Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 Biomarker disease BEFREE Our findings indicate that a loss of Sig1R function is causative for ALS16, and collapse of the MAM is a common pathomechanism in both Sig1R- and SOD1-linked ALS Furthermore, our discovery of the selective enrichment of IP<sub>3</sub>R3 in motor neurons suggests that integrity of the MAM is crucial for the selective vulnerability in ALS. 27821430 2016
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 Biomarker disease GENOMICS_ENGLAND Our findings indicate that a loss of Sig1R function is causative for ALS16, and collapse of the MAM is a common pathomechanism in both Sig1R- and SOD1-linked ALS Furthermore, our discovery of the selective enrichment of IP<sub>3</sub>R3 in motor neurons suggests that integrity of the MAM is crucial for the selective vulnerability in ALS. 27821430 2016
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 Biomarker disease GENOMICS_ENGLAND A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. 26078401 2015
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 Biomarker disease GENOMICS_ENGLAND A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. 21842496 2011
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 GeneticVariation disease UNIPROT A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. 21842496 2011
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 GeneticVariation disease CLINVAR
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
0.710 Biomarker disease CTD_human