hsa-miR-3185	PAR-CLIP	27292025
MIRT483063	hsa-miR-3185	PAR-CLIP	27292025
MIRT483063	hsa-miR-3185	PAR-CLIP	27292025
MIRT483063	hsa-miR-3185	PAR-CLIP	27292025
MIRT483063	hsa-miR-3185	PAR-CLIP	27292025
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	27292025
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	27292025
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	27292025
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	27292025
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	27292025
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	27292025
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	27292025
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	27292025
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	27292025
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	27292025
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	27292025
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	27292025
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	27292025
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	27292025
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	27292025
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	27292025
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	27292025
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	27292025
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	27292025
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	27292025
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	27292025
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	27292025
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	27292025
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	27292025
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	27292025
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	27292025
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	27292025
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	27292025
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	27292025
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	27292025
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	27292025
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	27292025
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	27292025
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	27292025
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	27292025
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	27292025
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	27292025
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	27292025
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	27292025
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	27292025
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	27292025
MIRT483071	hsa-miR-548p	PAR-CLIP	27292025
MIRT483071	hsa-miR-548p	PAR-CLIP	27292025
MIRT483071	hsa-miR-548p	PAR-CLIP	27292025
MIRT483071	hsa-miR-548p	PAR-CLIP	27292025
MIRT483071	hsa-miR-548p	PAR-CLIP	27292025
MIRT483071	hsa-miR-548p	PAR-CLIP	27292025
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	27292025
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	27292025
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	27292025
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	27292025
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	27292025
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	27292025
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	27292025
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	27292025
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	27292025
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	27292025
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	27292025
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	27292025
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	27292025
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	27292025
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	27292025
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	27292025
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	27292025
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	27292025
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	27292025
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	27292025
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	27292025
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	27292025
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	27292025
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	27292025
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	27292025
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	27292025
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	27292025
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	27292025
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	27292025
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	27292025
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	27292025
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	27292025
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	27292025
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	27292025
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	27292025
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT483063	hsa-miR-3185	PAR-CLIP	20371350
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT483071	hsa-miR-548p	PAR-CLIP	20371350
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT483063	hsa-miR-3185	PAR-CLIP	20371350
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	23446348
MIRT483071	hsa-miR-548p	PAR-CLIP	23446348
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	23446348
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	23446348
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	23446348
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	23446348
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	23446348
MIRT483063	hsa-miR-3185	PAR-CLIP	23446348
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	23446348
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT483071	hsa-miR-548p	PAR-CLIP	23592263
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT483063	hsa-miR-3185	PAR-CLIP	23592263
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT483072	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT483071	hsa-miR-548p	PAR-CLIP	23592263
MIRT483070	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT483068	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT483069	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT483067	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT483066	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT483065	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT483064	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT483063	hsa-miR-3185	PAR-CLIP	23592263
MIRT483062	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT483061	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT483060	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT483059	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT483058	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT973496	hsa-miR-103a	CLIP-seq
MIRT973497	hsa-miR-107	CLIP-seq
MIRT973498	hsa-miR-1248	CLIP-seq
MIRT973499	hsa-miR-1261	CLIP-seq
MIRT973500	hsa-miR-1269	CLIP-seq
MIRT973501	hsa-miR-1269b	CLIP-seq
MIRT973502	hsa-miR-1302	CLIP-seq
MIRT973503	hsa-miR-153	CLIP-seq
MIRT973504	hsa-miR-15a	CLIP-seq
MIRT973505	hsa-miR-15b	CLIP-seq
MIRT973506	hsa-miR-16	CLIP-seq
MIRT973507	hsa-miR-195	CLIP-seq
MIRT973508	hsa-miR-3122	CLIP-seq
MIRT973509	hsa-miR-3189-3p	CLIP-seq
MIRT973510	hsa-miR-3649	CLIP-seq
MIRT973511	hsa-miR-3913-5p	CLIP-seq
MIRT973512	hsa-miR-424	CLIP-seq
MIRT973513	hsa-miR-4257	CLIP-seq
MIRT973514	hsa-miR-4298	CLIP-seq
MIRT973515	hsa-miR-4310	CLIP-seq
MIRT973516	hsa-miR-448	CLIP-seq
MIRT973517	hsa-miR-4524	CLIP-seq
MIRT973518	hsa-miR-4529-3p	CLIP-seq
MIRT973519	hsa-miR-4773	CLIP-seq
MIRT973520	hsa-miR-497	CLIP-seq
MIRT973521	hsa-miR-502-5p	CLIP-seq
MIRT973522	hsa-miR-503	CLIP-seq
MIRT973523	hsa-miR-568	CLIP-seq
MIRT973524	hsa-miR-636	CLIP-seq
MIRT973525	hsa-miR-646	CLIP-seq
MIRT973526	hsa-miR-876-3p	CLIP-seq
MIRT973527	hsa-miR-1253	CLIP-seq
MIRT973528	hsa-miR-1273d	CLIP-seq
MIRT973529	hsa-miR-3919	CLIP-seq
MIRT973530	hsa-miR-4756-3p	CLIP-seq
MIRT973531	hsa-miR-548b-3p	CLIP-seq
MIRT973496	hsa-miR-103a	CLIP-seq
MIRT973497	hsa-miR-107	CLIP-seq
MIRT973504	hsa-miR-15a	CLIP-seq
MIRT973505	hsa-miR-15b	CLIP-seq
MIRT973506	hsa-miR-16	CLIP-seq
MIRT973507	hsa-miR-195	CLIP-seq
MIRT1988418	hsa-miR-330-3p	CLIP-seq
MIRT973512	hsa-miR-424	CLIP-seq
MIRT973515	hsa-miR-4310	CLIP-seq
MIRT973517	hsa-miR-4524	CLIP-seq
MIRT1988419	hsa-miR-4684-3p	CLIP-seq
MIRT973520	hsa-miR-497	CLIP-seq
MIRT973522	hsa-miR-503	CLIP-seq
MIRT1988420	hsa-miR-518a-5p	CLIP-seq
MIRT1988421	hsa-miR-527	CLIP-seq
MIRT973523	hsa-miR-568	CLIP-seq
MIRT973525	hsa-miR-646	CLIP-seq
MIRT2222866	hsa-miR-3201	CLIP-seq
MIRT2222867	hsa-miR-4791	CLIP-seq
MIRT973496	hsa-miR-103a	CLIP-seq
MIRT973497	hsa-miR-107	CLIP-seq
MIRT973504	hsa-miR-15a	CLIP-seq
MIRT973505	hsa-miR-15b	CLIP-seq
MIRT973506	hsa-miR-16	CLIP-seq
MIRT973507	hsa-miR-195	CLIP-seq
MIRT1988418	hsa-miR-330-3p	CLIP-seq
MIRT973512	hsa-miR-424	CLIP-seq
MIRT973515	hsa-miR-4310	CLIP-seq
MIRT973517	hsa-miR-4524	CLIP-seq
MIRT1988419	hsa-miR-4684-3p	CLIP-seq
MIRT973520	hsa-miR-497	CLIP-seq
MIRT973522	hsa-miR-503	CLIP-seq
MIRT1988420	hsa-miR-518a-5p	CLIP-seq
MIRT1988421	hsa-miR-527	CLIP-seq
MIRT973523	hsa-miR-568	CLIP-seq
MIRT973525	hsa-miR-646	CLIP-seq
MIRT2526603	hsa-miR-1207-3p	CLIP-seq
MIRT2526604	hsa-miR-1224-3p	CLIP-seq
MIRT2526605	hsa-miR-1236	CLIP-seq
MIRT2526606	hsa-miR-1243	CLIP-seq
MIRT2526607	hsa-miR-1245b-5p	CLIP-seq
MIRT973527	hsa-miR-1253	CLIP-seq
MIRT2526608	hsa-miR-1256	CLIP-seq
MIRT2526609	hsa-miR-125a-5p	CLIP-seq
MIRT2526610	hsa-miR-125b	CLIP-seq
MIRT2526611	hsa-miR-1260	CLIP-seq
MIRT2526612	hsa-miR-1260b	CLIP-seq
MIRT2526613	hsa-miR-1264	CLIP-seq
MIRT973528	hsa-miR-1273d	CLIP-seq
MIRT2526614	hsa-miR-1280	CLIP-seq
MIRT2526615	hsa-miR-1287	CLIP-seq
MIRT2526616	hsa-miR-1290	CLIP-seq
MIRT2526617	hsa-miR-138	CLIP-seq
MIRT973503	hsa-miR-153	CLIP-seq
MIRT2526618	hsa-miR-181a	CLIP-seq
MIRT2526619	hsa-miR-181b	CLIP-seq
MIRT2526620	hsa-miR-181c	CLIP-seq
MIRT2526621	hsa-miR-181d	CLIP-seq
MIRT2526622	hsa-miR-1914	CLIP-seq
MIRT2526623	hsa-miR-2117	CLIP-seq
MIRT2526624	hsa-miR-23a	CLIP-seq
MIRT2526625	hsa-miR-23b	CLIP-seq
MIRT2526626	hsa-miR-23c	CLIP-seq
MIRT2526627	hsa-miR-300	CLIP-seq
MIRT2526628	hsa-miR-3064-3p	CLIP-seq
MIRT2526629	hsa-miR-3119	CLIP-seq
MIRT2526630	hsa-miR-3133	CLIP-seq
MIRT2526631	hsa-miR-3136-5p	CLIP-seq
MIRT2526632	hsa-miR-3140-3p	CLIP-seq
MIRT2526633	hsa-miR-3142	CLIP-seq
MIRT2526634	hsa-miR-3167	CLIP-seq
MIRT2526635	hsa-miR-3180-5p	CLIP-seq
MIRT2526636	hsa-miR-3192	CLIP-seq
MIRT2526637	hsa-miR-338-3p	CLIP-seq
MIRT2526638	hsa-miR-345	CLIP-seq
MIRT2526639	hsa-miR-3614-5p	CLIP-seq
MIRT2526640	hsa-miR-3667-3p	CLIP-seq
MIRT2526641	hsa-miR-3689a-3p	CLIP-seq
MIRT2526642	hsa-miR-3689c	CLIP-seq
MIRT2526643	hsa-miR-381	CLIP-seq
MIRT2526644	hsa-miR-3907	CLIP-seq
MIRT2526645	hsa-miR-3910	CLIP-seq
MIRT2526646	hsa-miR-3913-3p	CLIP-seq
MIRT973529	hsa-miR-3919	CLIP-seq
MIRT2526647	hsa-miR-3925-3p	CLIP-seq
MIRT973513	hsa-miR-4257	CLIP-seq
MIRT2526648	hsa-miR-4262	CLIP-seq
MIRT2526649	hsa-miR-4273	CLIP-seq
MIRT2526650	hsa-miR-4274	CLIP-seq
MIRT2526651	hsa-miR-4287	CLIP-seq
MIRT2526652	hsa-miR-4312	CLIP-seq
MIRT2526653	hsa-miR-4314	CLIP-seq
MIRT2526654	hsa-miR-4319	CLIP-seq
MIRT2526655	hsa-miR-4421	CLIP-seq
MIRT2526656	hsa-miR-4436b-5p	CLIP-seq
MIRT2526657	hsa-miR-4439	CLIP-seq
MIRT2526658	hsa-miR-4445	CLIP-seq
MIRT2526659	hsa-miR-4469	CLIP-seq
MIRT973516	hsa-miR-448	CLIP-seq
MIRT2526660	hsa-miR-450b-5p	CLIP-seq
MIRT2526661	hsa-miR-4511	CLIP-seq
MIRT2526662	hsa-miR-4530	CLIP-seq
MIRT2526663	hsa-miR-4642	CLIP-seq
MIRT2526664	hsa-miR-4661-3p	CLIP-seq
MIRT2526665	hsa-miR-4666-5p	CLIP-seq
MIRT2526666	hsa-miR-4670-3p	CLIP-seq
MIRT2526667	hsa-miR-4677-5p	CLIP-seq
MIRT2526668	hsa-miR-4685-3p	CLIP-seq
MIRT2526669	hsa-miR-4728-5p	CLIP-seq
MIRT2526670	hsa-miR-4729	CLIP-seq
MIRT2526671	hsa-miR-4731-5p	CLIP-seq
MIRT2526672	hsa-miR-4732-3p	CLIP-seq
MIRT2526673	hsa-miR-4753-3p	CLIP-seq
MIRT973530	hsa-miR-4756-3p	CLIP-seq
MIRT2526674	hsa-miR-4762-5p	CLIP-seq
MIRT2526675	hsa-miR-4766-5p	CLIP-seq
MIRT2526676	hsa-miR-4768-5p	CLIP-seq
MIRT973519	hsa-miR-4773	CLIP-seq
MIRT2526677	hsa-miR-4802-3p	CLIP-seq
MIRT2526678	hsa-miR-489	CLIP-seq
MIRT2526679	hsa-miR-507	CLIP-seq
MIRT2526680	hsa-miR-508-5p	CLIP-seq
MIRT2526681	hsa-miR-512-3p	CLIP-seq
MIRT2526682	hsa-miR-512-5p	CLIP-seq
MIRT2526683	hsa-miR-515-5p	CLIP-seq
MIRT2526684	hsa-miR-516b	CLIP-seq
MIRT2526685	hsa-miR-520a-5p	CLIP-seq
MIRT2526686	hsa-miR-525-5p	CLIP-seq
MIRT973531	hsa-miR-548b-3p	CLIP-seq
MIRT2526687	hsa-miR-548q	CLIP-seq
MIRT2526688	hsa-miR-557	CLIP-seq
MIRT2526689	hsa-miR-570	CLIP-seq
MIRT2526690	hsa-miR-605	CLIP-seq
MIRT2526691	hsa-miR-629	CLIP-seq
MIRT2526692	hsa-miR-642a	CLIP-seq
MIRT2526693	hsa-miR-659	CLIP-seq
MIRT2526694	hsa-miR-670	CLIP-seq
MIRT2526695	hsa-miR-759	CLIP-seq
MIRT2526696	hsa-miR-766	CLIP-seq
MIRT2526697	hsa-miR-873	CLIP-seq
MIRT2526698	hsa-miR-876-5p	CLIP-seq
MIRT2526699	hsa-miR-942	CLIP-seq
MIRT2526700	hsa-miR-943	CLIP-seq
MIRT2526628	hsa-miR-3064-3p	CLIP-seq
MIRT2526603	hsa-miR-1207-3p	CLIP-seq
MIRT2526604	hsa-miR-1224-3p	CLIP-seq
MIRT2526605	hsa-miR-1236	CLIP-seq
MIRT2526607	hsa-miR-1245b-5p	CLIP-seq
MIRT973527	hsa-miR-1253	CLIP-seq
MIRT2526608	hsa-miR-1256	CLIP-seq
MIRT2526611	hsa-miR-1260	CLIP-seq
MIRT2526612	hsa-miR-1260b	CLIP-seq
MIRT2526613	hsa-miR-1264	CLIP-seq
MIRT973528	hsa-miR-1273d	CLIP-seq
MIRT2526614	hsa-miR-1280	CLIP-seq
MIRT2526615	hsa-miR-1287	CLIP-seq
MIRT2526616	hsa-miR-1290	CLIP-seq
MIRT2526617	hsa-miR-138	CLIP-seq
MIRT973503	hsa-miR-153	CLIP-seq
MIRT2526618	hsa-miR-181a	CLIP-seq
MIRT2526619	hsa-miR-181b	CLIP-seq
MIRT2526620	hsa-miR-181c	CLIP-seq
MIRT2526621	hsa-miR-181d	CLIP-seq
MIRT2526622	hsa-miR-1914	CLIP-seq
MIRT2526623	hsa-miR-2117	CLIP-seq
MIRT2526624	hsa-miR-23a	CLIP-seq
MIRT2526625	hsa-miR-23b	CLIP-seq
MIRT2526626	hsa-miR-23c	CLIP-seq
MIRT2526627	hsa-miR-300	CLIP-seq
MIRT2526628	hsa-miR-3064-3p	CLIP-seq
MIRT2526629	hsa-miR-3119	CLIP-seq
MIRT2526632	hsa-miR-3140-3p	CLIP-seq
MIRT2526633	hsa-miR-3142	CLIP-seq
MIRT2526634	hsa-miR-3167	CLIP-seq
MIRT2526635	hsa-miR-3180-5p	CLIP-seq
MIRT2526636	hsa-miR-3192	CLIP-seq
MIRT2526637	hsa-miR-338-3p	CLIP-seq
MIRT2526638	hsa-miR-345	CLIP-seq
MIRT2526639	hsa-miR-3614-5p	CLIP-seq
MIRT2526640	hsa-miR-3667-3p	CLIP-seq
MIRT2526641	hsa-miR-3689a-3p	CLIP-seq
MIRT2526642	hsa-miR-3689c	CLIP-seq
MIRT2526643	hsa-miR-381	CLIP-seq
MIRT2526644	hsa-miR-3907	CLIP-seq
MIRT2526645	hsa-miR-3910	CLIP-seq
MIRT2526646	hsa-miR-3913-3p	CLIP-seq
MIRT973529	hsa-miR-3919	CLIP-seq
MIRT2526647	hsa-miR-3925-3p	CLIP-seq
MIRT2680403	hsa-miR-425	CLIP-seq
MIRT973513	hsa-miR-4257	CLIP-seq
MIRT2526648	hsa-miR-4262	CLIP-seq
MIRT2526649	hsa-miR-4273	CLIP-seq
MIRT2526650	hsa-miR-4274	CLIP-seq
MIRT2526651	hsa-miR-4287	CLIP-seq
MIRT2526652	hsa-miR-4312	CLIP-seq
MIRT2526653	hsa-miR-4314	CLIP-seq
MIRT2526655	hsa-miR-4421	CLIP-seq
MIRT2526656	hsa-miR-4436b-5p	CLIP-seq
MIRT2526658	hsa-miR-4445	CLIP-seq
MIRT2526659	hsa-miR-4469	CLIP-seq
MIRT973516	hsa-miR-448	CLIP-seq
MIRT2526660	hsa-miR-450b-5p	CLIP-seq
MIRT2526662	hsa-miR-4530	CLIP-seq
MIRT2526663	hsa-miR-4642	CLIP-seq
MIRT2526664	hsa-miR-4661-3p	CLIP-seq
MIRT2526665	hsa-miR-4666-5p	CLIP-seq
MIRT2526666	hsa-miR-4670-3p	CLIP-seq
MIRT2526667	hsa-miR-4677-5p	CLIP-seq
MIRT2526668	hsa-miR-4685-3p	CLIP-seq
MIRT2526669	hsa-miR-4728-5p	CLIP-seq
MIRT2526670	hsa-miR-4729	CLIP-seq
MIRT2526671	hsa-miR-4731-5p	CLIP-seq
MIRT2526673	hsa-miR-4753-3p	CLIP-seq
MIRT973530	hsa-miR-4756-3p	CLIP-seq
MIRT2526674	hsa-miR-4762-5p	CLIP-seq
MIRT2526676	hsa-miR-4768-5p	CLIP-seq
MIRT973519	hsa-miR-4773	CLIP-seq
MIRT2526677	hsa-miR-4802-3p	CLIP-seq
MIRT2526678	hsa-miR-489	CLIP-seq
MIRT2526679	hsa-miR-507	CLIP-seq
MIRT2526680	hsa-miR-508-5p	CLIP-seq
MIRT2526681	hsa-miR-512-3p	CLIP-seq
MIRT2526682	hsa-miR-512-5p	CLIP-seq
MIRT2526683	hsa-miR-515-5p	CLIP-seq
MIRT2526684	hsa-miR-516b	CLIP-seq
MIRT2526685	hsa-miR-520a-5p	CLIP-seq
MIRT2526686	hsa-miR-525-5p	CLIP-seq
MIRT973531	hsa-miR-548b-3p	CLIP-seq
MIRT2526687	hsa-miR-548q	CLIP-seq
MIRT2526688	hsa-miR-557	CLIP-seq
MIRT2526689	hsa-miR-570	CLIP-seq
MIRT2526690	hsa-miR-605	CLIP-seq
MIRT2526691	hsa-miR-629	CLIP-seq
MIRT2526692	hsa-miR-642a	CLIP-seq
MIRT2526693	hsa-miR-659	CLIP-seq
MIRT2526694	hsa-miR-670	CLIP-seq
MIRT2526695	hsa-miR-759	CLIP-seq
MIRT2526696	hsa-miR-766	CLIP-seq
MIRT2526698	hsa-miR-876-5p	CLIP-seq
MIRT2526699	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001503	Process	Ossification	IMP	9326317
GO:0001707	Process	Mesoderm formation	IEA
GO:0005515	Function	Protein binding	IPI	18337501
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	10639137
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	ISS
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	12907669
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS
GO:0006487	Process	Protein N-linked glycosylation	IEA
GO:0007165	Process	Signal transduction	TAS	10878610
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	12907669
GO:0010467	Process	Gene expression	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	17761672
GO:0015014	Process	Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IMP	17761672
GO:0015020	Function	Glucuronosyltransferase activity	IDA	12907669
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016757	Function	Transferase activity, transferring glycosyl groups	IBA	21873635
GO:0016757	Function	Transferase activity, transferring glycosyl groups	IDA	12907669
GO:0030154	Process	Cell differentiation	IEA
GO:0030210	Process	Heparin biosynthetic process	IEA
GO:0033692	Process	Cellular polysaccharide biosynthetic process	IDA	12907669
GO:0042044	Process	Fluid transport	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042328	Function	Heparan sulfate N-acetylglucosaminyltransferase activity	NAS	12907669
GO:0042803	Function	Protein homodimerization activity	IDA	12907669
GO:0043541	Component	UDP-N-acetylglucosamine transferase complex	IDA	12907669
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	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	IEA
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IBA	21873635
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	NAS	12907669
GO:0050891	Process	Multicellular organismal water homeostasis	IEA
GO:0051923	Process	Sulfation	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060350	Process	Endochondral bone morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 608210
• HGNC: 3513
• e!Ensembl: ENSG00000151348

Protein

• UniProt ID: Q93063
• Protein name: Exostosin-2 (EC 2.4.1.224) (Exostosin glycosyltransferase 2) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Heparan sulfate co-polymerase subunit EXT1) (Multiple exostoses protein 2)
• Protein function: Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:22660413, PubMed:36402845, PubMed:36593275). Glycan backbone extension consists in t
• PDB: 7SCH, 7SCJ, 7SCK, 7UQX, 7UQY, 7ZAY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03016	Exostosin	100 → 380	Exostosin family	Family
  PF09258	Glyco_transf_64	456 → 701	Glycosyl transferase family 64 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8782816}.
• Sequence:

  MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEK
  RSIRDVPVVRLPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGV
  SVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRW
  DRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEV
  DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRC
  HKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKR
  ASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP
  YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVP
  SLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDD
  IIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFY
  HKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAI
  DGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL

• Sequence length: 718

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
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Chondrosarcoma	Chondrosarcoma	rs587776540, rs1586279285, rs886039356, rs1554578798, rs1817895168
Colorectal cancer	Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension	Hypertensive disease	rs13306026
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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	23439489
Multiple exostoses	EXOSTOSES, MULTIPLE, TYPE II	rs864309636, rs121918279, rs864309637, rs121918280, rs121918281, rs267606786, rs864309638, rs2130043564, rs119103287, rs119103288, rs119103289, rs119103290, rs886039353, rs1586993159, rs1586279285, rs886039356, rs886039352, rs886039744, rs886039565, rs886039358, rs886039567, rs763718818, rs886039355, rs886041272, rs886041199, rs1057521132, rs1064793854, rs1131691623, rs1554578802, rs1555002460, rs1555002457, rs1555002543, rs1363815113, rs1554601526, rs1555005328, rs1450980907, rs754533434, rs1555006433, rs1555005398, rs1565196489, rs1565205890, rs1565199251, rs1369420640, rs1564986609, rs1565196333, rs1586280132, rs1590667793, rs1565197245, rs764379119, rs1590570665, rs1590570953, rs750542485, rs1590618771, rs1590647371, rs1590548336, rs1590618958, rs569199683, rs1823353269, rs1817895168, rs1954081372, rs1954086080, rs1954088614, rs1954107890, rs1319747883, rs1954373394, rs1954375189, rs1955075568, rs765648513, rs1817893036	21520333, 9326317, 25591329, 26961984, 7726168, 8782816, 11170095, 29529714, 11169766, 10738008, 17589361, 9463333, 28849184, 25468659, 10750558, 12417417, 19344451, 25230886, 25744876, 10713884, 8894688, 11668521, 24496678, 20425833, 24628984, 27604308, 11432960, 11518722, 23439489, 23262345, 16236767, 10480354, 19810120, 10429361, 23629877, 16283885, 21310272
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Parietal foramina	PARIETAL FORAMINA	rs104894191, rs104894192, rs104894193, rs587776614, rs104894196, rs104894197, rs387906325, rs2113498725, rs104893896, rs121912971, rs121912972, rs1561643060, rs587777700, rs587777702
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizures, scoliosis, and macrocephaly syndrome	SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, Seizures-scoliosis-macrocephaly syndrome	rs121918280, rs1590667793, rs1457613214	26246518, 30075207, 12417417, 27604308
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Multiple Osteochondromas	hereditary multiple osteochondromas			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Atrophy	Stimulate	33478971
Breast Diseases	Associate	34261476
Breast Neoplasms	Associate	30054430, 34261476
Carcinoma Squamous Cell	Associate	33314711
Chondrosarcoma	Associate	19336518, 22116208
Diabetes Gestational	Associate	34928995
Diabetes Mellitus	Associate	19008344
Diabetes Mellitus Type 2	Associate	17786204, 18633108, 19008344, 22113416, 25498973, 25541963
Dwarfism Pituitary	Associate	36714562
Enchondromatosis	Associate	36676722
Exostoses	Associate	11461073, 27616605, 7668264, 7726168, 9463333
Exostoses Multiple Hereditary	Associate	10934647, 11432960, 11461073, 11896078, 16638657, 17676624, 17761672, 18165274, 19179614, 20813973, 20872591, 21533187, 21703028, 22799611, 23439489, 23629877, 24532482, 24728384, 25498973, 25541963, 26961984, 27616605, 27748933, 28690282, 28922105, 29126381, 29529714, 30632316, 30664192, 31096510, 32293802, 32705272, 33632255, 34403521, 35103870, 35106951, 35211766, 36360300, 39336760, 40225915, 9326317, 9463333
Exostoses Multiple Hereditary	Stimulate	20183548
Fibrosis	Stimulate	33478971
Frontotemporal Dementia	Associate	20183548
Genetic Diseases Inborn	Associate	35103870
Glioblastoma	Associate	36769158
Glioma	Inhibit	29104277
Glomerulonephritis	Inhibit	33478971
Glomerulonephritis Membranous	Associate	33478971, 38280123
Glycogen Storage Disease XIV	Associate	25230886
Growth Disorders	Associate	27616605
Lupus Erythematosus Systemic	Associate	38280123
Lupus Nephritis	Associate	33478971
Musculoskeletal Diseases	Associate	27616605
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	9326317
Neoplasms	Inhibit	10934647, 19179614, 25230886, 36360300, 9037597, 9326317
Neoplasms	Associate	30475948, 34261476, 36769158, 37461096, 7726168, 7726169
Neoplastic Syndromes Hereditary	Associate	11140704, 30334991, 32522262, 40407290
Neurodegenerative Diseases	Associate	20183548
Osteochondroma	Associate	20421870, 22116208
Pain	Associate	32522262
Potocki Shaffer syndrome	Associate	36555772
Proteinuria	Associate	33478971
Salter Harris Fractures	Associate	36714562
Sarcoma	Associate	37536918
Squamous Cell Carcinoma of Head and Neck	Associate	37371537