Table 3.

Summary of studies investigating ML methods applied for the treatment of rare diseases.

Disease	Methods	Data Type	Sample Size	Model Performance	References
Amyotrophic lateral sclerosis	IBM Watson®	RNA-binding proteins	1478	AUC: 0.935	[95]
Multiple diseases, exp. Gaucher disease	ANN	disease, gene, and drug data	7000	Hits@10: 0.454, MRR 0.231	[97]
Sialidosis	BM	disease targets and accessible bioactivity data	57	AUC: 0.737, PPV: 34.5%, TPR: 91%, TNR: 58.7%, F1: 50%	[98]
Duchenne muscular dystrophy	RF	PMO activity data	64	ACC:72%, PPV:75%, TPR:69%	[100]
Fanconi anemia	EL	gene expression data	>11,000	R2: 0.62–0.97	[101]
Alkaptonuria	RF	genetic, biochemical, histopathological, clinical, therapeutic resources, and QoL scores	129	ACC: 70%	[103]