Gene: ALOX12B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GermlineCausalMutation disease ORPHANET Inherited ichthyoses/generalized Mendelian disorders of cornification. 22739337 2013
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 Biomarker disease CTD_human Discovery of potent and selective inhibitors of human platelet-type 12- lipoxygenase. 21739938 2011
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GeneticVariation disease BEFREE Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GeneticVariation disease BEFREE Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. 18347291 2008
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GeneticVariation disease BEFREE Non-bullous congenital ichthyosis erythroderma (NCIE) and lamellar ichthyosis (LI) are characterized by mutations in 12R-lipoxygenase (12R-LOX) and/or epidermal lipoxygenase 3 (eLOX3) enzymes. 18086569 2008
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GermlineCausalMutation disease ORPHANET Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. 18347291 2008
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GeneticVariation disease BEFREE Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 17139268 2007
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GermlineCausalMutation disease ORPHANET A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. 16792775 2006
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GeneticVariation disease BEFREE The characterization of disease-causing mutations in ALOXE3 and ALOX12B and the resulting ARCI phenotypes did not result in clear diagnostic criteria; however, we found a first correlation between the genetic findings and the clinical presentation of ichthyosis. 16116617 2005
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 GermlineCausalMutation disease ORPHANET Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI. 12780701 2003
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 Biomarker disease HPO
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.750 CausalMutation disease CLINVAR