Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.040 Biomarker disease BEFREE BMD = bone mineral density; MIM = Mendelian Inheritance in Man; OI = osteogenesis imperfecta; PDI = protein disulfide isomerase. 30913006 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.040 Biomarker disease BEFREE HR-pQCT revealed a significant reduction in volumetric BMD and microstructural parameters in the distal radius and tibia in both the OI and EOOP cohorts compared to the healthy controls. 29946973 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.040 Biomarker disease BEFREE BMD, recurrent peripheral fractures and/or vertebral compression fractures) but who lacked the clinical features of osteogenesis imperfecta (OI) or other known syndromes linked to low BMD.Also 51 controls were analyzed. 22487062 2012
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.040 Biomarker disease BEFREE A significant reduction of BMD was found in OI patients compared with normal relatives at the lumbar (L) spine (680 +/- 61 v 1,128 +/- 92 mg/cm2, P < .001), at the ultradistal radius ([UDR] 323 +/- 85 v 458 +/- 76, P < .006), at the femoral neck ([F] 494 +/- 140 v 791 +/- 104, P < .001), and at the junction of the distal and middle third of the radius ([MR] 639 +/- 71 v 717 +/- 52, P < .029).(ABSTRACT TRUNCATED AT 250 WORDS) 7934978 1994