Gene: ABCA12 ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease UNIPROT ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603 2009
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 GeneticVariation disease UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401 2008
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease UNIPROT We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. 12915478 2003