Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation 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
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation UNIPROT Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease. 19995371

2010
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation UNIPROT Our findings confirm that mutations in ATP2A2 are associated with DD. 10441325

1999
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation UNIPROT Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotype correlations. 10441323

1999
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation UNIPROT The cause of DD was shown recently to be mutation in the ATP2A2 gene at 12q24.1, which encodes the sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). 10441324

1999
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GeneticVariation UNIPROT Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis. 10080178

1999