Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1393570830
rs1393570830
ATP2C1
0.700 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: rs1393570830
rs1393570830
ATP2C1
0.700 GeneticVariation UNIPROT Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. 11874499

2002
dbSNP: rs1393570830
rs1393570830
ATP2C1
0.700 GeneticVariation UNIPROT Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. 11841554

2002
dbSNP: rs1393570830
rs1393570830
ATP2C1
0.700 GeneticVariation UNIPROT Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. 10615129

2000
dbSNP: rs1393570830
rs1393570830
ATP2C1
0.700 GeneticVariation UNIPROT Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. 10767338

2000