Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.750 GeneticVariation disease BEFREE Thus, the brachydactyly type A2 phenotype (L441P) is caused by inhibition of the ligand-receptor interaction, whereas the symphalangism phenotype (R438L) is caused by a loss of receptor-binding specificity, resulting in a gain of function by the acquisition of BMP2-like properties. 16127465 2005
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.010 GeneticVariation disease BEFREE They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively. 16127465 2005
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.760 GeneticVariation disease UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.760 GermlineCausalMutation disease ORPHANET Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.950 Biomarker disease GENOMICS_ENGLAND A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 2703235 1989
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.950 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.950 Biomarker disease MGD
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.950 Biomarker disease CTD_human
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.950 Biomarker disease HPO
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.950 CausalMutation disease CLINVAR
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.760 CausalMutation disease CLINVAR
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.760 Biomarker disease HPO
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.760 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.760 Biomarker disease CTD_human
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.750 Biomarker disease HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.750 Biomarker disease CTD_human
Entrez Id: 1758
Gene Symbol: DMP1
DMP1 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 554250
Gene Symbol: GDF5-AS1
GDF5-AS1 		0.100 CausalMutation disease CLINVAR