Source: ORPHANET

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 GermlineCausalMutation ORPHANET Inherited ichthyoses/generalized Mendelian disorders of cornification. 22739337

2013
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GermlineCausalMutation ORPHANET Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. 22257947

2012
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GermlineCausalMutation ORPHANET ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603

2009
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.700 GermlineCausalMutation ORPHANET Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008