Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE We investigated genotype-phenotype correlations between lifetime neuropsychiatric features and ATP2A2 mutation type (dichotomized into likely gene disrupting [LGD] or protein altering) in 75 unrelated individuals with DD. 30345710 2018
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 Biomarker disease BEFREE Gene silencing of ATP2A2 in keratinocytes grown in a 3D model resulted in dyskeratosis, partial parakeratosis and suprabasal clefts that resembled the histological changes seen in skin biopsies from patients with DD. 28094886 2017
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD. 28035777 2017
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 Biomarker disease BEFREE Collectively, our data demonstrate that loss of SERCA2 impairs ER-to-Golgi transport of nascent DC, which may contribute to DD pathogenesis. 28156030 2017
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease UNIPROT Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD. 28035777 2017
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. 28498512 2017
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE The only non-LGD mutation (p.C560R) reported in patients with Darier's disease and BD caused decreased ATP2A2 protein expression. 27106560 2016
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Darier disease (DD) is a rare genodermatosis caused by heterozygous mutations in the ATP2A2 gene. 26471493 2016
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype-phenotype correlations. 25283811 2015
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE The association between Darier disease and bipolar disorder is manifest also in the population, and our data suggest that genetic variability within the ATP2A2 gene that causes Darier disease also confers susceptibility for bipolar disorder. 25213221 2015
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 AlteredExpression disease BEFREE Previously, the compensatory expression of SPCA1 for SERCA2 insufficiency in DD was demonstrated, but it is not known whether a similar compensatory mechanism exists in HHD. 25256005 2015
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 Biomarker disease BEFREE These data reveal myofibrillar Ca(2+)-sensitivity to be an important determinant of the cardiac effects of SERCA2 haploinsufficiency and raise the possibility that Darier disease patients are more susceptible to heart failure under certain conditions. 26064889 2015
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE These mutations may contribute to the expanding database of ATP2A2 gene mutations in patients with DD. 25872913 2015
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GermlineCausalMutation disease ORPHANET A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease. 23621824 2014
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GermlineCausalMutation disease ORPHANET We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. 23356892 2013
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. 23356892 2013
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 Biomarker disease BEFREE Here, we report early evidence that the keratinocyte sphingolipid and Ca(2+) signaling pathways intersect in ATP2A2-controlled ER Ca(2+) sequestration, E-cadherin and DP localization, and Ca(2+)-controlled differentiation, and thus may be important mediators in DD. 22277942 2012
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GermlineCausalMutation disease ORPHANET The results will contribute to the expanding database of ATP2A2 mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families. 22909361 2012
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 Biomarker disease BEFREE Cyclooxygenase-2 inhibition restores ultraviolet B-induced downregulation of ATP2A2/SERCA2 in keratinocytes: possible therapeutic approach of cyclooxygenase-2 inhibition for treatment of Darier disease. 22413864 2012
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Here we report two Chinese families affected by DD with two ATP2A2 mutations. 22909361 2012
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Both mutations were not among the 162 mutations in ATP2A2, which were reported to date in DD. 22814319 2012
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Here, we review the role of SERCA2 pumps and calcium in normal epidermis, and we discuss the consequences of ATP2A2 mutations on Ca(2+) signaling in DD. 21167218 2011
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease. 21519848 2011
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 Biomarker disease BEFREE Systematic analysis of diverse mutants identical to those found in DD patients demonstrated that the ER stress initiator is the SERCA2 mutant protein itself. 22045735 2011
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation disease BEFREE Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease. 22004489 2011