HSPG2 (heparan sulfate proteoglycan 2)

Gene

• Entrez ID: 3339
• Gene name: Heparan sulfate proteoglycan 2
• Gene symbol: HSPG2
• Synonyms (NCBI Gene): HSPG, PLC, PRCAN, SJA, SJS, SJS1
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229490	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs55875654	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs62642527	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs62642535	T>A,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111866498	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113652076	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137853248	C>T	Pathogenic	Missense variant, coding sequence variant
rs138518139	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139794766	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs139838884	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs139842104	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs142433309	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs142736845	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143109401	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143437991	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143669458	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147286334	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149159881	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150129885	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs189837148	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201491948	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369899077	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376929779	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs534949106	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs535956121	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs745452577	G>A	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant
rs756733330	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs762281715	G>A	Pathogenic	Stop gained, coding sequence variant
rs763945561	G>-,GG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs778653296	C>A,T	Pathogenic	Splice donor variant
rs868479224	C>A,T	Likely-pathogenic	Splice acceptor variant
rs886039909	C>T	Likely-pathogenic	Intron variant
rs886041667	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044168	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs927473035	C>A,T	Pathogenic	Splice donor variant
rs1064795546	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1373848573	C>A	Likely-pathogenic	Splice donor variant
rs1572204991	T>C	Pathogenic	Intron variant
rs1572220282	T>C	Pathogenic	Intron variant
rs1572304438	AAAGTTGCCAAAAGAGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572319254	TC>A	Pathogenic	Coding sequence variant, frameshift variant
rs1572356343	C>T	Likely-pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007259	hsa-miR-663a	Luciferase reporter assay	23436656
MIRT007259	hsa-miR-663a	Luciferase reporter assay	23436656
MIRT007259	hsa-miR-663a	Luciferase reporter assay	23436656
MIRT018272	hsa-miR-335-5p	Microarray	18185580
MIRT440478	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440478	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1057004	hsa-miR-1207-5p	CLIP-seq
MIRT1057005	hsa-miR-1285	CLIP-seq
MIRT1057006	hsa-miR-1294	CLIP-seq
MIRT1057007	hsa-miR-183	CLIP-seq
MIRT1057008	hsa-miR-2392	CLIP-seq
MIRT1057009	hsa-miR-296-5p	CLIP-seq
MIRT1057010	hsa-miR-3151	CLIP-seq
MIRT1057011	hsa-miR-3187-5p	CLIP-seq
MIRT1057012	hsa-miR-3622b-5p	CLIP-seq
MIRT1057013	hsa-miR-3665	CLIP-seq
MIRT1057014	hsa-miR-3689d	CLIP-seq
MIRT1057015	hsa-miR-378g	CLIP-seq
MIRT1057016	hsa-miR-4252	CLIP-seq
MIRT1057017	hsa-miR-4277	CLIP-seq
MIRT1057018	hsa-miR-4314	CLIP-seq
MIRT1057019	hsa-miR-4316	CLIP-seq
MIRT1057020	hsa-miR-4447	CLIP-seq
MIRT1057021	hsa-miR-4472	CLIP-seq
MIRT1057022	hsa-miR-4486	CLIP-seq
MIRT1057023	hsa-miR-4488	CLIP-seq
MIRT1057024	hsa-miR-4514	CLIP-seq
MIRT1057025	hsa-miR-4536	CLIP-seq
MIRT1057026	hsa-miR-4667-5p	CLIP-seq
MIRT1057027	hsa-miR-4691-3p	CLIP-seq
MIRT1057028	hsa-miR-4692	CLIP-seq
MIRT1057029	hsa-miR-4697-5p	CLIP-seq
MIRT1057030	hsa-miR-4700-5p	CLIP-seq
MIRT1057031	hsa-miR-4736	CLIP-seq
MIRT1057032	hsa-miR-4763-3p	CLIP-seq
MIRT1057033	hsa-miR-486-3p	CLIP-seq
MIRT1057034	hsa-miR-491-5p	CLIP-seq
MIRT1057035	hsa-miR-612	CLIP-seq
MIRT1057036	hsa-miR-637	CLIP-seq
MIRT1057037	hsa-miR-764	CLIP-seq
MIRT1057038	hsa-miR-940	CLIP-seq
MIRT1549683	hsa-miR-1281	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT1549685	hsa-miR-15a	CLIP-seq
MIRT1549686	hsa-miR-15b	CLIP-seq
MIRT1549687	hsa-miR-16	CLIP-seq
MIRT1549688	hsa-miR-195	CLIP-seq
MIRT1549689	hsa-miR-424	CLIP-seq
MIRT1057016	hsa-miR-4252	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT1057023	hsa-miR-4488	CLIP-seq
MIRT1549691	hsa-miR-4524	CLIP-seq
MIRT1549692	hsa-miR-4642	CLIP-seq
MIRT1057026	hsa-miR-4667-5p	CLIP-seq
MIRT1549693	hsa-miR-4690-3p	CLIP-seq
MIRT1057029	hsa-miR-4697-5p	CLIP-seq
MIRT1057030	hsa-miR-4700-5p	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT1549695	hsa-miR-497	CLIP-seq
MIRT1549696	hsa-miR-503	CLIP-seq
MIRT1549697	hsa-miR-545	CLIP-seq
MIRT1549698	hsa-miR-622	CLIP-seq
MIRT1057036	hsa-miR-637	CLIP-seq
MIRT1549699	hsa-miR-646	CLIP-seq
MIRT2013027	hsa-miR-1287	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT2013028	hsa-miR-1915	CLIP-seq
MIRT2013029	hsa-miR-1976	CLIP-seq
MIRT2013030	hsa-miR-3155	CLIP-seq
MIRT2013031	hsa-miR-3155b	CLIP-seq
MIRT2013032	hsa-miR-3158-5p	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT2013033	hsa-miR-4487	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT2013034	hsa-miR-484	CLIP-seq
MIRT1057004	hsa-miR-1207-5p	CLIP-seq
MIRT2245322	hsa-miR-1231	CLIP-seq
MIRT2245323	hsa-miR-1267	CLIP-seq
MIRT1549683	hsa-miR-1281	CLIP-seq
MIRT2013027	hsa-miR-1287	CLIP-seq
MIRT2245324	hsa-miR-1289	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT1549685	hsa-miR-15a	CLIP-seq
MIRT1549686	hsa-miR-15b	CLIP-seq
MIRT1549687	hsa-miR-16	CLIP-seq
MIRT2013028	hsa-miR-1915	CLIP-seq
MIRT1549688	hsa-miR-195	CLIP-seq
MIRT2013029	hsa-miR-1976	CLIP-seq
MIRT2245325	hsa-miR-2114	CLIP-seq
MIRT2245326	hsa-miR-3141	CLIP-seq
MIRT2013030	hsa-miR-3155	CLIP-seq
MIRT2013031	hsa-miR-3155b	CLIP-seq
MIRT2013032	hsa-miR-3158-5p	CLIP-seq
MIRT2245327	hsa-miR-3160-3p	CLIP-seq
MIRT2245328	hsa-miR-323-5p	CLIP-seq
MIRT2245329	hsa-miR-3675-5p	CLIP-seq
MIRT1057014	hsa-miR-3689d	CLIP-seq
MIRT1549689	hsa-miR-424	CLIP-seq
MIRT2245330	hsa-miR-4288	CLIP-seq
MIRT2245331	hsa-miR-4292	CLIP-seq
MIRT2245332	hsa-miR-4308	CLIP-seq
MIRT2245333	hsa-miR-4443	CLIP-seq
MIRT1057020	hsa-miR-4447	CLIP-seq
MIRT1057021	hsa-miR-4472	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT2013033	hsa-miR-4487	CLIP-seq
MIRT1057023	hsa-miR-4488	CLIP-seq
MIRT2245334	hsa-miR-4492	CLIP-seq
MIRT2245335	hsa-miR-4498	CLIP-seq
MIRT2245336	hsa-miR-4505	CLIP-seq
MIRT1549691	hsa-miR-4524	CLIP-seq
MIRT1549692	hsa-miR-4642	CLIP-seq
MIRT2245337	hsa-miR-4661-5p	CLIP-seq
MIRT1057026	hsa-miR-4667-5p	CLIP-seq
MIRT2245338	hsa-miR-4685-5p	CLIP-seq
MIRT1057029	hsa-miR-4697-5p	CLIP-seq
MIRT1057030	hsa-miR-4700-5p	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT1057032	hsa-miR-4763-3p	CLIP-seq
MIRT2013034	hsa-miR-484	CLIP-seq
MIRT1057033	hsa-miR-486-3p	CLIP-seq
MIRT1057034	hsa-miR-491-5p	CLIP-seq
MIRT1549695	hsa-miR-497	CLIP-seq
MIRT1549696	hsa-miR-503	CLIP-seq
MIRT2245339	hsa-miR-520d-5p	CLIP-seq
MIRT2245340	hsa-miR-524-5p	CLIP-seq
MIRT1549697	hsa-miR-545	CLIP-seq
MIRT2245341	hsa-miR-558	CLIP-seq
MIRT2245342	hsa-miR-600	CLIP-seq
MIRT2245343	hsa-miR-632	CLIP-seq
MIRT1057036	hsa-miR-637	CLIP-seq
MIRT1549699	hsa-miR-646	CLIP-seq
MIRT2245344	hsa-miR-762	CLIP-seq
MIRT2245345	hsa-miR-765	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT1057014	hsa-miR-3689d	CLIP-seq
MIRT1057020	hsa-miR-4447	CLIP-seq
MIRT1057021	hsa-miR-4472	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT2245334	hsa-miR-4492	CLIP-seq
MIRT2245335	hsa-miR-4498	CLIP-seq
MIRT2245336	hsa-miR-4505	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT1057033	hsa-miR-486-3p	CLIP-seq
MIRT2245344	hsa-miR-762	CLIP-seq
MIRT2451452	hsa-miR-125a-5p	CLIP-seq
MIRT2451453	hsa-miR-125b	CLIP-seq
MIRT2451454	hsa-miR-1321	CLIP-seq
MIRT2451455	hsa-miR-3126-5p	CLIP-seq
MIRT2451456	hsa-miR-4319	CLIP-seq
MIRT2451457	hsa-miR-4419a	CLIP-seq
MIRT2451458	hsa-miR-4510	CLIP-seq
MIRT2451459	hsa-miR-4728-5p	CLIP-seq
MIRT2451460	hsa-miR-4739	CLIP-seq
MIRT2451461	hsa-miR-4756-5p	CLIP-seq
MIRT2451462	hsa-miR-544b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001540	Function	Amyloid-beta binding	IC	21289173
GO:0001666	Process	Response to hypoxia	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0005178	Function	Integrin binding	TAS	21126803
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11956183, 12604605, 21596751, 23374253
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	TAS	8621634, 21126803
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006629	Process	Lipid metabolic process	TAS	21289173
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006954	Process	Inflammatory response	TAS	21126803
GO:0007162	Process	Negative regulation of cell adhesion	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	21126803
GO:0007566	Process	Embryo implantation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016525	Process	Negative regulation of angiogenesis	TAS	21126803
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	ISS
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	TAS	21126803
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	ISS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IGI	21126803
GO:0046872	Function	Metal ion binding	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	TAS	21289173
GO:0070052	Function	Collagen V binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 21362503, 23533145
GO:0072359	Process	Circulatory system development	IEA
GO:0072359	Process	Circulatory system development	TAS	21126803
GO:0098797	Component	Plasma membrane protein complex	TAS	21289173
GO:1905907	Process	Negative regulation of amyloid fibril formation	IGI	21126803

Other IDs

• MIM: 142461
• HGNC: 5273
• e!Ensembl: ENSG00000142798

Protein

• UniProt ID: P98160
• Protein name: Basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) (Perlecan) (PLC) [Cleaved into: Endorepellin; LG3 peptide]
• Protein function: Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as
• PDB: 3SH4, 3SH5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	197 → 234	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	283 → 319	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	323 → 359	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	366 → 403	Low-density lipoprotein receptor domain class A	Repeat
  PF13927	Ig_3	405 → 483		Domain
  PF00052	Laminin_B	595 → 729	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	764 → 811	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	814 → 869	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	867 → 921	Laminin EGF domain	Domain
  PF00052	Laminin_B	990 → 1124	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	1116 → 1156	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1159 → 1206	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1209 → 1264	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1275 → 1322	Laminin EGF domain	Domain
  PF00052	Laminin_B	1396 → 1528	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	1523 → 1556	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1563 → 1610	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1613 → 1668	Laminin EGF domain	Domain
  PF13927	Ig_3	1676 → 1750		Domain
  PF13927	Ig_3	1769 → 1844		Domain
  PF07679	I-set	1866 → 1950	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1956 → 2042	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	2050 → 2121		Domain
  PF13927	Ig_3	2153 → 2221		Domain
  PF13927	Ig_3	2245 → 2315		Domain
  PF13927	Ig_3	2342 → 2410		Domain
  PF07679	I-set	2437 → 2520	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	2535 → 2604		Domain
  PF13927	Ig_3	2629 → 2700		Domain
  PF13927	Ig_3	2728 → 2796		Domain
  PF07679	I-set	2827 → 2910	Immunoglobulin I-set domain	Domain
  PF13895	Ig_2	2926 → 3009	Immunoglobulin domain	Domain
  PF13927	Ig_3	3021 → 3095		Domain
  PF13927	Ig_3	3111 → 3189		Domain
  PF07679	I-set	3212 → 3295	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3299 → 3382	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3400 → 3483	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3489 → 3572	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3576 → 3658	Immunoglobulin I-set domain	Domain
  PF00054	Laminin_G_1	3692 → 3831	Laminin G domain	Domain
  PF00008	EGF	3848 → 3879	EGF-like domain	Domain
  PF00054	Laminin_G_1	3957 → 4088	Laminin G domain	Domain
  PF00008	EGF	4108 → 4139	EGF-like domain	Domain
  PF02210	Laminin_G_2	4234 → 4364	Laminin G domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in cerebrospinal fluid, fibroblasts and urine (at protein level). {ECO:0000269|PubMed:25326458, ECO:0000269|PubMed:36213313}.
• Sequence:

  MGWRAAGALLLALLLHGRLLAVTHGLRAYDGLSLPEDIETVTASQMRWTHSYLSDDEDML
  ADSISGDDLGSGDLGSGDFQMVYFRALVNFTRSIEYSPQLEDAGSREFREVSEAVVDTLE
  SEYLKIPGDQVVSVVFIKELDGWVFVELDVGSEGNADGAQIQEMLLRVISSGSVASYVTS
  PQGFQFRRLGTVPQFPRACTEAEFACHSYNECVALEYRCDRRPDCRDMSDELNCEEPVLG
  ISPTFSLLVETTSLPPRPETTIMRQPPVTHAPQPLLPGSVRPLPCGPQEAACRNGHCIPR
  DYLCDGQEDCEDGSDELDCGPPPPCEPNEFPCGNGHCALKLWRCDGDFDCEDRTDEANCP
  TKRPEEVCGPTQFRCVSTNMCIPASFHCDEESDCPDRSDEFGCMPPQVVTPPRESIQASR
  GQTVTFTCVAIGVPTPIINWRLNWGHIPSHPRVTVTSEGGRGTLIIRDVKESDQGAYTCE
  AMNARGMVFGIPDGVLELVPQRGPCPDGHFYLEHSAACLPCFCFGITSVCQSTRRFRDQI
  RLRFDQPDDFKGVNVTMPAQPGTPPLSSTQLQIDPSLHEFQLVDLSRRFLVHDSFWALPE
  QFLGNKVDSYGGSLRYNVRYELARGMLEPVQRPDVVLMGAGYRLLSRGHTPTQPGALNQR
  QVQFSEEHWVHESGRPVQRAELLQVLQSLEAVLIQTVYNTKMASVGLSDIAMDTTVTHAT
  SHGRAHSVEECRCPIGYSGLSCESCDAHFTRVPGGPYLGTCSGCNCNGHASSCDPVYGHC
  LNCQHNTEGPQCNKCKAGFFGDAMKATATSCRPCPCPYIDASRRFSDTCFLDTDGQATCD
  ACAPGYTGRRCESCAPGYEGNPIQPGGKCRPVNQEIVRCDERGSMGTSGEACRCKNNVVG
  RLCNECADGSFHLSTRNPDGCLKCFCMGVSRHCTSSSWSRAQLHGASEEPGHFSLTNAAS
  THTTNEGIFSPTPGELGFSSFHRLLSGPYFWSLPSRFLGDKVTSYGGELRFTVTQRSQPG
  STPLHGQPLVVLQGNNIILEHHVAQEPSPGQPSTFIVPFREQAWQRPDGQPATREHLLMA
  LAGIDTLLIRASYAQQPAESRVSGISMDVAVPEETGQDPALEVEQCSCPPGYRGPSCQDC
  DTGYTRTPSGLYLGTCERCSCHGHSEACEPETGACQGCQHHTEGPRCEQCQPGYYGDAQR
  GTPQDCQLCPCYGDPAAGQAAHTCFLDTDGHPTCDACSPGHSGRHCERCAPGYYGNPSQG
  QPCQRDSQVPGPIGCNCDPQGSVSSQCDAAGQCQCKAQVEGLTCSHCRPHHFHLSASNPD
  GCLPCFCMGITQQCASSAYTRHLISTHFAPGDFQGFALVNPQRNSRLTGEFTVEPVPEGA
  QLSFGNFAQLGHESFYWQLPETYQGDKVAAYGGKLRYTLSYTAGPQGSPLSDPDVQITGN
  NIMLVASQPALQGPERRSYEIMFREEFWRRPDGQPATREHLLMALADLDELLIRATFSSV
  PLAASISAVSLEVAQPGPSNRPRALEVEECRCPPGYIGLSCQDCAPGYTRTGSGLYLGHC
  ELCECNGHSDLCHPETGACSQCQHNAAGEFCELCAPGYYGDATAGTPEDCQPCACPLTNP
  ENMFSRTCESLGAGGYRCTACEPGYTGQYCEQCGPGYVGNPSVQGGQCLPETNQAPLVVE
  VHPARSIVPQGGSHSLRCQVSGSPPHYFYWSREDGRPVPSGTQQRHQGSELHFPSVQPSD
  AGVYICTCRNLHQSNTSRAELLVTEAPSKPITVTVEEQRSQSVRPGADVTFICTAKSKSP
  AYTLVWTRLHNGKLPTRAMDFNGILTIRNVQLSDAGTYVCTGSNMFAMDQGTATLHVQAS
  GTLSAPVVSIHPPQLTVQPGQLAEFRCSATGSPTPTLEWTGGPGGQLPAKAQIHGGILRL
  PAVEPTDQAQYLCRAHSSAGQQVARAVLHVHGGGGPRVQVSPERTQVHAGRTVRLYCRAA
  GVPSATITWRKEGGSLPPQARSERTDIATLLIPAITTADAGFYLCVATSPAGTAQARIQV
  VVLSASDASPPPVKIESSSPSVTEGQTLDLNCVVAGSAHAQVTWYRRGGSLPPHTQVHGS
  RLRLPQVSPADSGEYVCRVENGSGPKEASITVSVLHGTHSGPSYTPVPGSTRPIRIEPSS
  SHVAEGQTLDLNCVVPGQAHAQVTWHKRGGSLPARHQTHGSLLRLHQVTPADSGEYVCHV
  VGTSGPLEASVLVTIEASVIPGPIPPVRIESSSSTVAEGQTLDLSCVVAGQAHAQVTWYK
  RGGSLPARHQVRGSRLYIFQASPADAGQYVCRASNGMEASITVTVTGTQGANLAYPAGST
  QPIRIEPSSSQVAEGQTLDLNCVVPGQSHAQVTWHKRGGSLPVRHQTHGSLLRLYQASPA
  DSGEYVCRVLGSSVPLEASVLVTIEPAGSVPALGVTPTVRIESSSSQVAEGQTLDLNCLV
  AGQAHAQVTWHKRGGSLPARHQVHGSRLRLLQVTPADSGEYVCRVVGSSGTQEASVLVTI
  QQRLSGSHSQGVAYPVRIESSSASLANGHTLDLNCLVASQAPHTITWYKRGGSLPSRHQI
  VGSRLRIPQVTPADSGEYVCHVSNGAGSRETSLIVTIQGSGSSHVPSVSPPIRIESSSPT
  VVEGQTLDLNCVVARQPQAIITWYKRGGSLPSRHQTHGSHLRLHQMSVADSGEYVCRANN
  NIDALEASIVISVSPSAGSPSAPGSSMPIRIESSSSHVAEGETLDLNCVVPGQAHAQVTW
  HKRGGSLPSHHQTRGSRLRLHHVSPADSGEYVCRVMGSSGPLEASVLVTIEASGSSAVHV
  PAPGGAPPIRIEPSSSRVAEGQTLDLKCVVPGQAHAQVTWHKRGGNLPARHQVHGPLLRL
  NQVSPADSGEYSCQVTGSSGTLEASVLVTIEPSSPGPIPAPGLAQPIYIEASSSHVTEGQ
  TLDLNCVVPGQAHAQVTWYKRGGSLPARHQTHGSQLRLHLVSPADSGEYVCRAASGPGPE
  QEASFTVTVPPSEGSSYRLRSPVISIDPPSSTVQQGQDASFKCLIHDGAAPISLEWKTRN
  QELEDNVHISPNGSIITIVGTRPSNHGTYRCVASNAYGVAQSVVNLSVHGPPTVSVLPEG
  PVWVKVGKAVTLECVSAGEPRSSARWTRISSTPAKLEQRTYGLMDSHAVLQISSAKPSDA
  GTYVCLAQNALGTAQKQVEVIVDTGAMAPGAPQVQAEEAELTVEAGHTATLRCSATGSPA
  PTIHWSKLRSPLPWQHRLEGDTLIIPRVAQQDSGQYICNATSPAGHAEATIILHVESPPY
  ATTVPEHASVQAGETVQLQCLAHGTPPLTFQWSRVGSSLPGRATARNELLHFERAAPEDS
  GRYRCRVTNKVGSAEAFAQLLVQGPPGSLPATSIPAGSTPTVQVTPQLETKSIGASVEFH
  CAVPSDRGTQLRWFKEGGQLPPGHSVQDGVLRIQNLDQSCQGTYICQAHGPWGKAQASAQ
  LVIQALPSVLINIRTSVQTVVVGHAVEFECLALGDPKPQVTWSKVGGHLRPGIVQSGGVV
  RIAHVELADAGQYRCTATNAAGTTQSHVLLLVQALPQISMPQEVRVPAGSAAVFPCIASG
  YPTPDISWSKLDGSLPPDSRLENNMLMLPSVRPQDAGTYVCTATNRQGKVKAFAHLQVPE
  RVVPYFTQTPYSFLPLPTIKDAYRKFEIKITFRPDSADGMLLYNGQKRVPGSPTNLANRQ
  PDFISFGLVGGRPEFRFDAGSGMATIRHPTPLALGHFHTVTLLRSLTQGSLIVGDLAPVN
  GTSQGKFQGLDLNEELYLGGYPDYGAIPKAGLSSGFIGCVRELRIQGEEIVFHDLNLTAH
  GISHCPTCRDRPCQNGGQCHDSESSSYVCVCPAGFTGSRCEHSQALHCHPEACGPDATCV
  NRPDGRGYTCRCHLGRSGLRCEEGVTVTTPSLSGAGSYLALPALTNTHHELRLDVEFKPL
  APDGVLLFSGGKSGPVEDFVSLAMVGGHLEFRYELGSGLAVLRSAEPLALGRWHRVSAER
  LNKDGSLRVNGGRPVLRSSPGKSQGLNLHTLLYLGGVEPSVPLSPATNMSAHFRGCVGEV
  SVNGKRLDLTYSFLGSQGIGQCYDSSPCERQPCQHGATCMPAGEYEFQCLCRDGFKGDLC
  EHEENPCQLREPCLHGGTCQGTRCLCLPGFSGPRCQQGSGHGIAESDWHLEGSGGNDAPG
  QYGAYFHDDGFLAFPGHVFSRSLPEVPETIELEVRTSTASGLLLWQGVEVGEAGQGKDFI
  SLGLQDGHLVFRYQLGSGEARLVSEDPINDGEWHRVTALREGRRGSIQVDGEELVSGRSP
  GPNVAVNAKGSVYIGGAPDVATLTGGRFSSGITGCVKNLVLHSARPGAPPPQPLDLQHRA
  QAGANTRPCPS

• Sequence length: 4391

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
Abnormal facial shape	Likely pathogenic; Pathogenic	rs898553156	RCV002226931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HSPG2-related disorder	Pathogenic; Likely pathogenic	rs747493127, rs1318029350	RCV004734269 RCV004734270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal Kniest-like syndrome	Pathogenic; Likely pathogenic	rs111306515, rs769130391, rs2152747090, rs1318029350, rs2152704005, rs1196835948, rs778653296, rs762281715, rs2152721133, rs2550621846, rs1373848573, rs1419062047, rs1294413650	RCV001336825 RCV001726530 RCV001533174 RCV005006043 RCV002249077 RCV003140611 RCV002487170 RCV002283473 RCV000016055 RCV004555793 RCV000985119 RCV001196830 RCV001824170	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs778653296	RCV005895449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwartz-Jampel syndrome	Likely pathogenic; Pathogenic	rs2098038156, rs769130391, rs1215934207, rs886039909, rs927473035, rs1572304438, rs1572356343, rs543805444, rs1294413650	RCV001331411 RCV001726530 RCV001420359 RCV000256461 RCV000984521 RCV000986274 RCV000986276 RCV001248829 RCV001261556	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schwartz-Jampel syndrome type 1	Likely pathogenic; Pathogenic	rs2098038156, rs1318029350, rs139944523, rs763945561, rs778653296, rs2550581823, rs1239294172, rs111306515, rs2550800597, rs1572204991, rs137853248, rs1572220282, rs748523693, rs2550665451, rs1294413650	RCV005860218 RCV005006043 RCV002238697 RCV003152919 RCV002487170 RCV003234961 RCV003234962 RCV003388347 RCV003444078 RCV001800293 RCV001800294 RCV001800295 RCV001800297 RCV001800298 RCV006264004 RCV003989665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
1P36 DELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood-onset schizophrenia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 1p36 deletion syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSSEGMENTAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HSPG2-realted disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease caused by qualitative or quantitative defects of perlecan	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reduced muscle fiber perlecan	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHWARTZ-JAMPEL SYNDROME, TYPE 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stuve-Wiedemann syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	7544867		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12050180		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	10993271		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30426534		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	30402850		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28159936		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36928034	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	12189507, 14720194, 21255062, 29921372		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	17356275		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30646882		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18493969		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18493969		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	20053631		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16620836, 18596265, 20139365, 23137827, 29317346		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	28539443		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	30402850	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16620836, 18596265, 20139365, 23137827, 29317346		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16620836		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	23049933	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31029511		★☆☆☆☆ Found in Text Mining only
Balkan Nephropathy	Balkan Nephropathy	BEFREE	24949484		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	18378883		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11353454		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33210551	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26277786	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12702564, 30278461		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23436656, 30278461, 33210551	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	1997102		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	7633416		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25184692	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20179205, 28903399		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36056063	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	24454898	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	16026543, 17226760, 18216313		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	40165272	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	7793988		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	7637318		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	21919908, 26661237		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	30402850		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23480752	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	19179614		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31619617		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30700840		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12671891		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19466596, 25715761, 9376258		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	25715761		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21360263		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35751785, 37241967	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	27919819		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	24735539		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	28327142		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15998433, 30575044		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10580178		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10580178		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10580178		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	25804706		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30390010		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	36928034	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	28327142, 34174923, 36123715	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32111749, 40298873	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27545212		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10586428	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10586428, 29415062		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10586428, 12708751, 14674716, 27545212, 30347105		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10586428, 12708751, 14674716		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	10545953, 11279527		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	27545212		★☆☆☆☆ Found in Text Mining only
Dyssegmental dysplasia	Dyssegmental Dysplasia	BEFREE	11279527, 11941538, 29526034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssegmental dysplasia	Dyssegmental Dysplasia	ORPHANET_DG	11279527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssegmental dysplasia	Dyssegmental Dysplasia	GENOMICS_ENGLAND_DG	11279527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssegmental dysplasia	Dyssegmental Dysplasia	CTD_human_DG	11279527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssegmental dysplasia	Dyssegmental dysplasia	Pubtator	29526034	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssegmental dysplasia, Silverman-Handmaker type	Dyssegmental Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1	Ehlers-Danlos Syndrome	BEFREE	28019669		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	29621420		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	2522973		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28552676		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20179205, 28903399		★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	BEFREE	28940568, 29387340		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23390063		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23390063		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	10545953		★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	7637318		★☆☆☆☆ Found in Text Mining only
Familial HDL deficiency	Glucocorticoid Deficiency	BEFREE	11181755		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	32159364	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10749582, 12702564, 9187109		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15998433		★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture-shoulder	Shoulder flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	14676122		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29114039, 29375303		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	27502167		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28212550		★☆☆☆☆ Found in Text Mining only
gaze palsy familial horizontal with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis	Pubtator	25504735	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29322326		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33694259	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29322326		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29322326, 29726297		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24454898	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30575044		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	31259093		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	15633220, 1715897, 30233715		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35893033	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	10934647, 22253766		★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	19839757		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	BEFREE	28539443		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	25568062		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10586428, 16226129		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	24278138		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	25568062		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36810972	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21494642		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	17038484, 19506372, 20053631		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	14720194		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	11350606		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31541017		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	33729517	Associate	★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	18205742		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10586428, 12708751, 28992095		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	12708751		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	26277839, 29042286, 29574692, 9746585		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	32606327	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32606327	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	22328940	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25506919		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10402064, 10733544, 11350606, 12671891, 12949053, 15453640, 15754328, 15780062, 16010434, 16762624, 1694812, 1715897, 1717713, 17566587, 18641988, 19190340, 20186755, 20404016, 20978511, 21394108, 21584833, 2164731, 2170518, 21996735, 23023935, 23659451, 24008375, 24204846, 2464737, 25070628, 25999065, 28109948, 28168749, 28284560, 28338292, 28342979, 28677271, 29421242, 29481815, 29669302, 29733511, 2992761, 2992762, 3006059, 30600408, 30774272, 3669152, 6088800, 6288577, 6331347, 6889516, 8249446, 8703909, 9376258, 9562372		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12671891		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	30600408		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12671891, 15754328, 16762624, 20186755, 2164731, 2170518, 2464737, 28155331, 29421242, 2992761, 2992762, 6331347, 8249446, 8703909, 9376258		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	31436331		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28420046		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28420046		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28420046		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28420046		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28420046		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12702564, 30278461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23555315		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23390063		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27895416, 6889516		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	25506919		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16215274, 31406163		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16283481, 16507112, 24700612, 24833109		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11230749, 18300285, 20840587, 23644655, 24591640, 24700612, 25715761, 27819680, 29421242, 30700840, 31567395, 7747250, 9187109		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25715761		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	31355297		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25691007, 29421242, 29462330, 7591461		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26277786	Associate	★☆☆☆☆ Found in Text Mining only
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	10545953, 11279527		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	28420046		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20937555, 27810425		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29773865		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	16283481, 16507112, 29740048		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	BEFREE	10545953		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	31259093		★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	30402850		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	10545953, 11279527		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	LHGDN	11968010		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	10716758		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	7544867		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Disorders	Myotonic Disorders	LHGDN	11941538		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10588824, 10749582, 10934647, 11872644, 12189507, 12727115, 1335479, 16283481, 16507112, 18205742, 18234958, 21067180, 23327652, 24591640, 24700612, 24833109, 27225448, 27502167, 27623941, 27895416, 28215163, 29188798, 29322326, 29502190, 29566097, 29733511, 29921372, 30055129, 30717766, 31200238, 31431619, 6889516, 9187109, 9468523, 9788974		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	11380810		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	11380810		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	1536728		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28677271		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11461706, 29773865		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	18205742, 29921372		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	30402850		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	30402850	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	27238423		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	10545953, 11279527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	LHGDN	11941538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	32134596	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	31715337		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16215274, 31406163		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29193789		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25393639	Associate	★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	28030367, 30302745		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30390010		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16283481, 16507112, 24700612, 24833109		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16283481		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16507112, 24700612		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24833109, 29740048, 32413029	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	12708751		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18493969, 30283332		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	10545953, 11279527		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	11101850, 11930277, 11941538, 16927315, 17213231, 26031903, 30203597, 31715337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	ORPHANET_DG	19367640		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schwartz-Jampel syndrome	Schwartz-Jampel Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	10545953, 11279527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	BEFREE	11101850, 27521129, 29901129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	UNIPROT_DG	11101850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	GENOMICS_ENGLAND_DG	11101850, 11279527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	30327649	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	25504735	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	24591640		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	16564219		★☆☆☆☆ Found in Text Mining only
Spermatic Cord Torsion	Spermatic Cord Torsion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	19839757		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	10545953, 11279527		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	10545953, 11279527		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11148217, 14720194, 20510673, 20621058, 21198869, 22575259, 25506919		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18594017	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	20621058		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	17620823, 20833111, 21216202, 21428769, 21912425, 22348435, 22500513, 27003892, 27060780, 28205426, 28412864, 28552676, 29607330		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	BEFREE	20880148, 21071176, 21562486, 23224615, 23600531, 24429903, 24597466, 24901010, 26488421, 26490229, 27913699, 29076187, 29105735, 29546073, 29569740, 30015149, 31000507, 31378082		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36484990	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	BEFREE	24735539		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30327649		★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	11181755		★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric Dysplasia	BEFREE	10545953		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	10545953		★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	14676122, 29897006		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	21216202, 22348435, 23224615, 26490229, 28412864, 28547534, 30840032, 31000507		★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	30175438		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24330829	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31462656		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37391754	Stimulate	★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	36768853	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	27166257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	34905385	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Buchem disease	Van Buchem Disease	CTD_human_DG	10545953, 11279527		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	30402850		★☆☆☆☆ Found in Text Mining only