Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.110 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.110 Biomarker disease BEFREE In 2015-2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. 31402623 2019