Disorder "Neurofibromas"
Found 2 records
Disorder information
Disorder name:
Neurofibromas
Disoder ID:
Synonyms:
Neurofibromatosis, Neurofibromata
Definition:
The presence of multiple cutaneous neurofibromas.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered gene activity(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| COMT | COMT:c.472G>A(p.Val158Met) | Expressivity | Risk factor | Z=2.58, P=0.030, r = 0.44 | A significant association of the COMT polymorphism was observed only with verbal working memorymore | more |
| CDKN2B-AS1 | CDKN2B-AS1:n.846+1734G>A | Expressivity | Altered gene activity | P<0.001 | The allele T of rs2151280 was statistically significantly associated with reduced ANRIL transcript levels (P < 0.001), suggesting that modulation of ANRIL expression mediates PNF susceptibility.more | more |
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