Disorder "Gaucher's Disease Type I"
Found 2 records
Disorder information
Disorder name:
Gaucher's Disease Type I
Disoder ID:
OMIM entry:
Synonyms:
Gba Deficiency, Acid Beta-Glucosidase Deficiency, Glucocerebrosidase Deficiency, GD I, Gaucher Disease, Noncerebral Juvenile
Definition:
A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22.?
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
UGCG | UGCG:c.-232_-241ins10 | Expressivity | Altered severity | P<0.05 | The c.-232_-241ins10 and c.98+50A>G variants are modifying factors of Gaucher disease severity,more | more |
UGCG:c.98+50A>G | Expressivity | Altered severity | P<0.05 | The c.-232_-241ins10 and c.98+50A>G variants are modifying factors of Gaucher disease severity,more | more |
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