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
0.900 Biomarker GENOMICS_ENGLAND

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 GeneticVariation BEFREE Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. 15756637

2005

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 Biomarker BEFREE Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrated to underlie phenotypically different diseases affecting the skin (pseudoxanthoma elasticum and harlequin ichthyosis, respectively), attesting to the spectrum of ABC gene mutations in human diseases. 15996518

2005

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 Biomarker BEFREE We confirmed that ABCA12 defects cause congested lipid secretion in cultured HI keratinocytes and succeeded in obtaining the recovery of LG lipid secretion after corrective gene transfer of ABCA12. 16007253

2005

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 Biomarker BEFREE One of these components, ABCA12, has recently been shown to be a keratinocyte lipid transporter associated with lipid transport in lamellar granules and loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in the HI phenotype. 16481150

2006

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 GeneticVariation BEFREE Recently, ABCA12 mutations were identified as the cause of HI. 16675967

2006

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 Biomarker CTD_human Recently, ABCA12 mutations were identified as the cause of HI. 16675967

2006

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 Biomarker BEFREE Harlequin ichthyosis is caused by a serious functional deficiency of ABCA12. 16847209

2006

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 AlteredExpression BEFREE This report provides evidence for residual ABCA12 expression in HI, and demonstrates the efficiency of early DNA-based PD of HI. 17082782

2007

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 AlteredExpression BEFREE The present patient demonstrates that rapid diagnosis of HI by ABCA12 expression analysis and mutation detection, and early commencement of systemic retinoid therapy are crucial to significantly improving an HI patient's prognosis. 17684380

2007

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 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
0.900 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
0.900 Biomarker BEFREE 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
0.900 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
0.900 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
0.900 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
0.900 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

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 AlteredExpression BEFREE As seen in HI epidermis, proteins that are normally expressed in late differentiation were highly dysregulated in the ABCA12-ablated OTCC system. 19179616

2009

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 GermlineCausalMutation ORPHANET As seen in HI epidermis, proteins that are normally expressed in late differentiation were highly dysregulated in the ABCA12-ablated OTCC system. 19179616

2009

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

2009

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 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
0.900 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

2010

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
0.900 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
0.900 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
0.900 GeneticVariation BEFREE We report the case of an infant with novel heterozygous mutations in ABCA12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis. 22299640

2014