Disorder "Spinal Muscular Atrophy"
Found 4 records
Disorder information
Disorder name:
Spinal Muscular Atrophy 
Disoder ID:
Definition:
Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(3) ,Penetrance(1)  
Modifier effect:
Altered severity(3) ,Altered incidence(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
SMN2 SMN2:rs121909192 Expressivity  Altered severity  Gene activity study  the change creates a new exonic splicing enhancer element and increases the amount of full-length transcripts, thus resulting in the less severe phenotypes.more more
SMN2:rs212216 Expressivity  Altered severity  Assessment of genotype–phenotype associations and gene activity study  The A-44G change markedly decreases the binding affinity of HuR, resulting in a moderate increase in exon 7 inclusion.more more
PLS3 PLS3 Penetrance  Altered incidence  Pedigree analysis  Prevention of diseasemore more
DCLK2 DCLK2:rs759398144 Expressivity  Altered severity  Pedigree analysis  The polymorphism is associated with the disease severity.more more
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