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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3908
Gene name Gene Name - the full gene name approved by the HGNC.	Laminin subunit alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LAMA2
Synonyms (NCBI Gene) Gene synonyms aliases	LAMM, MDC1A
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q22.33
Summary Summary of gene provided in NCBI Entrez Gene.	Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix compon

Show/Hide all(238)

SNP ID	Visualize variation	Clinical significance	Consequence
rs9492297	G>A,C	Pathogenic	Splice acceptor variant
rs41285286	T>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs56035053	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs56173620	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs56209257	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs62421010	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs78880369	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs112637707	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs117422805	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121913569	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs121913570	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913572	C>G,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs121913573	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913574	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs121913575	C>T	Pathogenic	Stop gained, coding sequence variant
rs121913576	C>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs121913577	C>A	Pathogenic	Stop gained, coding sequence variant
rs137962409	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs139586720	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs140483001	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141101234	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141340479	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs141363186	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs142083777	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs142126511	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs142671449	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs143343647	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs144845618	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145420388	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs145465528	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs147077184	C>T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147744763	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148060790	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs149753273	T>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150596964	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs150644209	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150730793	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs150945378	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs151009169	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs186538779	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs191899712	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs200030296	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant
rs200288072	G>A	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs200364660	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs200469923	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs200669208	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs200923373	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs200953311	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201632009	G>A,C,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs202247790	AG>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs202247791	->ACGTGTTC	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs202247792	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs368379507	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs369558532	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs369596190	A>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs369776766	C>T	Pathogenic	Coding sequence variant, stop gained
rs372715292	A>G,T	Likely-pathogenic	Splice acceptor variant
rs374403765	T>C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs375638381	C>T	Pathogenic	Coding sequence variant, stop gained
rs376014152	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs376088608	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs376430565	G>C	Likely-pathogenic	Splice donor variant
rs398123367	G>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs398123368	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs398123369	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398123371	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs398123372	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123373	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs398123375	G>A	Pathogenic	Splice donor variant
rs398123377	CTCATCT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123378	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123379	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123380	T>-	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123382	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs398123383	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123385	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123387	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs535635043	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, stop gained
rs553221833	G>A	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs567385461	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs573779258	C>A,T	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, synonymous variant, coding sequence variant
rs727502851	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs727503992	AGGGCATTGTTTTTCAACATCCA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs730880252	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs746201268	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs746641607	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs746678525	AAGT>-,AAGTAAGT	Pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, splice donor variant
rs746762473	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs746844753	CTTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs747349942	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs747567057	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs748541803	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs749522728	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs750220830	TTCTCTACATATAATCCTCAAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs750731624	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs753886576	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs756854513	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs757404275	TA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs757435241	G>A,C,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs758775001	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs758887080	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs759516529	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs759555791	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs762806915	C>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs764839142	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs766920075	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs767784355	G>-	Likely-pathogenic	Splice acceptor variant
rs768458445	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs770084568	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs770617208	G>T	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs770895341	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs771046502	G>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs773209126	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs774051471	->TGCA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs775112258	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs775676341	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs776548207	G>-	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs778539477	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs780368037	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs781376927	G>A	Pathogenic	Splice donor variant
rs786204779	A>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs786205654	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs794727396	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794727594	G>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs797044643	->ATGTTCAC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs797044728	->AGTGCCTAACG	Pathogenic	Stop gained, coding sequence variant, inframe indel, genic upstream transcript variant
rs863224891	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886039482	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039541	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041297	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042847	->GAAGACT	Pathogenic	Stop gained, coding sequence variant
rs886043374	TA>-	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs886043630	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886043648	A>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886043692	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886044330	T>G	Pathogenic	Stop gained, coding sequence variant
rs886044344	CAATTGTCATG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886061039	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs945091158	G>C	Likely-pathogenic	Splice donor variant
rs993196576	A>G	Likely-pathogenic	Splice acceptor variant
rs1018100729	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1028599119	C>G	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1055407857	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057518119	G>A	Likely-pathogenic	Splice donor variant
rs1057524616	G>T	Likely-pathogenic	Intron variant
rs1064794941	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1064795451	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797040	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1064797327	G>A,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1064797328	ACTG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1131691660	G>C,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs1180309541	C>T	Pathogenic	Coding sequence variant, stop gained
rs1185229314	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1205783002	TA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1209130981	AT>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1211739649	A>-,AAAAA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1221715098	G>A	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant
rs1246940477	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1248727589	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1262029350	G>C,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1278823424	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1289855948	G>T	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1293303410	C>-	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1296761337	G>A,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1303773212	C>T	Likely-pathogenic, not-provided	Coding sequence variant, genic upstream transcript variant, stop gained, upstream transcript variant
rs1326401124	T>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1338860420	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1360796756	C>G,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs1374568851	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, stop gained
rs1392196900	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1404492484	G>A	Likely-pathogenic	Splice donor variant
rs1415944134	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1433071073	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1441933780	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1480934961	->AAGA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554217476	AATTCAATGTTATTGTTGTTGTTATACTTCCCTAGG>-	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1554217494	CTAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATG>-	Pathogenic	Genic upstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1554226186	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554226188	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554227092	->CT	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554230429	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554230455	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554234051	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554234161	G>A,T	Pathogenic, uncertain-significance	Splice donor variant, genic upstream transcript variant
rs1554234163	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554238384	AA>-	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554256965	G>A	Likely-pathogenic	Splice donor variant
rs1554260284	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554268940	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554269855	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554269891	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554269966	T>C,G	Pathogenic	Splice donor variant
rs1554278541	A>T	Likely-pathogenic	Splice acceptor variant
rs1554285766	C>-	Pathogenic	Intron variant
rs1554286963	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554290311	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554290316	T>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554295204	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554297242	->G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554297727	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1554299897	G>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1554301637	TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1554301854	AATAGAG>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1554301883	->GA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554303937	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs1554304931	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554305006	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554305937	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554310169	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554310242	TCCAG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554312639	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554312687	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1562200866	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1562273395	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1562275792	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1562281922	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1562449164	A>C	Likely-pathogenic	Splice acceptor variant
rs1562451730	T>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1562497781	T>GGCC	Pathogenic	Splice donor variant
rs1562512707	A>G	Likely-pathogenic	Splice acceptor variant
rs1562530132	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562614305	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1583149141	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1583169151	G>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1583169165	A>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1583219849	AAGCCCTGCCGCACAGCTACTACTGGAGCGCGCCGGCTCCC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1583345113	TACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583421520	C>T	Pathogenic	Coding sequence variant, stop gained
rs1583447808	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1583469739	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1583470073	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583475938	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583591577	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs1583756552	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1583790201	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1583813573	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1583815667	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583845651	->T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all(40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT1103231	hsa-miR-1236	CLIP-seq
MIRT1103232	hsa-miR-1343	CLIP-seq
MIRT1103233	hsa-miR-2052	CLIP-seq
MIRT1103234	hsa-miR-3170	CLIP-seq
MIRT1103235	hsa-miR-514	CLIP-seq
MIRT1103236	hsa-miR-514b-3p	CLIP-seq
MIRT2430505	hsa-miR-186	CLIP-seq
MIRT2430506	hsa-miR-29a	CLIP-seq
MIRT2430507	hsa-miR-29b	CLIP-seq
MIRT2430508	hsa-miR-29c	CLIP-seq
MIRT2430509	hsa-miR-4427	CLIP-seq
MIRT2430510	hsa-miR-4680-3p	CLIP-seq
MIRT2430511	hsa-miR-767-5p	CLIP-seq
MIRT1103231	hsa-miR-1236	CLIP-seq
MIRT1103232	hsa-miR-1343	CLIP-seq
MIRT1103234	hsa-miR-3170	CLIP-seq

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005198	Function	Structural molecule activity	TAS	2185464
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509, 27559042, 28675934
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	2099832, 14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	1678389
GO:0005604	Component	Basement membrane	TAS	2185464
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007517	Process	Muscle organ development	TAS	7550355
GO:0014037	Process	Schwann cell differentiation	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 27559042, 28675934
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032224	Process	Positive regulation of synaptic transmission, cholinergic	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042383	Component	Sarcolemma	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045785	Process	Positive regulation of cell adhesion	NAS	3794389
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	NAS	26555376
GO:0098637	Component	Protein complex involved in cell-matrix adhesion	NAS	3109910
GO:0110011	Process	Regulation of basement membrane organization	NAS	2119632
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	NAS	23948589

MIM	HGNC	e!Ensembl
156225	6482	ENSG00000196569

Protein

UniProt ID

P24043

Protein name

Laminin subunit alpha-2 (Laminin M chain) (Laminin-12 subunit alpha) (Laminin-2 subunit alpha) (Laminin-4 subunit alpha) (Merosin heavy chain)

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.

PDB

4YEP , 4YEQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00055	Laminin_N	39 → 285	Laminin N-terminal (Domain VI)	Family
PF00053	Laminin_EGF	287 → 341	Laminin EGF domain	Domain
PF00053	Laminin_EGF	344 → 411	Laminin EGF domain	Domain
PF00053	Laminin_EGF	414 → 468	Laminin EGF domain	Domain
PF00053	Laminin_EGF	469 → 515	Laminin EGF domain	Domain
PF00052	Laminin_B	583 → 722	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	719 → 749	Laminin EGF domain	Domain
PF00053	Laminin_EGF	757 → 804	Laminin EGF domain	Domain
PF00053	Laminin_EGF	807 → 862	Laminin EGF domain	Domain
PF00053	Laminin_EGF	865 → 915	Laminin EGF domain	Domain
PF00053	Laminin_EGF	918 → 964	Laminin EGF domain	Domain
PF00053	Laminin_EGF	967 → 1011	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1014 → 1057	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1060 → 1108	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1106 → 1163	Laminin EGF domain	Domain
PF00052	Laminin_B	1234 → 1378	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	1376 → 1408	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1420 → 1466	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1469 → 1524	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1527 → 1578	Laminin EGF domain	Domain
PF06008	Laminin_I	1593 → 1853	Laminin Domain I	Coiled-coil
PF06009	Laminin_II	2037 → 2173	Laminin Domain II	Coiled-coil
PF00054	Laminin_G_1	2174 → 2314	Laminin G domain	Domain
PF00054	Laminin_G_1	2368 → 2507	Laminin G domain	Domain
PF00054	Laminin_G_1	2554 → 2695	Laminin G domain	Domain
PF00054	Laminin_G_1	2793 → 2921	Laminin G domain	Domain
PF02210	Laminin_G_2	2968 → 3096	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Placenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung, spleen, kidney, adrenal gland, skin, testis, meninges, choroid plexus, and some other regions of the brain; not in liver, thymus and bone.

Sequence

MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGE
KGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPITNAIDGKNTWWQSPSIKNGIE
YHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGEIHISLINGRPSADDPSPELLEFTSARY
IRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGGMCICYGHARACPLDP
ATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKAEECYYDENVA
RRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRPKGVSPNYPRPCQPCHCDPIG
SLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNED
PCFGPCICKENVEGGDCSRCKSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDM
SGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGG
QLTFTISYDLEEEEEDTERVLQLMIILEGNDLSISTAQDEVYLHPSEEHTNVLLLKEESF
TIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRLSSVNLESAVSYPTDGSIAAA
VEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVTGECLNCKDHT
GGPYCDKCLPGFYGEPTKGTSEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYT
GPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCEL
CADGYFGDAVDAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQS
ARGCVPCNCNSFGSKSFDCEESGQCWCQPGVTGKKCDRCAHGYFNFQEGGCTACECSHLG
NNCDPKTGRCICPPNTIGEKCSKCAPNTWGHSITTGCKACNCSTVGSLDFQCNVNTGQCN
CHPKFSGAKCTECSRGHWNYPRCNLCDCFLPGTDATTCDSETKKCSCSDQTGQCTCKVNV
EGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDE
ALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFE
AREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLTRHEIEMTEKEWKYYGDDPRV
HRTVTREDFLDILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKC
DCPLGYSGLSCEACLPGFYRLRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQ
HHTAGDFCERCALGYYGIVKGLPNDCQQCACPLISSSNNFSPSCVAEGLDDYRCTACPRG
YEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGC
KHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTGPLPAPYKMLYGLENMTQELK
HLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGE
FIKELARDAEAVNEKAIKLNETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIA
EDELVAAEALLKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREA
NRLFAVNQKNMTALEKKKEAVESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQ
TKLPPMSEELNDKIDDLSQEIKDRKLAEKVSQAESHAAQLNDSSAVLDGILDEAKNISFN
ATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNE
AKKLANDVKENEDHLNGLKTRIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDK
ARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNKIIADADATVK
NLEQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKP
EIKKGSYNNIVVNVKTAVADNLLFYLGSAKFIDFLAIEMRKGKVSFLWDVGSGVGRVEYP
DLTIDDSYWYRIVASRTGRNGTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLF
VGGLTGKLKKADAVRVITFTGCMGETYFDNKPIGLWNFREKEGDCKGCTVSPQVEDSEGT
IQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYLATRDLRDFMSVELTDGHIKV
SYDLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIATSSSGNNFGL
DLKADDKIYFGGLPTLRNLSMKARPEVNLKKYSGCLKDIEISRTPYNILSSPDYVGVTKG
CSLENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQ
TGQAYYAILLNRGRLEVHLSTGARTMRKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVD
ENRRYMQNLTVEQPIEVKKLFVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMDFARPV
SFKNADIGRCAHQKLREDEDGAAPAEIVIQPEPVPTPAFPTPTPVLTHGPCAAESEPALL
IGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESGLLFYMARINHADFATVQLRN
GLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRTISPKKADILD
VVGMLYVGGLPINYTTRRIGPVTYSIDGCVRNLHMAEAPADLEQPTSSFHVGTCFANAQR
GTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDEKLMFH
VDNGAGRFTAVYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPASTSADT
NDPVFVGGFPDDLKQFGLTTSIPFRGCIRSLKLTKGTGKPLEVNFAKALELRGVQPVSCP
AN

Sequence length

3122

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Cytoskeleton in muscle cells Toxoplasmosis Amoebiasis Human papillomavirus infection Pathways in cancer Small cell lung cancer Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Viral myocarditis		Laminin interactions MET activates PTK2 signaling

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital muscular dystrophy	Congenital muscular dystrophy due to partial LAMA2 deficiency, Congenital Muscular Dystrophy, LAMA2-related	rs914395925, rs1554269966, rs1583149141, rs121913572, rs121913575, rs121913576, rs1296761337, rs1246940477, rs776548207, rs1415944134	N/A
Limb-Girdle Muscular Dystrophy	muscular dystrophy, limb-girdle, autosomal recessive 23	rs1562273395, rs1583845651, rs1185229314, rs202247791, rs1554269966, rs1562497781, rs1562200866, rs1583591577, rs202247790, rs121913572, rs778539477, rs1392196900, rs770617208, rs1064797040, rs191912891 View all (6 more)	N/A
merosin deficient congenital muscular dystrophy	Merosin deficient congenital muscular dystrophy	rs1562449164, rs1562275792, rs993196576, rs1209130981, rs886039541, rs1185229314, rs398123377, rs1554320318, rs372715292, rs768458445, rs121913569, rs1554234163, rs1554304931, rs786205654, rs202247791 View all (120 more)	N/A
congenital muscular dystrophy	Congenital muscular dystrophy	rs1562530132	N/A
hypotonia	Hypotonia	rs1583169151	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma (childhood onset)	N/A	N/A	GWAS
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Hyperopia	Hyperopia	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Metabolic Syndrome	Serum bilirubin levels x Mediterranean diet adherence interaction in metabolic syndrome	N/A	N/A	GWAS
Muscular dystrophy	congenital merosin-deficient muscular dystrophy 1A, muscular dystrophy	N/A	N/A	GenCC, ClinVar
Myopia	Myopia	N/A	N/A	GWAS
Polymicrogyria	polymicrogyria	N/A	N/A	ClinVar
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35238419
Allanson Pantzar McLeod syndrome	Associate	29376585
Arrhythmogenic Right Ventricular Dysplasia	Associate	36535090
Brain Diseases	Associate	37182895
Brain Neoplasms	Inhibit	33878734
Breast Neoplasms	Associate	26432421, 30305115, 32526247, 33500458
Carcinoma Hepatocellular	Associate	25159915, 33878734
Carcinoma Neuroendocrine	Associate	16507913
Cardiomyopathy Dilated	Associate	32904964, 35728000
Central Nervous System Vascular Malformations	Associate	37182895
Charcot Marie Tooth Disease	Associate	25648254
Chronic Periodontitis	Associate	24347629
Colonic Neoplasms	Associate	36518255
Craniometaphyseal Dysplasia Autosomal Dominant	Associate	32904964, 33882917, 37318662, 38296890, 9585610
Death	Associate	27390862
Depressive Disorder Major	Associate	37511534
Diabetes Mellitus	Stimulate	33995275
Down Syndrome	Associate	36833411
Dysplastic Nevus Syndrome	Associate	10576667
Ependymoma	Associate	23280793, 27550150
Epilepsy	Associate	32904964, 37182895
Genetic Diseases Inborn	Inhibit	10677302
Glaucoma	Associate	36833422
Glaucoma Angle Closure	Associate	36833422
Glioblastoma	Associate	23280793
Glomerulosclerosis Focal Segmental	Associate	34565340
Heart Diseases	Associate	24534542
Hemangioblastoma	Associate	28742274
Heredodegenerative Disorders Nervous System	Associate	34103343
Immunoglobulin G4 Related Disease	Associate	36373293, 37182895
Immunologic Deficiency Syndromes	Associate	11592034
Inflammatory Breast Neoplasms	Associate	30086764
Infratentorial Neoplasms	Associate	27550150
Intellectual Disability	Associate	37182895
Kidney Diseases	Associate	36408280
Leprosy	Associate	12100448
Leprosy Tuberculoid	Associate	12100448
Leukodystrophy Metachromatic	Associate	29376585
Leukoencephalopathies	Associate	29225264, 29376585
Limb girdle muscular dystrophy autosomal recessive	Associate	34281576
Lymphoma	Associate	34166375
Malformations of Cortical Development	Associate	32570172, 37182895
Medullary Sponge Kidney	Associate	27914711, 28087010
Meningeal Carcinomatosis	Associate	10576667
Migraine Disorders	Associate	32904964
Multiple Sclerosis	Associate	35868801
Muscle Hypotonia	Associate	27353517
Muscle Weakness	Associate	32904964, 37182895
Muscular Dystrophies	Associate	11592034, 25307854, 25962468, 28087121, 29225264, 29376585, 31309178, 32213190, 32904964, 32936536, 33882917, 34281576, 34384384, 35731920, 36334577 View all (6 more)
Muscular Dystrophies	Inhibit	35868801
Muscular Dystrophies Limb Girdle	Associate	27708273, 32904964, 34281576, 37688281
Muscular Dystrophy Congenital 1B	Associate	11592034
Muscular Dystrophy Congenital due to Partial LAMA2 Deficiency	Associate	34281576, 34384384, 34509921, 36334577, 39941024
Muscular dystrophy congenital merosin negative	Associate	11592034, 18516331, 28182637, 29225264, 29707938, 31309178, 32904964, 33882917, 34528292, 36334577, 36833411, 9541105, 9585610
Muscular dystrophy congenital with central nervous system involvement	Associate	29376585, 37182895
Muscular Dystrophy Duchenne	Associate	9610800
Muscular dystrophy limb girdle type 1A	Associate	24534542, 28367954, 32936536
Muscular Dystrophy Limb Girdle Type 2I	Inhibit	30003095
Myopia	Associate	26984843, 27611182, 31069276, 36395078
Myotonic Dystrophy	Associate	34509921
Neoplasm Metastasis	Associate	16507913
Neoplasms	Associate	16507913, 23280793, 25159915, 32526247, 34512203
Neoplasms	Inhibit	26432421
Neuromuscular Diseases	Associate	21896784, 25648254, 32154989
Ovarian Neoplasms	Associate	34512203
Pathological Conditions Anatomical	Associate	36833411
Periodontitis	Associate	35179257
Peripheral Nervous System Diseases	Associate	12100448
Pituitary Neoplasms	Associate	36686480
Pneumonia	Associate	34281576
Refractive Errors	Associate	32227305, 35220419
Retinal Dystrophies	Associate	37182895
Rhabdomyosarcoma Alveolar	Associate	37296184
Schizophrenia	Associate	37511534
Seizures	Associate	34281576
Sjogren's Syndrome	Associate	15593200
Small Cell Lung Carcinoma	Associate	16507913
Thrombosis	Inhibit	33878734
Urinary Bladder Neoplasms	Associate	36357874, 37872487
Walker Warburg Syndrome	Associate	11592034

LAMA2 (laminin subunit alpha 2)