Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene. 28295493

2018

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. 27551807

2017

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. 27551807

2017

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE However, mutation segregation analysis, SNP analysis, qRTPCR of gDNA in exon 11 of ABCA12 and direct sequencing of cDNA from exon 9 to exon 12 of ABCA12 and of gDNA between intron 9 and intron 11 of ABCA12 in the HI patient and her parents demonstrated that the present patient was compound heterozygous for two ABCA12 mutations: c.1216A>T (p.Lys406X) in exon 11 and g.111346_113217del1872 (p.Leu355_Lys428del, Gln354fs7*) which was overlapping exon deletion mutations involving exons 10 and 11. 26475431

2016

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis. 25479012

2015

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE ABCA12 mutations are known to underlie the three major types of autosomal recessive congenital ichthyoses: harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma. 23954554

2014

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction. 22864982

2013

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). 22257947

2012

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI).HI shows the most severe phenotype. 20672373

2011

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis. 21339420

2011

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker BEFREE Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice. 20489143

2010

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation BEFREE Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. 19664001

2010

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 CausalMutation CLINVAR Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. 19664001

2010

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker BEFREE Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. 19179616

2009

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. 18802465

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker BEFREE Our HI model mice reproduce the human HI skin phenotype soon after the initiation of fetal skin keratinization and provide evidence that ABCA12 plays pivotal roles in lung and skin barrier functions. 18632686

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD To investigate the pathomechanism of HI and the function of the ABCA12 protein, we generated ABCA12-deficient mice (Abca12(-/-)) by targeting Abca12. 18632686

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Our HI model mice reproduce the human HI skin phenotype soon after the initiation of fetal skin keratinization and provide evidence that ABCA12 plays pivotal roles in lung and skin barrier functions. 18632686

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Harlequin Ichthyosis (HI) is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. 18802465

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker BEFREE Until the identification of ABCA12 as the causative gene, prenatal diagnosis (PND) for HI had been performed by electronmicroscopic observation of fetal skin biopsy samples. 18262308

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Harlequin ichthyosis (HI), which is the most severe genodermatosis, is caused by loss-of-function mutations in ABCA12, a member of the ATP-binding cassette transporter family. 18632686

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker BEFREE A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. 18802465

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Abca12(-/-) mice closely reproduce the human HI phenotype, showing marked hyperkeratosis with eclabium and skin fissure. 18632686

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker BEFREE In fact, loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in the HI phenotype and ABCA12 is a known keratinocyte lipid transporter associated with lipid transport in lamellar granules. 18341575

2008

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 Biomarker MGD Mutations in the gene encoding a member of the ABCA transporter family, ABCA12, have been linked to harlequin ichthyosis, but the molecular function of the protein is unknown. 18957418

2008