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:
4
Gene:
3
Variant:
4
Reference:
4
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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