ITGB4 (integrin subunit beta 4)

Gene

• Entrez ID: 3691
• Gene name: Integrin subunit beta 4
• Gene symbol: ITGB4
• Synonyms (NCBI Gene): CD104, GP150, JEB5A, JEB5B
• Disease Acronyms (UniProt): JEB5A, JEB5B
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338755	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs121912461	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121912462	C>A,T	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs121912463	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs121912464	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs121912465	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121912466	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912467	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs121912468	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs145976111	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147222357	G>A,T	Pathogenic	Splice donor variant
rs148770294	C>A,G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs752657203	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs758551913	A>G	Likely-pathogenic	Splice acceptor variant
rs762236241	T>C	Likely-pathogenic	Splice donor variant
rs772142634	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs794726676	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886041205	->T	Pathogenic	Splice donor variant
rs1064795468	AGGGCCCTGGCTCA>-	Likely-pathogenic	Intron variant
rs1178371226	AG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1480399395	CGGCGCTGCAACACCCAGGCGGAGCTGCTGGCC>-	Pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant
rs1568366397	C>A	Pathogenic	Coding sequence variant, stop gained
rs1568385656	TGGC>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001362	hsa-miR-1-3p	pSILAC	18668040
MIRT018576	hsa-miR-335-5p	Microarray	18185580
MIRT020864	hsa-miR-155-5p	Proteomics	18668040
MIRT001362	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT028554	hsa-miR-30a-5p	Proteomics	18668040
MIRT031876	hsa-miR-16-5p	Proteomics	18668040
MIRT756455	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36995683
MIRT1074155	hsa-miR-184	CLIP-seq
MIRT1074156	hsa-miR-1915	CLIP-seq
MIRT1074157	hsa-miR-205	CLIP-seq
MIRT1074158	hsa-miR-3127-3p	CLIP-seq
MIRT1074159	hsa-miR-3194-3p	CLIP-seq
MIRT1074160	hsa-miR-3200-3p	CLIP-seq
MIRT1074161	hsa-miR-3943	CLIP-seq
MIRT1074162	hsa-miR-4313	CLIP-seq
MIRT1074163	hsa-miR-4323	CLIP-seq
MIRT1074164	hsa-miR-4726-3p	CLIP-seq
MIRT1074165	hsa-miR-4768-3p	CLIP-seq
MIRT1074166	hsa-miR-665	CLIP-seq
MIRT1550311	hsa-miR-1207-5p	CLIP-seq
MIRT1550312	hsa-miR-1908	CLIP-seq
MIRT1550313	hsa-miR-3151	CLIP-seq
MIRT1550314	hsa-miR-4648	CLIP-seq
MIRT1550315	hsa-miR-4651	CLIP-seq
MIRT1550316	hsa-miR-4763-3p	CLIP-seq
MIRT1550317	hsa-miR-4787-5p	CLIP-seq
MIRT1550318	hsa-miR-486-3p	CLIP-seq
MIRT1550319	hsa-miR-608	CLIP-seq
MIRT1550320	hsa-miR-663	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZEB1	Unknown	20729552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IPI	24851274
GO:0005178	Function	Integrin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	2649503, 11375975, 12482924, 19242489, 19403692, 20603614, 21880726, 24007983, 24851274, 25703379, 27178753
GO:0005604	Component	Basement membrane	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005886	Component	Plasma membrane	IDA	21310825, 24851274
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IBA	21873635
GO:0006914	Process	Autophagy	IMP	24007983
GO:0007155	Process	Cell adhesion	NAS	2311577
GO:0007160	Process	Cell-matrix adhesion	IBA	21873635
GO:0007160	Process	Cell-matrix adhesion	IMP	23496044
GO:0007229	Process	Integrin-mediated signaling pathway	IBA	21873635
GO:0008305	Component	Integrin complex	IBA	21873635
GO:0008305	Component	Integrin complex	IEA
GO:0009611	Process	Response to wounding	IDA	19403692
GO:0009925	Component	Basal plasma membrane	IEA
GO:0009986	Component	Cell surface	IBA	21873635
GO:0009986	Component	Cell surface	IDA	19933311, 21310825
GO:0016477	Process	Cell migration	IBA	21873635
GO:0030054	Component	Cell junction	IDA
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031252	Component	Cell leading edge	IDA	19403692
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0031581	Process	Hemidesmosome assembly	IMP	23496044
GO:0031581	Process	Hemidesmosome assembly	TAS
GO:0031965	Component	Nuclear membrane	IDA
GO:0031994	Function	Insulin-like growth factor I binding	IDA	22351760
GO:0032290	Process	Peripheral nervous system myelin formation	IEA
GO:0033627	Process	Cell adhesion mediated by integrin	IBA	21873635
GO:0035878	Process	Nail development	IMP	23496044
GO:0038132	Function	Neuregulin binding	IDA	20682778
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043589	Process	Skin morphogenesis	IMP	23496044
GO:0046847	Process	Filopodium assembly	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEP	23154389
GO:0048870	Process	Cell motility	IMP	19403692
GO:0061450	Process	Trophoblast cell migration	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 147557
• HGNC: 6158
• e!Ensembl: ENSG00000132470

Protein

• UniProt ID: P16144
• Protein name: Integrin beta-4 (GP150) (CD antigen CD104)
• Protein function: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and th
• PDB: 1QG3, 2YRZ, 3F7P, 3F7Q, 3F7R, 3FQ4, 3FSO, 3H6A, 4Q58, 4WTW, 4WTX, 6GVK, 6GVL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17205	PSI_integrin	28 → 73	Integrin plexin domain	Domain
  PF00362	Integrin_beta	125 → 370	Integrin beta chain VWA domain	Domain
  PF18372	I-EGF_1	457 → 485	Integrin beta epidermal growth factor like domain 1	Domain
  PF07974	EGF_2	543 → 573	EGF-like domain	Domain
  PF07965	Integrin_B_tail	626 → 710	Integrin beta tail domain	Domain
  PF03160	Calx-beta	979 → 1084	Calx-beta domain	Domain
  PF00041	fn3	1128 → 1208	Fibronectin type III domain	Domain
  PF00041	fn3	1221 → 1310	Fibronectin type III domain	Domain
  PF00041	fn3	1529 → 1612	Fibronectin type III domain	Domain
  PF00041	fn3	1642 → 1728	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.
• Sequence:

  MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRR
  CNTQAELLAAGCQRESIVVMESSFQITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFEL
  EVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVDKVSV
  PQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQGERISGNLDAPEGGFDAIL
  QTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYR
  TQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLE
  EAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDG
  THVCQLPEDQKGNIHLKPSFSDGLKMDAGIICDVCTCELQKEVRSARCSFNGDFVCGQCV
  CSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVCYGEGRYEGQFCEYDN
  FQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGR
  CHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDE
  LKRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLL
  LLPLLALLLLLCWKYCACCKACLALLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLR
  SGNLKGRDVVRWKVTNNMQRPGFATHAASINPTELVPYGLSLRLARLCTENLLKPDTREC
  AQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLK
  LTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQL
  LVEAIDVPAGTATLGRRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGG
  KSQVSYRTQDGTAQGNRDYIPVEGELLFQPGEAWKELQVKLLELQEVDSLLRGRQVRRFH
  VQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGS
  RKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYG
  AQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLV
  NDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQP
  KRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLG
  EELDLRRVTWRLPPELIPRLSASSGRSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGE
  HLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEH
  SHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGY
  SVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIES
  QVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEM
  AQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGG
  PFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEF
  VSRTLTTSGTLSTHMDQQFFQT

• Sequence length: 1822

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Assembly of collagen fibrils and other multimeric structures
Laminin interactions
Syndecan interactions
Type I hemidesmosome assembly

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Amelogenesis imperfecta	Amelogenesis Imperfecta	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Anonychia	ANONYCHIA	rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Aplasia cutis congenita	Aplasia Cutis Congenita, Aplasia cutis congenita	rs587777706	18348258, 31184804
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157	18348258
Epidermolysis bullosa	Epidermolysis Bullosa, Epidermolysis Bullosa Herpetiformis Dowling-Meara, Epidermolysis Bullosa Progressiva, Epidermolysis Bullosa Simplex Kobner, Epidermolysis bullosa with pyloric atresia, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder), Localized junctional epidermolysis bullosa	rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901, rs1558088792, rs121912466, rs2147483647, rs746056280, rs121912832, rs121912833, rs121912834, rs121912836, rs121912837, rs759990189, rs121912839, rs121912844, rs121912845, rs1575495784, rs121912848, rs121912849, rs121912851, rs121912852, rs121912853, rs121912854, rs121912855, rs121912769, rs1564673127, rs121912770, rs753898533, rs121912771, rs1589562891, rs2134563935, rs2134581672, rs121912772, rs121912773, rs121912774, rs121912856, rs201551805, rs769967565, rs786204774, rs797045084, rs886039330, rs886039412, rs1553277702, rs886041187, rs368007918, rs886041186, rs766902987, rs886041555, rs752657203, rs757415879, rs886058642, rs752317971, rs201307156, rs1057517096, rs774133746, rs772421306, rs758886532, rs144023803, rs1057517723, rs760063197, rs916512411, rs772381373, rs768128088, rs374718902, rs762162799, rs1064793916, rs780623622, rs747522386, rs1064793760, rs775196743, rs1131691385, rs201940939, rs200972872, rs139318843, rs1368134215, rs1203706188, rs772038362, rs1553281335, rs1181742615, rs1553853022, rs1553612928, rs1055680335, rs1057517023, rs760094345, rs1560241522, rs199527325, rs751535193, rs767539005, rs775244527, rs769808745, rs1032335328, rs1478395810, rs777672897, rs1575466699, rs776841521, rs1589572214, rs761388039, rs769294243, rs761927109, rs754621187	18348258, 7545057, 11328943, 11251584, 10873890, 9546354, 10484780, 9892956, 10792571, 9422533, 9792864, 12485428
Epidermolysis bullosa simplex	Epidermolysis Bullosa Simplex, Epidermolysis bullosa simplex, Ogna type, Weber-Cockayne Syndrome	rs1565118389, rs121918354, rs1558193923, rs786205251, rs786205253, rs786205254, rs80338756, rs864309671, rs137853160, rs864309672, rs137853161, rs59629244, rs60399023, rs58330629, rs57121345, rs60725382, rs61371557, rs28928893, rs57358989, rs58380626, rs57364972, rs58762773, rs60171927, rs57599352, rs58058996, rs58072617, rs58163069, rs60586163, rs121912474, rs57499817, rs60715293, rs121912475, rs57348201, rs61126080, rs59115483, rs59190510, rs864309674, rs387906801, rs387906802, rs201045495, rs267607458, rs59243757, rs62642056, rs56922686, rs267607456, rs267607457, rs59840738, rs57142010, rs61297109, rs56974573, rs61536893, rs58393329, rs61664582, rs267607389, rs59442925, rs58357841, rs57278315, rs60338701, rs61263401, rs60470268, rs61027685, rs200779504, rs267607406, rs58560979, rs60090257, rs60231560, rs374419983, rs886037957, rs886037956, rs749309384, rs1057515580, rs1555156076, rs1553275192, rs1565593355, rs1571564381, rs1571557821	10484780, 12485428
Glomerulonephritis	Glomerulonephritis	rs778043831
Hypohidrotic ectodermal dysplasia	Anhydrotic Ectodermal Dysplasias	rs104894415, rs28937872, rs104894416	18348258
Junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa, Adult junctional epidermolysis bullosa (disorder), Intermediate generalized junctional epidermolysis bullosa	rs80356682, rs121912482, rs786205095, rs769151482, rs118203901, rs121912467, rs121912468, rs121912769, rs80356681, rs370148688, rs770302956, rs778012079, rs201307156, rs1057516759, rs1057517096, rs1057516539, rs774133746, rs754289857, rs1064793896, rs775196743, rs747916314, rs759518184, rs1554848576, rs1210666598, rs1553266871, rs1418276828, rs1158945258, rs775244527, rs1558092158, rs1571803654, rs774734592, rs778026407	7545057, 10484780, 10792571, 12485428
Junctional epidermolysis bullosa gravis of herlitz	Herlitz Disease	rs137852757, rs80356682, rs80356680, rs121912483, rs121912484, rs121912485, rs769151482, rs1558092501, rs80356683, rs118203899, rs80356681, rs80356679, rs80356678, rs151190720, rs767847211, rs753268823, rs146794392, rs201551805, rs769967565, rs776537364, rs371267954, rs786204732, rs886041893, rs1553277702, rs886045870, rs763559509, rs771613805, rs1057516806, rs1057517353, rs759509443, rs1057516410, rs745512079, rs1057516444, rs757617349, rs1057516218, rs774080932, rs1057516487, rs1057516569, rs778012079, rs776142807, rs1057516383, rs1057516727, rs1057516935, rs1057517159, rs1057516473, rs201307156, rs1057516400, rs1057516759, rs1057516756, rs777292177, rs1057516838, rs1057516486, rs1057517207, rs1057516822, rs1057516219, rs1057517096, rs1057517290, rs1057516316, rs1057517395, rs1057516249, rs1057516809, rs1057516539, rs1057516693, rs370148688, rs1057516947, rs1057516399, rs1057516241, rs1057517258, rs1057516675, rs1057517312, rs1057516884, rs1057516512, rs752030611, rs1057517023, rs1057516475, rs1057517235, rs1057517367, rs1057517314, rs1057516584, rs1057516688, rs1057516280, rs1057516476, rs1057517196, rs1057516279, rs1057516605, rs774133746, rs1057516764, rs1057517211, rs1057517272, rs1057517440, rs772421306, rs747916314, rs772038362, rs759518184, rs1553277267, rs1553265770, rs1553266052, rs1553266671, rs1553267345, rs1553267554, rs1553267679, rs1553267885, rs1178041263, rs1553279044, rs1553279073, rs1553265902, rs1479808203, rs1553266260, rs1553264644, rs1553266433, rs1553267638, rs1553265794, rs1553267882, rs1043996591, rs1553266537, rs774472247, rs1553267007, rs1553276216, rs1553266871, rs1553267356, rs1553267060, rs1553276430, rs1418276828, rs1553267499, rs1375506940, rs1186161867, rs1553277072, rs1553267870, rs1553275219, rs753711190, rs1553276110, rs1553276268, rs1464038626, rs1553281291, rs1553276488, rs1553277432, rs1553277686, rs778372285, rs1555724066, rs1555728701, rs747547191, rs1231716161, rs1555724108, rs1555728297, rs1555731178, rs1158945258, rs1555732431, rs1555730209, rs1555734356, rs1555737509, rs1555732032, rs765104557, rs1303193834, rs1555735252, rs1555736532, rs1555740963, rs754558574, rs1401574168, rs1555746079, rs1555736608, rs1555737629, rs1555740945, rs1555744812, rs1555754655, rs1555751482, rs1555721815, rs1555732528, rs1555737473, rs1555737779, rs1356353167, rs768415785, rs1555740717, rs1555745207, rs1555745317, rs1555754450, rs1234435123, rs1555720521, rs900100444, rs1555728319, rs1555732939, rs1555734513, rs141789403, rs1555743454, rs1555743457, rs1555744805, rs1555745263, rs34754160, rs1555751423, rs1555751529, rs1296034886, rs777672897, rs1571796718	7545057
Junctional epidermolysis bullosa with pyloric atresia	Junctional epidermolysis bullosa with pyloric atresia	rs794726676, rs121912461, rs121912462, rs80338755, rs121912463, rs147222357, rs121912464, rs121912465, rs1434530468, rs121912467, rs121912468, rs758551913, rs879255260, rs886041205, rs752657203, rs772142634, rs551348450, rs545619665
Lung carcinoma	Non-Small Cell Lung Carcinoma	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	27107458
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561

Unknown
Disease term	Disease name	Evidence	References	Source
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia			ClinVar
Junctional Epidermolysis Bullosa	junctional epidermolysis bullosa, non-Herlitz type, generalized junctional epidermolysis bullosa non-Herlitz type			GenCC
Epidermolysis Bullosa Simplex	epidermolysis bullosa simplex 5C, with pyloric atresia, epidermolysis bullosa simplex 1C, localized, epidermolysis bullosa simplex			GenCC
Epidermolysis Bullosa	localized junctional epidermolysis bullosa, non-Herlitz type			GenCC
Aplasia Cutis Congenita	aplasia cutis congenita			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Lung Injury	Associate	20512931
Adenocarcinoma	Stimulate	16489176
Adenocarcinoma of Lung	Associate	18959757, 32549766, 35029906, 35783192
Adenocarcinoma of Lung	Stimulate	38131229
Adenoma	Associate	34545326
Alzheimer Disease	Associate	37549144
Androgen Insensitivity Syndrome	Associate	25313366
Asthma	Inhibit	20705595, 24740264
Asthma	Associate	22545078, 24740264, 35958591
Bipolar Disorder	Associate	29526452
Breast Neoplasms	Associate	22673183, 26319120, 26845172, 27763564, 34036687, 37811629, 38250718
Carcinogenesis	Associate	31242404, 37371594
Carcinoma Ductal Breast	Associate	26319120
Carcinoma Hepatocellular	Associate	35657344
Carcinoma Hepatocellular	Stimulate	37603520
Carcinoma Non Small Cell Lung	Associate	27107458
Carcinoma Pancreatic Ductal	Associate	25599535
Carcinoma Renal Cell	Associate	35305660
Carcinoma Squamous Cell	Stimulate	16489176, 27107458
Cartilage Diseases	Associate	9741315
Cholangitis	Associate	34545326
Colitis Ulcerative	Associate	34545326
Colitis Ulcerative	Stimulate	34545326
Colorectal Neoplasms	Associate	19586553, 24149370, 30358171, 34361106, 35112314
Colorectal Neoplasms	Stimulate	34414684
Diabetes Gestational	Associate	38093364
Drug Hypersensitivity	Associate	22545078
Endometrial Neoplasms	Associate	37737665
Epidermolysis Bullosa	Associate	20443817, 33921969, 36578049, 9546354
Epidermolysis Bullosa Junctional	Associate	34046686, 35921091
Epidermolysis Bullosa Pruriginosa	Associate	36578049
Epidermolysis Bullosa Simplex	Associate	12485428
Epidermolysis bullosa with pyloric atresia	Associate	15654962, 15912478, 39322060, 9182827, 9422533, 9792864
Esophageal Squamous Cell Carcinoma	Associate	31345182, 38320632
Glioblastoma	Associate	22496621, 24265816
Glioma	Stimulate	38172503
Glomerulosclerosis Focal Segmental	Associate	29138824
Infections	Inhibit	35958591
Inflammation	Inhibit	20512931
Inflammation	Associate	22545078
Leukemia Myeloid	Associate	3118989
Lung Injury	Associate	20512931
Lung Neoplasms	Associate	18959757, 8080732
Lung Neoplasms	Stimulate	38131229
Lymphatic Metastasis	Associate	25472585
Lymphatic Metastasis	Stimulate	25599535
Malignant mesenchymal tumor	Associate	28270621
Neoplasm Invasiveness	Stimulate	27107458
Neoplasm Metastasis	Associate	24006899, 37371594
Neoplasm Metastasis	Stimulate	35305660, 36076232
Neoplasms	Associate	24149370, 24885350, 25945837, 28270621, 30114689, 30358171, 31048929, 33545567, 34361106, 35112314, 35305660, 37371594, 38172503
Neoplasms	Stimulate	36076232
Neuroblastoma	Associate	29526452
Neurofibrosarcoma	Associate	15255999
Non Muscle Invasive Bladder Neoplasms	Associate	30114689
Ovarian Neoplasms	Associate	26223322, 29218693, 32878513
Pancreatic Neoplasms	Associate	22275185, 31242404, 33073486, 36311789
Pancreatitis	Associate	31242404
Prostatic Neoplasms	Associate	20021671, 20729552
Pyloric Atresia	Associate	39322060, 9546354
Schizophrenia	Associate	29526452
Sepsis	Associate	15912478, 30280950
Squamous Cell Carcinoma of Head and Neck	Associate	18224668, 24006899, 25945837, 33545567, 36076232, 37371594
Status Asthmaticus	Associate	22545078
Stomach Neoplasms	Associate	25472585, 30361615
Systemic Inflammatory Response Syndrome	Associate	20512931
Thyroid Cancer Papillary	Associate	40157360
Triple Negative Breast Neoplasms	Associate	28270621
Urinary Bladder Neoplasms	Associate	34402716