Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation UNIPROT 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: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation UNIPROT ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603

2009
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation UNIPROT Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. 17508018

2007
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation UNIPROT We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. 12915478

2003