Disorder "Polycythemia Vera"
Found 1 record
Disorder information
Disorder name:
Polycythemia Vera
Disoder ID:
OMIM entry:
Synonyms:
Osler-Vaquez syndrome,Polycythaemia rubra vera,Proliferative polycythaemia
Definition:
A primary polycythemia and a myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered degree of myeloproliferation and myeloid metaplasia(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| JAK2 | JAK2:c.1641+779C>G | Expressivity | Altered degree of myeloproliferation and myeloid metaplasia | P<0.03 | The JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC)more | more |
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