Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.750 GermlineCausalMutation disease ORPHANET Inherited ichthyoses/generalized Mendelian disorders of cornification. 22739337 2013
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.750 Biomarker disease CTD_human Discovery of potent and selective inhibitors of human platelet-type 12- lipoxygenase. 21739938 2011
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.750 GermlineCausalMutation disease ORPHANET A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. 16792775 2006
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.750 Biomarker disease HPO
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.750 CausalMutation disease CLINVAR
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease CLINVAR Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 26762237 2016
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease UNIPROT Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 CausalMutation disease CLINVAR Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease CLINVAR Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. 20222929 2010
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease CLINVAR Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 19890349 2010
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease UNIPROT Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 CausalMutation disease CLINVAR Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 19131948 2009
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease CLINVAR Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 17139268 2007
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 CausalMutation disease CLINVAR Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease CLINVAR Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.600 GeneticVariation disease UNIPROT Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 16116617 2005