OCLN, occludin, 100506658

N. diseases: 195; N. variants: 8
Disease: PSEUDO-TORCH SYNDROME 1 ×
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 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 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: 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 CTD_human
CUI: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		0.700 CausalMutation disease CLINVAR