Disorder "Abnormal Lung Morphology"
Found 4 records
Disorder information
Disorder name:
Abnormal Lung Morphology
Disoder ID:
Definition:
Any structural anomaly of the lung.
Modifier statisitcs
Record:
4
Gene:
4
Variant:
4
Reference:
3
Effect type:
Expressivity(3)
,Penetrance(1)
Modifier effect:
Altered gene activity and Altered severity(1)
,Altered incidence(1)
,Altered onset time(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SLC9A3 | SLC9A3:c.211+3131G>A | Expressivity | Altered onset time | P=0.02 | The T allele of an intronic variant in the SLC9A3 gene (rs4957061) was significantly (P=0.02) associated with earlier acquisition of Pseudomonas infection in a cohort of 1,004 pediatric patients.more | more |
| MBL2 | MBL2:c.-619C>G | Expressivity | Risk factor | P=0.022, OR=2.87, 95% CI: 1.14-7.27 | The MBL2 allele rs11003125 (MBL2-550; P=0.022, Odds Ratio (OR) 2.87, 95% CI 1.14-7.27) was significantly associated with CF patients as risk factor。more | more |
| AGER | AGER:c.-429T>C | Expressivity | Altered gene activity and Altered severity | P=0.03 | The functional promoter AGER -429C variant is associated with an increased RAGE expression that can lead to an increased lung inflammation and a more severe lung disease.more | more |
| ADRB2 | ADRB2:c.46A>G(p.Arg16Gly) | Penetrance | Altered incidence | P=0.005, OR=0.37, 95% CI: 0.19-0.75 | The ADRB2 allele rs1042713 (p.Arg16Gly; P=0.005, Odds Ratio (OR) 0.37, 95% CI 0.19-0.75) was significantly associated with CF patients as protect factormore | more |
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