Disease: Hereditary spastic paralysis, infantile onset ascending ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908139
rs121908139
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		0.710 GeneticVariation BEFREE Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. 18523452 2008
dbSNP: rs121908139
rs121908139
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		A 0.710 CausalMutation CLINVAR
dbSNP: rs386134175
rs386134175
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		G 0.700 CausalMutation CLINVAR Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. 12145748 2002
dbSNP: rs1060503672
rs1060503672
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121908137
rs121908137
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908138
rs121908138
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553511680
rs1553511680
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		A 0.700 CausalMutation CLINVAR
dbSNP: rs369577952
rs369577952
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		C 0.700 CausalMutation CLINVAR
dbSNP: rs386134181
rs386134181
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		C 0.700 CausalMutation CLINVAR
dbSNP: rs386134183
rs386134183
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		A 0.700 CausalMutation CLINVAR
dbSNP: rs386134187
rs386134187
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		A 0.700 CausalMutation CLINVAR
dbSNP: rs386134188
rs386134188
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387906316
rs387906316
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777132
rs587777132
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878855058
rs878855058
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C2931441
Disease:
Hereditary spastic paralysis, infantile onset ascending 		C 0.700 CausalMutation CLINVAR