Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912734
rs121912734
ATP2A2
0.810 GeneticVariation UNIPROT Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. 28035777

2017
dbSNP: rs121912734
rs121912734
ATP2A2
0.810 GeneticVariation BEFREE The only non-LGD mutation (p.C560R) reported in patients with Darier's disease and BD caused decreased ATP2A2 protein expression. 27106560

2016
dbSNP: rs121912734
rs121912734
ATP2A2
0.810 GeneticVariation UNIPROT Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease. 19995371

2010
dbSNP: rs121912734
rs121912734
ATP2A2
0.810 GeneticVariation UNIPROT ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. 10441324

1999
dbSNP: rs121912734
rs121912734
ATP2A2
0.810 GeneticVariation UNIPROT Spectrum of novel ATP2A2 mutations in patients with Darier's disease. 10441323

1999
dbSNP: rs121912734
rs121912734
ATP2A2
0.810 GeneticVariation UNIPROT Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. 10080178

1999
dbSNP: rs121912734
rs121912734
ATP2A2
0.810 GeneticVariation UNIPROT ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. 10441325

1999
dbSNP: rs121912734
rs121912734
ATP2A2
C 0.810 CausalMutation CLINVAR