SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549159
Disease: Infant Death
Infant Death
0.300 Biomarker phenotype CTD_human Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. 27111068 2016