Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 Biomarker disease BEFREE Our results demonstrate that ELP3 is a modifier of ALS and suggest a link between tRNA modification and neurodegeneration. 29415125 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation disease BEFREE Two SNPs located in genes that were implicated by previous GWA studies of ALS were marginally significant in the pooled analysis of discovery and replication samples: rs17174381 in DPP6 (p = 4.4×10(-4)) and rs6985069 near ELP3 (p = 4.8×10(-4)). 22470424 2012
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 Biomarker disease BEFREE Accordingly, misregulation of Elp3 has been implicated in human disorders that specifically affect neuronal function, including familial dysautonomia, a disease characterized by degeneration of the sensory and autonomic nervous system, and the motor neuron degenerative disorder amyotrophic lateral sclerosis. 20626565 2010
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation disease LHGDN Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. 18996918 2009