Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Whole exome sequencing in patients with white matter abnormalities. 27159321

2016
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 24562058

2014
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. 12601111

2003
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. 12145748

2002
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 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
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479

1992