Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2
0.010 Biomarker disease BEFREE Genetic mutations have been identified in the major motor neuron diseases, including ALS, spinal muscular atrophy, bulbospinal muscular atrophy (Kennedy's disease), the hereditary spastic paraplegias, and rarer conditions such as GM2 gangliosidosis (hexosaminidase A deficiency). 11460829 2001