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LAMC2 (laminin subunit gamma 2)

Gene

3918

Laminin subunit gamma 2

LAMC2

B2T, BM600, CSF, EBR2, EBR2A, JEB3A, JEB3B, LAMB2T, LAMNB2

1q25.3

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, n

Show/Hide all(63)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356683	C>T	Pathogenic	Coding sequence variant, stop gained
rs118203899	C>G,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs118203900	C>A	Pathogenic	Stop gained, coding sequence variant
rs118203901	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs141812464	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146325169	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147889360	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149195906	G>A	Likely-pathogenic	Splice acceptor variant
rs151190720	C>G,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs201307156	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs745512079	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs753268823	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs757617349	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs759509443	G>A	Likely-pathogenic	Splice donor variant
rs771613805	A>G	Likely-pathogenic	Splice acceptor variant
rs774080932	G>A,C	Likely-pathogenic	Splice acceptor variant
rs776142807	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs778012079	TTTCAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886045625	A>G	Uncertain-significance, likely-pathogenic	Initiator codon variant, missense variant
rs1043996591	G>T	Likely-pathogenic	Splice donor variant
rs1057516218	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516383	CTGC>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs1057516410	G>C	Likely-pathogenic	Splice donor variant
rs1057516444	->AA	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516473	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516487	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516569	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516727	CA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516806	GACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516935	TC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517159	->G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517353	->ATGGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1217053724	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1479808203	G>C,T	Likely-pathogenic	Initiator codon variant, missense variant
rs1553262199	T>C	Pathogenic	Initiator codon variant, missense variant
rs1553264644	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553265770	A>C	Likely-pathogenic	Splice acceptor variant
rs1553265794	T>A	Likely-pathogenic	Splice donor variant
rs1553265902	A>G	Likely-pathogenic	Splice acceptor variant
rs1553266052	G>A	Likely-pathogenic	Splice donor variant
rs1553266260	A>T	Likely-pathogenic	Splice acceptor variant
rs1553266433	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553266537	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1553266671	T>C,G	Likely-pathogenic	Splice donor variant
rs1553266871	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553267007	G>A	Likely-pathogenic	Splice donor variant
rs1553267060	T>G	Likely-pathogenic	Splice donor variant
rs1553267345	->TAGCCCGG	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs1553267356	G>C	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1553267499	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553267554	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553267638	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553267679	CA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553267870	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553267882	GAAGCTTTCCCGAGCCAAGA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553267885	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1558088792	G>A	Pathogenic	Splice acceptor variant
rs1558092158	G>T	Likely-pathogenic	Splice donor variant
rs1558092501	G>A	Pathogenic	Splice acceptor variant
rs1558095794	CAGAACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571530029	TCCCTGTCATA>AACCGC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1571535301	C>T	Pathogenic	Coding sequence variant, stop gained
rs1571538391	AGCCCGGACGGTGCTGTGGT>G	Likely-pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant

Show/Hide all(113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002944	hsa-miR-199b-5p	Luciferase reporter assay	15131085
MIRT019261	hsa-miR-148b-3p	Microarray	17612493
MIRT025668	hsa-miR-7-5p	Microarray	19073608
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT732502	hsa-miR-5580-3p	Microarray	32597160
MIRT1103407	hsa-miR-1193	CLIP-seq
MIRT1103408	hsa-miR-1224-3p	CLIP-seq
MIRT1103409	hsa-miR-1226	CLIP-seq
MIRT1103410	hsa-miR-1260	CLIP-seq
MIRT1103411	hsa-miR-1260b	CLIP-seq
MIRT1103412	hsa-miR-128	CLIP-seq
MIRT1103413	hsa-miR-1280	CLIP-seq
MIRT1103414	hsa-miR-134	CLIP-seq
MIRT1103415	hsa-miR-1827	CLIP-seq
MIRT1103416	hsa-miR-192	CLIP-seq
MIRT1103417	hsa-miR-193a-3p	CLIP-seq
MIRT1103418	hsa-miR-193b	CLIP-seq
MIRT1103419	hsa-miR-215	CLIP-seq
MIRT1103420	hsa-miR-2467-3p	CLIP-seq
MIRT1103421	hsa-miR-29a	CLIP-seq
MIRT1103422	hsa-miR-29b	CLIP-seq
MIRT1103423	hsa-miR-29c	CLIP-seq
MIRT1103424	hsa-miR-3065-3p	CLIP-seq
MIRT1103425	hsa-miR-3118	CLIP-seq
MIRT1103426	hsa-miR-3134	CLIP-seq
MIRT1103427	hsa-miR-3164	CLIP-seq
MIRT1103428	hsa-miR-3202	CLIP-seq
MIRT1103429	hsa-miR-331-3p	CLIP-seq
MIRT1103430	hsa-miR-338-5p	CLIP-seq
MIRT1103431	hsa-miR-3661	CLIP-seq
MIRT1103432	hsa-miR-3678-3p	CLIP-seq
MIRT1103433	hsa-miR-3688-3p	CLIP-seq
MIRT1103434	hsa-miR-3714	CLIP-seq
MIRT1103435	hsa-miR-3978	CLIP-seq
MIRT1103436	hsa-miR-4302	CLIP-seq
MIRT1103437	hsa-miR-4327	CLIP-seq
MIRT1103438	hsa-miR-4426	CLIP-seq
MIRT1103439	hsa-miR-4517	CLIP-seq
MIRT1103440	hsa-miR-451b	CLIP-seq
MIRT1103441	hsa-miR-4533	CLIP-seq
MIRT1103442	hsa-miR-4647	CLIP-seq
MIRT1103443	hsa-miR-4662b	CLIP-seq
MIRT1103444	hsa-miR-4701-5p	CLIP-seq
MIRT1103445	hsa-miR-4708-3p	CLIP-seq
MIRT1103446	hsa-miR-539	CLIP-seq
MIRT1103447	hsa-miR-545	CLIP-seq
MIRT1103448	hsa-miR-548b-3p	CLIP-seq
MIRT1103449	hsa-miR-580	CLIP-seq
MIRT1103450	hsa-miR-588	CLIP-seq
MIRT1103451	hsa-miR-631	CLIP-seq
MIRT1103452	hsa-miR-660	CLIP-seq
MIRT1103453	hsa-miR-767-5p	CLIP-seq
MIRT1103454	hsa-miR-892b	CLIP-seq
MIRT1103455	hsa-miR-129-5p	CLIP-seq
MIRT1103456	hsa-miR-3194-3p	CLIP-seq
MIRT1103457	hsa-miR-3672	CLIP-seq
MIRT1103458	hsa-miR-431	CLIP-seq
MIRT1103459	hsa-miR-4438	CLIP-seq
MIRT1103460	hsa-miR-5095	CLIP-seq
MIRT1103461	hsa-miR-640	CLIP-seq
MIRT2028260	hsa-miR-1228	CLIP-seq
MIRT2028261	hsa-miR-1229	CLIP-seq
MIRT2028262	hsa-miR-1825	CLIP-seq
MIRT2028263	hsa-miR-3130-5p	CLIP-seq
MIRT2028264	hsa-miR-342-3p	CLIP-seq
MIRT2028265	hsa-miR-4482	CLIP-seq
MIRT2028266	hsa-miR-4686	CLIP-seq
MIRT2028267	hsa-miR-4772-5p	CLIP-seq
MIRT2028268	hsa-miR-888	CLIP-seq
MIRT2259398	hsa-miR-1208	CLIP-seq
MIRT2259399	hsa-miR-1281	CLIP-seq
MIRT2259400	hsa-miR-1343	CLIP-seq
MIRT2259401	hsa-miR-185	CLIP-seq
MIRT2259402	hsa-miR-2278	CLIP-seq
MIRT2259403	hsa-miR-2355-5p	CLIP-seq
MIRT2259404	hsa-miR-24	CLIP-seq
MIRT2259405	hsa-miR-3135b	CLIP-seq
MIRT2259406	hsa-miR-3150a-5p	CLIP-seq
MIRT2259407	hsa-miR-3150b-5p	CLIP-seq
MIRT2259408	hsa-miR-3652	CLIP-seq
MIRT2259409	hsa-miR-4284	CLIP-seq
MIRT2259410	hsa-miR-4306	CLIP-seq
MIRT2259411	hsa-miR-4430	CLIP-seq
MIRT2259412	hsa-miR-4519	CLIP-seq
MIRT2259413	hsa-miR-4644	CLIP-seq
MIRT2259414	hsa-miR-498	CLIP-seq
MIRT2028268	hsa-miR-888	CLIP-seq
MIRT2559748	hsa-miR-4267	CLIP-seq
MIRT2559749	hsa-miR-4735-5p	CLIP-seq
MIRT2559750	hsa-miR-4775	CLIP-seq
MIRT2559751	hsa-miR-590-3p	CLIP-seq
MIRT2683738	hsa-miR-1256	CLIP-seq
MIRT2683739	hsa-miR-3688-5p	CLIP-seq
MIRT2683740	hsa-miR-4652-3p	CLIP-seq
MIRT2683741	hsa-miR-4659a-5p	CLIP-seq
MIRT2683742	hsa-miR-4659b-5p	CLIP-seq
MIRT2683743	hsa-miR-4776-3p	CLIP-seq
MIRT2683744	hsa-miR-579	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
ZEB1	Unknown	20729552

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28675934
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005607	Component	Laminin-2 complex	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008045	Process	Motor neuron axon guidance	IBA	21873635
GO:0008201	Function	Heparin binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	24091622
GO:0008544	Process	Epidermis development	TAS	8012394
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0009888	Process	Tissue development	IBA	21873635
GO:0016020	Component	Membrane	IEA
GO:0016358	Process	Dendrite development	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030335	Process	Positive regulation of cell migration	IMP	24091622
GO:0031581	Process	Hemidesmosome assembly	TAS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28675934

MIM	HGNC	e!Ensembl
150292	6493	ENSG00000058085

Protein

UniProt ID

Q13753

Protein name

Laminin subunit gamma-2 (Cell-scattering factor 140 kDa subunit) (CSF 140 kDa subunit) (Epiligrin subunit gamma) (Kalinin subunit gamma) (Kalinin/nicein/epiligrin 100 kDa subunit) (Ladsin 140 kDa subunit) (Laminin B2t chain) (Laminin-5 subunit gamma) (Lar

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. Ladsin exerts c

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00053	Laminin_EGF	28 → 81	Laminin EGF domain	Domain
PF00053	Laminin_EGF	84 → 130	Laminin EGF domain	Domain
PF00053	Laminin_EGF	139 → 184	Laminin EGF domain	Domain
PF00052	Laminin_B	250 → 380	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	376 → 413	Laminin EGF domain	Domain
PF00053	Laminin_EGF	462 → 514	Laminin EGF domain	Domain
PF00053	Laminin_EGF	517 → 570	Laminin EGF domain	Domain
PF00053	Laminin_EGF	573 → 617	Laminin EGF domain	Domain

Sequence

MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNT
DGIHCEKCKNGFYRHRERDRCLPCNCNSKGSLSARCDNSGRCSCKPGVTGARCDRCLPGF
HMLTDAGCTQDQRLLDSKCDCDPAGIAGPCDAGRCVCKPAVTGERCDRCRSGYYNLDGGN
PEGCTQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNGSPAKLQWSQRHQDVF
SSAQRLDPVYFVAPAKFLGNQQVSYGQSLSFDYRVDRGGRHPSAHDVILEGAGLRITAPL
MPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYI
DNVTLISARPVSGAPAPWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQG
GGACDPDTGDCYSGDENPDIECADCPIGFYNDPHDPRSCKPCPCHNGFSCSVMPETEEVV
CNNCPPGVTGARCELCADGYFGDPFGEHGPVRPCQPCQCNNNVDPSASGNCDRLTGRCLK
CIHNTAGIYCDQCKAGYFGDPLAPNPADKCRACNCNPMGSEPVGCRSDGTCVCKPGFGGP
NCEHGAFSCPACYNQVKIQMDQFMQQLQRMEALISKAQGGDGVVPDTELEGRMQQAEQAL
QDILRDAQISEGASRSLGLQLAKVRSQENSYQSRLDDLKMTVERVRALGSQYQNRVRDTH
RLITQMQLSLAESEASLGNTNIPASDHYVGPNGFKSLAQEATRLAESHVESASNMEQLTR
ETEDYSKQALSLVRKALHEGVGSGSGSPDGAVVQGLVEKLEKTKSLAQQLTREATQAEIE
ADRSYQHSLRLLDSVSRLQGVSDQSFQVEEAKRIKQKADSLSSLVTRHMDEFKRTQKNLG
NWKEEAQQLLQNGKSGREKSDQLLSRANLAKSRAQEALSMGNATFYEVESILKNLREFDL
QVDNRKAEAEEAMKRLSYISQKVSDASDKTQQAERALGSAAADAQRAKNGAGEALEISSE
IEQEIGSLNLEANVTADGALAMEKGLASLKSEMREVEGELERKELEFDTNMDAVQMVITE
AQKVDTRAKNAGVTIQDTLNTLDGLLHLMDQPLSVDEEGLVLLEQKLSRAKTQINSQLRP
MMSELEERARQQRGHLHLLETSIDGILADVKNLENIRDNLPPGCYNTQALEQQ

Sequence length

1193

Interactions

View interactions

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

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
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	26956061
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, rs397514444, 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	24550734
Epidermolysis bullosa dystrophica inversa	Epidermolysis bullosa inversa dystrophica	rs121912847, rs121912854, rs387906604, rs121912856, rs143457874, rs760891216, rs757415879, rs1057517723, rs760063197, rs775288140, rs201728948, rs768128088, rs757688782, rs1131691385, rs200972872, rs767182886, rs773263825, rs761234904, rs772756089
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	8012394, 16473856, 26956061, 27696112, 24550734, 16473856, 8012394
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	11564184, 17916201, 11810295, 9085255, 16473856, 26956061, 11231327, 7849725, 27696112, 15373767, 8012394, 8983017
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	30381462
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

Show/Hide Unknown Diseases (22)

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Ankyloglossia	Ankyloglossia
Congenital localized absence of skin	Congenital localized absence of skin
Dental enamel hypoplasia	Dental Enamel Hypoplasia
Esophageal stricture	Esophageal Stricture
Hypodontia	Hypodontia
Junctional epidermolysis bullosa inversa	Junctional epidermolysis bullosa inversa
Junctional split	Junctional split
Laryngospasm	Laryngospasm
Laryngostenosis	Laryngostenosis
Liver cirrhosis	Liver Cirrhosis		26396155
Liver fibrosis	Fibrosis, Liver		26396155
Lupus erythematosus	Lupus Erythematosus, Systemic		21408207
Microstomia	Microstomia
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Nail dystrophy	Dystrophia unguium
Onycholysis	Onycholysis
Paronychia inflammation	Paronychia Inflammation
Respiratory failure	Respiratory Failure
Skin carcinoma	Squamous cell carcinoma of skin
Skin erosion	Skin Erosion

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