PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 Biomarker disease BEFREE We also started treatment with riociguat because we speculated she had a component of SSc-PAH and that immunosuppressive therapy alone may be insufficient. 31183306 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 GeneticVariation disease BEFREE Patients with pulmonary arterial hypertension associated with connective tissue disease (PAH-PAH-CTD) such as systemic sclerosis (SSc) have a poorer response to treatment and increased mortality compared with patients with idiopathic PAH. 28671485 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 Biomarker disease BEFREE Twenty-nine patients (31.2%) had RHC-proven PH; of those 29 patients, 24.1% had PAH, 55.2% had World Health Organization (WHO) Group III PH, 34.5% had WHO Group III PH with pulmonary vascular resistance >3.0 Wood units, 48.3% had a PH diagnosis within 7 years of SSc onset, 82.8% received therapy for ILD, and 82.8% received therapy for PAH. 30762947 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 GeneticVariation disease BEFREE Among conventional risk factors for PAH, decreased DLCO may predict mPAP > 20 mmHg with priority in SSc patients. 31280357 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 Biomarker disease BEFREE In this cross-sectional study, four groups were selected from the Australian Scleroderma Cohort Study: group 1 (n = 15) had definite PAH; group 2 (n = 19) had interstitial lung disease (ILD); group 3 (n = 30) were SSc-controls; and group 4 (n = 34) were healthy controls. 29687288 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 Biomarker disease BEFREE This was a post hoc analysis of patients with CTD-PAH and SSc-PAH from AMBITION, an event-driven, double-blind trial in patients with WHO functional class II/III PAH. 28039187 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 Biomarker disease BEFREE The sensitivity and specificity for SSc-PAH detection using baseline BNP≥64 pg/mL was 71% and 59%; and for NT-proBNP≥210 pg/mL, 73% and 78%. 27908301 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.170 Biomarker disease HPO