Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479 1992