SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908511
rs121908511
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 CausalMutation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366 2016
dbSNP: rs121908518
rs121908518
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 CausalMutation CLINVAR Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 27084228 2016
dbSNP: rs1553317025
rs1553317025
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 GeneticVariation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366 2016
dbSNP: rs864622162
rs864622162
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131 2016
dbSNP: rs878854991
rs878854991
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		A 0.800 CausalMutation CLINVAR A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 27260292 2016
dbSNP: rs121908511
rs121908511
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 CausalMutation CLINVAR Multimodal MRI-based study in patients with SPG4 mutations. 25658484 2015
dbSNP: rs121908511
rs121908511
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 CausalMutation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798 2015
dbSNP: rs121908509
rs121908509
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908510
rs121908510
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908511
rs121908511
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908512
rs121908512
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908513
rs121908513
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908514
rs121908514
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908516
rs121908516
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908518
rs121908518
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs121908518
rs121908518
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 CausalMutation CLINVAR Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. 24381312 2014
dbSNP: rs1553317025
rs1553317025
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs1553317025
rs1553317025
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 GeneticVariation CLINVAR Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380 2014
dbSNP: rs1553317025
rs1553317025
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		T 0.800 GeneticVariation CLINVAR Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs1553318238
rs1553318238
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs587777757
rs587777757
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs863224923
rs863224923
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs864622162
rs864622162
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs864622179
rs864622179
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs878854990
rs878854990
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014