Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. 27601211 2016
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 GeneticVariation disease BEFREE A combination of linkage analysis with homozygosity mapping and targeted sequencing identified two novel ALS2 mutations, a c.194T > C (p.Phe65Ser) missense substitution located in the first RCC-like domain of ALS2/alsin and a c.2998delA (p.Ile1000*) nonsense mutation. 26751646 2016
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 GeneticVariation disease BEFREE Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP). 24315819 2014
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. 23881933 2013
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 GeneticVariation disease BEFREE Conversely, consistent with our previous study using B6 lines, lack of Als2, a murine homolog for the recessive juvenile ALS causative gene, in FVB congenic SOD1(H46R), but not SOD1(G93A), mice resulted in an earlier death, implying a genetic background-independent but mutation-dependent phenotypic modification. 22438926 2012
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease BEFREE Intriguingly, ALS2 was colocalized with LC3 and p62, and partly with SOD1 on autophagosome/endosome hybrid compartments, and loss of ALS2 significantly lowered the lysosome-dependent clearance of LC3 and p62 in cultured cells. 20339559 2010
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. 20018642 2009
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease BEFREE Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons. 17855450 2007
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease BEFREE Four ALS2-deficient mouse models have been generated by different groups and used to study the behavioral and pathological impact of alsin deficiency. 17955197 2007
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 GeneticVariation disease BEFREE We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553delA). 16240357 2005
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 GeneticVariation disease BEFREE These results suggest that deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS. 12866199 2003
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. 11586298 2001
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND 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
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 GeneticVariation disease BEFREE Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. 11586298 2001
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 GeneticVariation disease BEFREE The establishment of a YAC contig and transcript map that spans the region containing the ALS2 mutation is an essential step in the identification of the ALS2 gene. 9889004 1999
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease CTD_human
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 CausalMutation disease CLINVAR