ALOXE3, arachidonate lipoxygenase 3, 59344

N. diseases: 61; N. variants: 15
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		A 0.800 CausalMutation CLINVAR Autosomal recessive congenital ichthyoses in the Czech Republic. 25998749 2016
dbSNP: rs121434232
rs121434232
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
dbSNP: rs121434234
rs121434234
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
dbSNP: rs1355284797
rs1355284797
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		A 0.800 CausalMutation CLINVAR Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
dbSNP: rs121434232
rs121434232
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
dbSNP: rs121434234
rs121434234
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
dbSNP: rs1355284797
rs1355284797
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		A 0.800 CausalMutation CLINVAR Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
dbSNP: rs121434232
rs121434232
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. 15629692 2005
dbSNP: rs121434232
rs121434232
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
dbSNP: rs121434234
rs121434234
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. 15629692 2005
dbSNP: rs121434234
rs121434234
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
dbSNP: rs1355284797
rs1355284797
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. 15629692 2005
dbSNP: rs1355284797
rs1355284797
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		A 0.800 CausalMutation CLINVAR Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. 15629692 2005
dbSNP: rs121434232
rs121434232
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. 11773004 2002
dbSNP: rs121434234
rs121434234
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. 11773004 2002
dbSNP: rs1355284797
rs1355284797
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. 11773004 2002
dbSNP: rs147149459
rs147149459
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. 11773004 2002
dbSNP: rs121434232
rs121434232
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
CUI: C3539888
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		A 0.800 CausalMutation CLINVAR