TNXB (tenascin XB)

Gene

• Entrez ID: 7148
• Gene name: Tenascin XB
• Gene symbol: TNXB
• Synonyms (NCBI Gene): EDS3, EDSCLL, EDSCLL1, HXBL, TENX, TN-X, TNX, TNXB1, TNXB2, TNXBS, VUR8, XB, XBS
• Chromosome: 6
• Chromosome location: 6p21.33-p21.32
• Summary: This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912575	C>T	Pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs144556766	AC>-,ACAC	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs201397168	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs201510617	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587777682	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777683	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs587777684	C>G,T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs749890642	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs759259512	G>A,T	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, synonymous variant
rs764070148	TT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs765028734	G>-,GG,GGG	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554334255	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1562847147	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1582337456	->CACT	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036021	hsa-miR-1301-3p	CLASH	23622248
MIRT1445811	hsa-miR-3919	CLIP-seq
MIRT1445812	hsa-miR-4691-5p	CLIP-seq
MIRT1445813	hsa-miR-516a-3p	CLIP-seq
MIRT1445814	hsa-miR-137	CLIP-seq
MIRT1445815	hsa-miR-4279	CLIP-seq
MIRT1445816	hsa-miR-4328	CLIP-seq
MIRT1445817	hsa-miR-4777-3p	CLIP-seq
MIRT2133252	hsa-miR-3615	CLIP-seq
MIRT2133253	hsa-miR-4508	CLIP-seq
MIRT2133254	hsa-miR-4768-5p	CLIP-seq
MIRT2133255	hsa-miR-942	CLIP-seq
MIRT2133252	hsa-miR-3615	CLIP-seq
MIRT2133253	hsa-miR-4508	CLIP-seq
MIRT2133254	hsa-miR-4768-5p	CLIP-seq
MIRT2133255	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005178	Function	Integrin binding	ISS
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 32296183, 32814053, 35443807
GO:0005518	Function	Collagen binding	IEA
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	ISS
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008201	Function	Heparin binding	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	ISO
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	ISO
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030155	Process	Regulation of cell adhesion	IBA
GO:0030155	Process	Regulation of cell adhesion	ISO
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030334	Process	Regulation of cell migration	ISO
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	NAS	7686164
GO:0031175	Process	Neuron projection development	IBA
GO:0032963	Process	Collagen metabolic process	IMP	15102077
GO:0045595	Process	Regulation of cell differentiation	NAS	25793578
GO:0046328	Process	Regulation of JNK cascade	IEA
GO:0048251	Process	Elastic fiber assembly	IMP	15102077
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090733	Component	Tenascin complex	ISO
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098633	Function	Collagen fibril binding	IDA	16278880
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	ISO
GO:1904028	Process	Positive regulation of collagen fibril organization	IDA	17033827
GO:1905935	Process	Positive regulation of cell fate determination	NAS	25793578

Other IDs

• MIM: 600985
• HGNC: 11976
• e!Ensembl: ENSG00000168477

Protein

• UniProt ID: P22105
• Protein name: Tenascin-X (TN-X) (Hexabrachion-like protein)
• Protein function: Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors.
• PDB: 2CUH, 2CUI, 2CUM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07974	EGF_2	187 → 213	EGF-like domain	Domain
  PF18720	EGF_Tenascin	248 → 276	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	279 → 307	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	310 → 338	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	341 → 369	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	372 → 400	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	434 → 462	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	496 → 524	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	527 → 555	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	558 → 586	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	589 → 617	Tenascin EGF domain	Domain
  PF07974	EGF_2	621 → 647	EGF-like domain	Domain
  PF00041	fn3	750 → 832	Fibronectin type III domain	Domain
  PF00041	fn3	841 → 919	Fibronectin type III domain	Domain
  PF00041	fn3	1062 → 1141	Fibronectin type III domain	Domain
  PF00041	fn3	1159 → 1240	Fibronectin type III domain	Domain
  PF00041	fn3	1262 → 1342	Fibronectin type III domain	Domain
  PF00041	fn3	1373 → 1453	Fibronectin type III domain	Domain
  PF00041	fn3	1475 → 1555	Fibronectin type III domain	Domain
  PF00041	fn3	1578 → 1656	Fibronectin type III domain	Domain
  PF00041	fn3	1674 → 1753	Fibronectin type III domain	Domain
  PF00041	fn3	1777 → 1857	Fibronectin type III domain	Domain
  PF00041	fn3	1881 → 1960	Fibronectin type III domain	Domain
  PF00041	fn3	1988 → 2068	Fibronectin type III domain	Domain
  PF00041	fn3	2096 → 2176	Fibronectin type III domain	Domain
  PF00041	fn3	2196 → 2275	Fibronectin type III domain	Domain
  PF00041	fn3	2304 → 2384	Fibronectin type III domain	Domain
  PF00041	fn3	2412 → 2492	Fibronectin type III domain	Domain
  PF00041	fn3	2523 → 2603	Fibronectin type III domain	Domain
  PF00041	fn3	2629 → 2709	Fibronectin type III domain	Domain
  PF00041	fn3	2737 → 2817	Fibronectin type III domain	Domain
  PF00041	fn3	2845 → 2925	Fibronectin type III domain	Domain
  PF00041	fn3	2953 → 3033	Fibronectin type III domain	Domain
  PF00041	fn3	3061 → 3141	Fibronectin type III domain	Domain
  PF00041	fn3	3167 → 3247	Fibronectin type III domain	Domain
  PF00041	fn3	3263 → 3341	Fibronectin type III domain	Domain
  PF00041	fn3	3355 → 3436	Fibronectin type III domain	Domain
  PF00041	fn3	3449 → 3530	Fibronectin type III domain	Domain
  PF00041	fn3	3557 → 3637	Fibronectin type III domain	Domain
  PF00041	fn3	3656 → 3741	Fibronectin type III domain	Domain
  PF00041	fn3	3757 → 3836	Fibronectin type III domain	Domain
  PF00041	fn3	3846 → 3926	Fibronectin type III domain	Domain
  PF00041	fn3	3934 → 4012	Fibronectin type III domain	Domain
  PF00147	Fibrinogen_C	4026 → 4235	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB-short is only expressed in the adrenal gland.
• Sequence:

  MMPAQYALTSSLVLLVLLSTARAGPFSSRSNVTLPAPRPPPQPGGHTVGAGVGSPSSQLY
  EHTVEGGEKQVVFTHRINLPPSTGCGCPPGTEPPVLASEVQALRVRLEILEELVKGLKEQ
  CTGGCCPASAQAGTGQTDVRTLCSLHGVFDLSRCTCSCEPGWGGPTCSDPTDAEIPPSSP
  PSASGSCPDDCNDQGRCVRGRCVCFPGYTGPSCGWPSCPGDCQGRGRCVQGVCVCRAGFS
  GPDCSQRSCPRGCSQRGRCEGGRCVCDPGYTGDDCGMRSCPRGCSQRGRCENGRCVCNPG
  YTGEDCGVRSCPRGCSQRGRCKDGRCVCDPGYTGEDCGTRSCPWDCGEGGRCVDGRCVCW
  PGYTGEDCSTRTCPRDCRGRGRCEDGECICDTGYSGDDCGVRSCPGDCNQRGRCEDGRCV
  CWPGYTGTDCGSRACPRDCRGRGRCENGVCVCNAGYSGEDCGVRSCPGDCRGRGRCESGR
  CMCWPGYTGRDCGTRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGLCED
  GVCVCDAGYSGEDCSTRSCPGGCRGRGQCLDGRCVCEDGYSGEDCGVRQCPNDCSQHGVC
  QDGVCICWEGYVSEDCSIRTCPSNCHGRGRCEEGRCLCDPGYTGPTCATRMCPADCRGRG
  RCVQGVCLCHVGYGGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCP
  GDCRGRGECHDGSCVCKDGYAGEDCGEEVPTIEGMRMHLLEETTVRTEWTPAPGPVDAYE
  IQFIPTTEGASPPFTARVPSSASAYDQRGLAPGQEYQVTVRALRGTSWGLPASKTITTMI
  DGPQDLRVVAVTPTTLELGWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADGTLLTDLMP
  GVEYVVTVTAERGRAVSYPASVRANTGSSPLGLLGTTDEPPPSGPSTTQGAQAPLLQQRP
  QELGELRVLGRDETGRLRVVWTAQPDTFAYFQLRMRVPEGPGAHEEVLPGDVRQALVPPP
  PPGTPYELSLHGVPPGGKPSDPIIYQGIMDKDEEKPGKSSGPPRLGELTVTDRTSDSLLL
  RWTVPEGEFDSFVIQYKDRDGQPQVVPVEGPQRSAVITSLDPGRKYKFVLYGFVGKKRHG
  PLVAEAKILPQSDPSPGTPPHLGNLWVTDPTPDSLHLSWTVPEGQFDTFMVQYRDRDGRP
  QVVPVEGPERSFVVSSLDPDHKYRFTLFGIANKKRYGPLTADGTTAPERKEEPPRPEFLE
  QPLLGELTVTGVTPDSLRLSWTVAQGPFDSFMVQYKDAQGQPQAVPVAGDENEVTVPGLD
  PDRKYKMNLYGLRGRQRVGPESVVAKTAPQEDVDETPSPTELGTEAPESPEEPLLGELTV
  TGSSPDSLSLFWTVPQGSFDSFTVQYKDRDGRPRAVRVGGKESEVTVGGLEPGHKYKMHL
  YGLHEGQRVGPVSAVGVTAPQQEETPPATESPLEPRLGELTVTDVTPNSVGLSWTVPEGQ
  FDSFIVQYKDKDGQPQVVPVAADQREVTVYNLEPERKYKMNMYGLHDGQRMGPLSVVIVT
  APLPPAPATEASKPPLEPRLGELTVTDITPDSVGLSWTVPEGEFDSFVVQYKDRDGQPQV
  VPVAADQREVTIPDLEPSRKYKFLLFGIQDGKRRSPVSVEAKTVARGDASPGAPPRLGEL
  WVTDPTPDSLRLSWTVPEGQFDSFVVQFKDKDGPQVVPVEGHERSVTVTPLDAGRKYRFL
  LYGLLGKKRHGPLTADGTTEARSAMDDTGTKRPPKPRLGEELQVTTVTQNSVGLSWTVPE
  GQFDSFVVQYKDRDGQPQVVPVEGSLREVSVPGLDPAHRYKLLLYGLHHGKRVGPISAVA
  ITAGREETETETTAPTPPAPEPHLGELTVEEATSHTLHLSWMVTEGEFDSFEIQYTDRDG
  QLQMVRIGGDRNDITLSGLESDHRYLVTLYGFSDGKHVGPVHVEALTVPEEEKPSEPPTA
  TPEPPIKPRLGELTVTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEEGV
  TISGLEPDHKYKMNLYGFHGGQRMGPVSVVGVTAAEEETPSPTEPSMEAPEPAEEPLLGE
  LTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYK
  MHLYGLHEGRRVGPVSAVGVTAPEEESPDAPLAKLRLGQMTVRDITSDSLSLSWTVPEGQ
  FDHFLVQFKNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAVGLT
  APGKDEEMAPASTEPPTPEPPIKPRLEELTVTDATPDSLSLSWTVPEGQFDHFLVQYKNG
  DGQPKATRVPGHEDRVTISGLEPDNKYKMNLYGFHGGQRVGPVSAIGVTAAEEETPSPTE
  PSMEAPEPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGE
  ESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPQEDVDETPSPTEPGTEAPGPP
  EEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQAVRVGGQESKVTVRGL
  EPGRKYKMHLYGLHEGRRLGPVSAVGVTEDEAETTQAVPTMTPEPPIKPRLGELTMTDAT
  PDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFH
  GGQRVGPISVIGVTAAEEETPSPTELSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQ
  GHFDSFTVQYKDRDGRPQVMRVRGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVG
  VTAPEDEAETTQAVPTTTPEPPNKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRN
  GDGQPKVVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPAPT
  EPSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGRFDSFTVQYKDRDGRPQVVRVRG
  EESEVTVGGLEPGCKYKMHLYGLHEGQRVGPVSAVGVTAPKDEAETTQAVPTMTPEPPIK
  PRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEP
  DHKYKMNLYGFHGGQRVGPVSAIGVTEEETPSPTEPSTEAPEAPEEPLLGELTVTGSSPD
  SLSLSWTVPQGRFDSFTVQYKDRDGQPQVVRVRGEESEVTVGGLEPGRKYKMHLYGLHEG
  QRVGPVSTVGITAPLPTPLPVEPRLGELAVAAVTSDSVGLSWTVAQGPFDSFLVQYRDAQ
  GQPQAVPVSGDLRAVAVSGLDPARKYKFLLFGLQNGKRHGPVPVEARTAPDTKPSPRLGE
  LTVTDATPDSVGLSWTVPEGEFDSFVVQYKDKDGRLQVVPVAANQREVTVQGLEPSRKYR
  FLLYGLSGRKRLGPISADSTTAPLEKELPPHLGELTVAEETSSSLRLSWTVAQGPFDSFV
  VQYRDTDGQPRAVPVAADQRTVTVEDLEPGKKYKFLLYGLLGGKRLGPVSALGMTAPEED
  TPAPELAPEAPEPPEEPRLGVLTVTDTTPDSMRLSWSVAQGPFDSFVVQYEDTNGQPQAL
  LVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQ
  LSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVL
  RDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPP
  SRADSFKVSYQLADGGEPQSVQVDGQARTQKLQGLIPGARYEVTVVSVRGFEESEPLTGF
  LTTVPDGPTQLRALNLTEGFAVLHWKPPQNPVDTYDVQVTAPGAPPLQAETPGSAVDYPL
  HDLVLHTNYTATVRGLRGPNLTSPASITFTTGLEAPRDLEAKEVTPRTALLTWTEPPVRP
  AGYLLSFHTPGGQNQEILLPGGITSHQLLGLFPSTSYNARLQAMWGQSLLPPVSTSFTTG
  GLRIPFPRDCGEEMQNGAGASRTSTIFLNGNRERPLNVFCDMETDGGGWLVFQRRMDGQT
  DFWRDWEDYAHGFGNISGEFWLGNEALHSLTQAGDYSMRVDLRAGDEAVFAQYDSFHVDS
  AAEYYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNSLLISCAVSYRGAWWYRNCHYANL
  NGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFRSPAGGG

• Sequence length: 4244

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Human papillomavirus infection
MicroRNAs in cancer

Reactome:

ECM proteoglycans

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
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1777434181, rs749742731, rs200357005, rs764867655, rs2127254498, rs2483604684, rs2483454633, rs2483701960, rs765028734, rs764070148, rs779751914, rs762652171, rs1780315559, rs749890642, rs1779660599	RCV004227787 RCV006377320 RCV002406883 RCV002359256 RCV002373073 RCV002337756 RCV002414417 RCV002440024 RCV006372800 RCV002321475 RCV004225439 RCV005281361 RCV004524365 RCV003343804 RCV002320363	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome	Likely pathogenic; Pathogenic	rs755541448, rs2127254498, rs2151900685, rs2151892576, rs2151892569, rs2151892548, rs773500008	RCV002278088 RCV002278117 RCV002278142 RCV002278149 RCV002278150 RCV002278679 RCV002278681	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome due to tenascin-X deficiency	Likely pathogenic; Pathogenic	rs1777434181, rs2151897511, rs749742731, rs748223125, rs200357005, rs759929653, rs764867655, rs587777682, rs755541448, rs2127254498, rs1416828643, rs765028734, rs764070148, rs144556766, rs762652171, rs2483364598, rs1562851618, rs773500008, rs2483424286, rs749890642, rs1554334255, rs1779660599, rs1778646780	RCV005047385 RCV005864574 RCV001787232 RCV003388029 RCV005040375 RCV001810327 RCV005038326 RCV002051653 RCV005032215 RCV005042776 RCV002293284 RCV002471429 RCV002051615 RCV002051616 RCV005036674 RCV003317931 RCV003486525 RCV004018293 RCV004595263 RCV002288987 RCV005044905 RCV005047302 RCV001290388	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TNXB-related disorder	Likely pathogenic; Pathogenic	rs2151897511, rs764070148, rs779751914, rs34629684, rs749890642, rs750030373	RCV003900795 RCV004751208 RCV003963782 RCV003402975 RCV003401402 RCV003406002	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TNXB-related hypermobile Ehlers-Danlos syndrome	Pathogenic	rs968981994	RCV001837731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vesicoureteral reflux 8	Likely pathogenic; Pathogenic	rs1777434181, rs200357005, rs2151900298, rs2151891292, rs761635725, rs759929653, rs2151915093, rs764867655, rs587777684, rs755541448, rs2127254498, rs765028734, rs764070148, rs762652171, rs2483772174, rs1554334255, rs1779660599	RCV005047385 RCV001785074 RCV001785075 RCV001783885 RCV001783886 RCV001783887 RCV001783888 RCV005038326 RCV000133611 RCV005032215 RCV005042776 RCV003130718 RCV005031428 RCV003132923 RCV003493247 RCV005044905 RCV005047302	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL-LIKE EHLERS-DANLOS SYNDROME TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE GASTRIC ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CAUSED BY TENASCIN-X DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, type 3	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VESICOURETERAL REFLUX	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SUPRANUCLEAR PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral reflux	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	10207042, 19921645, 23284009, 24380766, 26075496, 27297501, 31229653, 31666125, 33332743, 36264454, 36833192	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22694956, 26861912, 30642396		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	22694956		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	22694956		★☆☆☆☆ Found in Text Mining only
Ambiguous genitalia, female	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	39382597	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	27367046		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21048318	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	40650310	Associate	★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	15054833		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	36167601	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	30552173		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32867763	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19738457		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39351539	Stimulate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	29197384	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	39313278	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29027401	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36451444	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	15366699		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28253292	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23830591		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29066732		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28114305		★☆☆☆☆ Found in Text Mining only
Classical-like Ehlers-Danlos syndrome type 1	Classical-Like Ehlers-Danlos Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	19643930	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34311674	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	15639189, 23284009, 24380766, 26075496, 27297501, 31229653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	15639189, 15684714, 31229653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	27297501, 30419250, 31666125, 36264454, 36833192	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	36833192	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	29470764		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	11925569, 15558324, 9288108		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	31666125	Associate	★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	31775249	Associate	★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	31775249	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASDB_DG	23886662		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	23886662, 25574825		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29066732	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29066732		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	11642233, 11925569, 15094123, 15366699, 15558324, 15733269, 15793839, 16278880, 16583246, 18335242, 20649799, 20853426, 22353005, 23284009, 23768946, 23830591, 24380766, 25772043, 26799614, 27297501, 27582382, 29291401, 29734195, 31229653, 31365140, 31731524, 31775249, 9288108		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	LHGDN	15733269		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome caused by tenascin-X deficiency	Ehlers-Danlos Syndrome	ORPHANET_DG	11642233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome caused by tenascin-X deficiency	Ehlers-Danlos Syndrome	UNIPROT_DG	11642233, 15733269, 23768946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome caused by tenascin-X deficiency	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	27582382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome caused by tenascin-X deficiency	Ehlers-Danlos Syndrome	BEFREE	9288108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome caused by tenascin-X deficiency	Ehlers-Danlos Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, type 3 (disorder)	Ehlers-Danlos Syndrome	BEFREE	23830591, 26075496, 27297501		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome, type 3 (disorder)	Ehlers-Danlos Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	BEFREE	7833919		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	19921645		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	19921645	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29027401		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29027401	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia multiple 1	Epiphyseal dysplasia	Pubtator	24380766	Associate	★☆☆☆☆ Found in Text Mining only
Familial vesicoureteral reflux	Vesicoureteral Reflux	ORPHANET_DG	23620400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial vesicoureteral reflux	Vesicoureteral Reflux	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	32606567	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	26861912		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	29066732		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	31775249, 40598578	Associate	★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28731143		★☆☆☆☆ Found in Text Mining only
Hypermobility syndrome	Hypermobility Syndrome	BEFREE	31474720		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32977860, 33792450	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASCAT_DG	25249183		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15558324		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	39382597, 40650310	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	9591795		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	29066732	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21067287, 29066732	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18058064, 21067287, 31032751		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18058064		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18058064, 21408207, 24871463		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	21408207, 26316170, 26502338, 27399966, 28714469		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36520032	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	22694956, 26861912, 30642396	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	26861912	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	19738457, 30711938		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29027401		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19738457		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19738457		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	19738457	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28253292	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	19921645	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36769103	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20598377		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	23830591		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	23830591	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23768946		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19738457, 28445515		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	17202312		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	GWASCAT_DG	29769526		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	26799614		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30922562		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20969748	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	33542190	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	30535979		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	17202312		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	LHGDN	17202312		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	11642233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	BEFREE	30535979		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28114305, 32336055, 32753590	Associate	★☆☆☆☆ Found in Text Mining only
Quadricuspid aortic valve	Quadricuspid aortic valve	BEFREE	19921645		★☆☆☆☆ Found in Text Mining only
Quadricuspid aortic valve	Quadricuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	BEFREE	29917237		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11642233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Synovial	Synovial sarcoma	Pubtator	33436720	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	30772894	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	14729256, 14755442, 17192952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	14729256, 14755442, 17192952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17192952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	11642233	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	29379198		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36520032	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23830591	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASDB_DG	20383147		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28402931	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11642233		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	20848476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	20848476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30697971	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	29470764		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	23620400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	23620400		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
VESICOURETERAL REFLUX 8	Vesicoureteral Reflux	UNIPROT_DG	23620400		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VESICOURETERAL REFLUX 8	Vesicoureteral Reflux	GENOMICS_ENGLAND_DG	23620400		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VESICOURETERAL REFLUX 8	Vesicoureteral Reflux	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitiligo	Vitiligo	GWASDB_DG	20526339		★☆☆☆☆ Found in Text Mining only