Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.020 GeneticVariation disease BEFREE Loss of one functional copy of the SPCA1 (ATP2C1) gene causes Hailey-Hailey disease, a skin disorder arising in the adult age with recurrent vesicles and erosions in the flexural areas. 15336968 2004
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.020 Biomarker disease BEFREE ATP2C1, encoding the human secretory pathway Ca2+/Mn2+ ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey Disease (HHD), an autosomal dominant skin disorder characterized by persistent blisters and erosions. 12707275 2003