LAMA3 (laminin subunit alpha 3)

Gene

• Entrez ID: 3909
• Gene name: Laminin subunit alpha 3
• Gene symbol: LAMA3
• Synonyms (NCBI Gene): BM600, E170, JEB2A, JEB2B, JEB2C, LAMNA, LOCS
• Disease Acronyms (UniProt): JEB2A, JEB2B, JEB2C
• Chromosome: 18
• Chromosome location: 18q11.2
• Summary: The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34754160	->C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs35737354	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs80356678	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs80356679	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs137852757	C>G,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs137852758	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs141472847	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs141789403	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs147208526	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs199684626	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs571009750	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs747547191	A>T	Likely-pathogenic	Intron variant, missense variant, genic downstream transcript variant, initiator codon variant
rs752030611	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs754323928	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs754558574	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs765104557	A>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained, missense variant
rs765943112	T>C,G	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs768415785	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs772038362	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs774133746	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs786204732	T>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs886039412	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs900100444	G>A,C	Likely-pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, genic downstream transcript variant
rs1057516279	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516280	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516475	A>C,G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057516476	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057516512	C>T	Likely-pathogenic	Stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs1057516584	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516605	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057516688	GC>-	Likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1057516764	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517023	G>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517196	GCTA>CCT	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517211	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517235	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517272	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057517314	->T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517367	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517440	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1085308017	A>T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1131691680	G>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1158945258	AG>-	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1169182678	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1181742615	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1231716161	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1234435123	G>A,C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1296034886	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1303193834	AG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs1356353167	GG>-,G	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1401574168	T>C,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs1555720521	T>C	Likely-pathogenic	Intron variant, initiator codon variant, genic downstream transcript variant, missense variant
rs1555721815	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555724066	->G	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555724108	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1555728297	AG>GA	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555728319	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555728701	CCCA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555730209	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555731178	A>-	Pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555732032	C>G	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555732431	TAAG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555732528	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555732939	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555734356	A>G	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1555734513	A>G	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1555735252	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555736532	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555736608	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555737473	ACAT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555737509	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555737629	GGATCGGGTGAAATTTCAGAGGTACAAGTCTGATTGAC>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, splice donor variant, coding sequence variant, intron variant
rs1555737779	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555740717	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555740945	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555740963	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555743454	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555743457	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555744805	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555744812	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555745207	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555745215	C>-	Pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555745263	->CGGGAGCAAT	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555745317	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555746079	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555751423	T>G	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555751482	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555751529	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555754450	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555754655	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1599082889	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1599181806	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030215	hsa-miR-26b-5p	Microarray	19088304
MIRT047318	hsa-miR-181a-5p	CLASH	23622248
MIRT1103237	hsa-miR-1225-5p	CLIP-seq
MIRT1103238	hsa-miR-1321	CLIP-seq
MIRT1103239	hsa-miR-148a	CLIP-seq
MIRT1103240	hsa-miR-148b	CLIP-seq
MIRT1103241	hsa-miR-152	CLIP-seq
MIRT1103242	hsa-miR-33a	CLIP-seq
MIRT1103243	hsa-miR-33b	CLIP-seq
MIRT1103244	hsa-miR-3689d	CLIP-seq
MIRT1103245	hsa-miR-4419a	CLIP-seq
MIRT1103246	hsa-miR-4510	CLIP-seq
MIRT1103247	hsa-miR-4739	CLIP-seq
MIRT1103248	hsa-miR-4756-5p	CLIP-seq
MIRT1103249	hsa-miR-555	CLIP-seq
MIRT2028224	hsa-miR-4775	CLIP-seq
MIRT2028225	hsa-miR-590-3p	CLIP-seq
MIRT2259382	hsa-miR-520f	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EP300	Repression	10713141
KLF4	Activation	11551969

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001738	Process	Morphogenesis of a polarized epithelium	IBA	21873635
GO:0005178	Function	Integrin binding	IBA	21873635
GO:0005198	Function	Structural molecule activity	NAS	8586427
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	RCA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005610	Component	Laminin-5 complex	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0007229	Process	Integrin-mediated signaling pathway	IBA	21873635
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0008544	Process	Epidermis development	TAS	8586427
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0009888	Process	Tissue development	IBA	21873635
GO:0016477	Process	Cell migration	IBA	21873635
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031581	Process	Hemidesmosome assembly	TAS
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27068509
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098609	Process	Cell-cell adhesion	IBA	21873635

Other IDs

• MIM: 600805
• HGNC: 6483
• e!Ensembl: ENSG00000053747

Protein

• UniProt ID: Q16787
• Protein name: Laminin subunit alpha-3 (Epiligrin 170 kDa subunit) (E170) (Epiligrin subunit alpha) (Kalinin subunit alpha) (Laminin-5 subunit alpha) (Laminin-6 subunit alpha) (Laminin-7 subunit alpha) (Nicein subunit alpha)
• Protein function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.; Lami
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00055	Laminin_N	47 → 297	Laminin N-terminal (Domain VI)	Family
  PF00053	Laminin_EGF	356 → 423	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	426 → 469	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	491 → 535	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	536 → 586	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	578 → 628	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	631 → 681	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	684 → 729	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1266 → 1314	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1356 → 1404	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1405 → 1453	Laminin EGF domain	Domain
  PF00052	Laminin_B	1517 → 1652	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	1650 → 1684	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1687 → 1731	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1734 → 1784	Laminin EGF domain	Domain
  PF06008	Laminin_I	1847 → 2105	Laminin Domain I	Coiled-coil
  PF06009	Laminin_II	2288 → 2416	Laminin Domain II	Coiled-coil
  PF00054	Laminin_G_1	2431 → 2573	Laminin G domain	Domain
  PF02210	Laminin_G_2	2626 → 2745	Laminin G domain	Domain
  PF02210	Laminin_G_2	2797 → 2903	Laminin G domain	Domain
  PF02210	Laminin_G_2	3016 → 3136	Laminin G domain	Domain
  PF02210	Laminin_G_2	3186 → 3311	Laminin G domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that migrates into a wound bed. A different
• Sequence:

  MAAAARPRGRALGPVLPPTPLLLLVLRVLPACGATARDPGAAAGLSLHPTYFNLAEAARI
  WATATCGERGPGEGRPQPELYCKLVGGPTAPGSGHTIQGQFCDYCNSEDPRKAHPVTNAI
  DGSERWWQSPPLSSGTQYNRVNLTLDLGQLFHVAYILIKFANSPRPDLWVLERSVDFGST
  YSPWQYFAHSKVDCLKEFGREANMAVTRDDDVLCVTEYSRIVPLENGEVVVSLINGRPGA
  KNFTFSHTLREFTKATNIRLRFLRTNTLLGHLISKAQRDPTVTRRYYYSIKDISIGGQCV
  CNGHAEVCNINNPEKLFRCECQHHTCGETCDRCCTGYNQRRWRPAAWEQSHECEACNCHG
  HASNCYYDPDVERQQASLNTQGIYAGGGVCINCQHNTAGVNCEQCAKGYYRPYGVPVDAP
  DGCIPCSCDPEHADGCEQGSGRCHCKPNFHGDNCEKCAIGYYNFPFCLRIPIFPVSTPSS
  EDPVAGDIKGCDCNLEGVLPEICDAHGRCLCRPGVEGPRCDTCRSGFYSFPICQACWCSA
  LGSYQMPCSSVTGQCECRPGVTGQRCDRCLSGAYDFPHCQGSSSACDPAGTINSNLGYCQ
  CKLHVEGPTCSRCKLLYWNLDKENPSGCSECKCHKAGTVSGTGECRQGDGDCHCKSHVGG
  DSCDTCEDGYFALEKSNYFGCQGCQCDIGGALSSMCSGPSGVCQCREHVVGKVCQRPENN
  YYFPDLHHMKYEIEDGSTPNGRDLRFGFDPLAFPEFSWRGYAQMTSVQNDVRITLNVGKS
  SGSLFRVILRYVNPGTEAVSGHITIYPSWGAAQSKEIIFLPSKEPAFVTVPGNGFADPFS
  ITPGIWVACIKAEGVLLDYLVLLPRDYYEASVLQLPVTEPCAYAGPPQENCLLYQHLPVT
  RFPCTLACEARHFLLDGEPRPVAVRQPTPAHPVMVDLSGREVELHLRLRIPQVGHYVVVV
  EYSTEAAQLFVVDVNVKSSGSVLAGQVNIYSCNYSVLCRSAVIDHMSRIAMYELLADADI
  QLKGHMARFLLHQVCIIPIEEFSAEYVRPQVHCIASYGRFVNQSATCVSLAHETPPTALI
  LDVLSGRPFPHLPQQSSPSVDVLPGVTLKAPQNQVTLRGRVPHLGRYVFVIHFYQAAHPT
  FPAQVSVDGGWPRAGSFHASFCPHVLGCRDQVIAEGQIEFDISEPEVAATVKVPEGKSLV
  LVRVLVVPAENYDYQILHKKSMDKSLEFITNCGKNSFYLDPQTASRFCKNSARSLVAFYH
  KGALPCECHPTGATGPHCSPEGGQCPCQPNVIGRQCTRCATGHYGFPRCKPCSCGRRLCE
  EMTGQCRCPPRTVRPQCEVCETHSFSFHPMAGCEGCNCSRRGTIEAAMPECDRDSGQCRC
  KPRITGRQCDRCASGFYRFPECVPCNCNRDGTEPGVCDPGTGACLCKENVEGTECNVCRE
  GSFHLDPANLKGCTSCFCFGVNNQCHSSHKRRTKFVDMLGWHLETADRVDIPVSFNPGSN
  SMVADLQELPATIHSASWVAPTSYLGDKVSSYGGYLTYQAKSFGLPGDMVLLEKKPDVQL
  TGQHMSIIYEETNTPRPDRLHHGRVHVVEGNFRHASSRAPVSREELMTVLSRLADVRIQG
  LYFTETQRLTLSEVGLEEASDTGSGRIALAVEICACPPAYAGDSCQGCSPGYYRDHKGLY
  TGRCVPCNCNGHSNQCQDGSGICVNCQHNTAGEHCERCQEGYYGNAVHGSCRACPCPHTN
  SFATGCVVNGGDVRCSCKAGYTGTQCERCAPGYFGNPQKFGGSCQPCSCNSNGQLGSCHP
  LTGDCINQEPKDSSPAEECDDCDSCVMTLLNDLATMGEQLRLVKSQLQGLSASAGLLEQM
  RHMETQAKDLRNQLLNYRSAISNHGSKIEGLERELTDLNQEFETLQEKAQVNSRKAQTLN
  NNVNRATQSAKELDVKIKNVIRNVHILLKQISGTDGEGNNVPSGDFSREWAEAQRMMREL
  RNRNFGKHLREAEADKRESQLLLNRIRTWQKTHQGENNGLANSIRDSLNEYEAKLSDLRA
  RLQEAAAQAKQANGLNQENERALGAIQRQVKEINSLQSDFTKYLTTADSSLLQTNIALQL
  MEKSQKEYEKLAASLNEARQELSDKVRELSRSAGKTSLVEEAEKHARSLQELAKQLEEIK
  RNASGDELVRCAVDAATAYENILNAIKAAEDAANRAASASESALQTVIKEDLPRKAKTLS
  SNSDKLLNEAKMTQKKLKQEVSPALNNLQQTLNIVTVQKEVIDTNLTTLRDGLHGIQRGD
  IDAMISSAKSMVRKANDITDEVLDGLNPIQTDVERIKDTYGRTQNEDFKKALTDADNSVN
  KLTNKLPDLWRKIESINQQLLPLGNISDNMDRIRELIQQARDAASKVAVPMRFNGKSGVE
  VRLPNDLEDLKGYTSLSLFLQRPNSRENGGTENMFVMYLGNKDASRDYIGMAVVDGQLTC
  VYNLGDREAELQVDQILTKSETKEAVMDRVKFQRIYQFARLNYTKGATSSKPETPGVYDM
  DGRNSNTLLNLDPENVVFYVGGYPPDFKLPSRLSFPPYKGCIELDDLNENVLSLYNFKKT
  FNLNTTEVEPCRRRKEESDKNYFEGTGYARVPTQPHAPIPTFGQTIQTTVDRGLLFFAEN
  GDRFISLNIEDGKLMVRYKLNSELPKERGVGDAINNGRDHSIQIKIGKLQKRMWINVDVQ
  NTIIDGEVFDFSTYYLGGIPIAIRERFNISTPAFRGCMKNLKKTSGVVRLNDTVGVTKKC
  SEDWKLVRSASFSRGGQLSFTDLGLPPTDHLQASFGFQTFQPSGILLDHQTWTRNLQVTL
  EDGYIELSTSDSGSPIFKSPQTYMDGLLHYVSVISDNSGLRLLIDDQLLRNSKRLKHISS
  SRQSLRLGGSNFEGCISNVFVQRLSLSPEVLDLTSNSLKRDVSLGGCSLNKPPFLMLLKG
  STRFNKTKTFRINQLLQDTPVASPRSVKVWQDACSPLPKTQANHGALQFGDIPTSHLLFK
  LPQELLKPRSQFAVDMQTTSSRGLVFHTGTKNSFMALYLSKGRLVFALGTDGKKLRIKSK
  EKCNDGKWHTVVFGHDGEKGRLVVDGLRAREGSLPGNSTISIRAPVYLGSPPSGKPKSLP
  TNSFVGCLKNFQLDSKPLYTPSSSFGVSSCLGGPLEKGIYFSEEGGHVVLAHSVLLGPEF
  KLVFSIRPRSLTGILIHIGSQPGKHLCVYLEAGKVTASMDSGAGGTSTSVTPKQSLCDGQ
  WHSVAVTIKQHILHLELDTDSSYTAGQIPFPPASTQEPLHLGGAPANLTTLRIPVWKSFF
  GCLRNIHVNHIPVPVTEALEVQGPVSLNGCPDQ

• Sequence length: 3333

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Degradation of the extracellular matrix
Assembly of collagen fibrils and other multimeric structures
Anchoring fibril formation
Laminin interactions
Type I hemidesmosome assembly
MET activates PTK2 signaling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amelogenesis imperfecta	Amelogenesis Imperfecta, Amelogenesis imperfecta local hypoplastic form	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	27827380
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	22959728
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
Cardiomyopathy	Cardiomyopathy, Dilated	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Epidermolysis bullosa	Epidermolysis Bullosa Progressiva, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)	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	12915477
Junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa, Adult junctional epidermolysis bullosa (disorder), Intermediate generalized junctional epidermolysis bullosa, Severe 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	8618022, 12915477, 8530087, 27827380
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	27827380, 7633458, 15373767, 16971478, 22434185, 12943669, 8530087, 11810295, 12915477, 27375110, 12813757, 25525159, 16473856, 8618022, 17362460, 9160387, 8983017
Laryngoonychocutaneous syndrome	Laryngoonychocutaneous syndrome, Laryngo-onycho-cutaneous syndrome	rs80356678	12915477, 27827380, 8618022, 23869449, 8530087
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
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
Myocardial infarction	Myocardial Infarction		21211798	ClinVar
Junctional Epidermolysis Bullosa	junctional epidermolysis bullosa Herlitz type, junctional epidermolysis bullosa, non-Herlitz type, generalized junctional epidermolysis bullosa non-Herlitz type			GenCC
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis			GWAS
Ovarian cancer	Ovarian cancer	Conditional KD of IL6 in the OCCA xenograft model delays tumor growth		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	11267939, 23301059, 26683690
Adenocarcinoma of Lung	Associate	37021520, 37322027, 39766765
Adenoma	Associate	23301059
Amelogenesis Imperfecta	Associate	31478359
Anodontia	Associate	28813618
Arthritis Rheumatoid	Associate	28767591
Blister	Associate	34796550, 8618020, 8618058
Bone Neoplasms	Associate	23199169
Calcinosis Cutis	Associate	23199169
Carcinogenesis	Associate	23301059
Carcinoma Hepatocellular	Associate	12079511
Carcinoma Non Small Cell Lung	Inhibit	11267939
Carcinoma Pancreatic Ductal	Associate	31182680
Carcinoma Squamous Cell	Inhibit	8370973
Cholangiocarcinoma	Associate	38114514
Chromosome Disorders	Associate	38459694
Creutzfeldt Jakob Syndrome	Associate	25149502
Dental Enamel Hypoplasia	Associate	27827380
Dermatitis Atopic	Associate	25363238
Epidermolysis Bullosa	Associate	33921969, 36578049, 38429928
Epidermolysis Bullosa Junctional	Associate	10469327, 11564184, 23958762, 25363238, 27827380, 29946029, 32222156, 35234826, 38157931, 8228337, 8618020, 8618022, 8618058, 9326326
Epidermolysis Bullosa Pruriginosa	Associate	36578049
Esophageal Neoplasms	Associate	40234833
Fuchs' Endothelial Dystrophy	Stimulate	28726551
Head and Neck Neoplasms	Associate	19936049
Hypoxia	Associate	19936049
Liver Neoplasms	Associate	12079511
Lung Neoplasms	Associate	26683690
Melanoma	Associate	22032772
Neoplasms	Associate	19936049, 24675808, 31182680, 32364250, 36311789, 40234833
Osteosarcoma	Associate	33308057
Ovarian Neoplasms	Associate	32878513, 33992120, 34289901, 34512203
Pancreatic Neoplasms	Associate	34134622, 34732125, 36311789, 37198621
Prion Diseases	Associate	25149502
Pulmonary Disease Chronic Obstructive	Associate	38429928
Squamous Cell Carcinoma of Head and Neck	Associate	24675808
Stomach Neoplasms	Associate	8780383
Urinary Bladder Neoplasms	Associate	37694778
Van der Woude syndrome	Associate	27827380