Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
0.040 GeneticVariation disease BEFREE In the past 6 years, additional pathways involved in PAH susceptibility have been described through the identification of deleterious genetic variants in potassium channels (KCNK3 and ABCC8) and transcription factors (TBX4 and SOX17), among others. 31406341 2020
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
0.040 GeneticVariation disease BEFREE Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. 30527956 2019
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
0.040 Biomarker disease BEFREE Replication in other PAH cohorts and further characterization of the clinical phenotype will be important to confirm the precise role of SOX17 and better estimate the contribution of genes regulated by SOX17. 30029678 2018
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
0.040 GeneticVariation disease BEFREE We demonstrate familial segregation of mutations in SOX17 and AQP1 with PAH. 29650961 2018