Disease: Pyramidal sign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.110 GeneticVariation phenotype BEFREE The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment. 31796091 2019
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.110 Biomarker phenotype HPO