Gene: ABCA12 ×
Source: ALL
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 BEFREE ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and missense mutations in ABCA12 have been reported to cause lamellar ichthyosis type 2, a milder form of ichthyosis. 16007253 2005
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 GeneticVariation disease BEFREE We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. 12915478 2003
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
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 Biomarker disease CTD_human
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 CausalMutation disease CLINVAR
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 GeneticVariation disease CLINVAR
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.720 Biomarker disease GENOMICS_ENGLAND