Disorder "Camurati-Engelmann disease"
Found 1 record
Disorder information
Disorder name:
Camurati-Engelmann disease
Disoder ID:
OMIM entry:
Synonyms:
Diaphyseal dysplasia, progressive diaphyseal dysplasia, Engelman's disease
Definition:
An osteosclerosis that has_material_basis_in mutations in the tgfb1 gene which results_in increased bone density located_in long bone.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
TNFSF11 | TNFSF11:rs138818878 | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The polymorphism is associated with the disease severity.more | more |
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