Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
0.100 CausalMutation disease CLINVAR Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. 24808020 2014
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
0.100 CausalMutation disease CLINVAR First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. 16712870 2006
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
0.100 CausalMutation disease CLINVAR Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000