ITGB4 (integrin subunit beta 4)

Gene

• Entrez ID: 3691
• Gene name: Integrin subunit beta 4
• Gene symbol: ITGB4
• Synonyms: CD104, GP150, 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

• 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 name	Disease term	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	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, 18348258, 10484780, 7545057, 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
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia	rs387907123

Unknown
Disease name	Disease term	dbSNP ID	References
Accessory kidney	Accessory kidney
Congenital pyloric atresia	Congenital pyloric atresia
Cystitis	Cystitis
Dental enamel hypoplasia	Dental Enamel Hypoplasia
Dysphagia	Deglutition Disorders
Ectropion	Ectropion
Epidermolysis bullosa simplex with pyloric atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia
Esophageal atresia	Esophageal Atresia
Glomerulosclerosis	Glomerulosclerosis (disorder)
Hidrotic ectodermal dysplasia	Hidrotic Ectodermal Dysplasia		18348258
Hydronephrosis	Hydronephrosis
Hypodontia	Hypodontia
Intestinal atresia	Intestinal Atresia
Junctional split	Junctional split
Miscarriage	Miscarriage		18539642
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Nail dystrophy	Dystrophia unguium
Pterygium	Pterygium
Pyloric atresia	Pyloric Atresia		7545057, 18348258
Salivary gland neoplasm	Salivary Gland Neoplasms		16762588
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland		16762588
Skin erosion	Skin Erosion
Ureterocele	Ureterocele
Urogenital abnormalities	Urogenital Abnormalities