Disease: Congenital ichthyosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.040 GeneticVariation disease BEFREE Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. 30561130 2018
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.040 GeneticVariation disease BEFREE Our results demonstrate that p.Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome. 28017832 2017
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.040 Biomarker disease BEFREE The present observations indicate that VPS33B deficiency results in abnormal secretion of lamellar granules, which underlies ichthyosis in ARC syndrome. 18347289 2008
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.040 GeneticVariation disease BEFREE VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. 16492441 2006