Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2117
Gene Symbol: ETV3
ETV3
0.010 Biomarker disease BEFREE The limited tolerance to the exercise in SK patients was reflected by a shorter duration of the exercise test and a lower energy cost measured in METS (metabolic equivalents) as compared to healthy controls. 30025996 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS
0.010 Biomarker disease BEFREE Were excluded patients who did not allow EOS with a viewable cervical spine due to hyperkyphosis. 29396766 2018
Entrez Id: 5827
Gene Symbol: PXMP2
PXMP2
0.010 GeneticVariation disease BEFREE Of these, 58% demonstrated scoliosis, 31% had kyphoscoliosis, and 11% had thoracic hyperkyphosis; 73% of patients with spinal deformity were classified as HMSN Type I with confirmed duplication of the PMP 22 (peripheral myelin protein) gene on chromosome 17. 18090092 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.010 GeneticVariation disease BEFREE Of these, 58% demonstrated scoliosis, 31% had kyphoscoliosis, and 11% had thoracic hyperkyphosis; 73% of patients with spinal deformity were classified as HMSN Type I with confirmed duplication of the PMP 22 (peripheral myelin protein) gene on chromosome 17. 18090092 2007