Disease: Keratosis Follicularis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 CausalMutation disease CLINVAR
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE (1) We have previously reported a family in which major affective disorder co-segregated with Darier's disease, consistent with linkage between the Darier gene and a susceptibility locus for affective illness (max lod = 2.1).(2) The Darier gene has been mapped to 12q 23-q24.1 and identified as ATP2A2, a gene encoding SERCA2-a sarcoplasmic/endoplasmic reticulum calcium pump that plays a role in intracellular calcium signalling. 11986988 2002
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE Darier's disease (DD) is a high penetrance, autosomal dominant mutation in the ATP2A2 gene, which encodes the SERCA2 Ca2+ pump. 11387203 2001
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 Biomarker disease LHGDN Darier's disease (DD) is an autosomal dominant disorder caused by mutations in the ATP2A2 gene, encoding sarco/endoplasmic reticulum Ca2+-ATPase pump type 2b isoform (SERCA2b). 12670936 2003
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE Darier's disease (DD) is an autosomal dominant disorder caused by mutations in the ATP2A2 gene, encoding sarco/endoplasmic reticulum Ca2+-ATPase pump type 2b isoform (SERCA2b). 12670936 2003
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease LHGDN Darier disease (DD) is caused by mutations of the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2). 15316170 2004
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE Darier disease (DD) is caused by mutations of the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2). 15316170 2004
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE Darier's disease (DD) and Hailey-Hailey disease (HHD) are skin disorders arising, respectively, from autosomal dominant mutations in ATP2A2, encoding the sacro/endoplasmic reticulum calcium ATPase, and ATP2C1, encoding the Golgi apparatus calcium ATPase. 15888147 2005
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 Biomarker disease CTD_human Darier's disease is caused by mutations of the ATP2A2 gene, which codes for the SERCA2 endoplasmic reticulum calcium pump. 16733453 2006
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE Darier's disease (DD), an autosomal dominant inherited disorder of the skin, arising due to mutations in the isoform 2 of the sarco (endo) plasmic reticulum Ca(2+) ATPase (SERCA2), exemplifies an anomaly of Ca(2+) signaling disturbances. 18049860 2008
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. 18060195 2007
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 Biomarker disease CTD_human Darier disease (DD) and Hailey-Hailey disease (HHD) are rare autosomal dominantly inherited genodermatoses with mutations in the respective genes, ATP2A2 and ATP2C1, that encode the respective calcium adenosine triphosphatases SERCA2 and PMRI/SPCA1. 20338123 2010
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 Biomarker disease BEFREE ATP2A2, the gene that is abnormal in Darier's disease, encodes SERCA2, a calcium pump that is expressed in many tissues. 11722459 2001
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 Biomarker disease BEFREE ATP2A2 encoding the sarco(endo)plasmic reticulum Ca2+ ATPase2 pump has been identified as the defective gene in Darier's disease. 12542527 2003
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 Biomarker disease BEFREE ATP2A2 and ATP2C1 have been identified as the causative genes for Darier's disease and Hailey-Hailey disease, respectively. 15149492 2004
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE A 44-year-old DD woman had a novel T insertion at nucleotide 559 in exon 7 of the ATP2A2 gene, which resulted in a premature termination codon (PTC) at codon 192. 15186327 2004
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease LHGDN A 44-year-old DD woman had a novel T insertion at nucleotide 559 in exon 7 of the ATP2A2 gene, which resulted in a premature termination codon (PTC) at codon 192. 15186327 2004
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE A mutation in the ATP2A2 gene has been shown to be associated with AKV and with Darier's disease (DD). 16716163 2006
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation disease BEFREE A mutation of Atp2a2 gene encoding the sarco/endoplasmic reticulum Ca(2+)-ATPase 2 (SERCA2) causes Darier's disease in human and null mutation in one copy of Atp2a2 leads to a high incidence of squamous cell tumor in a mouse model. 19840814 2010
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 GeneticVariation disease BEFREE A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease. 20857128 2010
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 Biomarker disease BEFREE A null mutation in one copy of the Atp2a2 or ATP2A2 gene, encoding sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 (SERCA2), leads to squamous cell tumors in mice and to Darier disease in humans, a skin disorder that also involves keratinocytes. 16204033 2005
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 Biomarker disease MGD Accelerated onset of heart failure in mice during pressure overload with chronically decreased SERCA2 calcium pump activity. 14630633 2004
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