Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Runx2 deficiency in mice causes decreased thyroglobulin expression and hypothyroidism. 20375239

2010

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD However, distinct RUNX2 mutations in CCD do not correlate with the severity of the disease. 19028669

2009

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Impaired skin and hair follicle development in Runx2 deficient mice. 18262513

2008

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD These results establish GSK-3beta as a key attenuator of Runx2 activity in bone formation and as a potential molecular target for clinical treatment of bone catabolic disorders like cleidocranial dysplasia. 17786208

2007

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Maturational disturbance of chondrocytes in Cbfa1-deficient mice. 10213384

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Excessive extramedullary hematopoiesis in Cbfa1-deficient mice with a congenital lack of bone marrow. 10049712

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Morphological characterization of skeletal cells in Cbfa1-deficient mice. 10593408

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. 9182763

1997

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. 9182764

1997