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: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 24562058 2014
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 24562058 2014
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. 12601111 2003
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. 12601111 2003
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: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. 12145748 2002
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. 12145748 2002
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 11586297 2001
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 11586297 2001
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479 1992
dbSNP: rs767350733
rs767350733
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479 1992
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: rs202219507
rs202219507
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1263857
Disease:
Peripheral axonal neuropathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs369577952
rs369577952
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1853396
Disease:
Primary lateral sclerosis juvenile 		C 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: rs369577952
rs369577952
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1859807
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		C 0.700 CausalMutation CLINVAR