| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | Biomarker | disease | BEFREE | Sclerosteosis and van Buchem disease (VBD) are two rare autosomal recessive disorders that results from osteoblast hyperactivity, in which progressive bone overgrowth leads to very dense bones, distortion of the face, and entrapment of cranial nerves. | 29080811 | 2018 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | Forced expression of human SOST from a Dmp1 promoter fragment partially rescues preosteoblast hyperproliferation and cancellous bone overgrowth in the Bmpr1a mutant mice, demonstrating functional interaction between Bmp and Wnt signaling in the cancellous bone compartment. | 28607813 | 2017 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | In addition, expression of SOST is delayed or suppressed; resulting in active WNT signaling and enhanced periosteal bone formation, and the combined outcome is generalized hyperostosis. | 28973168 | 2017 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | Lack of SOST expression is the cause for the progressive bone overgrowth disorders sclerosteosis and Van Buchem disease. | 17696759 | 2007 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. | 15869924 | 2005 | ||||
|
0.080 | Biomarker | disease | BEFREE | Our findings suggest that SOST is an antagonist for Wnt signaling and that the loss of SOST function likely leads to the hyperactivation of Wnt signaling that underlies bone overgrowth seen in sclerosteosis patients. | 15908424 | 2005 | ||||
|
0.080 | Biomarker | disease | BEFREE | Sclerosteosis is a member of the family of genetic craniotubular hyperostoses. | 11570544 | 2001 | ||||
|
0.080 | Biomarker | disease | BEFREE | Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. | 10330353 | 1999 |