LAMA5 (laminin subunit alpha 5)

Gene

• Entrez ID: 3911
• Gene name: Laminin subunit alpha 5
• Gene symbol: LAMA5
• Synonyms (NCBI Gene): BBDS2, NPHS26
• Chromosome: 20
• Chromosome location: 20q13.33
• Summary: This gene encodes one of the vertebrate laminin alpha chains. 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 inc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200093098	G>A	Likely-pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs370433088	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs756101090	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs773956500	T>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018825	hsa-miR-335-5p	Microarray	18185580
MIRT044619	hsa-miR-320a	CLASH	23622248
MIRT491184	hsa-miR-1205	PAR-CLIP	23592263
MIRT491182	hsa-miR-1827	PAR-CLIP	23592263
MIRT491181	hsa-miR-6132	PAR-CLIP	23592263
MIRT491180	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT491179	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT491178	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT491177	hsa-miR-2861	PAR-CLIP	23592263
MIRT491176	hsa-miR-4316	PAR-CLIP	23592263
MIRT491175	hsa-miR-1294	PAR-CLIP	23592263
MIRT491184	hsa-miR-1205	PAR-CLIP	23592263
MIRT491182	hsa-miR-1827	PAR-CLIP	23592263
MIRT491181	hsa-miR-6132	PAR-CLIP	23592263
MIRT491180	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT491179	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT491178	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT491177	hsa-miR-2861	PAR-CLIP	23592263
MIRT491176	hsa-miR-4316	PAR-CLIP	23592263
MIRT491175	hsa-miR-1294	PAR-CLIP	23592263
MIRT1103269	hsa-miR-3180	CLIP-seq
MIRT1103270	hsa-miR-3180-3p	CLIP-seq
MIRT1103271	hsa-miR-3196	CLIP-seq
MIRT1103272	hsa-miR-3197	CLIP-seq
MIRT1103273	hsa-miR-4457	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001738	Process	Morphogenesis of a polarized epithelium	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005178	Function	Integrin binding	IDA	11821406
GO:0005178	Function	Integrin binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 27068509, 27559042, 28675934
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	11821406
GO:0005610	Component	Laminin-5 complex	IEA
GO:0005615	Component	Extracellular space	IDA	10964500
GO:0005634	Component	Nucleus	HDA	21630459
GO:0007155	Process	Cell adhesion	IDA	15975931
GO:0007155	Process	Cell adhesion	IDA	15975931
GO:0007155	Process	Cell adhesion	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	11821406
GO:0007517	Process	Muscle organ development	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016477	Process	Cell migration	IDA	11821406
GO:0016477	Process	Cell migration	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030324	Process	Lung development	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27068509, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IDA	16236823
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0036484	Process	Trunk neural crest cell migration	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043259	Component	Laminin-10 complex	IDA	10964500
GO:0043259	Component	Laminin-10 complex	IEA
GO:0043259	Component	Laminin-10 complex	TAS	16236823
GO:0043260	Component	Laminin-11 complex	TAS	16236823
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0048018	Function	Receptor ligand activity	IDA	15975931
GO:0048705	Process	Skeletal system morphogenesis	IMP	33242826
GO:0048731	Process	System development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0098631	Function	Cell adhesion mediator activity	IDA	15975931
GO:0098965	Component	Extracellular matrix of synaptic cleft	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099173	Process	Postsynapse organization	IEA

Other IDs

• MIM: 601033
• HGNC: 6485
• e!Ensembl: ENSG00000130702

Protein

• UniProt ID: O15230
• Protein name: Laminin subunit alpha-5 (Laminin-10 subunit alpha) (Laminin-11 subunit alpha) (Laminin-15 subunit alpha)
• Protein function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Plays a role in
• PDB: 5XAU, 7CEC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00055	Laminin_N	45 → 298	Laminin N-terminal (Domain VI)	Family
  PF00053	Laminin_EGF	300 → 356	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	359 → 426	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	429 → 478	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	494 → 539	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	541 → 585	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	587 → 631	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	632 → 676	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	677 → 725	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	720 → 773	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	776 → 826	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	829 → 872	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1438 → 1486	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1528 → 1576	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1577 → 1625	Laminin EGF domain	Domain
  PF00052	Laminin_B	1693 → 1829	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	1825 → 1859	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1864 → 1910	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1913 → 1966	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1969 → 2020	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	2023 → 2067	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	2070 → 2119	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	2114 → 2153	Laminin EGF domain	Domain
  PF06008	Laminin_I	2192 → 2451	Laminin Domain I	Coiled-coil
  PF06009	Laminin_II	2632 → 2762	Laminin Domain II	Coiled-coil
  PF02210	Laminin_G_2	2777 → 2908	Laminin G domain	Domain
  PF02210	Laminin_G_2	2970 → 3099	Laminin G domain	Domain
  PF02210	Laminin_G_2	3370 → 3499	Laminin G domain	Domain
  PF02210	Laminin_G_2	3549 → 3673	Laminin G domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no expression in brain and liver. Expressed in muscle, ligaments, periosteum, trabecular bone and throughout the cartilage, particularly in the
• Sequence:

  MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAA
  SATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRGQYCDICTAANSNKAHPASNA
  IDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGR
  TYQPWQFFASSKRDCLERFGPQTLERITRDDAAICTTEYSRIVPLENGEIVVSLVNGRPG
  AMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRC
  VCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCN
  CYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHTTGVNCERCLPGFYRSPNHPL
  DSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSND
  TREQVLPAGQIVNCDCSAAGTQGNACRKDPRVGRCLCKPNFQGTHCELCAPGFYGPGCQP
  CQCSSPGVADDRCDPDTGQCRCRVGFEGATCDRCAPGYFHFPLCQLCGCSPAGTLPEGCD
  EAGRCLCQPEFAGPHCDRCRPGYHGFPNCQACTCDPRGALDQLCGAGGLCRCRPGYTGTA
  CQECSPGFHGFPSCVPCHCSAEGSLHAACDPRSGQCSCRPRVTGLRCDTCVPGAYNFPYC
  EAGSCHPAGLAPVDPALPEAQVPCMCRAHVEGPSCDRCKPGFWGLSPSNPEGCTRCSCDL
  RGTLGGVAECQPGTGQCFCKPHVCGQACASCKDGFFGLDQADYFGCRSCRCDIGGALGQS
  CEPRTGVCRCRPNTQGPTCSEPARDHYLPDLHHLRLELEEAATPEGHAVRFGFNPLEFEN
  FSWRGYAQMAPVQPRIVARLNLTSPDLFWLVFRYVNRGAMSVSGRVSVREEGRSATCANC
  TAQSQPVAFPPSTEPAFITVPQRGFGEPFVLNPGTWALRVEAEGVLLDYVVLLPSAYYEA
  ALLQLRVTEACTYRPSAQQSGDNCLLYTHLPLDGFPSAAGLEALCRQDNSLPRPCPTEQL
  SPSHPPLITCTGSDVDVQLQVAVPQPGRYALVVEYANEDARQEVGVAVHTPQRAPQQGLL
  SLHPCLYSTLCRGTARDTQDHLAVFHLDSEASVRLTAEQARFFLHGVTLVPIEEFSPEFV
  EPRVSCISSHGAFGPNSAACLPSRFPKPPQPIILRDCQVIPLPPGLPLTHAQDLTPAMSP
  AGPRPRPPTAVDPDAEPTLLREPQATVVFTTHVPTLGRYAFLLHGYQPAHPTFPVEVLIN
  AGRVWQGHANASFCPHGYGCRTLVVCEGQALLDVTHSELTVTVRVPKGRWLWLDYVLVVP
  ENVYSFGYLREEPLDKSYDFISHCAAQGYHISPSSSSLFCRNAAASLSLFYNNGARPCGC
  HEVGATGPTCEPFGGQCPCHAHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCIC
  PPRTIPPDCLLCQPQTFGCHPLVGCEECNCSGPGIQELTDPTCDTDSGQCKCRPNVTGRR
  CDTCSPGFHGYPRCRPCDCHEAGTAPGVCDPLTGQCYCKENVQGPKCDQCSLGTFSLDAA
  NPKGCTRCFCFGATERCRSSSYTRQEFVDMEGWVLLSTDRQVVPHERQPGTEMLRADLRH
  VPEAVPEAFPELYWQAPPSYLGDRVSSYGGTLRYELHSETQRGDVFVPMESRPDVVLQGN
  QMSITFLEPAYPTPGHVHRGQLQLVEGNFRHTETRNTVSREELMMVLASLEQLQIRALFS
  QISSAVFLRRVALEVASPAGQGALASNVELCLCPASYRGDSCQECAPGFYRDVKGLFLGR
  CVPCQCHGHSDRCLPGSGVCVDCQHNTEGAHCERCQAGFVSSRDDPSAPCVSCPCPLSVP
  SNNFAEGCVLRGGRTQCLCKPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNLL
  FSDCDPLTGACRGCLRHTTGPRCEICAPGFYGNALLPGNCTRCDCTPCGTEACDPHSGHC
  LCKAGVTGRRCDRCQEGHFGFDGCGGCRPCACGPAAEGSECHPQSGQCHCRPGTMGPQCR
  ECAPGYWGLPEQGCRRCQCPGGRCDPHTGRCNCPPGLSGERCDTCSQQHQVPVPGGPVGH
  SIHCEVCDHCVVLLLDDLERAGALLPAIHEQLRGINASSMAWARLHRLNASIADLQSQLR
  SPLGPRHETAQQLEVLEQQSTSLGQDARRLGGQAVGTRDQASQLLAGTEATLGHAKTLLA
  AIRAVDRTLSELMSQTGHLGLANASAPSGEQLLRTLAEVERLLWEMRARDLGAPQAAAEA
  ELAAAQRLLARVQEQLSSLWEENQALATQTRDRLAQHEAGLMDLREALNRAVDATREAQE
  LNSRNQERLEEALQRKQELSRDNATLQATLHAARDTLASVFRLLHSLDQAKEELERLAAS
  LDGARTPLLQRMQTFSPAGSKLRLVEAAEAHAQQLGQLALNLSSIILDVNQDRLTQRAIE
  ASNAYSRILQAVQAAEDAAGQALQQADHTWATVVRQGLVDRAQQLLANSTALEEAMLQEQ
  QRLGLVWAALQGARTQLRDVRAKKDQLEAHIQAAQAMLAMDTDETSKKIAHAKAVAAEAQ
  DTATRVQSQLQAMQENVERWQGQYEGLRGQDLGQAVLDAGHSVSTLEKTLPQLLAKLSIL
  ENRGVHNASLALSASIGRVRELIAQARGAASKVKVPMKFNGRSGVQLRTPRDLADLAAYT
  ALKFYLQGPEPEPGQGTEDRFVMYMGSRQATGDYMGVSLRDKKVHWVYQLGEAGPAVLSI
  DEDIGEQFAAVSLDRTLQFGHMSVTVERQMIQETKGDTVAPGAEGLLNLRPDDFVFYVGG
  YPSTFTPPPLLRFPGYRGCIEMDTLNEEVVSLYNFERTFQLDTAVDRPCARSKSTGDPWL
  TDGSYLDGTGFARISFDSQISTTKRFEQELRLVSYSGVLFFLKQQSQFLCLAVQEGSLVL
  LYDFGAGLKKAVPLQPPPPLTSASKAIQVFLLGGSRKRVLVRVERATVYSVEQDNDLELA
  DAYYLGGVPPDQLPPSLRRLFPTGGSVRGCVKGIKALGKYVDLKRLNTTGVSAGCTADLL
  VGRAMTFHGHGFLRLALSNVAPLTGNVYSGFGFHSAQDSALLYYRASPDGLCQVSLQQGR
  VSLQLLRTEVKTQAGFADGAPHYVAFYSNATGVWLYVDDQLQQMKPHRGPPPELQPQPEG
  PPRLLLGGLPESGTIYNFSGCISNVFVQRLLGPQRVFDLQQNLGSVNVSTGCAPALQAQT
  PGLGPRGLQATARKASRRSRQPARHPACMLPPHLRTTRDSYQFGGSLSSHLEFVGILARH
  RNWPSLSMHVLPRSSRGLLLFTARLRPGSPSLALFLSNGHFVAQMEGLGTRLRAQSRQRS
  RPGRWHKVSVRWEKNRILLVTDGARAWSQEGPHRQHQGAEHPQPHTLFVGGLPASSHSSK
  LPVTVGFSGCVKRLRLHGRPLGAPTRMAGVTPCILGPLEAGLFFPGSGGVITLDLPGATL
  PDVGLELEVRPLAVTGLIFHLGQARTPPYLQLQVTEKQVLLRADDGAGEFSTSVTRPSVL
  CDGQWHRLAVMKSGNVLRLEVDAQSNHTVGPLLAAAAGAPAPLYLGGLPEPMAVQPWPPA
  YCGCMRRLAVNRSPVAMTRSVEVHGAVGASGCPAA

• Sequence length: 3695

Pathways

KEGG:

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

Reactome:

Laminin interactions
Interleukin-4 and Interleukin-13 signaling
MET activates PTK2 signaling

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Developmental disorder	Likely pathogenic	rs758070332	RCV003127325
Nephrotic syndrome	Likely pathogenic	rs2146037598, rs202119339, rs531247856, rs769916610, rs760778437	RCV001391133 RCV001391134 RCV001391135 RCV001391140 RCV001391137
Nephrotic syndrome, IIa 26	Pathogenic; Likely pathogenic	rs1168208619, rs369268267, rs2516671447, rs2515981247, rs2515979618, rs1979832889, rs2516055830	RCV002286453 RCV002286454 RCV002286455 RCV003153110 RCV003158011 RCV003158012 RCV003222594

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs73144977, rs141208202	RCV005920196 RCV005927975
Adrenocortical carcinoma, hereditary	Benign	rs73144977, rs140181393, rs146292551	RCV005920198 RCV005927923 RCV005926395
Bent bone dysplasia syndrome 2	Likely benign; Uncertain significance	rs779995373, rs201815547, rs1019745323	RCV002292647 RCV002291252 RCV004586424
Cervical cancer	Benign; Likely benign; Uncertain significance	rs141208202, rs200349529, rs146292551, rs200976496, rs147290767, rs201314377	RCV005927978 RCV005932025 RCV005926396 RCV005930822 RCV005903390 RCV005907562
Cholangiocarcinoma	Benign; Likely benign	rs73144977, rs145721906	RCV005920203 RCV005928014
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	rs143341174, rs145721906, rs141208202, rs199776859, rs146292551	RCV005925585 RCV005928010 RCV005927979 RCV005930420 RCV005926397
Colon adenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs199977223, rs141208202, rs140181393, rs376938303, rs201314377	RCV005921108 RCV005927974 RCV005927921 RCV005926719 RCV005907560
Colorectal cancer	Benign	rs73144977, rs113604626	RCV005920200 RCV005920440
Congenital omphalocele	Uncertain significance	rs962267864	RCV001267708
distinct bent bone dysplasia	Uncertain significance; Likely benign	rs377244239, rs779995373	RCV001543395 RCV001543394
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2516030336	RCV004557771
Familial cancer of breast	Benign; Likely benign	rs944894, rs113604626, rs145721906, rs140621982, rs202247135	RCV005914834 RCV005920439 RCV005928008 RCV005926561 RCV005908463
Familial hematuria	Uncertain significance	rs756101090	RCV000494691
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	rs6062212, rs199776859, rs146292551, rs200103455, rs148811850	RCV005915623 RCV005930421 RCV005926398 RCV005926448 RCV005902858
Hepatocellular carcinoma	Benign	rs4925375, rs141208202, rs140181393	RCV005923460 RCV005927976 RCV005927922
High myopia	Uncertain significance	rs772704319	RCV000785728
Holoprosencephaly sequence	Conflicting classifications of pathogenicity; Uncertain significance	rs141989486, rs561540996	RCV001257379 RCV001257401
LAMA5-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs527608109, rs112822456, rs142481643, rs137986729, rs371183907, rs143941434, rs557760409, rs772889170, rs200996127, rs79319629, rs149415741, rs145721906, rs144665788, rs148336880, rs564205980, rs373759191, rs199737407, rs140461905, rs761156593, rs199977223, rs199690960, rs114359027, rs200959437, rs546335527, rs41296211, rs374836875, rs539739323, rs144009130, rs200632605, rs148683446, rs774812139, rs141060476, rs765715375, rs773565605, rs780626116, rs111950661, rs145862467, rs144740011, rs201815547, rs369596329, rs529100935, rs774183967, rs200479494, rs148841023, rs201130283, rs777193671, rs546040595, rs533642424, rs199801942, rs2274935, rs768417939, rs376871508, rs139559822, rs577468888, rs548845980, rs148379552, rs752546769, rs756209000, rs186551655, rs763726733, rs371365867, rs752949328, rs571817029, rs745401346, rs757320347, rs375974849, rs41310831, rs141261581, rs374550353, rs112470442, rs143066016, rs140927746, rs560237038, rs200998631, rs149570905, rs146516865, rs374561766, rs748553410, rs770787001, rs140072002, rs186054581, rs146292551, rs192231400, rs138423331, rs79658450, rs116765059, rs140621982, rs370913287, rs143175635, rs149413796, rs369318027, rs566747140, rs117065914, rs147007704, rs142723423, rs41284992, rs368660251, rs374794377, rs183227892, rs141366753, rs767350618, rs142712051, rs113371619, rs150162199, rs141049099, rs149541806, rs150944918, rs139478345, rs150861125, rs561264851, rs144409622, rs143386487, rs761801983, rs150648433, rs761635261, rs533441062, rs750252621, rs750776342, rs759017891, rs138468519, rs147301014, rs139412622, rs775647554, rs541928558, rs758358407, rs373397574, rs771847671, rs201517990, rs371451247, rs748494907, rs1464486337, rs776882133, rs769538635, rs374679404, rs1257878172, rs375718055, rs779985791, rs753806998, rs770317338, rs1265988454, rs749238842, rs201613863, rs765464944, rs2516056673, rs770399366, rs538749758, rs541141300, rs144900016, rs770270506, rs368917854, rs201811048, rs200712230, rs201926183, rs752924820, rs369784534, rs77850827, rs202180524, rs2516648969, rs532710301, rs138561117, rs377517650, rs201429053, rs111275179, rs779668173, rs769341323, rs7262393, rs151262272, rs748303970, rs372810461, rs765412212, rs760930386, rs377471638, rs377390907, rs370333867, rs753722149, rs147108312, rs147586069, rs760797947, rs1355086744, rs1331760943, rs6089732, rs1369739502, rs189204052, rs146887751, rs1194912391, rs372824109, rs749149554, rs755981207, rs775728976, rs1183950648, rs764229559, rs895876738, rs368144472, rs778709010, rs984440507, rs150534204, rs906537507, rs1411518411, rs184580896, rs767931382, rs746133684, rs770618065, rs749894337, rs373360000, rs556545870, rs2516653788, rs572366378, rs765972836, rs202112441, rs547534421, rs1986825098, rs2516643854, rs181124267, rs1448866468, rs760449227, rs749065410, rs201803861, rs373377022, rs747969339, rs369268267, rs1437391905, rs565768327, rs149891319, rs1048665385, rs1293968948, rs771983141, rs750862034, rs201685485, rs1488876019, rs151050051, rs762534791, rs781691598, rs768456092, rs544501244, rs766399151, rs146293440, rs200322088, rs376930247, rs148492275, rs574153553, rs756101090, rs111653839, rs200093098, rs529211517, rs115306720, rs149357675, rs150998056, rs147290767, rs151096227, rs200330582, rs200907939, rs186119136, rs138708242, rs41296219, rs146174815, rs148907937, rs199615528, rs367854786, rs148177752, rs116309482, rs147701856, rs75464861, rs141797832, rs138705828, rs141347564, rs201943878, rs144109924, rs201066079, rs151180846, rs142055388, rs45496002, rs143580785, rs368939161, rs150860855, rs114717889, rs566795195, rs140336045, rs144791669, rs143469163, rs141871645, rs145978926, rs138521932, rs139992490, rs140067060, rs148515817, rs138514452, rs148389677, rs149358620, rs376314006, rs202167421, rs146304356, rs201249114, rs181980340, rs142876888, rs150372885, rs758018323, rs202247135, rs138694611, rs1266350933, rs138002973	RCV004746365 RCV003911024 RCV004746569 RCV003951245 RCV003950915 RCV003978523 RCV003933482 RCV003950978 RCV003903337 RCV003978691 RCV003970915 RCV003933468 RCV003923495 RCV003933365 RCV003933534 RCV003916322 RCV003903559 RCV003958602 RCV003970972 RCV003933322 RCV003951193 RCV003926293 RCV003951036 RCV003933620 RCV003913769 RCV003958483 RCV003913719 RCV003958744 RCV003916295 RCV003913547 RCV003923509 RCV003970933 RCV003958712 RCV004747029 RCV003951102 RCV003978871 RCV003923432 RCV003916388 RCV004747072 RCV003953833 RCV003906463 RCV003953844 RCV003963577 RCV003898745 RCV003926688 RCV003420323 RCV004747203 RCV003943755 RCV003963654 RCV003916754 RCV003906497 RCV003963658 RCV003963663 RCV003963672 RCV003963680 RCV003906562 RCV003946420 RCV003971317 RCV003971333 RCV003961084 RCV004747118 RCV003403898 RCV003936308 RCV003961130 RCV004747127 RCV003963361 RCV003903796 RCV003936333 RCV003906296 RCV003936358 RCV003926485 RCV003926486 RCV003898578 RCV003961171 RCV003395541 RCV003963458 RCV003936382 RCV003963433 RCV004747149 RCV003961211 RCV003943608 RCV003926510 RCV003906320 RCV003418653 RCV003906371 RCV003906372 RCV003906373 RCV003943630 RCV003916681 RCV003943620 RCV003961259 RCV003961279 RCV003906393 RCV003926599 RCV003916685 RCV003926570 RCV003961257 RCV003916653 RCV003961281 RCV003409994 RCV003898644 RCV003418676 RCV003926607 RCV003926608 RCV003906396 RCV003906397 RCV003906398 RCV003906403 RCV003410014 RCV003906429 RCV003963535 RCV003943676 RCV004747170 RCV004747253 RCV004747256 RCV004747254 RCV004747255 RCV003396875 RCV003410244 RCV003900982 RCV003410298 RCV003920030 RCV004747289 RCV003406201 RCV003416871 RCV003408711 RCV003419179 RCV003419224 RCV003393088 RCV003393096 RCV003414533 RCV003399587 RCV003391277 RCV003399913 RCV003400002 RCV003402773 RCV003394353 RCV003410781 RCV003414467 RCV003414469 RCV003416991 RCV003392873 RCV003427901 RCV003402709 RCV003393244 RCV003394307 RCV003402986 RCV003966393 RCV003966394 RCV003908932 RCV004747293 RCV003966395 RCV003901105 RCV003939084 RCV003946689 RCV003946692 RCV003939102 RCV003909024 RCV004747325 RCV003909069 RCV003948928 RCV003966577 RCV003939162 RCV003939155 RCV003948949 RCV003956527 RCV003966643 RCV003896524 RCV003896919 RCV003896976 RCV003897031 RCV003892288 RCV003894685 RCV003907049 RCV003907091 RCV003921596 RCV003921605 RCV003921739 RCV003924039 RCV003974718 RCV003893743 RCV003896398 RCV003894041 RCV003894046 RCV003894189 RCV003894374 RCV003894425 RCV003904277 RCV003906922 RCV003904386 RCV003904486 RCV003984728 RCV003901780 RCV003901796 RCV003899785 RCV003899795 RCV003911948 RCV003973835 RCV003982258 RCV003899329 RCV003899435 RCV003899531 RCV003913833 RCV003904766 RCV003934023 RCV003941925 RCV003943923 RCV003952198 RCV003959532 RCV003914629 RCV003927235 RCV003929492 RCV003924547 RCV003951613 RCV003949757 RCV003924387 RCV003947080 RCV003947086 RCV003954699 RCV003954757 RCV003944768 RCV003934163 RCV003934205 RCV003946853 RCV003946942 RCV003954385 RCV003979038 RCV003981968 RCV003983534 RCV003983622 RCV003947318 RCV003971727 RCV003971767 RCV003971814 RCV003969520 RCV003954863 RCV003969685 RCV003968967 RCV003969224 RCV003962201 RCV003962204 RCV004747417 RCV003419836 RCV003915402 RCV004745576 RCV003413669 RCV003926076 RCV003933290 RCV003926029 RCV003978285 RCV003905808 RCV003962861 RCV003936045 RCV003962862 RCV003916142 RCV003926148 RCV003962880 RCV003918545 RCV003936019 RCV003962863 RCV003916109 RCV003905929 RCV003960815 RCV003935942 RCV003905930 RCV003930721 RCV003955785 RCV003895413 RCV003920609 RCV003910450 RCV003955806 RCV003922834 RCV003920499 RCV003940374 RCV003920680 RCV003958042 RCV003910800 RCV003950492 RCV003902828 RCV003923049 RCV003922858 RCV003968324 RCV003950543 RCV003912844 RCV003932840 RCV003968177 RCV003912986 RCV003910837 RCV003912916 RCV003958365 RCV003950830 RCV003902910 RCV003902889 RCV003958366 RCV003913096 RCV003902927 RCV003903082 RCV003970558 RCV003905967 RCV003936230 RCV004746234 RCV003983835
Lung cancer	Benign; Likely benign; Uncertain significance	rs6062212, rs145721906, rs140181393, rs775980705, rs370074478, rs370433088, rs147290767, rs138657380, rs148811850, rs202247135	RCV005915624 RCV005928015 RCV005927927 RCV005930496 RCV005928893 RCV005897271 RCV005903392 RCV005902793 RCV005902860 RCV005908467
Macroscopic hematuria	Uncertain significance	rs756544765	RCV001823015
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs143341174, rs145721906, rs199776859, rs138627467, rs146292551, rs376938303, rs368044468, rs78985447, rs138657380, rs148811850, rs201314377	RCV005925584 RCV005928009 RCV005930419 RCV005928723 RCV005926394 RCV005926720 RCV005934743 RCV005904995 RCV005902792 RCV005902856 RCV005907561
Multiple sclerosis	Uncertain significance	rs200449284	RCV005052847
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs73144977, rs141208202, rs775980705	RCV005920197 RCV005927977 RCV005930495
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs145721906, rs140181393, rs199776859, rs138627467, rs146292551, rs1437645929, rs148811850, rs202247135	RCV005928012 RCV005927924 RCV005930422 RCV005928725 RCV005926399 RCV005934973 RCV005902859 RCV005908464
Pancreatic adenocarcinoma	Uncertain significance	rs759316733	RCV005928463
Polymicrogyria	Conflicting classifications of pathogenicity	rs139502000, rs111653839	RCV000656107 RCV000656108
Presynaptic congenital myasthenic syndrome	Uncertain significance	rs370966549, rs549102085, rs201012962	RCV001823694 RCV001823695 RCV001291038
Prostate cancer	Uncertain significance	rs193920947	RCV000149172
Sarcoma	Benign; Likely benign; Uncertain significance	rs145721906, rs141208202, rs138627467, rs370074478, rs771207317, rs78985447, rs148811850	RCV005928011 RCV005927981 RCV005928724 RCV005928892 RCV005934978 RCV005904996 RCV005902857
Severe hydrocephalus	Conflicting classifications of pathogenicity; Uncertain significance	rs141989486, rs561540996	RCV001257379 RCV001257401
Short stature	Uncertain significance; Likely benign	rs772483268, rs200093098, rs370433088, rs368328748, rs773956500, rs766464011, rs559408041	RCV000736125 RCV000736131 RCV000736128 RCV000736130 RCV000736126 RCV000736129 RCV000736127
Thymoma	Benign; Likely benign	rs73144977, rs141208202, rs140181393, rs199776859, rs200349529, rs146292551, rs201314377, rs202247135	RCV005920202 RCV005927982 RCV005927925 RCV005930423 RCV005932026 RCV005926400 RCV005907563 RCV005908466
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	rs145721906, rs140181393, rs199776859, rs146292551, rs748015432, rs147290767	RCV005928013 RCV005927926 RCV005930424 RCV005926401 RCV005937541 RCV005903391
Uterine carcinosarcoma	Benign; Likely benign	rs73144977, rs202247135	RCV005920201 RCV005908465
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign	rs73144977, rs141208202, rs200976496, rs78985447, rs202247135	RCV005920204 RCV005927983 RCV005930823 RCV005904997 RCV005908468
Uveal melanoma	Benign	rs73144977, rs141208202	RCV005920199 RCV005927980

Associations from Text Mining
Disease Name	Relationship Type	References
Adenomatous Polyposis Coli	Associate	32170005
Andersen Syndrome	Associate	30808327
Anemia Sickle Cell	Associate	24655501
Bone Diseases Developmental	Associate	33242826
Breast Neoplasms	Associate	23981902
Carcinoma Pancreatic Ductal	Stimulate	35241737
Carcinoma Renal Cell	Associate	33425212
Cholangiocarcinoma	Stimulate	38114514
Colorectal Neoplasms	Associate	20972440, 22999960, 29119627, 29504916, 32170005, 33058866, 38581999
Cysts	Associate	29764427
Dupuytren Contracture	Stimulate	26018562
Endometriosis	Associate	30044155
Esophageal Squamous Cell Carcinoma	Associate	31345182
Glomerulonephritis Membranous	Associate	38115247
Glomerulosclerosis Focal Segmental	Associate	29764427
Growth Disorders	Associate	30809043
Hematuria	Associate	29534211, 29764427
Hematuria Benign Familial	Associate	29764427
Inflammatory Bowel Diseases	Associate	32764209
Kidney Diseases	Associate	29764427
Kidney Failure Chronic	Associate	29764427
Kidney Neoplasms	Associate	29764427
Malignant hyperthermia susceptibility type 1	Associate	29764427
Multiple Myeloma	Associate	29459023
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	33242826
Neoplasms	Associate	35241737
Nephritis Hereditary	Associate	29764427, 30808327
Nephrosis congenital	Associate	35419533
Nephrotic Syndrome	Associate	29534211, 35419533
Neuroblastoma	Associate	32599975
Ovarian Neoplasms	Associate	34512203
Plaque Atherosclerotic	Inhibit	36996622
Proteinuria	Associate	29534211, 29764427, 35419533
Rectal Neoplasms	Associate	29119627