Disease: Harlequin type ichthyosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker disease MGD Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. 27551807 2016
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GermlineCausalMutation disease ORPHANET Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. 19179616 2009
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker disease MGD ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. 18957418 2008
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker disease MGD A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. 18802465 2008
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker disease MGD Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. 18632686 2008
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GeneticVariation disease UNIPROT Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. 16675967 2006
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GeneticVariation disease UNIPROT ABCA12 is the major harlequin ichthyosis gene. 16902423 2006
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker disease CTD_human
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 CausalMutation disease CLINVAR
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GeneticVariation disease CLINVAR