OCLN, occludin, 100506658

N. diseases: 195; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 GeneticVariation disease CLINVAR
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 20727516 2010
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 Biomarker disease CTD_human
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 CausalMutation disease CLINVAR
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND A novel rearrangement of occludin causes brain calcification and renal dysfunction. 23793442 2013
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 20727516 2010
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 20727516 2010
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.620 GeneticVariation disease BEFREE Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and known to result from biallelic mutations in the Occludin(OCLN) gene. 26689621 2016
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND A novel rearrangement of occludin causes brain calcification and renal dysfunction. 23793442 2013
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.620 GermlineCausalMutation disease ORPHANET Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 20727516 2010
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 20727516 2010
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.620 CausalMutation disease CLINVAR
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.620 GeneticVariation disease BEFREE Their clinical presentation overlaps with some reported cases of pseudo-TORCH syndrome as well as with cases involving mutations in occludin, another component of the tight-junction complex. 21109224 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.350 Biomarker disease CTD_human Occludin-mediated premature senescence is a fail-safe mechanism against tumorigenesis in breast carcinoma cells. 17459053 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.350 AlteredExpression disease BEFREE Western blot analyses indicated that TMEM88 promoted Snail expression and inhibited Zo-1 and Occludin expression by interacting with dishevelled (Dvl) proteins, thereby stimulating invasion and metastasis in breast cancer. 26325443 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.350 AlteredExpression disease BEFREE There was also considerable variation in the expression of occludin in the 10 human breast cancer cell lines investigated. 20878095 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.350 AlteredExpression disease BEFREE <i>In vitro</i>, knock-down of <i>CSNK1D</i> expression with specific shRNAs in the breast cancer cell line MDA-MB-231 markedly inhibited cancer cell proliferation, invasion and migration and affected the expression of the tight junction proteins claudin 1, occludin and the junction adhesion molecule A. 30112110 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.350 Biomarker disease BEFREE Retroviral-induced CLDN1 reexpression in breast cancer cells results in plasma membrane homing of the protein and reconstitution of paracellular flux inhibition, which is not dependent on the presence of occludin protein. 14648703 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.350 Biomarker disease CTD_human MCF-7 cells expressing nuclear associated lysyl oxidase-like 2 (LOXL2) exhibit an epithelial-to-mesenchymal transition (EMT) phenotype and are highly invasive in vitro. 24014025 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.350 AlteredExpression disease BEFREE Exposure of estrogen-independent MDA-MB-231 and estrogen-responsive MCF-7 human breast cancer cell lines and a pancreatic cancer cell line (PL-45) to BITC resulted in upregulation of epithelial markers (e.g., E-cadherin and/or occludin) with a concomitant decrease in protein levels of mesenchymal markers, including vimentin, fibronectin, snail, and/or c-Met. 21464039 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.350 Biomarker disease CTD_human Here we show that forced expression of occludin induces anoikis and promotes oxidative stress-induced premature senescence in breast carcinoma cells, which is accompanied by upregulation of negative cell cycle regulators such as p16(INK4A), p21(Waf1/Cip1) and p27(Kip1) but not p53. 17459053 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.350 AlteredExpression disease BEFREE <i>In vitro</i>, knock-down of <i>CSNK1D</i> expression with specific shRNAs in the breast cancer cell line MDA-MB-231 markedly inhibited cancer cell proliferation, invasion and migration and affected the expression of the tight junction proteins claudin 1, occludin and the junction adhesion molecule A. 30112110 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.350 AlteredExpression disease BEFREE There was also considerable variation in the expression of occludin in the 10 human breast cancer cell lines investigated. 20878095 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.350 AlteredExpression disease BEFREE Western blot analyses indicated that TMEM88 promoted Snail expression and inhibited Zo-1 and Occludin expression by interacting with dishevelled (Dvl) proteins, thereby stimulating invasion and metastasis in breast cancer. 26325443 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.350 Biomarker disease CTD_human MCF-7 cells expressing nuclear associated lysyl oxidase-like 2 (LOXL2) exhibit an epithelial-to-mesenchymal transition (EMT) phenotype and are highly invasive in vitro. 24014025 2013