Disorder "Osteogenesis Imperfecta"
Found 1 record
Disorder information
Disorder name:
Osteogenesis Imperfecta
Disoder ID:
OMIM entry:
Synonyms:
Lobstein's syndrome,Osteopsathyrosis,Vrolik's disease,brittle bone disease,Fragilitas ossium
Definition:
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| COL1A2 | COL1A2:p.Arg618Gln | Expressivity | Risk factor | Gene activity study | The R618Q proalpha2(I)collagen variant is a modifier of connective tissue structure/function and is potentially involved in disease pathogenesis.more | more |
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