Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.500 Therapeutic group RGD Insulin-dependent diabetes mellitus decreases osteoblastogenesis associated with the inhibition of Wnt signaling through increased expression of Sost and Dkk1 and inhibition of Akt activation. 21567076 2011
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.500 Therapeutic group CTD_human Effects of IGF-I treatment on osteopenia in rats with advanced liver cirrhosis. 11014614 2000
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 GeneticVariation group BEFREE In humans, recessive and dominant ALPL mutations cause hypophosphatasia (HPP), a metabolic bone disease with highly heterogeneous clinical manifestations, ranging from lethal perinatal hypomineralization to a relatively mild dental disease. 30700765 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 GeneticVariation group BEFREE Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene. 29236161 2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 Biomarker group CTD_human Skeletal Mineralization Deficits and Impaired Biogenesis and Function of Chondrocyte-Derived Matrix Vesicles in Phospho1(-/-) and Phospho1/Pi t1 Double-Knockout Mice. 26773408 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 AlteredExpression group BEFREE Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited metabolic bone disease also characterized by spontaneous seizures. 27466191 2016
Entrez Id: 162466
Gene Symbol: PHOSPHO1
PHOSPHO1
0.300 Biomarker group CTD_human Skeletal Mineralization Deficits and Impaired Biogenesis and Function of Chondrocyte-Derived Matrix Vesicles in Phospho1(-/-) and Phospho1/Pi t1 Double-Knockout Mice. 26773408 2016
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.300 Biomarker group CTD_human Skeletal Mineralization Deficits and Impaired Biogenesis and Function of Chondrocyte-Derived Matrix Vesicles in Phospho1(-/-) and Phospho1/Pi t1 Double-Knockout Mice. 26773408 2016
Entrez Id: 2638
Gene Symbol: GC
GC
0.300 Biomarker group CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
0.300 Biomarker group CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.300 Biomarker group CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.300 Biomarker group CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
0.300 Biomarker group CTD_human Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
0.300 Biomarker group CTD_human Osteopenia due to enhanced cathepsin K release by BK channel ablation in osteoclasts. 21695131 2011
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.300 Biomarker group CTD_human Impact on bone of an estrogen receptor-alpha gene loss of function mutation. 18505767 2008
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.300 Biomarker group CTD_human An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. 17986521 2008
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.300 Biomarker group CTD_human Type I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal development. 17440987 2007
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.300 Biomarker group CTD_human An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. 10052453 1999
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
0.210 Biomarker group RGD Insulin-dependent diabetes mellitus decreases osteoblastogenesis associated with the inhibition of Wnt signaling through increased expression of Sost and Dkk1 and inhibition of Akt activation. 21567076 2011
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
0.210 Biomarker group BEFREE DKK-1 may also play a role in osteoarthritis, metabolic bone disease (osteoporosis and Paget's disease), as well as multiple myeloma-associated bone disease and prostate cancer bone metastases. 21435697 2011
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
0.200 Therapeutic group RGD Insulin-dependent diabetes mellitus decreases osteoblastogenesis associated with the inhibition of Wnt signaling through increased expression of Sost and Dkk1 and inhibition of Akt activation. 21567076 2011
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.050 AlteredExpression group BEFREE Children having relapsing INS treated with steroids have higher levels of Scl and FGF-23 that can indicate the bone metabolism disorders. 31354894 2019
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.050 Biomarker group BEFREE Examples are included to illustrate the use of these approaches during the development of several drugs for metabolic bone diseases such as bisphosphonates, denosumab, teriparatide and sclerostin inhibitors (romosozumab and blosozumab). 30690761 2019
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.050 Biomarker group BEFREE Sclerostin neutralizing therapies are likely to benefit many patients with genetic disorders of bone, as well as other forms of metabolic bone disease. 27780792 2017
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.050 Biomarker group BEFREE Serum sclerostin concentrations are significantly elevated in critically ill patients, linked to renal or hepatic organ failure, and associated with bone resorption markers, supporting its value as a potential tool for the assessment of ICU-related metabolic bone disease. 27621111 2017