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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental disorder	Likely pathogenic	rs758070332	RCV003127325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic	rs2146037598, rs202119339, rs531247856, rs769916610, rs760778437	RCV001391133 RCV001391134 RCV001391135 RCV001391140 RCV001391137	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome, IIa 26	Pathogenic; Likely pathogenic	rs1168208619, rs369268267, rs2516671447, rs2515981247, rs2515979618, rs1979832889, rs2516055830	RCV002286453 RCV002286454 RCV002286455 RCV003153110 RCV003158011 RCV003158012 RCV003222594	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bent bone dysplasia syndrome 2	Likely benign; Uncertain significance	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLORECTAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital omphalocele	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
distinct bent bone dysplasia	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hematuria	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMA5-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macroscopic hematuria	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple sclerosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROSIS, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, TYPE 26	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Presynaptic congenital myasthenic syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe hydrocephalus	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	20972440, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	29764427		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	30808327	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24655501	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	16179086		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31553662		★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	33242826	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24002891		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23981902	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35241737	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33425212	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38114514	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	20972440, 30510241, 31089142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	20972440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22879968, 26968355, 27143691, 29119627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	20972440, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20972440, 22999960, 29119627, 29504916, 32170005, 33058866, 38581999	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	26018562	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	30044155	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31345182	Associate	★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29764427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galloway Mowat syndrome	Galloway-Mowat Syndrome	BEFREE	18594871		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30389143		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30389143		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17888902		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	38115247	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	29764427	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30809043	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	29534211, 29764427	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria Benign Familial	Hematuria	Pubtator	29764427	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	27208857		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32764209	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30777135		★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	LHGDN	17000025		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29764427		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	29764427	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	21327778, 22683419		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	29764427	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29764427	Associate	★☆☆☆☆ Found in Text Mining only
LAMA5-related multisystemic syndrome	Multisystemic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18635166		★☆☆☆☆ Found in Text Mining only
Malignant hyperthermia susceptibility type 1	Malignant hyperthermia	Pubtator	29764427	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24002891		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	20972440, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26968355, 28735299		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	20972440, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14691145		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29459023		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29459023	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	29377152		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	28544784		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27143691		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	35419533	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29534211		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	29534211		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	29534211, 35419533	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroblastoma	Neuroblastoma	Pubtator	32599975	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34512203	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	27208857		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	16870608		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	17412890		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15967115		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	29534211, 29764427, 35419533	Associate	★☆☆☆☆ Found in Text Mining only