Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spastic Paraplegia, Optic Atrophy, and Neuropathy
0.040 Biomarker disease BEFREE Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. 31656170 2019
Spastic Paraplegia, Optic Atrophy, and Neuropathy
0.040 Biomarker disease BEFREE SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). 26385635 2015
Spastic Paraplegia, Optic Atrophy, and Neuropathy
0.040 Biomarker disease BEFREE SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. 24123118 2014
Spastic Paraplegia, Optic Atrophy, and Neuropathy
0.040 Biomarker disease BEFREE We propose the acronym SPOAN (spastic paraplegia, optic atrophy, and neuropathy) for this complex syndrome. 15852396 2005