Disorder "Pulmonary Hypertension"
Found 25 records
Disorder information
Disorder name:
Pulmonary Hypertension
Disoder ID:
Definition:
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Modifier statisitcs
Record:
25
Gene:
16
Variant:
25
Reference:
2
Effect type:
Expressivity(25)
Modifier effect:
Risk factor(24)
,Altered susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ADRB1 | ADRB1:c.1165G>C(p.Gly389Arg) | Expressivity | Risk factor | P=0.006 | Genetic variation in the beta-1 adrenergic receptor (ADRB1) was also associated with pHTN in our dataset.more | more |
| ADCY6 | ADCY6:n.*933A>G | Expressivity | Risk factor | P=0.017 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more |
| ACVRL1 | ACVRL1:c.1246+826A>T | Expressivity | Risk factor | P=0.014 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more |
| ACVRL1:n.52293500G>A | Expressivity | Risk factor | P=0.02 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more | |
| ACKR1 | ACKR1:n.159182095C>T | Expressivity | Risk factor | P=0.014 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more |