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:
Gene:
Variant:
Reference:
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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