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
• Disease Acronyms (UniProt): EDSCLL1, VUR8
• 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
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0007155	Process	Cell adhesion	ISS
GO:0008201	Function	Heparin binding	ISS
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030199	Process	Collagen fibril organization	IEA
GO:0031012	Component	Extracellular matrix	NAS	7686164
GO:0032963	Process	Collagen metabolic process	IMP	15102077
GO:0048251	Process	Elastic fiber assembly	IMP	15102077
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 27559042, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098633	Function	Collagen fibril binding	IDA	16278880

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

Causal
Disease term	Disease name	dbSNP ID	References
Classical-like ehlers-danlos syndrome	Classical-like Ehlers-Danlos syndrome type 1, EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1	rs786200922, rs786200923, rs80338764, rs2132830442, rs183495554, rs765079080, rs786205100, rs121912933, rs786205101, rs786205102, rs121912930, rs387906606, rs863223491, rs863223444, rs863223469, rs863223478, rs863223473, rs863223458, rs886042045, rs886042173, rs1060502255, rs1060502259, rs1060502242, rs769752636, rs1060502258, rs764693725, rs1060502250, rs1060502248, rs1064796684, rs1085307855, rs1131691820, rs1131691996, rs1554792011, rs1554805142, rs1554808357, rs1554726279, rs1554803622, rs1554807812, rs1554781678, rs1554787557, rs1554792869, rs1553517323, rs1554787811, rs1553513657, rs1179967153, rs1554726283, rs369016031, rs777647845, rs1554327449, rs1554327284, rs1443187318, rs1559085564, rs1559104199, rs1559085578, rs1564471440, rs1564475090, rs1564478485, rs1564455577, rs35002351, rs1564191704, rs1564457102, rs1564482508, rs1564487306, rs1564418237, rs1564446117, rs1564453831, rs1564453833, rs1564481053, rs1588448655, rs1588449879, rs1032017865, rs1588551159, rs1588589663, rs1219304070, rs1588615658, rs1576502045, rs1576517517, rs1588551226, rs1588562135, rs1588577214, rs1588477255, rs1588621711, rs1833261804, rs1834751333, rs1834837756, rs201625736, rs1837406273, rs1838291478, rs1838729952, rs1838935159, rs1838936100, rs1839084095, rs1839803841, rs1685734160, rs1835753446, rs1833255504, rs1685586746
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23886662, 25574825
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545
Ehlers-danlos syndrome	Ehlers-Danlos syndrome, type 3 (disorder), Ehlers-Danlos syndrome caused by tenascin-X deficiency	rs121917817, rs121917818, rs28937869, rs764070148, rs144556766, rs121913550, rs121913552, rs80338764, rs121912933, rs786205103, rs786205104, rs121912930, rs397509369, rs113485686, rs121912914, rs397509370, rs587779443, rs869312034, rs397509371, rs121912927, rs121912915, rs121912928, rs397509372, rs397509373, rs397509374, rs121912916, rs121912917, rs121912918, rs112456072, rs387906557, rs397509375, rs121912920, rs397509376, rs121912921, rs121912922, rs121912923, rs121912924, rs121912925, rs121912926, rs1553507557, rs72656357, rs67398234, rs66820119, rs72656364, rs72656355, rs67162110, rs72659324, rs72645347, rs67828806, rs397509377, rs387906850, rs766853150, rs72656387, rs397514721, rs533071750, rs267599120, rs398122361, rs587779416, rs587779417, rs587779418, rs587779419, rs587779420, rs553203474, rs587779421, rs587779422, rs587779423, rs587779424, rs587779425, rs587779426, rs587779427, rs587779428, rs587779429, rs587779430, rs587779431, rs587779432, rs587779433, rs587779434, rs587779435, rs587779436, rs587779437, rs587779438, rs587779439, rs587779440, rs587779441, rs587779442, rs121912919, rs587779444, rs587779445, rs587779446, rs587779447, rs587779448, rs587779449, rs587779450, rs587779451, rs587779452, rs587779453, rs587779454, rs587779455, rs587779456, rs587779457, rs587779458, rs587779459, rs587779460, rs587779461, rs587779462, rs587779463, rs587779464, rs587779465, rs587779466, rs121912913, rs587779467, rs587779468, rs587779469, rs587779470, rs587779471, rs587779472, rs587779473, rs587779474, rs587779475, rs587779476, rs587779477, rs587779478, rs587779479, rs587779480, rs587779481, rs587779482, rs587779483, rs587779484, rs587779485, rs587779486, rs587779488, rs587779489, rs587779490, rs587779491, rs587779492, rs587779493, rs587779494, rs587779495, rs587779496, rs587779497, rs587779498, rs587779499, rs587779500, rs587779501, rs587779502, rs587779503, rs587779504, rs587779505, rs587779506, rs587779507, rs587779508, rs587779509, rs587779510, rs587779511, rs587779512, rs587779513, rs587779514, rs587779515, rs587779516, rs587779517, rs587779518, rs587779519, rs587779520, rs587779521, rs587779522, rs587779523, rs587779524, rs587779525, rs587779526, rs1559053784, rs587779527, rs587779528, rs587779529, rs587779530, rs587779531, rs587779532, rs587779533, rs587779534, rs587779535, rs587779536, rs587779537, rs587779539, rs587779540, rs587779541, rs587779542, rs587779543, rs587779544, rs587779545, rs587779546, rs587779547, rs587779548, rs587779549, rs587779550, rs587779551, rs587779552, rs587779553, rs587779554, rs587779555, rs587779556, rs587779557, rs587779558, rs587779559, rs587779560, rs587779561, rs587779562, rs587779563, rs587779564, rs587779566, rs587779567, rs587779568, rs587779569, rs587779570, rs587779571, rs587779572, rs587779573, rs587779574, rs587779575, rs587779576, rs587779577, rs587779578, rs587779579, rs587779580, rs587779581, rs587779582, rs587779583, rs587779584, rs587779586, rs587779587, rs587779588, rs587779589, rs587779590, rs587779591, rs587779592, rs587779593, rs587779594, rs587779595, rs587779596, rs587779597, rs587779598, rs587779599, rs587779600, rs587779601, rs587779602, rs1559061242, rs587779603, rs587779604, rs587779605, rs587779606, rs587779607, rs587779608, rs587779609, rs587779610, rs1559057346, rs587779611, rs587779612, rs587779613, rs587779614, rs587779615, rs587779616, rs587779617, rs587779618, rs1559055162, rs587779619, rs587779620, rs587779621, rs587779622, rs587779623, rs587779624, rs587779625, rs587779626, rs587779627, rs587779628, rs111505097, rs587779629, rs786200946, rs587779630, rs587779631, rs587779632, rs113871730, rs587779633, rs587779634, rs587779635, rs587779637, rs587779638, rs587779639, rs587779640, rs587779641, rs587779642, rs587779643, rs587779644, rs587779645, rs587779646, rs587779647, rs587779648, rs587779649, rs587779650, rs587779651, rs587779652, rs111929073, rs587779653, rs587779654, rs587779655, rs587779656, rs587779657, rs587779658, rs587779659, rs587779660, rs587779661, rs587779662, rs587779663, rs1553509630, rs587779664, rs587779665, rs587779666, rs587779667, rs587779668, rs587779669, rs587779670, rs587779671, rs112371422, rs587779672, rs587779673, rs587779674, rs587779675, rs587779676, rs587779677, rs587779678, rs587779679, rs587779680, rs587779681, rs587779682, rs587779683, rs587779684, rs587779685, rs587779686, rs587779687, rs587779688, rs587779689, rs587779690, rs587779691, rs587779692, rs587779693, rs587779694, rs587779695, rs587779696, rs587779697, rs587779698, rs587779699, rs587779700, rs587779701, rs587779702, rs587779703, rs587779704, rs1553508025, rs587779705, rs587779706, rs587779707, rs587779708, rs587779709, rs587779710, rs587779711, rs587779712, rs587779713, rs587779714, rs587779715, rs587779716, rs587779717, rs587779718, rs587779719, rs587779720, rs587779721, rs587779722, rs587779723, rs587777682, rs794728040, rs794728044, rs794728054, rs794728060, rs863223491, rs375845310, rs878853651, rs187063864, rs886038952, rs886038892, rs72656370, rs67507747, rs886042045, rs886042173, rs1057518075, rs1057518372, rs749890642, rs74315111, rs1057518653, rs1057519596, rs1057521106, rs1060500194, rs587779487, rs1060500199, rs1060500187, rs1060500200, rs1060500204, rs1060500203, rs1060500193, rs72658185, rs1114167416, rs67865220, rs72648326, rs72645321, rs72667036, rs1114167408, rs1085307896, rs1131691996, rs1553509397, rs1554227382, rs1554796176, rs1553509187, rs1553507265, rs1057524653, rs1553509744, rs1553507274, rs1553509430, rs72656356, rs786205100, rs1213427451, rs1555572239, rs1554781678, rs1553508338, rs72656363, rs1553507863, rs1553508039, rs1553514506, rs1553512393, rs1553513971, rs1553515517, rs1393544920, rs1553510000, rs72658129, rs1553151294, rs1553507432, rs1553507614, rs1553509208, rs1553509391, rs1553508238, rs1410254723, rs1179967153, rs1553509726, rs1553508473, rs1559058970, rs1559061674, rs112532745, rs1559052551, rs375737772, rs1559061706, rs1559056621, rs1559052609, rs1559059873, rs1559060412, rs1559061954, rs1559063681, rs1576465155, rs1559058482, rs1234344050, rs1564481053, rs1559054653, rs1173194734, rs1562906013, rs1439043436, rs1576463632, rs1576463663, rs772827388, rs1576467133, rs755528878, rs1576468160, rs1576468332, rs1576472890, rs1576474929, rs776640704, rs1576463100, rs1576468385, rs1576473641, rs201314784, rs1588562135, rs1576468562, rs1576471840, rs1333421028, rs1584318648, rs1584318956, rs1584319045, rs1584325552, rs1584329740, rs1588597744, rs1576467391, rs1588477255, rs1588621711, rs1688258933, rs1688305296, rs1688322272, rs1688384382, rs1688417659, rs1688529460, rs1688561706, rs1688586251, rs1685782021, rs1686209873, rs1553506938	11642233, 15733269, 27582382, 23768946
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	29379198
Hypertension	Hypertensive disease	rs13306026	25249183
Lung carcinoma	Squamous cell carcinoma of lung, Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	28604730
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	19836008
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475	22694956
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	17660530, 20598377
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	17804836, 21156761, 19503088
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	30285260, 14755442, 17192952, 14729256, 28540026
Vesicoureteral reflux	Vesico-Ureteral Reflux, VESICOURETERAL REFLUX 8, Vesicoureteral Reflux 1, Familial vesicoureteral reflux	rs587777684, rs148731211	23620400

Unknown
Disease term	Disease name	Evidence	References	Source
Ambiguous genitalia	Ambiguous genitalia, female			ClinVar
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome			GenCC
Vesicoureteral Reflux	vesicoureteral reflux 8			GenCC
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Cervical Cancer	Cervical Cancer	Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2).		GWAS, CBGDA
Neuroticism	Neuroticism			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Neuromyelitis Optica	Neuromyelitis Optica			GWAS
Psoriasis	Psoriasis			GWAS
Nephrotic Syndrome	Nephrotic Syndrome			GWAS
Dental caries	Dental caries			GWAS
Progressive Supranuclear Palsy	Progressive Supranuclear Palsy			GWAS
Sarcoidosis	Sarcoidosis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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
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