Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GeneticVariation LHGDN ABCA12 is the major harlequin ichthyosis gene. 16902423

2006
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GeneticVariation LHGDN Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. 16007253

2005
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GeneticVariation LHGDN Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003