Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912737
rs121912737
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0265971
Disease:
Acrokeratosis Verruciformis of Hopf 		0.830 GeneticVariation BEFREE We report a family with AKV due to the p.(Pro602Leu) mutation and discuss implications for this recurrent mutation on knowledge of ATP2A2 structure and function. 28498512 2017
dbSNP: rs121912737
rs121912737
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0265971
Disease:
Acrokeratosis Verruciformis of Hopf 		0.830 GeneticVariation BEFREE Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. 22814319 2012
dbSNP: rs121912737
rs121912737
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0265971
Disease:
Acrokeratosis Verruciformis of Hopf 		0.830 GeneticVariation BEFREE In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2. 12542527 2003
dbSNP: rs121912737
rs121912737
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0265971
Disease:
Acrokeratosis Verruciformis of Hopf 		0.830 GeneticVariation UNIPROT In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2. 12542527 2003
dbSNP: rs121912737
rs121912737
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0265971
Disease:
Acrokeratosis Verruciformis of Hopf 		T 0.830 CausalMutation CLINVAR
dbSNP: rs121912734
rs121912734
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		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
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		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
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		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
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		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
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.810 GeneticVariation UNIPROT Spectrum of novel ATP2A2 mutations in patients with Darier's disease. 10441323 1999
dbSNP: rs121912734
rs121912734
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.810 GeneticVariation UNIPROT Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. 10080178 1999
dbSNP: rs121912734
rs121912734
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.810 GeneticVariation UNIPROT ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. 10441325 1999
dbSNP: rs121912734
rs121912734
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121912738
rs121912738
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.800 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: rs121912738
rs121912738
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.800 GeneticVariation UNIPROT Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease. 19995371 2010
dbSNP: rs121912738
rs121912738
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.800 GeneticVariation UNIPROT Spectrum of novel ATP2A2 mutations in patients with Darier's disease. 10441323 1999
dbSNP: rs121912738
rs121912738
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.800 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: rs121912738
rs121912738
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.800 GeneticVariation UNIPROT ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. 10441325 1999
dbSNP: rs121912738
rs121912738
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.800 GeneticVariation UNIPROT Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. 10080178 1999
dbSNP: rs121912738
rs121912738
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28929478
rs28929478
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28929478
rs28929478
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.800 GeneticVariation UNIPROT
dbSNP: rs387906594
rs387906594
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0265971
Disease:
Acrokeratosis Verruciformis of Hopf 		0.710 GeneticVariation BEFREE This mutation and a heterozygous A698V were previously described in AKV. 22814319 2012
dbSNP: rs387906594
rs387906594
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0265971
Disease:
Acrokeratosis Verruciformis of Hopf 		T 0.710 CausalMutation CLINVAR
dbSNP: rs3026433
rs3026433
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0236773
Disease:
Depressed bipolar I disorder 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019