SOX17, SRY-box transcription factor 17, 64321

N. diseases: 113; N. variants: 2
Disease: Associated Pulmonary Arterial Hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		0.020 Biomarker disease BEFREE This is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. 30527956 2019
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		0.020 GeneticVariation disease BEFREE Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. 30029678 2018