Disease: Keratosis Follicularis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912736
rs121912736
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		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: rs121912736
rs121912736
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.700 GeneticVariation UNIPROT Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease. 19995371 2010
dbSNP: rs121912736
rs121912736
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.700 GeneticVariation UNIPROT Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. 10080178 1999
dbSNP: rs121912736
rs121912736
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.700 GeneticVariation UNIPROT ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. 10441325 1999
dbSNP: rs121912736
rs121912736
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.700 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: rs121912736
rs121912736
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.700 GeneticVariation UNIPROT Spectrum of novel ATP2A2 mutations in patients with Darier's disease. 10441323 1999