Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
0.030 Biomarker disease BEFREE In conclusion, BTMs in our CH patients indicated that most have abnormalities consistent with osteomalacia and many have mild secondary hyperparathyroidism; and the normalisation of TmP/GFR after total PTx in 2 cases of XLH remains unexplained, but possible causes are speculated. 30238432 2019
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
0.030 Biomarker disease BEFREE A negative correlation (p = 0.05) between osteoid thickness (O.Th) and renal tubular phosphate reabsorption (measured as TmP/GFR) was observed for lesional bone, but not for unaffected bone, in which no histological or histomorphometric evidence of osteomalacia was observed in patients with renal phosphate wasting. 12854833 2003
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
0.030 Biomarker disease BEFREE One patient (the father) had fasting hypophosphataemia (2.3-2.7 mg/100 ml; 0.74-0.87 mmol/l) and low TmP/GFR without osteomalacia or shortened stature. 7212758 1981