Source: ORPHANET

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 GermlineCausalMutation ORPHANET A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease. 23621824

2014
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GermlineCausalMutation ORPHANET We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. 23356892

2013
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 GermlineCausalMutation ORPHANET The results will contribute to the expanding database of ATP2A2 mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families. 22909361

2012