Disorder "Abnormal Thrombosis"
Found 1 record
Disorder information
Disorder name:
Abnormal Thrombosis
Disoder ID:
Definition:
Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered prothrombotic predisposition(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| B4GALNT2 | B4GALNT2:p.Asn560* | Expressivity | Altered prothrombotic predisposition | Study on mouse strains | R504Q mutation resulting mice exhibit a mild prothrombotic predisposition, very similar to the human phenotypemore | more |
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