EXT2 (exostosin glycosyltransferase 2)

Gene

• Entrez ID: 2132
• Gene name: Exostosin glycosyltransferase 2
• Gene symbol: EXT2
• Synonyms (NCBI Gene): SOTV, 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	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000271	Process	Polysaccharide biosynthetic process	IDA	12907669
GO:0001503	Process	Ossification	IMP	9326317
GO:0001707	Process	Mesoderm formation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0005515	Function	Protein binding	IPI	18337501, 33961781, 35137078, 36402845, 36593275
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	10679296
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	10679296
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	12907669
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	12907669
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IDA	36593275
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	17761672
GO:0015020	Function	Glucuronosyltransferase activity	IDA	12907669
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IBA
GO:0016757	Function	Glycosyltransferase activity	IDA	12907669
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030210	Process	Heparin proteoglycan biosynthetic process	IEA
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	IDA	36593275
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IDA	36593275
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IEA
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	NAS	12907669
GO:0050891	Process	Multicellular organismal-level 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
GO:1902494	Component	Catalytic complex	IDA	10679296, 36593275

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

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Exostoses, multiple, type 2	Pathogenic; Likely pathogenic	rs2134965356, rs2134967046, rs2135014852, rs1448103584, rs1403873034, rs2135204843, rs1954091762, rs2134971524, rs2134985434, rs753973135, rs781083252, rs2134967717, rs2134965481, rs2135020654, rs2134968744, rs2135015765, rs2134985455, rs2135014654, rs2135029007, rs2135029005, rs2135127698, rs1555002457, rs2135128105, rs558968332, rs2135020617, rs2134971964, rs2134984829, rs1410604006, rs2134971478, rs2135020224, rs2134985142, rs2135015566, rs117329700, rs2539563311, rs864309636, rs121918279, rs864309637, rs121918280, rs121918281, rs267606786, rs864309638, rs2135127706, rs1393024469, rs2539521823, rs2134984550, rs1954373394, rs1565231185, rs774168080, rs2135127682, rs1194348744, rs2539515955, rs2539665065, rs2539664719, rs2135259503, rs752132275, rs570580540, rs886039744, rs886039565, rs886039358, rs886039567, rs763718818, rs886041272, rs886041199, rs2539780098, rs2539783265, rs968941427, rs2539779929, rs1350266566, rs2539733866, rs756921209, rs2539517042, rs1406801697, rs2539563253, rs2539563601, rs2135020895, rs2539577681, rs2539717285, rs2539516907, rs2539514504, rs2539577315, rs2539783884, rs1590575116, rs2539563299, rs2539664619, rs960497646, rs1057521132, rs1064793854, rs1555002460, rs1555002543, rs1555005328, rs1450980907, rs754533434, rs1555006433, rs1555005398, rs1565196489, rs1565205890, rs1565199251, rs1369420640, rs1564986609, rs1565196333, rs1590667793, rs1565197245, rs764379119, rs1590570665, rs1590570953, rs750542485, rs1590618771, rs1590647371, rs1590548336, rs1590618958, rs569199683, rs1954081372, rs1954086080, rs1954088614, rs1954107890, rs1319747883, rs1954375189, rs1955075568, rs765648513, rs1954374127, rs1954079044, rs1954081053, rs1954082764, rs1954378294, rs1954415156, rs1954470017, rs1954470670, rs767802942, rs1954412043, rs1954414269, rs751598619, rs753083913, rs1954471038, rs1955076595, rs1954372994, rs1954411419, rs1954411719, rs1191238988, rs1954108778, rs1954108641, rs1954084273, rs1955074882, rs1954415964	RCV001387737 RCV001381924 RCV001390840 RCV001386700 RCV001386701 RCV001390832 RCV002569114 RCV003497927 RCV001644551 RCV002503271 RCV001928486 RCV001881370 RCV001939416 RCV001940302 RCV002044641 RCV001993224 RCV001897508 RCV001933695 RCV001951189 RCV001953435 RCV001962993 RCV001972715 RCV001956059 RCV001889760 RCV001941265 RCV001881259 RCV001935269 RCV001965899 RCV001930304 RCV001882240 RCV001973589 RCV002039877 RCV001909292 RCV002274278 RCV002289289 RCV003774983 RCV000002575 RCV000002576 RCV000002577 RCV000002578 RCV000002579 RCV000002580 RCV000002581 RCV002466890 RCV003056730 RCV003058304 RCV003062361 RCV003058305 RCV003069165 RCV003095706 RCV003112214 RCV002604967 RCV002811636 RCV002889594 RCV002863846 RCV002898796 RCV003225826 RCV004813223 RCV003603046 RCV001859484 RCV000707279 RCV001211363 RCV000552959 RCV000527949 RCV000542457 RCV003325290 RCV003336693 RCV003467980 RCV003460053 RCV003468004 RCV003468005 RCV003468006 RCV003499966 RCV003499967 RCV003499968 RCV003499969 RCV003498328 RCV003498347 RCV003604160 RCV003604701 RCV003604762 RCV003604929 RCV003602625 RCV003602576 RCV003603833 RCV003851591 RCV004576458 RCV004586458 RCV003497846 RCV001204484 RCV000793276 RCV000535208 RCV000553165 RCV003497859 RCV001062683 RCV000641565 RCV000641564 RCV000641566 RCV000641563 RCV000705945 RCV000702149 RCV000689474 RCV000689685 RCV000693656 RCV000761234 RCV002535841 RCV000814574 RCV000804879 RCV000793215 RCV000824415 RCV000812182 RCV000819350 RCV000818168 RCV005093049 RCV001215652 RCV001034616 RCV001058089 RCV001039923 RCV001059704 RCV001057844 RCV001051787 RCV001041516 RCV001036031 RCV001069093 RCV001039837 RCV001059095 RCV001175160 RCV001215063 RCV001220127 RCV001219401 RCV001223589 RCV001221863 RCV001216582 RCV001221368 RCV001222254 RCV001209788 RCV001210746 RCV001204065 RCV001204896 RCV001209040 RCV001202921 RCV001208455 RCV001207550 RCV001218603 RCV001237549 RCV001234386 RCV001237110 RCV001232930 RCV001247830 RCV001250997 RCV001262418 RCV001263555 RCV002541631 RCV001281102	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EXT2-related disorder	Pathogenic; Likely pathogenic	rs864309636, rs121918281, rs864309638, rs763718818, rs2539562654, rs1488367942, rs754533434	RCV003415629 RCV003894785 RCV003398422 RCV003930032 RCV003412477 RCV003391481 RCV004745524	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatoblastoma	Likely pathogenic	rs2135127852	RCV001843912	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic	rs121918279	RCV000850054	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma	Likely pathogenic	rs1457613214	RCV005912375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs1954187933, rs570580540, rs1955965088	RCV003154753 RCV003154782 RCV003154809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs1064793854	RCV005899644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures-scoliosis-macrocephaly syndrome	Likely pathogenic; Pathogenic	rs753973135, rs2135015771, rs121918279, rs121918280, rs121918281, rs886039358, rs886041199, rs754533434, rs1590667793, rs1457613214, rs765648513	RCV002503271 RCV001809315 RCV000762843 RCV000791300 RCV005041972 RCV004796135 RCV002500966 RCV004796260 RCV000791304 RCV001007887 RCV002221603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs864309637	RCV005887212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 11P11.2 DELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE HEREDITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exostoses, multiple, type 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE, TYPE II	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Multiple Osteochondromatosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital exostosis	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTOCKI-SHAFFER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, SCOLIOSIS, MACROCEPHALY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33478971	Stimulate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31061139		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	27636706		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	10713884, 11256613		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	9479495		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	34261476	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30054430, 34261476	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33314711	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	10441575, 10750558, 11170095, 12239711, 15796962, 16026543, 16638657, 17226760, 18853760, 20418910, 20534475, 21804604, 21892728, 22116208, 22253766, 22285020, 25744876, 25792359, 25863260, 27636706, 9576285		★☆☆☆☆ Found in Text Mining only
Cervical myelopathy	Cervical myelopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10441575, 15796962, 19179614, 21804604, 22116208, 27636706		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	15796962, 19179614		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	19336518, 22116208	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	11903336, 15852040, 17290930, 26333423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	ORPHANET_DG	15852040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9576285		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	25230886		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26246518		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21198374		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34928995	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19008344	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21198374		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17786204, 18633108, 19008344, 22113416, 25498973, 25541963	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17786204, 18443202, 18597214, 18633108, 21510814, 22377712, 23052945, 23458876, 23871501, 25207843, 25498973, 25541963		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36714562	Associate	★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	15796962		★☆☆☆☆ Found in Text Mining only
Exostoses	Exostoses	Pubtator	11461073, 27616605, 7668264, 7726168, 9463333	Associate	★☆☆☆☆ Found in Text Mining only
Exostoses Multiple Hereditary	Exostoses	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Exostoses Multiple Hereditary	Exostoses	Pubtator	20183548	Stimulate	★☆☆☆☆ Found in Text Mining only
EXOSTOSES, MULTIPLE, TYPE II	Multiple exostoses	UNIPROT_DG	10429361, 10480354, 10738008, 11169766, 11170095, 11432960, 11668521, 19344451, 9326317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE, TYPE II	Multiple exostoses	CLINVAR_DG	10713884, 10750558, 11169766, 11170095, 11432960, 16283885, 17589361, 19344451, 19810120, 20425833, 21520333, 23262345, 23439489, 23629877, 24496678, 25230886, 25468659, 25591329, 25744876, 26961984, 28849184, 29529714, 8894688, 9326317, 9463333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE, TYPE II	Multiple exostoses	CLINGEN_DG	11169766, 11518722, 16236767, 21310272, 24628984, 8782816, 8894688, 9326317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE, TYPE II	Multiple exostoses	GENOMICS_ENGLAND_DG	12417417, 27604308, 7726168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE, TYPE II	Multiple exostoses	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	BEFREE	20183548		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	20183548	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36769158	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29104277	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30075207		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	33478971	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	33478971, 38280123	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	25230886	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27616605	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	10429361, 10671060, 10679296, 10679937, 10713884, 10750558, 10864928, 10934647, 11170095, 11432960, 11461073, 11593646, 11668521, 11903336, 12239711, 12393280, 12417417, 14654969, 15056609, 15586175, 15985493, 16026543, 16088908, 16638657, 17041877, 17589361, 18294062, 18367479, 18666861, 18853760, 19179614, 19309273, 19344451, 19810120, 19839753, 20534475, 20813973, 20872591, 21039224, 21280143, 21506131, 21533187, 21703028, 22037484, 22820392, 23262345, 23439489, 23514715, 23629877, 23771188, 23821404, 24120389, 24297320, 24370655, 24532482, 24728384, 25468659, 25498973, 25541963, 25568062, 25744876, 26961984, 27616605, 27748933, 28068429, 28445472, 28690282, 28768899, 28849184, 29277722, 29529714, 29989442, 30262140, 30632316, 30664192, 30730578, 31096510, 31211456, 7668264, 8081357, 8894688, 9150727, 9326317, 9463333		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	LHGDN	14654969, 15586175, 16638657, 17589361, 18373409, 19179614		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	CTD_human_DG	23439489		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	25568062		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	25568062		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	15056609		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30288735		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	38280123	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31061139		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	33478971	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31061139		★☆☆☆☆ Found in Text Mining only
Metachondromatosis	Metachondromatosis	BEFREE	21892728		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	22952226		★☆☆☆☆ Found in Text Mining only
Multiple osteochondromas	Multiple Osteochondromas	Orphanet			★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10639137, 12239711, 12490068, 19179614, 22037484, 23262345, 25230886, 25744876, 7726169, 8782816, 9326317, 9450183, 9756849		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20183548	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osseous ankylosis	Osseous Ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	20421870, 22116208	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28068429		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	BEFREE	15852040, 30487643		★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic bone exostoses	Pelvic bone exostoses	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	20183548		★☆☆☆☆ Found in Text Mining only
Potocki-Shaffer syndrome	Potocki-Shaffer Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Proteinuria	Pubtator	33478971	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37536918	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapular exostoses	Scapular exostoses	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME	Seizures, Scoliosis, And Macrocephaly Syndrome	GENOMICS_ENGLAND_DG	12417417, 27604308, 30075207		★☆☆☆☆ Found in Text Mining only
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME	Seizures, Scoliosis, And Macrocephaly Syndrome	UNIPROT_DG	26246518		★☆☆☆☆ Found in Text Mining only
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME	Seizures, Scoliosis, And Macrocephaly Syndrome	ORPHANET_DG	26246518		★☆☆☆☆ Found in Text Mining only
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME	Seizures, Scoliosis, And Macrocephaly Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Seizures-scoliosis-macrocephaly syndrome	Seizures, Scoliosis, And Macrocephaly Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37371537	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only