Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker MGD Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. 27551807

2016
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker MGD ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. 18957418

2008
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker MGD A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. 18802465

2008
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 Biomarker MGD Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. 18632686

2008