Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3918
Gene name	Laminin subunit gamma 2
Gene symbol	LAMC2
Synonyms (NCBI Gene)	B2TBM600CSFEBR2EBR2AJEB3AJEB3BLAMB2TLAMNB2
Chromosome	1
Chromosome location	1q25.3
Summary	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

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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

113

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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 assayqRT-PCRWestern blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assayqRT-PCRWestern blot	24091622
MIRT438307	hsa-miR-146a-5p	In situ hybridizationWeastern blotLuciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridizationWeastern blotLuciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridizationWeastern blotLuciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridizationWeastern blotLuciferase 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

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Transcription factor	Regulation	Reference
ZEB1	Unknown	20729552

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28675934
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
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:0008201	Function	Heparin binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	24091622
GO:0008544	Process	Epidermis development	TAS	8012394
GO:0030335	Process	Positive regulation of cell migration	IMP	24091622
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

MIM	HGNC	e!Ensembl
150292	6493	ENSG00000058085

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

Tissue specificity

TISSUE SPECIFICITY: The large variant is expressed only in specific epithelial cells of embryonic and neonatal tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney, but not in epithelia except for

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

446

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skin	Likely pathogenic; Pathogenic	rs1660173338	RCV001814460
Epidermolysis bullosa, junctional 3A, intermediate	Likely pathogenic; Pathogenic	rs1659836821, rs1183519794, rs769983361, rs772306395, rs753268823, rs2526088692, rs118203899, rs118203901, rs1558088792, rs2526147354, rs1057516806, rs1057517353, rs759509443, rs778012079, rs1553267554 View all (3 more)	RCV005005868 RCV005005230 RCV005005904 RCV005005951 RCV005008088 RCV005012997 RCV005007854 RCV002051626 RCV002051627 RCV002051628 RCV005900633 RCV005010296 RCV005010289 RCV005010295 RCV005010668 RCV005010649 RCV005010732 RCV003148920
Epidermolysis bullosa, junctional 3B, severe	Likely pathogenic; Pathogenic	rs1659836821, rs1183519794, rs769983361, rs2102196403, rs772306395, rs1660173338, rs2102231460, rs753268823, rs2526088692, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs2526147658 View all (9 more)	RCV005005868 RCV005005230 RCV005005904 RCV003987858 RCV005005951 RCV004577551 RCV002248477 RCV005008088 RCV005012997 RCV002051621 RCV002051622 RCV002051623 RCV002051624 RCV002051625 RCV003990474 RCV004576144 RCV005900633 RCV005010296 RCV005010289 RCV005010295 RCV004820844 RCV005010668 RCV005010649 RCV005010732
Junctional epidermolysis bullosa	Pathogenic; Likely pathogenic	rs779546941, rs1659229440, rs1659834817, rs1659836821, rs1660171997, rs772306395, rs1660058817, rs118203901, rs778012079, rs201307156, rs1553266871, rs1558092158, rs781458974, rs774734592	RCV001352883 RCV001352884 RCV001352885 RCV001352886 RCV001352727 RCV001532909 RCV003120728 RCV000778201 RCV002222499 RCV005055948 RCV001280655 RCV000780372 RCV005418956 RCV001352887
Junctional epidermolysis bullosa gravis of Herlitz	Pathogenic; Likely pathogenic	rs149930148, rs2102228390, rs2526043438, rs756321686, rs2526113458, rs2526082649, rs2526127239, rs2526037706, rs2526082204, rs1462711090, rs2526044331, rs2526118497, rs2526065086, rs2102245114, rs2526043721 View all (78 more)	RCV001329430 RCV002250088 RCV002306472 RCV002306491 RCV002306559 RCV002306578 RCV002306704 RCV002306769 RCV002309877 RCV002309999 RCV002308137 RCV002308251 RCV002308300 RCV002309052 RCV002309345 RCV002309447 RCV002306987 RCV002307045 RCV002307047 RCV002307096 RCV002307194 RCV002310080 RCV002310152 RCV002310163 RCV002310179 RCV002310306 RCV002310388 RCV002310587 RCV002308407 RCV002308438 RCV000169121 RCV003340867 RCV003388963 RCV000015655 RCV000015656 RCV000015657 RCV000412415 RCV000412328 RCV000409895 RCV000411347 RCV000410904 RCV000410004 RCV000410149 RCV000412046 RCV000409946 RCV000409444 RCV000411834 RCV000411591 RCV000410724 RCV000412295 RCV000410161 RCV000410843 RCV000411025 RCV000409389 RCV000409003 RCV000411632 RCV000671372 RCV000671089 RCV000673186 RCV000668939 RCV000673036 RCV000667616 RCV000667945 RCV000672479 RCV000665081 RCV000666628 RCV000675023 RCV000664915 RCV000667177 RCV000670414 RCV000667628 RCV000674713 RCV000667824 RCV000670422 RCV000664978 RCV000665428 RCV000669715 RCV000669182 RCV000673617 RCV000668123 RCV000761249 RCV000411449 RCV001264234 RCV001264235 RCV001264236 RCV001264237 RCV001264238 RCV001263663 RCV001263664 RCV001263665 RCV001263666 RCV001263667 RCV001263668 RCV001263669 RCV001263670
Junctional epidermolysis bullosa, non-Herlitz type	Pathogenic; Likely pathogenic	rs2102258267, rs2102228301, rs200783718, rs201307156, rs1217053724	RCV001806359 RCV001808211 RCV002250942 RCV001731663 RCV000761249
LAMC2-related disorder	Pathogenic; Likely pathogenic	rs761475328, rs771613805, rs1057517353	RCV004753302 RCV003897828 RCV003392226

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amelogenesis imperfecta type 1	Conflicting classifications of pathogenicity	rs142335339	RCV003153552
Cholangiocarcinoma	Benign	rs875794	RCV005916643
Malignant tumor of esophagus	Uncertain significance	rs375623003	RCV005891541
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs756432879	RCV005903167
Uterine carcinosarcoma	Benign	rs875794	RCV005916642

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anodontia	Associate	15373767
Biliary Atresia	Associate	40366121
Biliary Fistula	Associate	15105812
Blister	Associate	11564184, 8618020
Carcinogenesis	Associate	18559558
Carcinogenesis	Inhibit	35699794
Carcinoma Hepatocellular	Associate	28418226, 32280695
Carcinoma Pancreatic Ductal	Associate	11920553, 31182680, 31731384, 32005189, 33607476, 33624791, 34007003, 35180880, 35699794
Carcinoma Pancreatic Ductal	Stimulate	23798558
Carcinoma Squamous Cell	Associate	22546478, 24205356
Cholangiocarcinoma	Associate	15105812
Cholangiocarcinoma	Stimulate	38114514
Cholesteatoma	Associate	23285167
Colonic Neoplasms	Associate	12519076
Colorectal Neoplasms	Associate	28653882, 38446659
Death	Associate	18559558
Dental Caries	Associate	29859070
Dental Plaque	Stimulate	39201392
Dyskinesias	Associate	22546478
Endometrial Neoplasms	Associate	16681770, 24070183
Endometriosis	Associate	24070183
Epidermal Cyst	Stimulate	24205356
Epidermolysis Bullosa Junctional	Associate	10469327, 10951251, 11564184, 15373767, 23958762, 25363238, 27827380, 29946029, 32222156, 7861013, 8618020, 8618058, 9085255, 9326326
Epidermolysis Bullosa Junctional Non Herlitz Type	Associate	11564184
Esophageal Neoplasms	Associate	40234833
Esophageal Squamous Cell Carcinoma	Associate	18559558, 31048097
Fibrosis	Associate	17075843
Glioblastoma	Associate	20488869
Head and Neck Neoplasms	Associate	30642292
Hepatitis Alcoholic	Associate	40649881
Hepatitis C	Associate	15133472
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35893033
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	35327656
Lung Neoplasms	Associate	37542131
Lymphatic Metastasis	Associate	23026198
Lymphatic Metastasis	Stimulate	28653882
Mouth Diseases	Associate	18559558, 32461624
Mouth Neoplasms	Associate	19228736, 33880581
Nasopharyngeal Carcinoma	Associate	12746479
Neoplasm Metastasis	Associate	11920553, 23958557, 26678934, 36709879
Neoplasm Metastasis	Inhibit	35699794
Neoplasms	Associate	11223548, 11920553, 15105812, 15133472, 16790082, 20307265, 24091622, 28418226, 28653882, 31182680, 31659097, 34512203, 34606473, 34612783, 35327656, 36311789, 37542131, 40234833, 7778688 View all (4 more)
Neoplasms	Stimulate	33624791
Neoplasms	Inhibit	35699794
Neoplasms Squamous Cell	Associate	35327656
Ovarian Neoplasms	Associate	32626953, 32878513, 34512203
Pancreatic Neoplasms	Associate	23798558, 28611293, 32005189, 33624791, 34007003, 34606473, 36311789, 38267509
Papillary Thyroid Microcarcinoma	Associate	34856364
Pemphigoid Bullous	Associate	36430582
Personality Disorders	Associate	30285776
Polycystic Ovary Syndrome	Inhibit	35551681
Prostatic Neoplasms	Associate	20729552
Retinal Dysplasia	Inhibit	25358065
Squamous Cell Carcinoma of Head and Neck	Associate	18254958, 18669583, 19228736, 23026198, 26214683, 30226546, 30431092, 30642292, 31562292, 32597160, 33420101, 35506252
Squamous Cell Carcinoma of Head and Neck	Stimulate	32860673, 34612783
Stomach Neoplasms	Associate	28252644
Triple Negative Breast Neoplasms	Associate	36709879
Uniparental Disomy	Associate	10951251
Urethral Neoplasms	Associate	26450632
Urinary Bladder Neoplasms	Associate	26800519
Vasculitis Leukocytoclastic Cutaneous	Stimulate	32461624

LAMC2 (laminin subunit gamma 2)