UBAP1, ubiquitin associated protein 1, 51271

N. diseases: 29; N. variants: 2
Disease: Spastic paraplegia 10, autosomal dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.010 GeneticVariation disease BEFREE Our study provides genetic and biochemical evidence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia. 31203368 2019