Disorder "Congenital disorder of glycosylation"
Found 1 record
Disorder information
Disorder name:
Congenital disorder of glycosylation
Disoder ID:
OMIM entry:
Synonyms:
carbohydrate-deficient glycoprotein syndrome
Definition:
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
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 |
|---|---|---|---|---|---|---|
| ALG6 | ALG6:rs35383149 | Expressivity | Altered severity | Gene activity study | This alteration is as severe as the most common disease-causing mutationmore | more |
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