NOP56, NOP56 ribonucleoprotein, 10528

N. diseases: 64; N. variants: 1
Disease: Motor neuron atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 GeneticVariation disease BEFREE Spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature of RNA foci formation in postmortem tissues. 28918022 2017