IPO13, importin 13, 9670

N. diseases: 22; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 Biomarker disease BEFREE Morpholino-oligonucleotide-induced knockdown of ipo13 in zebrafish caused dose-dependent microphthalmia and coloboma, which is highly similar to the ocular phenotypes in the patient. 29700284 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.010 Biomarker disease BEFREE Morpholino-oligonucleotide-induced knockdown of ipo13 in zebrafish caused dose-dependent microphthalmia and coloboma, which is highly similar to the ocular phenotypes in the patient. 29700284 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.010 GeneticVariation disease BEFREE Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract. 29700284 2018
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		0.010 Biomarker disease BEFREE Our findings provide a mechanism for the ineffectiveness of glucocorticoids in RSV-related disease and highlight the potential to target the IPO13-GR axis as a treatment for multiple glucocorticoid-related diseases. 28968829 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE Our results suggest that Lgl2 loss occurs at an early stage of gastric carcinogenesis and contributes to GC progression. 24337435 2014
CUI: C0267111
Disease: Gastric dysplasia
Gastric dysplasia 		0.010 AlteredExpression disease BEFREE During gastric carcinogenesis, membrane expression of Lgl2 was progressively lost in 4 % of normal mucosa, 75 % of intestinal metaplasia, 58 % of gastric dysplasia, 69 % of intestinal type GC, and 96 % of diffuse type GC. 24337435 2014
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 AlteredExpression phenotype BEFREE During gastric carcinogenesis, membrane expression of Lgl2 was progressively lost in 4 % of normal mucosa, 75 % of intestinal metaplasia, 58 % of gastric dysplasia, 69 % of intestinal type GC, and 96 % of diffuse type GC. 24337435 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Our results suggest that Lgl2 loss occurs at an early stage of gastric carcinogenesis and contributes to GC progression. 24337435 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE Our results suggest that Lgl2 loss occurs at an early stage of gastric carcinogenesis and contributes to GC progression. 24337435 2014
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 GeneticVariation disease BEFREE The following genotypes were associated with respiratory severity outcomes: BPD-fetal Importin 13 gene (IPO13; rs4448553; odds ratio [OR], 0.01; 95% confidence interval [CI], 0.00-0.92); surfactant use-maternal IPO13 (rs2428953 and 2486014; OR, 13.8; 95% CI, 1.80-105.5; and OR, 35.5; 95% CI, 1.71-736.6, respectively). 23295978 2013
CUI: C0033999
Disease: Pterygium
Pterygium 		0.010 AlteredExpression disease BEFREE IPO13 activity was significantly increased in the basal layer of the epithelium of the pterygium. 23559854 2013
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		0.010 AlteredExpression disease BEFREE IPO13 activity was significantly increased in the basal layer of the epithelium of the pterygium. 23559854 2013
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye 		0.010 AlteredExpression disease BEFREE IPO13 activity was significantly increased in the basal layer of the epithelium of the pterygium. 23559854 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE The 5'-CpG islands of both miR-200 loci were found unmethylated and coupled to the expression of the corresponding miRNAs in human cancer cell lines with epithelial features, such as low levels of ZEB1/ZEB2 and high expression of E-cadherin, CRB3 and LGL2, while CpG island hypermethylation-associated silencing was observed in transformed cells with mesenchymal characteristics. 21874049 2012
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 AlteredExpression disease BEFREE These results demonstrate an increased expression of IPO13 in endometriosis and endometrial carcinoma, which could be involved in the pathogenesis of endometriosis and endometrial carcinoma; IPO13 can serve as an endometrial progenitor/stem cell marker. 22648251 2012
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 Biomarker disease BEFREE These results demonstrate an increased expression of IPO13 in endometriosis and endometrial carcinoma, which could be involved in the pathogenesis of endometriosis and endometrial carcinoma; IPO13 can serve as an endometrial progenitor/stem cell marker. 22648251 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE The 5'-CpG islands of both miR-200 loci were found unmethylated and coupled to the expression of the corresponding miRNAs in human cancer cell lines with epithelial features, such as low levels of ZEB1/ZEB2 and high expression of E-cadherin, CRB3 and LGL2, while CpG island hypermethylation-associated silencing was observed in transformed cells with mesenchymal characteristics. 21874049 2012
CUI: C0156369
Disease: Uterine Polyp
Uterine Polyp 		0.010 AlteredExpression disease BEFREE The expression levels of IPO13, c-kit, telomerase, caspase3, and bax were decreased; however, the expression of bcl-2 was increased in the EP tissue compared to the normal endometrial tissue. 21804459 2011
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE We hypothesize that common IPO13 genetic variation influences the anti-inflammatory effects of inhaled corticosteroids for the treatment of asthma, as measured by change in methacholine airway hyperresponsiveness (AHR-PC20). 19619331 2009
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.010 GeneticVariation disease BEFREE Importin-13 genetic variation is associated with improved airway responsiveness in childhood asthma. 19619331 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Thereby, ZEB1 suppresses the expression of cell polarity factors, in particular of Lgl2, which we found reduced in colorectal and breast cancers. 18199550 2008
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE We further show that retention of Lgl2 expression is critical for the epithelial phenotype and that its loss might be involved in metastasis. 18199550 2008