VCAN (versican)

Gene

• Entrez ID: 1462
• Gene name: Versican
• Gene symbol: VCAN
• Synonyms (NCBI Gene): CSPG2, ERVR, GHAP, PG-M, WGN, WGN1
• Chromosome: 5
• Chromosome location: 5q14.2-q14.3
• Summary: This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143393049	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, missense variant
rs536465380	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT651762	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT651761	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT651760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT651759	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT651758	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT097550	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT097548	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546098	hsa-miR-643	PAR-CLIP	21572407
MIRT546097	hsa-miR-3185	PAR-CLIP	21572407
MIRT314708	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT314709	hsa-miR-107	PAR-CLIP	21572407
MIRT546096	hsa-miR-578	PAR-CLIP	21572407
MIRT439309	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439309	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT651762	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT651761	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT651760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT651759	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT651758	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT097550	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT097548	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546098	hsa-miR-643	PAR-CLIP	21572407
MIRT546097	hsa-miR-3185	PAR-CLIP	21572407
MIRT314708	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT314709	hsa-miR-107	PAR-CLIP	21572407
MIRT546096	hsa-miR-578	PAR-CLIP	21572407
MIRT755457	hsa-miR-30a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37032373
MIRT1483214	hsa-miR-3668	CLIP-seq
MIRT1483215	hsa-miR-4424	CLIP-seq
MIRT1483216	hsa-miR-494	CLIP-seq
MIRT1483217	hsa-miR-9	CLIP-seq
MIRT1483218	hsa-miR-1323	CLIP-seq
MIRT1483219	hsa-miR-181a	CLIP-seq
MIRT1483220	hsa-miR-181b	CLIP-seq
MIRT1483221	hsa-miR-181c	CLIP-seq
MIRT1483222	hsa-miR-181d	CLIP-seq
MIRT1483223	hsa-miR-3163	CLIP-seq
MIRT1483224	hsa-miR-340	CLIP-seq
MIRT1483225	hsa-miR-4262	CLIP-seq
MIRT1483215	hsa-miR-4424	CLIP-seq
MIRT1483226	hsa-miR-543	CLIP-seq
MIRT1483227	hsa-miR-544	CLIP-seq
MIRT1483228	hsa-miR-548o	CLIP-seq
MIRT1483229	hsa-miR-767-3p	CLIP-seq
MIRT1555394	hsa-miR-23a	CLIP-seq
MIRT1555395	hsa-miR-23b	CLIP-seq
MIRT1555396	hsa-miR-23c	CLIP-seq
MIRT1555397	hsa-miR-3929	CLIP-seq
MIRT1555398	hsa-miR-4419b	CLIP-seq
MIRT1555399	hsa-miR-4478	CLIP-seq
MIRT1555394	hsa-miR-23a	CLIP-seq
MIRT1555395	hsa-miR-23b	CLIP-seq
MIRT1555396	hsa-miR-23c	CLIP-seq
MIRT1555400	hsa-miR-4700-3p	CLIP-seq
MIRT1555401	hsa-miR-4729	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2145500	hsa-miR-192	CLIP-seq
MIRT2145501	hsa-miR-215	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2365791	hsa-miR-1231	CLIP-seq
MIRT2365792	hsa-miR-346	CLIP-seq
MIRT2365793	hsa-miR-4288	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2365794	hsa-miR-632	CLIP-seq
MIRT2442825	hsa-miR-300	CLIP-seq
MIRT2442826	hsa-miR-381	CLIP-seq
MIRT2442827	hsa-miR-4282	CLIP-seq
MIRT2442828	hsa-miR-4666-3p	CLIP-seq
MIRT2442829	hsa-miR-513a-3p	CLIP-seq
MIRT2659398	hsa-miR-103a	CLIP-seq
MIRT2659399	hsa-miR-1179	CLIP-seq
MIRT2659400	hsa-miR-1184	CLIP-seq
MIRT2659401	hsa-miR-1206	CLIP-seq
MIRT2659402	hsa-miR-1245b-5p	CLIP-seq
MIRT2659403	hsa-miR-1261	CLIP-seq
MIRT2659404	hsa-miR-1276	CLIP-seq
MIRT1483218	hsa-miR-1323	CLIP-seq
MIRT2659405	hsa-miR-134	CLIP-seq
MIRT2659406	hsa-miR-1343	CLIP-seq
MIRT2659407	hsa-miR-135a	CLIP-seq
MIRT2659408	hsa-miR-135b	CLIP-seq
MIRT2659409	hsa-miR-136	CLIP-seq
MIRT2659410	hsa-miR-141	CLIP-seq
MIRT1483219	hsa-miR-181a	CLIP-seq
MIRT1483220	hsa-miR-181b	CLIP-seq
MIRT1483221	hsa-miR-181c	CLIP-seq
MIRT1483222	hsa-miR-181d	CLIP-seq
MIRT2659411	hsa-miR-1972	CLIP-seq
MIRT2659412	hsa-miR-200a	CLIP-seq
MIRT2659413	hsa-miR-27a	CLIP-seq
MIRT2659414	hsa-miR-27b	CLIP-seq
MIRT2659415	hsa-miR-3118	CLIP-seq
MIRT2659416	hsa-miR-3142	CLIP-seq
MIRT2659417	hsa-miR-3159	CLIP-seq
MIRT2659418	hsa-miR-3162-5p	CLIP-seq
MIRT1483223	hsa-miR-3163	CLIP-seq
MIRT2659419	hsa-miR-3164	CLIP-seq
MIRT2659420	hsa-miR-3180-5p	CLIP-seq
MIRT2659421	hsa-miR-323b-3p	CLIP-seq
MIRT1483224	hsa-miR-340	CLIP-seq
MIRT2659422	hsa-miR-3681	CLIP-seq
MIRT2659423	hsa-miR-3682-5p	CLIP-seq
MIRT2659424	hsa-miR-3924	CLIP-seq
MIRT2659425	hsa-miR-3973	CLIP-seq
MIRT2659426	hsa-miR-3977	CLIP-seq
MIRT2659427	hsa-miR-409-5p	CLIP-seq
MIRT1483225	hsa-miR-4262	CLIP-seq
MIRT2659428	hsa-miR-4289	CLIP-seq
MIRT2659429	hsa-miR-4294	CLIP-seq
MIRT2659430	hsa-miR-4310	CLIP-seq
MIRT2659431	hsa-miR-4326	CLIP-seq
MIRT2659432	hsa-miR-4521	CLIP-seq
MIRT2659433	hsa-miR-4533	CLIP-seq
MIRT2659434	hsa-miR-4645-3p	CLIP-seq
MIRT2659435	hsa-miR-4650-5p	CLIP-seq
MIRT2659436	hsa-miR-4668-3p	CLIP-seq
MIRT2659437	hsa-miR-4668-5p	CLIP-seq
MIRT2659438	hsa-miR-4691-5p	CLIP-seq
MIRT2659439	hsa-miR-4699-3p	CLIP-seq
MIRT1555400	hsa-miR-4700-3p	CLIP-seq
MIRT1555401	hsa-miR-4729	CLIP-seq
MIRT2659440	hsa-miR-4747-5p	CLIP-seq
MIRT2659441	hsa-miR-485-3p	CLIP-seq
MIRT2659442	hsa-miR-5095	CLIP-seq
MIRT2659443	hsa-miR-513a-5p	CLIP-seq
MIRT2659444	hsa-miR-520g	CLIP-seq
MIRT2659445	hsa-miR-520h	CLIP-seq
MIRT1483226	hsa-miR-543	CLIP-seq
MIRT1483228	hsa-miR-548o	CLIP-seq
MIRT2659446	hsa-miR-548u	CLIP-seq
MIRT2659447	hsa-miR-550b	CLIP-seq
MIRT2659448	hsa-miR-552	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2659449	hsa-miR-587	CLIP-seq
MIRT2659450	hsa-miR-758	CLIP-seq
MIRT2659451	hsa-miR-885-5p	CLIP-seq
MIRT2659452	hsa-miR-924	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2659398	hsa-miR-103a	CLIP-seq
MIRT2659399	hsa-miR-1179	CLIP-seq
MIRT2659400	hsa-miR-1184	CLIP-seq
MIRT2659401	hsa-miR-1206	CLIP-seq
MIRT2659402	hsa-miR-1245b-5p	CLIP-seq
MIRT2659403	hsa-miR-1261	CLIP-seq
MIRT2659404	hsa-miR-1276	CLIP-seq
MIRT1483218	hsa-miR-1323	CLIP-seq
MIRT2659405	hsa-miR-134	CLIP-seq
MIRT2659406	hsa-miR-1343	CLIP-seq
MIRT2659407	hsa-miR-135a	CLIP-seq
MIRT2659408	hsa-miR-135b	CLIP-seq
MIRT2659409	hsa-miR-136	CLIP-seq
MIRT2659410	hsa-miR-141	CLIP-seq
MIRT1483219	hsa-miR-181a	CLIP-seq
MIRT1483220	hsa-miR-181b	CLIP-seq
MIRT1483221	hsa-miR-181c	CLIP-seq
MIRT1483222	hsa-miR-181d	CLIP-seq
MIRT2659411	hsa-miR-1972	CLIP-seq
MIRT2659412	hsa-miR-200a	CLIP-seq
MIRT2694958	hsa-miR-214	CLIP-seq
MIRT2659413	hsa-miR-27a	CLIP-seq
MIRT2659414	hsa-miR-27b	CLIP-seq
MIRT2659415	hsa-miR-3118	CLIP-seq
MIRT2659416	hsa-miR-3142	CLIP-seq
MIRT2659417	hsa-miR-3159	CLIP-seq
MIRT2659418	hsa-miR-3162-5p	CLIP-seq
MIRT1483223	hsa-miR-3163	CLIP-seq
MIRT2659419	hsa-miR-3164	CLIP-seq
MIRT2659420	hsa-miR-3180-5p	CLIP-seq
MIRT2659421	hsa-miR-323b-3p	CLIP-seq
MIRT1483224	hsa-miR-340	CLIP-seq
MIRT2694959	hsa-miR-3619-5p	CLIP-seq
MIRT2659422	hsa-miR-3681	CLIP-seq
MIRT2659423	hsa-miR-3682-5p	CLIP-seq
MIRT2659424	hsa-miR-3924	CLIP-seq
MIRT2659425	hsa-miR-3973	CLIP-seq
MIRT2659426	hsa-miR-3977	CLIP-seq
MIRT2659427	hsa-miR-409-5p	CLIP-seq
MIRT1483225	hsa-miR-4262	CLIP-seq
MIRT2694960	hsa-miR-4274	CLIP-seq
MIRT2659428	hsa-miR-4289	CLIP-seq
MIRT2694961	hsa-miR-4291	CLIP-seq
MIRT2659429	hsa-miR-4294	CLIP-seq
MIRT2659430	hsa-miR-4310	CLIP-seq
MIRT2659431	hsa-miR-4326	CLIP-seq
MIRT2659432	hsa-miR-4521	CLIP-seq
MIRT2659433	hsa-miR-4533	CLIP-seq
MIRT2659434	hsa-miR-4645-3p	CLIP-seq
MIRT2659435	hsa-miR-4650-5p	CLIP-seq
MIRT2659436	hsa-miR-4668-3p	CLIP-seq
MIRT2659437	hsa-miR-4668-5p	CLIP-seq
MIRT2659438	hsa-miR-4691-5p	CLIP-seq
MIRT1555400	hsa-miR-4700-3p	CLIP-seq
MIRT2694962	hsa-miR-4704-3p	CLIP-seq
MIRT1555401	hsa-miR-4729	CLIP-seq
MIRT2659440	hsa-miR-4747-5p	CLIP-seq
MIRT2659441	hsa-miR-485-3p	CLIP-seq
MIRT2659442	hsa-miR-5095	CLIP-seq
MIRT2659443	hsa-miR-513a-5p	CLIP-seq
MIRT2659444	hsa-miR-520g	CLIP-seq
MIRT2659445	hsa-miR-520h	CLIP-seq
MIRT1483226	hsa-miR-543	CLIP-seq
MIRT1483228	hsa-miR-548o	CLIP-seq
MIRT2659446	hsa-miR-548u	CLIP-seq
MIRT2659447	hsa-miR-550b	CLIP-seq
MIRT2659448	hsa-miR-552	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2659449	hsa-miR-587	CLIP-seq
MIRT2659450	hsa-miR-758	CLIP-seq
MIRT2694963	hsa-miR-761	CLIP-seq
MIRT2659451	hsa-miR-885-5p	CLIP-seq
MIRT2694964	hsa-miR-922	CLIP-seq
MIRT2659452	hsa-miR-924	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TCF4	Unknown	19269971
TP53	Activation	12438652

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	23601700, 25122765
GO:0005539	Function	Glycosaminoglycan binding	TAS	7528742
GO:0005540	Function	Hyaluronic acid binding	IEA
GO:0005540	Function	Hyaluronic acid binding	TAS	2583089
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	25122765
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	2583089
GO:0007417	Process	Central nervous system development	IBA
GO:0008037	Process	Cell recognition	TAS	2583089
GO:0008160	Function	Protein tyrosine phosphatase activator activity	IDA	21976490
GO:0008347	Process	Glial cell migration	IDA	18431253
GO:0016020	Component	Membrane	HDA	16210410
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	ISS
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	TAS	2583089
GO:0033165	Component	Interphotoreceptor matrix	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045202	Component	Synapse	IBA
GO:0048731	Process	System development	IEA
GO:0072534	Component	Perineuronal net	IBA

Other IDs

• MIM: 118661
• HGNC: 2464
• e!Ensembl: ENSG00000038427

Protein

• UniProt ID: P13611
• Protein name: Versican core protein (Chondroitin sulfate proteoglycan core protein 2) (Chondroitin sulfate proteoglycan 2) (Glial hyaluronate-binding protein) (GHAP) (Large fibroblast proteoglycan) (PG-M)
• Protein function: May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	27 → 148	Immunoglobulin V-set domain	Domain
  PF00193	Xlink	150 → 244	Extracellular link domain	Domain
  PF00193	Xlink	251 → 346	Extracellular link domain	Domain
  PF00008	EGF	3093 → 3123	EGF-like domain	Domain
  PF00008	EGF	3131 → 3161	EGF-like domain	Domain
  PF00059	Lectin_C	3186 → 3291	Lectin C-type domain	Domain
  PF00084	Sushi	3296 → 3352	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Detected in cerebrospinal fluid, fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313). Expressed in the retina (at protein level) (PubMed:29777959). Cere
• Sequence:

  MFINIKSILWMCSTLIVTHALHKVKVGKSPPVRGSLSGKVSLPCHFSTMPTLPPSYNTSE
  FLRIKWSKIEVDKNGKDLKETTVLVAQNGNIKIGQDYKGRVSVPTHPEAVGDASLTVVKL
  LASDAGLYRCDVMYGIEDTQDTVSLTVDGVVFHYRAATSRYTLNFEAAQKACLDVGAVIA
  TPEQLFAAYEDGFEQCDAGWLADQTVRYPIRAPRVGCYGDKMGKAGVRTYGFRSPQETYD
  VYCYVDHLDGDVFHLTVPSKFTFEEAAKECENQDARLATVGELQAAWRNGFDQCDYGWLS
  DASVRHPVTVARAQCGGGLLGVRTLYRFENQTGFPPPDSRFDAYCFKPKEATTIDLSILA
  ETASPSLSKEPQMVSDRTTPIIPLVDELPVIPTEFPPVGNIVSFEQKATVQPQAITDSLA
  TKLPTPTGSTKKPWDMDDYSPSASGPLGKLDISEIKEEVLQSTTGVSHYATDSWDGVVED
  KQTQESVTQIEQIEVGPLVTSMEILKHIPSKEFPVTETPLVTARMILESKTEKKMVSTVS
  ELVTTGHYGFTLGEEDDEDRTLTVGSDESTLIFDQIPEVITVSKTSEDTIHTHLEDLESV
  SASTTVSPLIMPDNNGSSMDDWEERQTSGRITEEFLGKYLSTTPFPSQHRTEIELFPYSG
  DKILVEGISTVIYPSLQTEMTHRRERTETLIPEMRTDTYTDEIQEEITKSPFMGKTEEEV
  FSGMKLSTSLSEPIHVTESSVEMTKSFDFPTLITKLSAEPTEVRDMEEDFTATPGTTKYD
  ENITTVLLAHGTLSVEAATVSKWSWDEDNTTSKPLESTEPSASSKLPPALLTTVGMNGKD
  KDIPSFTEDGADEFTLIPDSTQKQLEEVTDEDIAAHGKFTIRFQPTTSTGIAEKSTLRDS
  TTEEKVPPITSTEGQVYATMEGSALGEVEDVDLSKPVSTVPQFAHTSEVEGLAFVSYSST
  QEPTTYVDSSHTIPLSVIPKTDWGVLVPSVPSEDEVLGEPSQDILVIDQTRLEATISPET
  MRTTKITEGTTQEEFPWKEQTAEKPVPALSSTAWTPKEAVTPLDEQEGDGSAYTVSEDEL
  LTGSERVPVLETTPVGKIDHSVSYPPGAVTEHKVKTDEVVTLTPRIGPKVSLSPGPEQKY
  ETEGSSTTGFTSSLSPFSTHITQLMEETTTEKTSLEDIDLGSGLFEKPKATELIEFSTIK
  VTVPSDITTAFSSVDRLHTTSAFKPSSAITKKPPLIDREPGEETTSDMVIIGESTSHVPP
  TTLEDIVAKETETDIDREYFTTSSPPATQPTRPPTVEDKEAFGPQALSTPQPPASTKFHP
  DINVYIIEVRENKTGRMSDLSVIGHPIDSESKEDEPCSEETDPVHDLMAEILPEFPDIIE
  IDLYHSEENEEEEEECANATDVTTTPSVQYINGKHLVTTVPKDPEAAEARRGQFESVAPS
  QNFSDSSESDTHPFVIAKTELSTAVQPNESTETTESLEVTWKPETYPETSEHFSGGEPDV
  FPTVPFHEEFESGTAKKGAESVTERDTEVGHQAHEHTEPVSLFPEESSGEIAIDQESQKI
  AFARATEVTFGEEVEKSTSVTYTPTIVPSSASAYVSEEEAVTLIGNPWPDDLLSTKESWV
  EATPRQVVELSGSSSIPITEGSGEAEEDEDTMFTMVTDLSQRNTTDTLITLDTSRIITES
  FFEVPATTIYPVSEQPSAKVVPTKFVSETDTSEWISSTTVEEKKRKEEEGTTGTASTFEV
  YSSTQRSDQLILPFELESPNVATSSDSGTRKSFMSLTTPTQSEREMTDSTPVFTETNTLE
  NLGAQTTEHSSIHQPGVQEGLTTLPRSPASVFMEQGSGEAAADPETTTVSSFSLNVEYAI
  QAEKEVAGTLSPHVETTFSTEPTGLVLSTVMDRVVAENITQTSREIVISERLGEPNYGAE
  IRGFSTGFPLEEDFSGDFREYSTVSHPIAKEETVMMEGSGDAAFRDTQTSPSTVPTSVHI
  SHISDSEGPSSTMVSTSAFPWEEFTSSAEGSGEQLVTVSSSVVPVLPSAVQKFSGTASSI
  IDEGLGEVGTVNEIDRRSTILPTAEVEGTKAPVEKEEVKVSGTVSTNFPQTIEPAKLWSR
  QEVNPVRQEIESETTSEEQIQEEKSFESPQNSPATEQTIFDSQTFTETELKTTDYSVLTT
  KKTYSDDKEMKEEDTSLVNMSTPDPDANGLESYTTLPEATEKSHFFLATALVTESIPAEH
  VVTDSPIKKEESTKHFPKGMRPTIQESDTELLFSGLGSGEEVLPTLPTESVNFTEVEQIN
  NTLYPHTSQVESTSSDKIEDFNRMENVAKEVGPLVSQTDIFEGSGSVTSTTLIEILSDTG
  AEGPTVAPLPFSTDIGHPQNQTVRWAEEIQTSRPQTITEQDSNKNSSTAEINETTTSSTD
  FLARAYGFEMAKEFVTSAPKPSDLYYEPSGEGSGEVDIVDSFHTSATTQATRQESSTTFV
  SDGSLEKHPEVPSAKAVTADGFPTVSVMLPLHSEQNKSSPDPTSTLSNTVSYERSTDGSF
  QDRFREFEDSTLKPNRKKPTENIIIDLDKEDKDLILTITESTILEILPELTSDKNTIIDI
  DHTKPVYEDILGMQTDIDTEVPSEPHDSNDESNDDSTQVQEIYEAAVNLSLTEETFEGSA
  DVLASYTQATHDESMTYEDRSQLDHMGFHFTTGIPAPSTETELDVLLPTATSLPIPRKSA
  TVIPEIEGIKAEAKALDDMFESSTLSDGQAIADQSEIIPTLGQFERTQEEYEDKKHAGPS
  FQPEFSSGAEEALVDHTPYLSIATTHLMDQSVTEVPDVMEGSNPPYYTDTTLAVSTFAKL
  SSQTPSSPLTIYSGSEASGHTEIPQPSALPGIDVGSSVMSPQDSFKEIHVNIEATFKPSS
  EEYLHITEPPSLSPDTKLEPSEDDGKPELLEEMEASPTELIAVEGTEILQDFQNKTDGQV
  SGEAIKMFPTIKTPEAGTVITTADEIELEGATQWPHSTSASATYGVEAGVVPWLSPQTSE
  RPTLSSSPEINPETQAALIRGQDSTIAASEQQVAARILDSNDQATVNPVEFNTEVATPPF
  SLLETSNETDFLIGINEESVEGTAIYLPGPDRCKMNPCLNGGTCYPTETSYVCTCVPGYS
  GDQCELDFDECHSNPCRNGATCVDGFNTFRCLCLPSYVGALCEQDTETCDYGWHKFQGQC
  YKYFAHRRTWDAAERECRLQGAHLTSILSHEEQMFVNRVGHDYQWIGLNDKMFEHDFRWT
  DGSTLQYENWRPNQPDSFFSAGEDCVVIIWHENGQWNDVPCNYHLTYTCKKGTVACGQPP
  VVENAKTFGKMKPRYEINSLIRYHCKDGFIQRHLPTIRCLGNGRWAIPKITCMNPSAYQR
  TYSMKYFKNSSSAKDNSINTSKHDHRWSRRWQESRR

• Sequence length: 3396

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
Melanoma	Pathogenic	rs80356554	RCV005887593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs80356555, rs1746018557	RCV001074432 RCV001074292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome	Pathogenic	rs80356554	RCV004556050	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wagner disease	Pathogenic; Likely pathogenic	rs80356554, rs80356553, rs80356555, rs2479126945, rs80356556, rs397515437	RCV000203314 RCV000203374 RCV000019046 RCV004595296 RCV000020591 RCV000020592 RCV000020593 RCV000020594 RCV000034807 RCV000034808 RCV000034809 RCV001199596 RCV006434455	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital heart disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARYNGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia 25, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature loss of teeth	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VCAN-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINAL DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGNER VITREORETINOPATHY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	29861382		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	11221884		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28481899		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	25587024		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	15871917		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29752348	Associate	★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	12844226		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23007696		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	9786264	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	23245439	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	11166769, 20053631		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	23245439	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	21185747	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	25587024		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15142969, 18661349, 18818413, 20652528, 22493487, 29772480		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	14766798, 15126624		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15367334, 21997179	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15142969, 18661349, 18818413, 20652528, 22493487, 29772480		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32778054, 35607269	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	14613585	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15599946, 18819099		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	35774294, 36930067	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22406535		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	37626330	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23201264, 8627343		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19662655, 21079779, 21505857, 22282653, 22862967, 23449934, 29955124, 31334111		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21791066, 28173833, 30236106, 34162438, 37423116	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22318369	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	25371494		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	21791066	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22094876	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28242813, 33604385, 36518267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28481899, 31334111		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	35043389	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22997493, 29497050, 32311840, 36407083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	34866441	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	30236106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22406535		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	18383852		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29502190		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31731384	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22094876, 28242813, 36314741	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15220367	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20619446, 21541039, 29748371		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29310782		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	32854301, 36333947	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25135788	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25135788		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29497050	Associate	★☆☆☆☆ Found in Text Mining only
Chondromyxoid fibroma	Chondromyxoid Fibroma	BEFREE	17559135		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	21671478		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	30298299		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23024773, 31311999		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22117690, 28138236		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	2222452, 27287872, 30237752		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12385781, 22711178, 28481899	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	2222452		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26873137, 28320945, 28754680		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22711178, 23372686, 24951259, 26873137, 34130530	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16007190, 28242813		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	12377743		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	14695326		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	39909351	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	29752348	Associate	★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	18253748		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	18253748		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36788507	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24677718	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24677718		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34087849, 34557161, 39849979	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23024773		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1	Ehlers-Danlos Syndrome	BEFREE	31669737		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	14519645, 30394708		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17065588		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17065588	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29748371		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36569220	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34404882	Associate	★☆☆☆☆ Found in Text Mining only
Exudative vitreoretinopathy 1	Exudative vitreoretinopathy	Pubtator	32854301	Associate	★☆☆☆☆ 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
Fibroid Tumor	Leiomyoma	BEFREE	19700613, 22425196, 22901846, 24934492, 25320080, 28323982, 28929861		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30944246		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	35239706	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21244575		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21244575	Associate	★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	30298299		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	18253748		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	36518267	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33694259	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	11805102, 17453002		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11805102, 17453002, 28161812	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17453002, 25064688, 25452390, 8627343		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	11168935	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	23024773		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	29615349	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	34078122	Associate	★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	29728109		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32802835	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure Diastolic	Heart failure	Pubtator	29752348	Associate	★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	BEFREE	10198161, 11450497, 16043844, 16877430, 18309337, 19901218, 22739342, 23462753, 23592912, 24174867, 27667122, 30055036		★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	CLINVAR_DG	16043844, 16636652, 16877430, 17035272, 19901218, 21738396, 22739342, 23462753, 23571384, 24174867		★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	30298299		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30622695		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37955024	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17537234	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29310782		★☆☆☆☆ Found in Text Mining only
Intermittent Claudication	Claudication	Pubtator	29615349	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	16917090, 18484070, 19506372, 20053631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial Aneurysm	LHGDN	16917090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	40294794	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Hypertension	Intracranial hypertension	Pubtator	18613964	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	25135788	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23024773		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	23024773		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	18383852	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	GWASCAT_DG	25194280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	25320080, 26723257		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	18248652, 19700613, 22901846, 22925684, 24934492, 26409322, 26423601, 26776909, 28212568, 28323982, 28929861, 29747655, 30567472	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	14977887, 25320080, 26723257		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19131553	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34568834, 39506790	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31777586		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	25320080, 26723257		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23180826, 29765250, 30297672, 31605014		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25064447	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	25371494, 28077237, 29310782		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21742797	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17065588, 37259101	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22318369, 33604385	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17453002		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19662655, 21079779, 21505857, 22096483, 22282653, 22862967, 23449934, 29955124, 31334111		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	14519645, 30394708		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28242813, 31534630		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	18383852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23180826		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29502190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20619446, 21541039, 29748371		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31297881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11221884, 14613585, 15599946, 17728259, 19047182		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22001346		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19058179, 19655167, 25275064, 30867749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22406535		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16540432, 18383852, 18724390, 19655167, 21505857, 22393310, 23519970, 24927163, 25715761, 25915825, 27287872, 28242813, 29748371, 8752156		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27287872, 30237752		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15073129		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21079779		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29515038		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	8627343		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	11839575		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11839575, 12972299, 15645431, 19269971, 21078678, 21136024, 29042947		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	11839575, 12972299, 19073385		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	11839575, 12972299, 16847433, 19269971, 21078678	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19269971	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	8627343		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30713792		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	36523602	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24723682, 25623955, 30891618, 31532704		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30891618	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31532704, 37406588	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29211034		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16311904		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	27346868, 34166520	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	31801372	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11839575, 14766798, 15126624, 15645431, 18383852, 18724390, 21078678, 21079779, 21244575, 21671478, 22094876, 22282653, 22393310, 22406535, 23201264, 23424670, 23449934, 23824740, 24513039, 24999371, 25275064, 25320080, 25587024, 25872924, 26723257, 27287872, 28481899, 28754680, 29042947, 29212223, 29222454, 29502190, 29748371, 30713792, 31771905, 8627343		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	8627343		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28684419		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21722824		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	31771905		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	16643666	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36314741	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16316342, 37918800	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32407894	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	16540432, 25562163		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	16540432, 25562163, 40321814	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	20062075		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	17065588	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22246450, 25510701	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20619446, 21541039, 23424670, 23824740, 29748371		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22113853, 23824740, 30448260	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31297881		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36061357	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	14613585, 35112150	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24189015	Stimulate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	26873137	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	30713792		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	14558097		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASDB_DG	21151128		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27908842		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11221884, 14613585, 15599946, 17728259, 19047182		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	18819099		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	18819099, 34606081	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	11221884		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15599946, 17728259		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17728259, 37108678	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	39849979	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20459817, 28138236	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37955024	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	25371494		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31534630		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16007190, 28242813		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	23024773		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	30657523	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	30657523, 32854301, 36333947	Associate	★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	14558097		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	22001346		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	29642006		★☆☆☆☆ Found in Text Mining only
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	BEFREE	18309337		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16731595, 28035060, 35358652	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19655167, 22393310, 25275064, 30867749		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22393310, 31939331, 33015179, 33381592, 33631054, 33791386, 34356118, 35756405, 36203562, 36842141, 39556054	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	25135788	Associate	★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	15138331, 16219640		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	23571024	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28869452		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	28869452	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	32493700	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	11325821		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33604385, 37108649, 37461061	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	37108649	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	20729814	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	19700613, 22425196, 22901846, 24934492, 25320080, 28323982, 28929861		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	17003493	Inhibit	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	24174867		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	24174867	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	15142969		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	15142969		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	23571024, 34166520	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32854301, 36333947	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	BEFREE	19901218, 30657523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	30657523	Associate	★☆☆☆☆ Found in Text Mining only
Wagner disease	Wagner syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)