LAMB2 (laminin subunit beta 2)

Gene

• Entrez ID: 3913
• Gene name: Laminin subunit beta 2
• Gene symbol: LAMB2
• Synonyms (NCBI Gene): LAMS, NPHS5, PIERS
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, n

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912488	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912489	G>C	Pathogenic	Stop gained, coding sequence variant
rs121912490	A>T	Pathogenic	Stop gained, coding sequence variant
rs121912491	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912492	A>G	Pathogenic	Missense variant, coding sequence variant
rs142402808	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144133177	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144765752	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs267607207	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267607208	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906644	T>C	Pathogenic	Missense variant, coding sequence variant
rs730880125	G>A	Pathogenic	Stop gained, coding sequence variant
rs745926869	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs746230397	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs779317615	C>G,T	Likely-pathogenic	Splice donor variant
rs786205643	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs888830612	C>A,T	Likely-pathogenic	Splice donor variant
rs1131690793	C>G	Pathogenic	Splice acceptor variant
rs1131690794	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1330915067	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1374167547	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1560072794	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560075787	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042683	hsa-miR-196b-5p	CLASH	23622248
MIRT042388	hsa-miR-484	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005198	Function	Structural molecule activity	NAS	7698745
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 27068509, 27559042, 28675934
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	2099832, 10964500, 14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	1678389
GO:0005604	Component	Basement membrane	TAS	7698745
GO:0005608	Component	Laminin-3 complex	IEA
GO:0005608	Component	Laminin-3 complex	IPI	10964500
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031175	Process	Neuron projection development	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043256	Component	Laminin complex	IEA
GO:0043260	Component	Laminin-11 complex	TAS	16236823
GO:0045202	Component	Synapse	IEA
GO:0045785	Process	Positive regulation of cell adhesion	NAS	3794389
GO:0048677	Process	Axon extension involved in regeneration	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	NAS	26555376
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0072249	Process	Metanephric podocyte development	IEA
GO:0072274	Process	Metanephric glomerular basement membrane development	IEA
GO:0098637	Component	Protein complex involved in cell-matrix adhesion	NAS	3109910
GO:0110011	Process	Regulation of basement membrane organization	NAS	2119632
GO:0150043	Function	Structural constituent of synapse-associated extracellular matrix	IEA
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	NAS	23948589

Other IDs

• MIM: 150325
• HGNC: 6487
• e!Ensembl: ENSG00000172037

Protein

• UniProt ID: P55268
• Protein name: Laminin subunit beta-2 (Laminin B1s chain) (Laminin-11 subunit beta) (Laminin-14 subunit beta) (Laminin-15 subunit beta) (Laminin-3 subunit beta) (Laminin-4 subunit beta) (Laminin-7 subunit beta) (Laminin-9 subunit beta) (S-laminin subunit beta) (S-LAM be
• 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00055	Laminin_N	47 → 281	Laminin N-terminal (Domain VI)	Family
  PF00053	Laminin_EGF	283 → 344	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	347 → 407	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	410 → 467	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	470 → 519	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	522 → 565	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	783 → 828	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	831 → 876	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	877 → 924	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	927 → 983	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	986 → 1035	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1038 → 1092	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1095 → 1141	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1143 → 1193	Laminin EGF domain	Domain

• Sequence:

  MELTSRERGRGQPLPWELRLGLLLSVLAATLAQAPAPDVPGCSRGSCYPATGDLLVGRAD
  RLTASSTCGLNGPQPYCIVSHLQDEKKCFLCDSRRPFSARDNPHSHRIQNVVTSFAPQRR
  AAWWQSENGIPAVTIQLDLEAEFHFTHLIMTFKTFRPAAMLVERSADFGRTWHVYRYFSY
  DCGADFPGVPLAPPRHWDDVVCESRYSEIEPSTEGEVIYRVLDPAIPIPDPYSSRIQNLL
  KITNLRVNLTRLHTLGDNLLDPRREIREKYYYALYELVVRGNCFCYGHASECAPAPGAPA
  HAEGMVHGACICKHNTRGLNCEQCQDFYRDLPWRPAEDGHSHACRKCECHGHTHSCHFDM
  AVYLASGNVSGGVCDGCQHNTAGRHCELCRPFFYRDPTKDLRDPAVCRSCDCDPMGSQDG
  GRCDSHDDPALGLVSGQCRCKEHVVGTRCQQCRDGFFGLSISDRLGCRRCQCNARGTVPG
  STPCDPNSGSCYCKRLVTGRGCDRCLPGHWGLSHDLLGCRPCDCDVGGALDPQCDEGTGQ
  CHCRQHMVGRRCEQVQPGYFRPFLDHLIWEAEDTRGQVLDVVERLVTPGETPSWTGSGFV
  RLQEGQTLEFLVASVPKAMDYDLLLRLEPQVPEQWAELELIVQRPGPVPAHSLCGHLVPK
  DDRIQGTLQPHARYLIFPNPVCLEPGISYKLHLKLVRTGGSAQPETPYSGPGLLIDSLVL
  LPRVLVLEMFSGGDAAALERQATFERYQCHEEGLVPSKTSPSEACAPLLISLSTLIYNGA
  LPCQCNPQGSLSSECNPHGGQCLCKPGVVGRRCDLCAPGYYGFGPTGCQACQCSHEGALS
  SLCEKTSGQCLCRTGAFGLRCDRCQRGQWGFPSCRPCVCNGHADECNTHTGACLGCRDHT
  GGEHCERCIAGFHGDPRLPYGGQCRPCPCPEGPGSQRHFATSCHQDEYSQQIVCHCRAGY
  TGLRCEACAPGHFGDPSRPGGRCQLCECSGNIDPMDPDACDPHTGQCLRCLHHTEGPHCA
  HCKPGFHGQAARQSCHRCTCNLLGTNPQQCPSPDQCHCDPSSGQCPCLPNVQGPSCDRCA
  PNFWNLTSGHGCQPCACHPSRARGPTCNEFTGQCHCRAGFGGRTCSECQELHWGDPGLQC
  HACDCDSRGIDTPQCHRFTGHCSCRPGVSGVRCDQCARGFSGIFPACHPCHACFGDWDRV
  VQDLAARTQRLEQRAQELQQTGVLGAFESSFWHMQEKLGIVQGIVGARNTSAASTAQLVE
  ATEELRREIGEATEHLTQLEADLTDVQDENFNANHALSGLERDRLALNLTLRQLDQHLDL
  LKHSNFLGAYDSIRHAHSQSAEAERRANTSALAVPSPVSNSASARHRTEALMDAQKEDFN
  SKHMANQRALGKLSAHTHTLSLTDINELVCGAPGDAPCATSPCGGAGCRDEDGQPRCGGL
  SCNGAAATADLALGRARHTQAELQRALAEGGSILSRVAETRRQASEAQQRAQAALDKANA
  SRGQVEQANQELQELIQSVKDFLNQEGADPDSIEMVATRVLELSIPASAEQIQHLAGAIA
  ERVRSLADVDAILARTVGDVRRAEQLLQDARRARSWAEDEKQKAETVQAALEEAQRAQGI
  AQGAIRGAVADTRDTEQTLYQVQERMAGAERALSSAGERARQLDALLEALKLKRAGNSLA
  ASTAEETAGSAQGRAQEAEQLLRGPLGDQYQTVKALAERKAQGVLAAQARAEQLRDEARD
  LLQAAQDKLQRLQELEGTYEENERALESKAAQLDGLEARMRSVLQAINLQVQIYNTCQ

• Sequence length: 1798

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
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MET activates PTK2 signaling
Post-translational protein phosphorylation

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
Congenital myasthenic syndrome	Pathogenic	rs1218889239	RCV005863397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Likely pathogenic; Pathogenic	rs2472543506	RCV002294679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LAMB2-related disorder	Pathogenic; Likely pathogenic	rs754597019, rs760355583, rs2472510703, rs969481454	RCV003407804 RCV003417049 RCV003420884 RCV003413855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LAMB2-related infantile-onset nephrotic syndrome	Pathogenic; Likely pathogenic	rs376983109, rs140068188, rs888830612, rs1377725272, rs2107643346, rs1170845795, rs754597019, rs2107638673, rs2107628870, rs750538204, rs1357326383, rs2045374891, rs754137583, rs1560075930, rs1367444910, rs777742373, rs2472543506, rs1575527152, rs2472534505, rs1180200867, rs2472555978, rs2472544213, rs2472536768, rs1560066873, rs2472540557, rs2472538323, rs2472548507, rs2472550610, rs757251877, rs780041521, rs749154605, rs746765362, rs121912488, rs121912489, rs121912491, rs121912492, rs1560075787, rs769399002, rs1440884580, rs2472539033, rs2045391529, rs2472537403, rs387906644, rs1131690793, rs1330915067, rs1384293775, rs1387723456, rs1553776921, rs745926869, rs775456607, rs1374167547, rs746230397, rs2045352880, rs969481454, rs1218889239	RCV006256927 RCV001335012 RCV006256404 RCV006256895 RCV006256899 RCV006256918 RCV006256919 RCV001824179 RCV001808199 RCV006257020 RCV006257016 RCV006256957 RCV006256948 RCV006257019 RCV006257021 RCV006255383 RCV006255393 RCV006255602 RCV006255603 RCV006255443 RCV006255451 RCV006255457 RCV006255463 RCV006255541 RCV006255542 RCV006255539 RCV006255540 RCV003333413 RCV003337794 RCV006255894 RCV006255897 RCV006255899 RCV001335017 RCV000735771 RCV000015633 RCV000015635 RCV000015636 RCV000015637 RCV006255963 RCV006255974 RCV006255977 RCV006255969 RCV000022640 RCV006255691 RCV006255701 RCV006255705 RCV006255703 RCV006255730 RCV000786973 RCV006255868 RCV001029900 RCV001029801 RCV006256231 RCV006256239 RCV005863397	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs376983109, rs2045374191, rs776905329, rs755787013, rs2107636063, rs121912488, rs974891221, rs2045394381	RCV001849740 RCV001580293 RCV001849710 RCV001849725 RCV001849734 RCV001849266 RCV001328152 RCV001328155	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1575527152	RCV005930674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pierson syndrome	Pathogenic; Likely pathogenic	rs376983109, rs140068188, rs888830612, rs1377725272, rs2107643346, rs2045374191, rs1170845795, rs754597019, rs2107639217, rs2107645768, rs2107643014, rs750538204, rs1357326383, rs2045374891, rs754137583, rs1560075930, rs1367444910, rs777742373, rs2472543506, rs730880125, rs1575527152, rs2472534505, rs1180200867, rs2472555978, rs2472544213, rs2472536768, rs1560066873, rs2472540557, rs2472538323, rs2472548507, rs2472542236, rs747602505, rs780041521, rs749154605, rs746765362, rs1560072794, rs121912488, rs1560063136, rs121912489, rs121912490, rs121912491, rs769399002, rs1440884580, rs2472539033, rs2045391529, rs2472537403, rs387906644, rs1131690793, rs1330915067, rs1384293775, rs1387723456, rs1553776921, rs775456607, rs2045352880, rs969481454, rs974891221, rs1218889239, rs2045366127	RCV006256927 RCV006256376 RCV003446734 RCV006256895 RCV006256899 RCV004017851 RCV006256918 RCV006256919 RCV004764381 RCV001808851 RCV001808932 RCV006257020 RCV006257016 RCV006256957 RCV006256948 RCV006257019 RCV006257021 RCV006255383 RCV006255393 RCV000157282 RCV006255602 RCV006255603 RCV006255443 RCV006255451 RCV006255457 RCV006255463 RCV006255541 RCV006255542 RCV006255539 RCV006255540 RCV003225698 RCV003338013 RCV003388360 RCV003445351 RCV004577607 RCV000015628 RCV000015629 RCV000015630 RCV000015631 RCV000015632 RCV006255317 RCV006255318 RCV006255963 RCV006255974 RCV006255977 RCV006255969 RCV006255320 RCV006255691 RCV006255701 RCV006255705 RCV006255703 RCV006255730 RCV000612771 RCV006255868 RCV006256231 RCV006256239 RCV004769974 RCV005863397 RCV001251186	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign; Likely benign; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	Uncertain significance; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse mesangial sclerosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Conflicting classifications of pathogenicity; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
focal and segmental glomerulosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY OPEN ANGLE GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; 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	ClinVar	★★☆☆☆ 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; 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	Relationship Type	References	Evidence Score
Acquired ichthyosis	Associate	36303457	★☆☆☆☆ Found in Text Mining only
Agnathia microstomia synotia	Associate	33476040	★☆☆☆☆ Found in Text Mining only
Albuminuria	Associate	31769495	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	17124250, 19279017	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	15987446	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	29062084	★☆☆☆☆ Found in Text Mining only
Chemke Oliver Mallek syndrome	Associate	38038886	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	36303457	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	36303457	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Associate	32295525	★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Associate	32295525	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Associate	32470267	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Associate	16912710, 28188379, 31769495	★☆☆☆☆ Found in Text Mining only
Eye Infections	Associate	19251977	★☆☆☆☆ Found in Text Mining only
Eye Manifestations	Associate	21236492	★☆☆☆☆ Found in Text Mining only
Galloway Mowat syndrome	Associate	33980730	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Associate	32295525	★☆☆☆☆ Found in Text Mining only
Genetic Diseases Inborn	Associate	31769495	★☆☆☆☆ Found in Text Mining only
Glaucoma Neovascular	Associate	36829142	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Associate	34143713	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	15987446, 33694259	★☆☆☆☆ Found in Text Mining only
Glioma of Brain Familial	Associate	15274074	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Associate	29138824	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Associate	27004562	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Associate	31769495	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Associate	28683731	★☆☆☆☆ Found in Text Mining only
Hematuria	Associate	33476040	★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Associate	20118558	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Associate	31769495	★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Associate	37711606	★☆☆☆☆ Found in Text Mining only
Hyphema	Associate	36829142	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Associate	31769495	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Associate	31426504, 37858084	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	28683731	★☆☆☆☆ Found in Text Mining only
Infertility	Associate	36303457	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	19279017	★☆☆☆☆ Found in Text Mining only
Iris Diseases	Associate	36829142	★☆☆☆☆ Found in Text Mining only
Joint Diseases	Associate	32322000	★☆☆☆☆ Found in Text Mining only
Kashin Beck Disease	Associate	32322000	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Associate	27004562, 33476040	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Associate	38038886	★☆☆☆☆ Found in Text Mining only
Kidney Tubular Necrosis Acute	Associate	28683731	★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	36303457	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcoria congenital	Associate	16912710, 27004562, 28188379, 33476040	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Associate	19251977	★☆☆☆☆ Found in Text Mining only
Myopia	Associate	28188379	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	15987446, 21276136, 22187159	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	21276136, 36303457	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	33955587	★☆☆☆☆ Found in Text Mining only
Nephritis	Associate	33476040	★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Associate	27004562	★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Associate	16912710, 19251977, 27004562, 28188379, 28683731, 31769495, 33476040, 33980730, 37845138, 38146730	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Associate	20798252, 21236492, 24742477, 24856380, 26108971, 28188379, 31769495, 33982833, 35920919	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurologic Manifestations	Associate	28188379, 33476040	★☆☆☆☆ Found in Text Mining only
Optic Nerve Hypoplasia	Associate	31769495	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	20969748	★☆☆☆☆ Found in Text Mining only
Pierson syndrome	Associate	16912710, 21236492, 27004562, 27130041, 28188379, 31769495, 32295525, 32470267, 33476040, 33982833, 36829142, 38038886	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proteinuria	Associate	31937884, 33476040, 38038886	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	27004562, 28188379	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Associate	21236492, 28188379	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Associate	40157360	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Associate	2309700	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Associate	27068509	★☆☆☆☆ Found in Text Mining only
Vitreous Hemorrhage	Associate	36829142	★☆☆☆☆ Found in Text Mining only
Vomiting	Associate	32295525	★☆☆☆☆ Found in Text Mining only