Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
0.100 Biomarker phenotype HPO
CUI: C0264714
Disease: Acute heart failure
Acute heart failure
0.010 Biomarker disease BEFREE This study was aimed to further confirm LTBP-2 act as a novel marker in human acute heart failure. 22515403 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 AlteredExpression disease BEFREE RESULTS IHC results showed that LTBP2 levels were significantly elevated in the PDAC tissues as compared with the adjacent nontumor tissues (P<0.05). 28669978 2017
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.100 Biomarker disease HPO
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.010 AlteredExpression group BEFREE The present study aimed to explore the expression of latent transforming growth factor β binding protein 2 (LTBP2) in patients with hepatocellular carcinoma (HCC) and their correlation to clinicopathologial features.Serum levels of LTBP2 in 60 patients with HCC, 35 patients with hepatocellular benign tumors, 60 patients with precancerous lesions of HCC, and 60 healthy volunteers were determined by enzyme-linked immunosorbent assay. 31574831 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 Biomarker disease HPO
CUI: C4551507
Disease: Buphthalmos
Buphthalmos
0.010 GeneticVariation disease BEFREE Congenital megalocornea with childhood secondary glaucoma from spherophakia and/or ectopia lentis is a distinct condition caused by recessive LTBP2 mutations that needs to be distinguished from buphthalmos secondary to primary congenital/infantile glaucoma because typical initial surgical treatment is lens removal in the former and angle surgery in the latter. 22025892 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE In summary, the present study has provided further evidence that knockdown of LTBP2 inhibits invasion and tumorigenesis in thyroid carcinoma cells. 27712597 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE LTBP2 is a member of the fibrillin/LTBP super family and plays a critical role in tumorigenesis by activating TGF-<i>β</i> in the CMS4 CRC subtype. 30956730 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.010 Biomarker group BEFREE LTBP2 knockdown by siRNA reverses myocardial oxidative stress injury, fibrosis and remodelling during dilated cardiomyopathy. 31512380 2020
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 AlteredExpression disease BEFREE LTBP2 was up-regulated in DCM rats.After LTBP2 was knocked down, haemodynamic indexes, HW/BW ratio, collagen volume fraction (CVF) level, positive expression of LTBP2, levels of reactive oxygen species (ROS), malondialdehyde (MDA), interleukin-6 (IL-6), tumour necrosis factor-alpha (TNF-α), tumour necrosis factor beta 1 (TGF-β1) and brain natriuretic peptide (BNP) were all decreased. 31512380 2020
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease HPO
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 Biomarker disease BEFREE In conclusion, miR-421 plays an oncogenic role in OS via targeting LTBP2, suggesting that miR-421 may be a potential therapeutic target against OS. 30924175 2019
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
0.010 Biomarker disease BEFREE Co-localization of LTBP-2 with FGF-2 in fibrotic human keloid and hypertrophic scar. 26644005 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 AlteredExpression disease BEFREE Finally, we highlight two novel antigens, LTBP2 and TGFBI, whose expression is a consistent feature of CRC liver metastasis. 23832580 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 AlteredExpression disease BEFREE High LTBP2 protein expression was related to poor overall survival in CRC patients and was an independent prognostic factor for CRC. 30956730 2019
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus
0.120 GeneticVariation disease BEFREE Recessive variants in LTBP2 are associated with eye-restricted phenotypes including (a) primary congenital glaucoma and (b) microspherophakia/megalocornea and ectopia lentis with/without secondary glaucoma. 30565850 2019
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus
0.120 GeneticVariation disease BEFREE LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 20179738 2010