Disease: Lamellar ichthyosis, type 2 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		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
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation disease UNIPROT ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603 2009
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation disease UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401 2008
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		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
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		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
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 Biomarker disease CTD_human
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 Biomarker disease GENOMICS_ENGLAND