Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		0.110 GeneticVariation disease BEFREE A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. 29891876 2018
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.110 Biomarker disease BEFREE Heterozygous CBP-deficient mice, which had truncated CBP protein (residues 1-1084) containing the CREB-binding domain (residues 462-661), showed clinical features of RTS, such as growth retardation (100%), retarded osseous maturation (100%), hypoplastic maxilla with narrow palate (100%), cardiac anomalies (15%) and skeletal abnormalities (7%). 9949198 1999
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.110 Biomarker disease HPO
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		0.110 Biomarker disease HPO
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2 		0.100 Biomarker disease HPO
Entrez Id: 1739
Gene Symbol: DLG1
DLG1 		0.100 Biomarker disease HPO
Entrez Id: 990
Gene Symbol: CDC6
CDC6 		0.100 Biomarker disease HPO
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		0.100 Biomarker disease HPO
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP 		0.100 Biomarker disease HPO
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.100 Biomarker disease HPO
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3930
Gene Symbol: LBR
LBR 		0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker disease HPO
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.100 Biomarker disease HPO
Entrez Id: 1009
Gene Symbol: CDH11
CDH11 		0.100 Biomarker disease HPO
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.100 Biomarker disease HPO
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3590
Gene Symbol: IL11RA
IL11RA 		0.100 Biomarker disease HPO
Entrez Id: 7341
Gene Symbol: SUMO1
SUMO1 		0.100 Biomarker disease HPO
Entrez Id: 26277
Gene Symbol: TINF2
TINF2 		0.100 Biomarker disease HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.100 Biomarker disease HPO
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker disease HPO