Disease: Keratosis Follicularis ×
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: C0022595
Disease:
Keratosis Follicularis 		0.020 GeneticVariation BEFREE Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. 28498512 2017
dbSNP: rs121912737
rs121912737
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease:
Keratosis Follicularis 		0.020 GeneticVariation BEFREE Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. 22814319 2012