OCLN, occludin, 100506658

N. diseases: 195; N. variants: 8
Disease: Baraitser Brett Piesowicz syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931662
Disease: Baraitser Brett Piesowicz syndrome
Baraitser Brett Piesowicz syndrome 		0.320 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: C2931662
Disease: Baraitser Brett Piesowicz syndrome
Baraitser Brett Piesowicz syndrome 		0.320 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: C2931662
Disease: Baraitser Brett Piesowicz syndrome
Baraitser Brett Piesowicz syndrome 		0.320 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