COL18A1 (collagen type XVIII alpha 1 chain)

Gene

• Entrez ID: 80781
• Gene name: Collagen type XVIII alpha 1 chain
• Gene symbol: COL18A1
• Synonyms (NCBI Gene): GLCC, KNO, KNO1, KS
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749009747	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs775168204	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs778612831	A>G	Likely-pathogenic	Splice acceptor variant
rs778909108	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205554	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs886043809	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167359	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555870809	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1602456821	->T	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049203	hsa-miR-92a-3p	CLASH	23622248
MIRT037044	hsa-miR-877-3p	CLASH	23622248
MIRT527343	hsa-miR-4453	PAR-CLIP	22012620
MIRT527342	hsa-miR-4538	PAR-CLIP	22012620
MIRT527341	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT527340	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT527339	hsa-miR-27b-5p	PAR-CLIP	22012620
MIRT527338	hsa-miR-661	PAR-CLIP	22012620
MIRT527337	hsa-miR-1292-5p	PAR-CLIP	22012620
MIRT527336	hsa-miR-4471	PAR-CLIP	22012620
MIRT527335	hsa-miR-8059	PAR-CLIP	22012620
MIRT527334	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT527333	hsa-miR-3977	PAR-CLIP	22012620
MIRT527332	hsa-miR-450a-1-3p	PAR-CLIP	22012620
MIRT527331	hsa-miR-6749-5p	PAR-CLIP	22012620
MIRT527343	hsa-miR-4453	PAR-CLIP	22012620
MIRT527342	hsa-miR-4538	PAR-CLIP	22012620
MIRT527341	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT527340	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT527339	hsa-miR-27b-5p	PAR-CLIP	22012620
MIRT527338	hsa-miR-661	PAR-CLIP	22012620
MIRT527337	hsa-miR-1292-5p	PAR-CLIP	22012620
MIRT527336	hsa-miR-4471	PAR-CLIP	22012620
MIRT527335	hsa-miR-8059	PAR-CLIP	22012620
MIRT527334	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT527333	hsa-miR-3977	PAR-CLIP	22012620
MIRT527332	hsa-miR-450a-1-3p	PAR-CLIP	22012620
MIRT527331	hsa-miR-6749-5p	PAR-CLIP	22012620
MIRT902534	hsa-miR-1181	CLIP-seq
MIRT902535	hsa-miR-1200	CLIP-seq
MIRT902536	hsa-miR-1204	CLIP-seq
MIRT902537	hsa-miR-1234	CLIP-seq
MIRT902538	hsa-miR-1280	CLIP-seq
MIRT902539	hsa-miR-134	CLIP-seq
MIRT902540	hsa-miR-1827	CLIP-seq
MIRT902541	hsa-miR-1910	CLIP-seq
MIRT902542	hsa-miR-219-2-3p	CLIP-seq
MIRT902543	hsa-miR-23a	CLIP-seq
MIRT902544	hsa-miR-23b	CLIP-seq
MIRT902545	hsa-miR-23c	CLIP-seq
MIRT902546	hsa-miR-2861	CLIP-seq
MIRT902547	hsa-miR-2964a-3p	CLIP-seq
MIRT902548	hsa-miR-302a	CLIP-seq
MIRT902549	hsa-miR-302b	CLIP-seq
MIRT902550	hsa-miR-302c	CLIP-seq
MIRT902551	hsa-miR-302d	CLIP-seq
MIRT902552	hsa-miR-302e	CLIP-seq
MIRT902553	hsa-miR-3064-5p	CLIP-seq
MIRT902554	hsa-miR-3118	CLIP-seq
MIRT902555	hsa-miR-3120-5p	CLIP-seq
MIRT902556	hsa-miR-3136-5p	CLIP-seq
MIRT902557	hsa-miR-3141	CLIP-seq
MIRT902558	hsa-miR-3152-5p	CLIP-seq
MIRT902559	hsa-miR-3164	CLIP-seq
MIRT902560	hsa-miR-346	CLIP-seq
MIRT902561	hsa-miR-3660	CLIP-seq
MIRT902562	hsa-miR-372	CLIP-seq
MIRT902563	hsa-miR-373	CLIP-seq
MIRT902564	hsa-miR-375	CLIP-seq
MIRT902565	hsa-miR-377	CLIP-seq
MIRT902566	hsa-miR-378g	CLIP-seq
MIRT902567	hsa-miR-4265	CLIP-seq
MIRT902568	hsa-miR-4275	CLIP-seq
MIRT902569	hsa-miR-4288	CLIP-seq
MIRT902570	hsa-miR-4296	CLIP-seq
MIRT902571	hsa-miR-4317	CLIP-seq
MIRT902572	hsa-miR-4322	CLIP-seq
MIRT902573	hsa-miR-4323	CLIP-seq
MIRT902574	hsa-miR-4324	CLIP-seq
MIRT902575	hsa-miR-4417	CLIP-seq
MIRT902576	hsa-miR-4421	CLIP-seq
MIRT902577	hsa-miR-4427	CLIP-seq
MIRT902578	hsa-miR-4437	CLIP-seq
MIRT902579	hsa-miR-4439	CLIP-seq
MIRT902580	hsa-miR-4447	CLIP-seq
MIRT902581	hsa-miR-4472	CLIP-seq
MIRT902582	hsa-miR-4488	CLIP-seq
MIRT902583	hsa-miR-4513	CLIP-seq
MIRT902584	hsa-miR-4526	CLIP-seq
MIRT902585	hsa-miR-4649-3p	CLIP-seq
MIRT902586	hsa-miR-4651	CLIP-seq
MIRT902587	hsa-miR-4663	CLIP-seq
MIRT902588	hsa-miR-4674	CLIP-seq
MIRT902589	hsa-miR-4680-3p	CLIP-seq
MIRT902590	hsa-miR-4684-3p	CLIP-seq
MIRT902591	hsa-miR-4687-3p	CLIP-seq
MIRT902592	hsa-miR-4697-5p	CLIP-seq
MIRT902593	hsa-miR-4751	CLIP-seq
MIRT902594	hsa-miR-4758-3p	CLIP-seq
MIRT902595	hsa-miR-4774-3p	CLIP-seq
MIRT902596	hsa-miR-499-3p	CLIP-seq
MIRT902597	hsa-miR-499a-3p	CLIP-seq
MIRT902598	hsa-miR-512-3p	CLIP-seq
MIRT902599	hsa-miR-516a-3p	CLIP-seq
MIRT902600	hsa-miR-520a-3p	CLIP-seq
MIRT902601	hsa-miR-520b	CLIP-seq
MIRT902602	hsa-miR-520c-3p	CLIP-seq
MIRT902603	hsa-miR-520d-3p	CLIP-seq
MIRT902604	hsa-miR-520e	CLIP-seq
MIRT902605	hsa-miR-544b	CLIP-seq
MIRT902606	hsa-miR-604	CLIP-seq
MIRT902607	hsa-miR-608	CLIP-seq
MIRT902608	hsa-miR-632	CLIP-seq
MIRT902609	hsa-miR-647	CLIP-seq
MIRT902610	hsa-miR-764	CLIP-seq
MIRT902611	hsa-miR-940	CLIP-seq
MIRT902535	hsa-miR-1200	CLIP-seq
MIRT902539	hsa-miR-134	CLIP-seq
MIRT902540	hsa-miR-1827	CLIP-seq
MIRT902548	hsa-miR-302a	CLIP-seq
MIRT902549	hsa-miR-302b	CLIP-seq
MIRT902550	hsa-miR-302c	CLIP-seq
MIRT902551	hsa-miR-302d	CLIP-seq
MIRT902552	hsa-miR-302e	CLIP-seq
MIRT902553	hsa-miR-3064-5p	CLIP-seq
MIRT902554	hsa-miR-3118	CLIP-seq
MIRT902556	hsa-miR-3136-5p	CLIP-seq
MIRT902559	hsa-miR-3164	CLIP-seq
MIRT902561	hsa-miR-3660	CLIP-seq
MIRT902562	hsa-miR-372	CLIP-seq
MIRT902563	hsa-miR-373	CLIP-seq
MIRT902574	hsa-miR-4324	CLIP-seq
MIRT902579	hsa-miR-4439	CLIP-seq
MIRT902583	hsa-miR-4513	CLIP-seq
MIRT902584	hsa-miR-4526	CLIP-seq
MIRT902585	hsa-miR-4649-3p	CLIP-seq
MIRT902586	hsa-miR-4651	CLIP-seq
MIRT902587	hsa-miR-4663	CLIP-seq
MIRT902591	hsa-miR-4687-3p	CLIP-seq
MIRT902598	hsa-miR-512-3p	CLIP-seq
MIRT902600	hsa-miR-520a-3p	CLIP-seq
MIRT902601	hsa-miR-520b	CLIP-seq
MIRT902602	hsa-miR-520c-3p	CLIP-seq
MIRT902603	hsa-miR-520d-3p	CLIP-seq
MIRT902604	hsa-miR-520e	CLIP-seq
MIRT902605	hsa-miR-544b	CLIP-seq
MIRT902607	hsa-miR-608	CLIP-seq
MIRT902609	hsa-miR-647	CLIP-seq
MIRT902610	hsa-miR-764	CLIP-seq
MIRT902611	hsa-miR-940	CLIP-seq
MIRT902539	hsa-miR-134	CLIP-seq
MIRT902554	hsa-miR-3118	CLIP-seq
MIRT902556	hsa-miR-3136-5p	CLIP-seq
MIRT902559	hsa-miR-3164	CLIP-seq
MIRT902561	hsa-miR-3660	CLIP-seq
MIRT902579	hsa-miR-4439	CLIP-seq
MIRT902583	hsa-miR-4513	CLIP-seq
MIRT902584	hsa-miR-4526	CLIP-seq
MIRT902586	hsa-miR-4651	CLIP-seq
MIRT902591	hsa-miR-4687-3p	CLIP-seq
MIRT902607	hsa-miR-608	CLIP-seq
MIRT1967702	hsa-miR-3127-3p	CLIP-seq
MIRT902558	hsa-miR-3152-5p	CLIP-seq
MIRT1967703	hsa-miR-3194-5p	CLIP-seq
MIRT902567	hsa-miR-4265	CLIP-seq
MIRT1967704	hsa-miR-4283	CLIP-seq
MIRT902570	hsa-miR-4296	CLIP-seq
MIRT902572	hsa-miR-4322	CLIP-seq
MIRT902573	hsa-miR-4323	CLIP-seq
MIRT902575	hsa-miR-4417	CLIP-seq
MIRT902580	hsa-miR-4447	CLIP-seq
MIRT902581	hsa-miR-4472	CLIP-seq
MIRT902582	hsa-miR-4488	CLIP-seq
MIRT1967705	hsa-miR-4532	CLIP-seq
MIRT902587	hsa-miR-4663	CLIP-seq
MIRT1967706	hsa-miR-4691-5p	CLIP-seq
MIRT902592	hsa-miR-4697-5p	CLIP-seq
MIRT902599	hsa-miR-516a-3p	CLIP-seq
MIRT1967707	hsa-miR-615-3p	CLIP-seq
MIRT902577	hsa-miR-4427	CLIP-seq
MIRT2203525	hsa-miR-4436b-5p	CLIP-seq
MIRT902589	hsa-miR-4680-3p	CLIP-seq
MIRT902542	hsa-miR-219-2-3p	CLIP-seq
MIRT902543	hsa-miR-23a	CLIP-seq
MIRT902544	hsa-miR-23b	CLIP-seq
MIRT902545	hsa-miR-23c	CLIP-seq
MIRT902547	hsa-miR-2964a-3p	CLIP-seq
MIRT2386332	hsa-miR-3155	CLIP-seq
MIRT2386333	hsa-miR-3182	CLIP-seq
MIRT902565	hsa-miR-377	CLIP-seq
MIRT902577	hsa-miR-4427	CLIP-seq
MIRT2386334	hsa-miR-4652-3p	CLIP-seq
MIRT902589	hsa-miR-4680-3p	CLIP-seq
MIRT902596	hsa-miR-499-3p	CLIP-seq
MIRT902597	hsa-miR-499a-3p	CLIP-seq
MIRT2447433	hsa-miR-3170	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXA2	Unknown	11093745
NFIC	Unknown	11093745
SP1	Unknown	11093745

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0001525	Process	Angiogenesis	IBA
GO:0001886	Process	Endothelial cell morphogenesis	IBA
GO:0005515	Function	Protein binding	IPI	17615292, 19542224, 19877579, 24117177
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005581	Component	Collagen trimer	TAS	10942434
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	TAS	10942434
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9008168
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10942434
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 23979707, 25037231, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042802	Function	Identical protein binding	IPI	16269408
GO:0046872	Function	Metal ion binding	IEA
GO:0051599	Process	Response to hydrostatic pressure	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145

Other IDs

• MIM: 120328
• HGNC: 2195
• e!Ensembl: ENSG00000182871

Protein

• UniProt ID: P39060
• Protein name: Collagen alpha-1(XVIII) chain [Cleaved into: Endostatin; Non-collagenous domain 1 (NC1)]
• Protein function: Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. ; [Non-collagenous domain 1]: May regulate extracellular matrix-dependent motility and morphog
• PDB: 1BNL, 3HON, 3HSH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06121	DUF959	13 → 194	Domain of Unknown Function (DUF959)	Domain
  PF01392	Fz	334 → 440	Fz domain	Domain
  PF01391	Collagen	791 → 857	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	927 → 990	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1038 → 1096	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1070 → 1128	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1186 → 1246	Collagen triple helix repeat (20 copies)	Repeat
  PF06482	Endostatin	1443 → 1750	Collagenase NC10 and Endostatin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Present in multiple organs with highest levels in liver, lung and kidney. {ECO:0000269|PubMed:32337544}.
• Sequence:

  MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADT
  TTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKG
  IRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
  HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQG
  LSPAAAAPSQQLQRPDVRLRTPLLHPLVMGSLGKHAAPSAFSSGLPGALSQVAVTTLTRD
  SGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHH
  ESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACW
  SRLGGGRLPVACASLPTQEDGYCVLIGPAAERISEEVGLLQLLGDPPPQQVTQTDDPDVG
  LAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKL
  SGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQR
  MPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEEGDDSD
  GASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTV
  ASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGP
  PGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFP
  GTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRG
  PRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGR
  EGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGP
  GLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFP
  GLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDGSVLSV
  PGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKG
  EPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPP
  GPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLE
  AEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPPGPRGYPGIPGPKGESIRG
  QPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMG
  ASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDN
  EVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVH
  LRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAF
  LSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVL
  RHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAY
  IVLCIENSFMTASK

• Sequence length: 1754

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen degradation
Activation of Matrix Metalloproteinases
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Laminin interactions
Collagen chain trimerization

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
Cataract	Pathogenic	rs765919785, rs1057518802	RCV000414765 RCV000415261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs776147216	RCV005927020	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL18A1-related disorder	Pathogenic	rs749541171, rs775168204	RCV004548977 RCV003335083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cowden syndrome 1	Pathogenic	rs2037488871	RCV005861222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
early onset and severe retinal dystrophy	Pathogenic	rs2036430129, rs2035308819, rs2035717418, rs2036496173, rs2037119027	RCV001270474 RCV001270476 RCV001270475 RCV001270477 RCV001270473	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary glaucoma, primary closed-angle	Likely pathogenic; Pathogenic	rs753984170, rs398122391, rs2035293928, rs2035305918, rs2035718735	RCV005392659 RCV001198207 RCV001093603 RCV001093605 RCV001198460	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High myopia	Pathogenic	rs765919785, rs1057518802	RCV000414765 RCV000415261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Knobloch syndrome	Likely pathogenic; Pathogenic	rs757523045, rs2145934671, rs768663340, rs1568930288, rs1467976097, rs769882681, rs770631950, rs749009747, rs1114167359, rs1555870809, rs1555860555, rs1555877107, rs113847452, rs756797124, rs771752014, rs398122391, rs775168204, rs1602667345, rs1602456821, rs2035293928, rs2035305918, rs1438060081, rs753935209, rs2037488871	RCV001420592 RCV001449800 RCV002246563 RCV002249373 RCV000018652 RCV000018654 RCV000018656 RCV000476263 RCV000490890 RCV001805122 RCV000662296 RCV000662297 RCV000761287 RCV000761494 RCV000825517 RCV000055632 RCV000055633 RCV000985046 RCV001002984 RCV001093602 RCV001093604 RCV001170052 RCV001170051 RCV001253603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Knobloch syndrome 1	Pathogenic; Likely pathogenic	rs1365450066, rs768663340, rs776238441, rs768055690, rs753824908, rs541908170, rs2036311953, rs886041437, rs753984170, rs2517795259, rs770631950, rs749009747, rs398122391, rs756223600	RCV004526158 RCV003136227 RCV002290819 RCV005409066 RCV004796065 RCV003403873 RCV003142507 RCV005869201 RCV005392659 RCV003883229 RCV004782018 RCV002289584 RCV003235024 RCV004789398	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic	rs151228115	RCV005925487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Pathogenic	rs398122391	RCV000504900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs894151180	RCV005931291	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs894151180	RCV005931290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Pathogenic	rs765919785, rs1057518802	RCV000414765 RCV000415261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs765919785, rs1057518802, rs778612831, rs1555870809, rs749009747, rs1555874538, rs398122391, rs756223600, rs2035758739	RCV000414765 RCV000415261 RCV000504697 RCV000504887 RCV000505075 RCV000504712 RCV001074487 RCV001074486 RCV001074848	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic	rs398122391	RCV000505165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1114167359	RCV005899745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, PRIMARY CLOSED ANGLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, PRIMARY CLOSED-ANGLE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMANGIOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KNOBLOCH SYNDROME, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular motility disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE-CLOSURE GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive neurodegenerative disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ 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
Uveal melanoma	Uncertain significance; 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	11945061, 12693719, 17011029, 9747636		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12209972		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28801183, 31807506		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	11606364		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18478248		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16912203		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	22358232	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24646176		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	17526870, 22716662, 27710144, 31731799		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	12408231, 33633844	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	38353026	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29656960	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29656960		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28428451, 31835040		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	30831282		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	11991745, 24239715		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22450926	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22772731		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28428451, 31835040		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	32178553	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15014038, 21052889, 21953122, 23765955		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15014038		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	28572048		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11135548, 11687903, 21386822		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10416583, 10758166, 10766159, 11560766, 11830503, 12080381, 12209972, 12673115, 12792778, 12839947, 15956253, 16552441, 17587451, 17705027, 23906295, 29238974		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16552441, 17587451	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19133151	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	28801183		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	21555590, 27174004, 28698285		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15605080, 33682749	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12174873		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12412173, 15605080, 22461898	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15948234	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	17695418	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15014038, 21052889, 21953122, 23765955		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15773788, 15846121, 18939902, 22431315, 24927253, 28165807, 29434884		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25092217	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30406146, 35529267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35787628	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30720196		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10786683, 11489819, 11560766, 15709207, 16618757, 19609295, 22911684, 25092217, 28528917, 29232464		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	11560766, 29050319		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29488402		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	28428451, 29398676		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract	Cataract	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract	Cataract	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	12408231	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28716979		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24646176		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30452401, 31040073	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	25093596	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29893146, 29937525, 31404120		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12857600		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24057240		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	30892485	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12869217, 14640106, 15083196, 15305421, 20373131, 21615297, 29755110		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	14640106		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11720442, 12032662, 20233520, 25013366, 29282026, 29722931		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11720442	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	25456301		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	30831282		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	20799329		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29893146, 29971007		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12386829, 15273700, 17513560, 18507514, 19244102, 20103651, 26637866		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Band-Shaped	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	14687476, 18199835, 21850166, 29533953		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30959314		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	19074676		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	19074676	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30959314		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30959314		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	32035984	Associate	★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28976780, 29893146		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19074676	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21549702	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28976780, 29893146		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18345385	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29488402, 29896154, 30591223		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31598726		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29896154		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	22358232	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11781696, 19133151, 27487163		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	19133151, 27487163, 33633844, 35361402, 38095646	Associate	★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	20799329		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17482599, 17697575		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17482599	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	12415512		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12415512	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	11489819, 15709207, 25092217, 28528917, 29232464		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	30339555		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	BEFREE	27065430		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25840998	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	16912203		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15605080, 26239504		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	12193566		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	19622587		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	31573481		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	31573481	Stimulate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30007336		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19145252, 29847670	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18474779, 19145252, 23621901		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11135549, 16150649, 18421309, 18447716, 22233416, 24755877, 28193190, 28863122, 29507055, 29948641, 31446307		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11135549, 16150649, 18421309, 18447716, 22233416, 24755877, 27897101, 28193190, 28863122, 29507055, 29948641, 31356114, 31446307		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11135549, 11559558, 21386822, 23403076, 27072237, 28863122		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12231538		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30795814	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	31404120		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33341801	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	31731799		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21361787		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24662947	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26171937	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	26771970	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29893146, 29971007		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	29893146	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	21335463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma	Hemangioma	BEFREE	11254674, 26088746		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	16861344	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	CTD_human_DG	17569031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	BEFREE	31027090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	30293229		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	12412173	Stimulate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	15857886		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25424718	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25424718, 28716979, 28976780, 29488402, 29893146		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28361263		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25489667		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	16025479		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	11945061, 12193566, 15956253		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30892485		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28093678, 31835040		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11454689		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35618095	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28857121, 30445971		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	17513560		★☆☆☆☆ Found in Text Mining only
Knobloch syndrome	Knobloch Syndrome	BEFREE	10942434, 12415512, 14695535, 15465551, 15857886, 18484314, 20799329, 25392994, 25456301, 28602933, 30007336		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Knobloch syndrome	Knobloch syndrome	Pubtator	12415512, 20799329, 25392994, 28924418, 29178892, 32178553, 34680907, 34751625, 37269665, 39457419	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Knobloch syndrome	Knobloch Syndrome	ORPHANET_DG	15714516, 21862674		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Knobloch syndrome	Knobloch Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Knobloch syndrome	Knobloch Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Knobloch syndrome	Knobloch Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Knobloch Syndrome, Type I	Knobloch syndrome	GENOMICS_ENGLAND_DG	10942434, 22399687, 28950998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Knobloch Syndrome, Type I	Knobloch syndrome	CLINVAR_DG	25456301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Knobloch Syndrome, Type I	Knobloch syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	11237675, 12693719, 20157910		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12693719	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12693719, 26125711, 33284559	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12209593		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12693719		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11925602, 12439922, 15016752, 15222025, 15259064, 15389517, 15603709, 15605080, 15740644, 15948234, 16038050, 17627616, 19069638, 20443695, 20679198, 21175812, 21216091, 22461898, 25731590, 26278330, 26416054, 27085325, 29075040, 29467868, 31235729		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15605080		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24057240		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12532444, 12731087, 15069724, 15222025, 15259064, 15605080, 16038050, 19069638, 21216091, 25731590		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	33341801	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15328173		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25359881		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	30922357		★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	20157910		★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	27710144		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31731799	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Glioma	Glioma	BEFREE	27903792		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21361787		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	11687903		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10416583, 10766159, 11560766, 11830503, 12080381, 12673115, 12792778, 12839947, 15956253, 16552441, 17587451, 17705027, 23906295, 29238974		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	22200632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30127864		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	15222025, 16038050, 19223770, 21427563		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15773788, 15846121, 18939902, 22431315, 24927253, 28165807, 29115591, 29434884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10786683, 11489819, 11560766, 11720442, 16618757, 19609295, 22911684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17606731, 18360823, 19587709, 23293110, 23890138, 26041879		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	GWASDB_DG	21849791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11606364, 15662127, 15735323, 16568082, 19301304, 19431146, 28069826, 30178447, 30685298		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24124726, 27610466, 29050319, 31749879		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15014038, 21052889, 21953122, 23765955		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10669955, 10749112, 11020798, 11720442, 11773978, 11945061, 12657135, 14996740, 15069724, 15118757, 15486558, 15603709, 15735323, 15846121, 16397252, 16793908, 18197781, 18478248, 18620094, 19069638, 19136200, 19244102, 19431146, 19921255, 20053726, 20497689, 20799329, 21701531, 22562248, 22911684, 24404126, 24927253, 26125720, 26542764, 26801817, 27746220, 28771739, 29498688, 30800594, 31429167		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12869217, 14640106, 15083196, 20373131		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12839947, 16807676, 17587451		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15956253		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24646176		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19787240, 20497689, 29755110, 31270843		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30821848		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	14514474		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12693719		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	19219619		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29199230, 29509663, 30474426		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29893146, 30474426, 30959314, 31725448		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	29893146	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	30474426	Stimulate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	21527992, 35567543	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	29781737		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	19074676	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	26275402		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	16287067, 16731762, 19459845, 22158523, 24269822, 24662947, 30510431		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24662947	Associate	★☆☆☆☆ Found in Text Mining only
Navajo neurohepatopathy	Navajo neurohepatopathy	Pubtator	22358232	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10416583, 10449407, 10626820, 10758166, 10766159, 10786683, 11020798, 11135548, 11135549, 11237675, 11310942, 11321448, 11349875, 11489819, 11498776, 11687903, 11720442, 11830503, 11911017, 12032662, 12193566, 12209972, 12429648, 12532444, 12657135, 12673115, 12792778, 12839947, 14528278, 14595383, 14640106, 14654925, 15014038, 15083196, 15222025, 15273700, 15334690, 15486558, 15603709, 15604266, 15605080, 15668143, 15709207, 15936041, 15952188, 15956253, 16038050, 16287067, 16397252, 16509155, 16546982, 16618757, 16723121, 16793908, 17417683, 17513560, 17584610, 17587451, 17606731, 17627616, 17653078, 17705027, 18097470, 18197781, 18360823, 18451168, 18478248, 18936210, 19069638, 19223770, 19265510, 19615383, 19622587, 20497689, 21163348, 21344541, 21393427, 21427563, 21953122, 22158523, 22266191, 22358232, 22911684, 23154549, 23169794, 23229955, 23714245, 23890138, 23906295, 24193868, 24404126, 24755877, 24927253, 25229620, 25788476, 25872924, 26088746, 26125720, 26416054, 26542764, 26617886, 26637866, 27160083, 27610466, 27746220, 27921229, 29282026, 29434884, 29467868, 29499713, 29755110, 29874597, 30127864, 30178447, 30293229, 30301838, 30685298, 30720196, 31074644, 31114225, 31648117		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19160445		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11349875, 11498776		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19389394, 21896639, 23154549, 23371029, 23548249, 24193868, 24374073, 26542176, 28771739, 29049797, 29575575, 29696151, 29929572, 30152052, 30352660, 30485686, 30761959, 30762300		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	18345385	Associate	★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	BEFREE	15857886, 28602933		★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	LHGDN	15296943		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	GWASCAT_DG	30787463		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15668143, 17892509, 26542764, 26617886, 30352660		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22009965, 25481287, 26542764, 26617886	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10786683, 11560766, 16618757, 19609295, 22562248, 22911684		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18006826		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11720442	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17606731, 18360823, 19587709, 23293110, 23890138, 26041879		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18360823		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	21771176		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	GWASDB_DG	22105264		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	22105264, 26347886, 31663982	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	29532123, 31663982		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28053548		★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	15465551		★☆☆☆☆ Found in Text Mining only
Phthisis bulbi	Phthisis bulbi	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	29203315		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	22431315		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	28602933		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11945061, 9747636		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	17011029		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11606364, 15662127, 15735323, 16568082, 19301304, 19431146, 28069826, 30178447, 30685298		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15662127, 19431146, 25605930	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16169279		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28069826	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25489667		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	25489667, 31922883, 33334933	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30127864		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10449407, 12386829, 15273700, 17513560, 18507514, 19244102, 20103651, 26637866		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	37269665	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinoblastoma	Retinoblastoma	BEFREE	23229955		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	12377190		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28850026		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	27888623, 29462961, 30352660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	33682749	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	29600562		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	32085768, 33334933, 36707842	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28643862, 30119079		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28857121		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	17697575		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	21527992, 29781737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30293229		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	16807676		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12429648, 15540202, 31541853		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26412785, 30850562, 31541853		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23370231, 24662947	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12820385, 21361787, 22116375		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23641912, 24124726, 27610466, 29050319, 31749879		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16998835		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19622587, 20361288, 30948703	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	30772522	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	11781661		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28602918, 29024388, 29600562		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	31573481		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18818971		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17975799		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25200065		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	30922357		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	30922357	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	30922357	Stimulate	★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	21335463		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30892485		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	21457400, 21771176		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	37932662	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28602918		★☆☆☆☆ Found in Text Mining only
Vasculitis of large artery	Vasculitis	BEFREE	31573481		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	29893146	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	20377369		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	BEFREE	20799329		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only