Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.110 GeneticVariation disease BEFREE Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity. 31630374 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.110 Biomarker disease HPO