Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7148
Gene name	Tenascin XB
Gene symbol	TNXB
Synonyms (NCBI Gene)	EDS3EDSCLLEDSCLL1HXBLTENXTN-XTNXTNXB1TNXB2TNXBSVUR8XBXBS
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,

Show/Hide all (14)

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

Show/Hide all (16)

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

Show/Hide all (44)

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

MIM	HGNC	e!Ensembl
600985	11976	ENSG00000168477

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

Interactions

View interactions

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

2816

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Ehlers-Danlos syndrome	Likely pathogenic; Pathogenic	rs755541448, rs2127254498, rs2151900685, rs2151892576, rs2151892569, rs2151892548, rs773500008	RCV002278088 RCV002278117 RCV002278142 RCV002278149 RCV002278150 RCV002278679 RCV002278681
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 View all (8 more)	RCV005047385 RCV005864574 RCV001787232 RCV003388029 RCV005040375 RCV001810327 RCV005038326 RCV002051653 RCV005032215 RCV005042776 RCV002293284 RCV002471429 RCV002051615 RCV002051616 RCV005036674 RCV003317931 RCV003486525 RCV004018293 RCV004595263 RCV002288987 RCV005044905 RCV005047302 RCV001290388
See cases	Likely pathogenic	rs2151921014	RCV002252898
TNXB-related disorder	Likely pathogenic; Pathogenic	rs2151897511, rs764070148, rs779751914, rs34629684, rs749890642, rs750030373	RCV003900795 RCV004751208 RCV003963782 RCV003402975 RCV003401402 RCV003406002
TNXB-related hypermobile Ehlers-Danlos syndrome	Pathogenic	rs968981994	RCV001837731
Vesicoureteral reflux 8	Likely pathogenic; Pathogenic	rs1777434181, rs200357005, rs2151900298, rs2151891292, rs761635725, rs759929653, rs2151915093, rs764867655, rs587777684, rs755541448, rs2127254498, rs765028734, rs764070148, rs762652171, rs2483772174, rs1554334255, rs1779660599 View all (2 more)	RCV005047385 RCV001785074 RCV001785075 RCV001783885 RCV001783886 RCV001783887 RCV001783888 RCV005038326 RCV000133611 RCV005032215 RCV005042776 RCV003130718 RCV005031428 RCV003132923 RCV003493247 RCV005044905 RCV005047302

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs2269429	RCV005894076
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs4959085, rs59619270	RCV005918979 RCV005894071
Cholangiocarcinoma	Benign	rs2269429	RCV005894078
Clear cell carcinoma of kidney	Benign	rs59619270	RCV005894072
Colon adenocarcinoma	Likely benign; Benign	rs376973241, rs199828189	RCV005931825 RCV005869183
Ehlers-Danlos syndrome, type 3	Conflicting classifications of pathogenicity; Uncertain significance	rs201397168, rs1187997184	RCV000199167 RCV000509095
Familial cancer of breast	Likely benign; Benign	rs145061705, rs184878358	RCV005914873 RCV005917577
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity; Benign	rs529527925, rs4959085, rs61744970, rs199828189, rs204885	RCV005917433 RCV005918980 RCV005915096 RCV005869185 RCV005894069
Hepatocellular carcinoma	Likely benign; Conflicting classifications of pathogenicity	rs529527925, rs4959085	RCV005917432 RCV005918978
Lung cancer	Benign; Likely benign	rs59619270, rs204885, rs150379644	RCV005894075 RCV005894070 RCV005894067
Malignant tumor of esophagus	Likely benign; Benign	rs6457475, rs204885	RCV005916182 RCV005894068
Malignant tumor of urinary bladder	Likely benign	rs751200506	RCV005931831
Ovarian cancer	Benign	rs199828189	RCV005869184
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs199688928, rs59619270, rs150379644	RCV005930079 RCV005894074 RCV005894066
Sarcoma	Likely benign; Uncertain significance; Benign	rs6457475, rs200942848, rs59619270	RCV005916183 RCV005920750 RCV005894073
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs753765905	RCV005931874
Uterine carcinosarcoma	Benign	rs2269429	RCV005894077
Uterine corpus endometrial carcinoma	Uncertain significance	rs768698539	RCV005931870
Vesicoureteral reflux	Uncertain significance	rs2127293388	RCV002508966

Show/Hide Text Mining Associations (81)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	26356813
Adrenal hyperplasia 2	Associate	27297501, 36833192
Adrenal Hyperplasia Congenital	Associate	10207042, 19921645, 23284009, 24380766, 26075496, 27297501, 31229653, 31666125, 33332743, 36264454, 36833192
Alopecia Areata	Associate	29080678
Aneurysm	Associate	39382597
Aortic Aneurysm Abdominal	Associate	21048318
Aortic Dissection	Associate	40650310
Arthritis Juvenile	Stimulate	36167601
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity	Associate	19921645
Asthma	Associate	32867763
Breast Neoplasms	Stimulate	39351539
Cakut	Associate	29197384
Calcinosis	Associate	39313278
Carcinogenesis	Associate	29027401
Carcinoma Squamous Cell	Associate	36451444
Cardiovascular Diseases	Associate	28253292
Chromosome Deletion	Associate	19921645, 31666125
Cognitive Dysfunction	Associate	19643930
Colorectal Neoplasms	Associate	34311674
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Associate	27297501, 30419250, 31666125, 36264454, 36833192
Congenital central hypoventilation syndrome	Associate	36833192
Connective Tissue Diseases	Associate	31666125
Constipation	Associate	31775249
Contracture	Associate	31775249
Contusions	Associate	11642233
Daneman Davy Mancer syndrome	Associate	31775249
Diabetes Gestational	Associate	35721735
Diabetes Mellitus Type 1	Associate	29066732
Ehlers Danlos Syndrome	Associate	19921645, 20853426, 22223454, 23284009, 23830591, 24380766, 26075496, 27297501, 31229653, 31666125, 31731524, 31775249, 33332743, 33737726, 35128805, 39382597, 40598578 View all (2 more)
Ehlers Danlos syndrome type 1	Associate	31731524
Ehlers Danlos syndrome type 3	Associate	20853426, 23830591, 33332743
Endocrine System Diseases	Associate	19921645
Endometrial Neoplasms	Associate	29027401
Epiphyseal dysplasia multiple 1	Associate	24380766
Foot Deformities	Associate	31775249
Fragile X Syndrome	Associate	31775249
Glaucoma	Associate	32606567
Hemorrhage	Associate	31775249, 40598578
HIV Infections	Associate	19107206
Hypertension	Associate	32977860, 33792450
Hypomagnesemia primary	Associate	30419250
Immunologic Deficiency Syndromes	Associate	23830591
Immunologic Deficiency Syndromes	Inhibit	31731524
Intracranial Aneurysm	Associate	39382597, 40650310
Joint Diseases	Associate	11642233
Joint Instability	Associate	23830591, 26408188, 31474720, 31775249
Kidney Diseases	Associate	29066732
Lupus Erythematosus Systemic	Associate	21067287, 29066732
Lymphatic Metastasis	Stimulate	36520032
Macular Degeneration	Associate	22694956, 26861912, 30642396
Macular Degeneration	Stimulate	26861912
Mesothelioma Malignant	Associate	19738457
Metabolic Diseases	Associate	28253292
Midline Defects X Linked	Associate	19921645
Mitral Valve Prolapse	Associate	19921645
Mouth Neoplasms	Associate	36769103
Musculoskeletal Diseases	Associate	31775249
Myocardial Infarction	Associate	23830591
Neoplasms	Associate	26356813
Ovarian Neoplasms	Associate	20969748
Panic Disorder	Associate	33542190
Phobia Social	Associate	33542190
Plaque Atherosclerotic	Associate	23830591
Pneumothorax	Associate	35128805
Pre Eclampsia	Associate	32977860
Pulmonary Disease Chronic Obstructive	Associate	28114305, 32336055, 32753590
Quadricuspid Aortic Valve	Associate	19921645
Renal Insufficiency Chronic	Associate	29066732
Retinitis	Associate	30642396
Rupture	Associate	31775249
Sarcoma Synovial	Associate	33436720
Sarcopenia	Associate	30772894
Skin Diseases	Associate	11642233
Stenosis Pulmonary Vein	Associate	31775249
Stomach Neoplasms	Associate	36520032
Stroke	Associate	23830591
Taste Disorders	Associate	36264454
Thyroid Cancer Papillary	Associate	28402931
Uropathy distal obstructive polydactyly	Associate	36995132
Uterine Cervical Neoplasms	Associate	30697971
Vesico Ureteral Reflux	Associate	23620400, 26408188

TNXB (tenascin XB)