EXT1 (exostosin glycosyltransferase 1)

Gene

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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
USF1	Unknown	22037484

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS	12907669
GO:0000271	Process	Polysaccharide biosynthetic process	IDA	12907669
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	IMP	7550340
GO:0001958	Process	Endochondral ossification	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002067	Process	Glandular epithelial cell differentiation	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002524	Process	Hypersensitivity	IEA
GO:0003128	Process	Heart field specification	IEA
GO:0003415	Process	Chondrocyte hypertrophy	IEA
GO:0003416	Process	Endochondral bone growth	IEA
GO:0005515	Function	Protein binding	IPI	33961781, 35137078, 36402845, 36593275
GO:0005783	Component	Endoplasmic reticulum	IDA	9620772, 10679296
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	9620772
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	10679296
GO:0005794	Component	Golgi apparatus	IDA	10639137
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	12907669
GO:0006486	Process	Protein glycosylation	IEA
GO:0007033	Process	Vacuole organization	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007420	Process	Brain development	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009615	Process	Response to virus	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IDA	9620772, 10639137, 36593275
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	17761672
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	ISS
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0017145	Process	Stem cell division	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0022405	Process	Hair cycle process	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030166	Process	Proteoglycan biosynthetic process	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030202	Process	Heparin proteoglycan metabolic process	IEA
GO:0030210	Process	Heparin proteoglycan biosynthetic process	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0032836	Process	Glomerular basement membrane development	IEA
GO:0033627	Process	Cell adhesion mediated by integrin	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0036022	Process	Limb joint morphogenesis	IEA
GO:0036336	Process	Dendritic cell migration	IEA
GO:0036339	Process	Lymphocyte adhesion to endothelial cell of high endothelial venule	IEA
GO:0042044	Process	Fluid transport	IEA
GO:0042060	Process	Wound healing	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042328	Function	Heparan sulfate N-acetylglucosaminyltransferase activity	NAS	12907669
GO:0042596	Process	Fear response	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	12907669
GO:0043931	Process	Ossification involved in bone maturation	IEA
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045202	Component	Synapse	IEA
GO:0045453	Process	Bone resorption	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	12907669
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048733	Process	Sebaceous gland development	IEA
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	IDA	12907669
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISS
GO:0050508	Function	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	NAS	12907669
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IDA	12907669, 36593275
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IEA
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	ISS
GO:0050509	Function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	NAS	12907669
GO:0050654	Process	Chondroitin sulfate proteoglycan metabolic process	IEA
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEA
GO:0050901	Process	Leukocyte tethering or rolling	IEA
GO:0051923	Process	Sulfation	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060218	Process	Hematopoietic stem cell differentiation	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060350	Process	Endochondral bone morphogenesis	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060485	Process	Mesenchyme development	IEA
GO:0060506	Process	Smoothened signaling pathway involved in lung development	IEA
GO:0060560	Process	Developmental growth involved in morphogenesis	IEA
GO:0060792	Process	Sweat gland development	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0061974	Process	Perichondral bone morphogenesis	IEA
GO:0062094	Process	Stomach development	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0070593	Process	Dendrite self-avoidance	IEA
GO:0070848	Process	Response to growth factor	IEA
GO:0071503	Process	Response to heparin	IEA
GO:0071625	Process	Vocalization behavior	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0072498	Process	Embryonic skeletal joint development	IEA
GO:0097021	Process	Lymphocyte migration into lymphoid organs	IEA
GO:0097241	Process	Hematopoietic stem cell migration to bone marrow	IEA
GO:0098586	Process	Cellular response to virus	IEA
GO:0098868	Process	Bone growth	IEA
GO:0120193	Process	Tight junction organization	IEA
GO:1901706	Process	Mesenchymal cell differentiation involved in bone development	IEA
GO:1902494	Component	Catalytic complex	IDA	10679296, 36593275
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990823	Process	Response to leukemia inhibitory factor	IEA

Other IDs

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

Protein

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

  Pfam

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

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

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

• Sequence length: 746

Pathways

KEGG:

Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways

Reactome:

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

Associated diseases

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
Abnormality of the skeletal system	Likely pathogenic	rs2129786203	RCV001814437	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chondrosarcoma	Pathogenic; Likely pathogenic	rs2130041954, rs119103287, rs587776540, rs119103290, rs1586279285, rs2488052466, rs2488089183, rs886039356, rs886039355, rs886039486, rs2129693279, rs2488085202, rs2488051258, rs1554578798, rs1817895168, rs1823138986, rs1811865335	RCV004796629 RCV005031383 RCV000002603 RCV005031384 RCV003478970 RCV004571793 RCV003225816 RCV004567807 RCV004796134 RCV002494802 RCV002487173 RCV003460043 RCV003467977 RCV004576432 RCV002267737 RCV003473617 RCV001197708 RCV001199164	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic	rs1811889441	RCV005917898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exostoses	Pathogenic	rs1823350857	RCV004798884	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exostoses, multiple, type 1	Pathogenic; Likely pathogenic	rs2130041954, rs1811889441, rs1817872132, rs2130042099, rs2130042673, rs2129694265, rs2130043564, rs119103287, rs119103288, rs119103289, rs119103290, rs886039353, rs1586993159, rs1586279285, rs775712594, rs2488132886, rs2488052150, rs886039356, rs886039355, rs886039352, rs886039486, rs2488096529, rs755694640, rs2488135146, rs2488051212, rs1350817754, rs2488135393, rs2488113674, rs1823350857, rs1131691623, rs1554578802, rs1363815113, rs1554601526, rs1586280132, rs1823353269, rs1812078315, rs1817895168, rs1817893036, rs1823138986, rs1823253516, rs1811890821, rs1823255835	RCV004796629 RCV005867192 RCV004796694 RCV002267784 RCV002052087 RCV002272716 RCV000002600 RCV001003502 RCV001003501 RCV000002605 RCV001003500 RCV000002607 RCV000002608 RCV000002609 RCV005254697 RCV003157981 RCV003224955 RCV001003498 RCV004796134 RCV001263553 RCV004689697 RCV002494802 RCV002487173 RCV003314463 RCV003325250 RCV003336687 RCV003336694 RCV003989842 RCV003494096 RCV003990017 RCV004006231 RCV004820852 RCV001003499 RCV003458465 RCV000585681 RCV000791243 RCV005253131 RCV002471030 RCV005622053 RCV003152746 RCV002290596 RCV003989645 RCV005050300 RCV003313999 RCV002290648 RCV004527418	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EXT1-related disorder	Pathogenic; Likely pathogenic	rs2130042099, rs119103290, rs119103287, rs2488109170, rs1350817754, rs2488085568, rs2488135151, rs2488053110, rs2488052574, rs2488085755, rs2488132799, rs1363815113, rs1563873580	RCV003395320 RCV004739279 RCV004739643 RCV003404191 RCV003400372 RCV003403095 RCV003427783 RCV003402139 RCV003405927 RCV003982799 RCV003899255 RCV004740342 RCV003393898	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple congenital exostosis	Likely pathogenic; Pathogenic	rs1817876107, rs1817879832, rs2129791337, rs1182900059, rs2129791225, rs2129693616, rs2129694129, rs2129700894, rs2129701119, rs1823255835, rs2129740749, rs1811943967, rs2129786157, rs2129786342, rs2129786671, rs978347552, rs2130039927, rs2130041954, rs2130042109, rs2130042921, rs1817879250, rs2130043699, rs2130043834, rs2130044431, rs2130044984, rs2130045851, rs1811889441, rs1811893325, rs2129749657, rs2129749620, rs1817881221, rs2130042609, rs2130041053, rs2129790994, rs2129786574, rs2129701760, rs2129701239, rs2130044416, rs2130041831, rs1817872132, rs377162411, rs757115396, rs2129772259, rs2129679904, rs2130041790, rs2129749144, rs2130041891, rs2129748931, rs2130043930, rs759834555, rs2129694149, rs2129740737, rs1823352107, rs2130042099, rs886039352, rs2129736434, rs2130042549, rs2129701251, rs2129772368, rs1587003662, rs2130041164, rs2129720355, rs2129741436, rs2129786122, rs2130042421, rs2130043872, rs2129736985, rs2130043334, rs2129720016, rs2130043490, rs2129786098, rs2129786370, rs2130041540, rs1817876148, rs2129786583, rs2130042683, rs2129701642, rs119103287, rs119103288, rs119103290, rs886039353, rs1586279285, rs2129720069, rs2488106908, rs2488125890, rs2130042381, rs2130042953, rs1817881722, rs786205593, rs775712594, rs2488089054, rs2488132886, rs2488051618, rs1554601483, rs2488052228, rs2488050909, rs2488126304, rs2488135179, rs2488089253, rs2488053858, rs1812078423, rs2488052466, rs2488106446, rs971844997, rs2488113882, rs2488113598, rs760899584, rs2488053146, rs2488089187, rs2129736695, rs2488089155, rs2488051750, rs2488096579, rs2488054045, rs886039357, rs886039356, rs886039355, rs886039354, rs886039486, rs886039561, rs2488089211, rs2488052905, rs2488109312, rs2488051693, rs2488050343, rs2488085721, rs2488052028, rs119103289, rs2488052589, rs2488113860, rs2488089247, rs2488089308, rs2488096467, rs1823350857, rs2488096787, rs2488113578, rs2130041565, rs2488089392, rs2488085680, rs2488109265, rs2488053876, rs2488051887, rs2129772077, rs2129791072, rs2488050974, rs2488050898, rs2488096615, rs2488109042, rs2488096689, rs2488132966, rs2488052516, rs2488053868, rs2488113917, 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, 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, rs1586990361, rs1586990398, rs1369118661, rs1586280217, rs1586989189, rs1823212594, rs1823212809, rs1823253080, rs1718310043, rs1823253698, rs1823254238, rs1823254431, rs1823350888, rs1823352329, rs1823353269, rs1811864784, rs1811940788, rs1812075737, rs1812077342, rs561006425, rs1812078315, rs1812173838, rs1812174128, rs1812200035, rs1812200901, rs1817867776, rs1817878703, rs1817879125, rs982804750, rs1817884791, rs1817885411, rs1817887343, rs1817889027, rs1817893887, rs1817895168, rs1811893467, rs1823251224, rs1823251265, rs1823350795, rs1823354043, rs1817893036, rs1811865335, rs1823137578, rs1823212414, rs1823212774, rs1823215251, rs1586993117, rs1811940837, rs1811940928, rs1811942574, rs1812076996, rs1812077295, rs1817872999, rs1817881036, rs1817891356, rs1817892723, rs764093488, rs1823213816, rs1823214768, rs1811941012, rs1811942900, rs1812173037, rs1817866954, rs1817871338, rs1817873582, rs1817876363, rs1817884837, rs1817890492, rs1823137520, rs1563873580, rs1823253013, rs1823253516, rs1823351882, rs1823353089, rs1811863055, rs1383256196, rs1811890821, rs1811942117, rs1811943921, rs1812199676, rs1817868370, rs759708614, rs1817873443, rs1817873681, rs1817874249, rs1817882619, rs1823213767, rs1812076915, rs1817870176, rs1817870237, rs1817873963, rs1811862827, rs1811892597, rs763608530	RCV001320381 RCV001348233 RCV001358969 RCV001375854 RCV001377588 RCV001381631 RCV001388983 RCV001381043 RCV001380342 RCV001381392 RCV001380694 RCV001381905 RCV001386492 RCV001380813 RCV001384285 RCV001384286 RCV001380462 RCV001389296 RCV001388453 RCV001380102 RCV001381099 RCV001386695 RCV003499264 RCV001384372 RCV001389768 RCV001382276 RCV003497924 RCV003497940 RCV001799546 RCV001799547 RCV001807849 RCV001810535 RCV001823666 RCV001999802 RCV001872754 RCV001938217 RCV001906262 RCV001958159 RCV001931423 RCV001953870 RCV001953877 RCV001958909 RCV002044514 RCV001874598 RCV001993252 RCV002037878 RCV001994722 RCV002007495 RCV002007595 RCV002007597 RCV001962913 RCV001939687 RCV001942227 RCV001941982 RCV001942031 RCV002037966 RCV001960516 RCV001970198 RCV001878574 RCV001931613 RCV001949329 RCV001941499 RCV001953659 RCV001947090 RCV001972606 RCV001972607 RCV001975224 RCV001963096 RCV001959121 RCV001959186 RCV001963168 RCV001934839 RCV001981820 RCV001958714 RCV001958715 RCV001949614 RCV001949615 RCV001930287 RCV001876462 RCV001927981 RCV000002601 RCV000002604 RCV000002606 RCV001239443 RCV005089148 RCV003062173 RCV003062174 RCV003062176 RCV003062178 RCV003058203 RCV003062180 RCV003037304 RCV003037305 RCV001057521 RCV003079090 RCV003112744 RCV003112199 RCV002828492 RCV002856119 RCV002851306 RCV002894106 RCV002852182 RCV002847869 RCV002917761 RCV002890159 RCV002882013 RCV002882072 RCV002922578 RCV002923712 RCV003012537 RCV003008046 RCV003042290 RCV003045929 RCV003030000 RCV003051999 RCV003046967 RCV003050438 RCV003056384 RCV003050322 RCV001223213 RCV000702125 RCV000821985 RCV001859477 RCV000630812 RCV001224730 RCV001859476 RCV000538727 RCV001859483 RCV000697332 RCV003389441 RCV003498128 RCV003498269 RCV003498023 RCV003498202 RCV003499045 RCV003499221 RCV003499654 RCV003499958 RCV003499959 RCV003499960 RCV003497712 RCV003499950 RCV003499951 RCV003499952 RCV003499953 RCV003499954 RCV003499955 RCV003499956 RCV003499957 RCV003497336 RCV003497348 RCV003498459 RCV003498460 RCV003498768 RCV003499311 RCV003499368 RCV003499497 RCV003603229 RCV003604226 RCV003604244 RCV003604240 RCV003604489 RCV003604723 RCV003602559 RCV003603748 RCV003855127 RCV000800945 RCV000692334 RCV003497851 RCV001384344 RCV000518490 RCV001206165 RCV000799887 RCV001857953 RCV000536837 RCV000553496 RCV000531791 RCV000528007 RCV000554263 RCV000539518 RCV000551584 RCV000630806 RCV000691886 RCV001069596 RCV001382617 RCV001225072 RCV001236310 RCV000630808 RCV000630811 RCV000630818 RCV000630807 RCV000630815 RCV000630813 RCV000630805 RCV000630809 RCV000630814 RCV000630810 RCV000630803 RCV000630816 RCV000693405 RCV000699208 RCV000690444 RCV000685852 RCV000686140 RCV000688480 RCV000705577 RCV000690057 RCV000690693 RCV000686425 RCV000692001 RCV000707688 RCV000688370 RCV000704322 RCV000781341 RCV000816709 RCV000803549 RCV000820160 RCV000816960 RCV000805681 RCV000813609 RCV000794686 RCV000791680 RCV000816812 RCV000796238 RCV000798252 RCV000800416 RCV000809663 RCV000821360 RCV000802380 RCV000800157 RCV000795566 RCV000796470 RCV000809081 RCV000813901 RCV000793605 RCV000991070 RCV001226441 RCV001386491 RCV001214528 RCV001030025 RCV001034929 RCV001054605 RCV001045430 RCV001048915 RCV001069092 RCV001059425 RCV001050119 RCV001061701 RCV001042295 RCV001069870 RCV001057357 RCV001070256 RCV001056978 RCV001045567 RCV001071268 RCV001050372 RCV001039109 RCV001051617 RCV001046704 RCV001058445 RCV001060732 RCV001039947 RCV001066050 RCV001049881 RCV001062230 RCV001054847 RCV001057241 RCV001038953 RCV001051975 RCV001055562 RCV001058439 RCV001062963 RCV001038425 RCV001070102 RCV001065732 RCV001048523 RCV001057361 RCV001071945 RCV001039904 RCV001090008 RCV001230148 RCV005093463 RCV001253631 RCV001528142 RCV001221029 RCV001217392 RCV001221028 RCV001217974 RCV001225197 RCV001218340 RCV001224323 RCV001217177 RCV001222439 RCV001216058 RCV001224854 RCV001225043 RCV001223208 RCV001218830 RCV001214827 RCV001223750 RCV001218914 RCV001218625 RCV001205936 RCV001207642 RCV001205555 RCV001207817 RCV001211728 RCV001211165 RCV001204040 RCV001208454 RCV001205362 RCV001202505 RCV001203274 RCV001204281 RCV001205071 RCV001228610 RCV001226097 RCV001227957 RCV001233427 RCV001236932 RCV001232587 RCV001235218 RCV001225753 RCV001237335 RCV001237964 RCV001235920 RCV001230822 RCV001233740 RCV001225381 RCV001238798 RCV001228250 RCV001234049 RCV001237679 RCV001242679 RCV001246657 RCV001246271 RCV001244194 RCV001239862 RCV001235525 RCV001231309 RCV001246988 RCV001248809 RCV001261514 RCV005094275 RCV002537726	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs1131691623	RCV005899784 RCV005901661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs1817875217	RCV003154771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE HEREDITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE, TYPE I	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Multiple Osteochondromatosis	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Langer-Giedion syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHORHINOPHALANGEAL SYNDROME TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27229929, 31465316		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18000363		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27229929, 31465316		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	25421521		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29157673		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33478971	Stimulate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12032595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	12032595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	12032595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17110309, 31061139		★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33314711	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	10713884, 11256613		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	36866988	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	11114076, 28448806, 9479495		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	36866988	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly Type E	Brachydactyly	Pubtator	40589517	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27744520, 30054430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30054430	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	10934647	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31200735	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30278583, 37308486	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31200735	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33314711	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	10398153, 10441575, 10750558, 11170095, 12110435, 12151882, 12239711, 12393280, 12645631, 15385438, 15796962, 16026543, 16622899, 16638657, 17226760, 17341731, 18216313, 18853760, 20080592, 20418910, 20421870, 20534475, 20813973, 21039224, 21499719, 21804604, 22285020, 25863260, 28445472, 28768899, 29277722, 29545125, 30544937, 30806661, 31842965, 9576285		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	LHGDN	17341731		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	17143621		★☆☆☆☆ Found in Text Mining only
Cervical myelopathy	Cervical myelopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27229929, 31465316		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	19700940		★☆☆☆☆ Found in Text Mining only
Chondroma	Chondroma	BEFREE	24009674		★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	24009674	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10398153, 10750558, 11114076, 11432960, 15385438, 15796962, 17226760, 19179614, 21804604, 22116208, 22258776, 25744876, 7550340, 7726169, 8981950, 9242219		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	GENOMICS_ENGLAND_DG	10441575, 23770606, 29529714		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	Pubtator	11432960, 19336518, 22116208, 7726169, 8981950	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	LHGDN	15796962, 19179614		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	UNIPROT_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrosarcoma	Chondrosarcoma	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Compression of spinal cord	Spinal cord compression	BEFREE	21039224		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	25421521		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of tibia	Tibial hemimelia	BEFREE	10398269		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	26522117, 7711731		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9242219, 9576285		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	7711731		★☆☆☆☆ Found in Text Mining only
CORNELIA DE LANGE SYNDROME 4	Cornelia De Lange Syndrome	BEFREE	26522117		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	26522117, 32296131	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25541963		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36866988	Associate	★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	15253765, 15796962, 21533187		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	9949954		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	11844713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exostoses	Exostoses	Pubtator	11461073, 27616605, 7668264, 7726169, 8981950, 9463333	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exostoses	Exostoses	Pubtator	18452536	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exostoses Multiple Hereditary	Exostoses	Pubtator	10441575, 10934647, 11432960, 11896078, 16638657, 17676624, 17761672, 18165274, 19179614, 20618940, 20813973, 20872591, 21533187, 21703028, 22799611, 23439489, 23629877, 24009674, 24532482, 24728384, 25421355, 25498973, 25541963, 26961984, 27616605, 28035357, 28690282, 28922105, 29126381, 29529714, 30334991, 30632316, 30664192, 31096510, 32293802, 33632255, 34403521, 35103870, 35106951, 36360300, 36443465, 36676722, 39336760, 40225915, 9326317, 9463333	Associate	★☆☆☆☆ Found in Text Mining only
Exostoses Multiple Hereditary	Exostoses	Pubtator	18452536	Stimulate	★☆☆☆☆ Found in Text Mining only
EXOSTOSES, MULTIPLE, TYPE II	Multiple exostoses	BEFREE	11256613, 21039224, 23262345, 30806661		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	20183548		★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	12436479		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29104277		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29104277	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	33478971	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	33478971, 38154829, 38280123	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	25230886	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	15133472	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	10398153, 10429361, 10502322, 10545594, 10615131, 10639137, 10679296, 10713884, 10739291, 10750558, 10878610, 10926768, 10934647, 11114076, 11170095, 11391482, 11432960, 11593646, 11668521, 12110435, 12239711, 12393280, 12417417, 12490068, 14654969, 15056609, 15253765, 15385438, 15586175, 15985493, 16026543, 16088908, 16476576, 16622899, 16638657, 17041877, 17341731, 17589361, 18216313, 18330718, 18367479, 18452536, 18853760, 19179614, 19309273, 19344451, 19700940, 19810120, 19839753, 20534475, 20578942, 20618940, 20813973, 20872591, 21039224, 21280143, 21533187, 21703028, 22037484, 22040554, 22799611, 22820392, 23262345, 23341036, 23439489, 23514715, 23629877, 23771188, 23821404, 24009674, 24120389, 24297320, 24532482, 24728384, 25421355, 25468659, 25498973, 25541963, 25568062, 25744876, 25792522, 26961984, 27616605, 28035357, 28445472, 28690282, 28768899, 28849184, 29277722, 29529714, 29989442, 30250583, 30262140, 30632316, 30664192, 31096510, 31211456, 7711731, 8894688, 8981950, 9037597, 9150727, 9326317, 9463333, 9521425, 9703997		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	UNIPROT_DG	10441575, 10480354, 11169766, 8981950, 9326317, 9463333, 9521425		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	CLINVAR_DG	10639137, 10679296, 10679937, 10713884, 11170095, 11391482, 11432960, 12490068, 15586175, 16283885, 17041877, 17301954, 1816274, 18165274, 18330718, 18373409, 19810120, 19839753, 22258776, 23439489, 24532482, 25468659, 25541963, 26239617, 26515642, 26690531, 26961984, 7550340, 8981950, 9150727, 9326317, 9463333, 9521425, 9620772		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	CLINGEN_DG	11518722, 20534475, 21310272, 28445472, 7550340, 8981950, 9326317		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	LHGDN	12032595, 15586175, 15985493, 16638657, 17589361, 17676624, 18216313, 18373409, 18810975, 18976157, 19179614		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	GENOMICS_ENGLAND_DG	12417417, 27604308, 2788404, 7550340		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	CTD_human_DG	20080592, 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
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	31211456		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34637697	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	16014546		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12032595, 25792522		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	9138161	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29785705		★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	10615131, 12457403, 18478595, 19464398, 21948702, 22315192, 23832104, 25899858, 26522117, 29785705, 7711731, 8530105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Langer-Giedion Syndrome	Langer-Giedion Syndrome	GENOMICS_ENGLAND_DG	7550340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Langer-Giedion Syndrome	Langer-Giedion Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	29785705		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15385438		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23733339	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30278583, 31200735, 9861559		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31200735		★☆☆☆☆ 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, 38154829	Associate	★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27744520		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10398153, 10825005, 15385438, 26120938, 29050299, 30278583, 8981950		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36982528	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31061139		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	12032595		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12032595		★☆☆☆☆ Found in Text Mining only
Metachondromatosis	Metachondromatosis	BEFREE	16622899		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	36676722	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	22952226		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19965677, 29212806		★☆☆☆☆ Found in Text Mining only
Multiple osteochondromas	Multiple Osteochondromas	Orphanet			★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	23733339	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10398153, 10545594, 10639137, 10679937, 10739291, 10750558, 12239711, 15385438, 17143621, 17341731, 18271966, 19179614, 19700940, 21506131, 22025563, 22037484, 28448806, 29580921, 30278583, 31465316, 7550340, 7726168, 9150727, 9307185, 9463333, 9620772, 9756849		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	18216313		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	38154829	Associate	★☆☆☆☆ Found in Text Mining only
Osseous ankylosis	Osseous Ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	10441575, 20421870, 20813973, 22116208	Associate	★☆☆☆☆ Found in Text Mining only
Osteopoikilosis	Osteopoikilosis	Pubtator	20618940	Associate	★☆☆☆☆ Found in Text Mining only
Osteopoikilosis (disorder)	Osteopoikilosis	BEFREE	20618940		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15985493		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15385438, 28068429		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pelvic bone exostoses	Pelvic bone exostoses	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	20183548		★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	9138161	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26890304	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	33478971	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	12110792		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16014546		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37536918	Associate	★☆☆☆☆ Found in Text Mining only
Scapular exostoses	Scapular exostoses	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27613888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	21039224		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26808319		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	18216313		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichorhinophalangeal syndrome type 2	Trichorhinophalangeal Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	BEFREE	12691541		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only