SMN2, survival of motor neuron 2, centromeric, 6607

N. diseases: 299; N. variants: 35
Disease: Spinal Muscular Atrophies of Childhood ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		0.510 Biomarker disease MGD A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. 20705738 2010
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		0.510 GeneticVariation disease LHGDN Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene. 15305106 2004
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		0.510 Biomarker disease CTD_human