OCLN, occludin, 100506658

N. diseases: 195; N. variants: 8
Disease: Polymicrogyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.150 GeneticVariation disease BEFREE Here we report 4 additional cases of BLC-PMG with novel OCLN mutations, and provide a summary of the published mutational spectrum. 28386946 2018
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.150 GeneticVariation disease BEFREE Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. 28179633 2017
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.150 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: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.150 GeneticVariation disease BEFREE Furthermore, the lack of polymicrogyria associated with the rearrangement of OCLN in our patients extends the range of cranial defects that can be observed due to OCLN mutations. 23793442 2013
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.150 GeneticVariation disease BEFREE By using autozygosity mapping and copy number analysis we identified intragenic deletions and mutations in OCLN in nine patients from six families with BLC-PMG. 20727516 2010
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.150 Biomarker disease HPO