SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Hereditary Autosomal Dominant Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		0.100 GeneticVariation disease BEFREE Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. 15841487 2005
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		0.100 GeneticVariation disease BEFREE A total of eight loci for autosomal dominant hereditary spastic paraplegia (ADHSP) has been mapped to chromosome 14q, 2p, 15q, 8q, 10q, 12q, 19q, 2q, respectively, among which the SPG4 gene on chromosome 2p21-22 encoding spastin, an ATPase of the AAA family, accounts for 40-50% of all ADHSP families and is expressed in both adult and fetal tissues. 12736085 2003
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		0.100 GeneticVariation disease BEFREE SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). 17895902 2007
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		0.100 GeneticVariation disease BEFREE Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most common form of autosomal dominant hereditary spastic paraplegia. 12124993 2002