Disorder "Charcot-Marie-Tooth Disease"
Found 3 records
Disorder information
Disorder name:
Charcot-Marie-Tooth Disease
Disoder ID:
OMIM entry:
Synonyms:
CMT - Charcot-Marie-Tooth disease
Definition:
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
Modifier statisitcs
Record:
3
Gene:
2
Variant:
2
Reference:
2
Effect type:
Expressivity(2)
,Pleiotropy(1)
Modifier effect:
Altered severity(2)
,Altered phenotype(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MIR149 | MIR149:n.86T>C | Pleiotropy | Altered phenotype | Assessment of genotype–phenotype associations | We suggest that the rs2292832 variant in the miR-149 is a potential candidate as a genetic modifier which affects the phenotypic heterogeneity of CMT1A.more | more |
| JPH1 | JPH1:rs201314759 | Expressivity | Altered severity | P<0.05 | JPH1 can contribute to the phenotypical consequences of GDAP1 mutations.more | more |
| JPH1:rs201314759 | Expressivity | Altered severity | P<0.05 | The combination of GDAP1(p.R120W) and JPH1(p.R213P) dramatically reduces the store-operated Ca(2+) entry activitymore | more |
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