Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 GeneticVariation disease BEFREE In contrast, dominant-negative BMPR1B mutations described previously are associated with autosomal-dominant brachydactyly-type A2. 24129431 2014
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 GeneticVariation disease BEFREE Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5). 19327734 2009
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 Biomarker disease GENOMICS_ENGLAND Brachydactyly type A2 associated with a defect in proGDF5 processing. 18203755 2008
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 GeneticVariation disease UNIPROT Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682 2006
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 GeneticVariation disease BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682 2006
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 AlteredExpression disease BEFREE GDF5 is a novel BDA2 causing gene.It is suggested that impaired activity of BMPR1B is the molecular mechanism responsible for the BDA2 phenotype. 16014698 2006
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 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
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 GeneticVariation disease BEFREE This mutation is expected to result in a loss of function and is thus different from the heterozygous missense mutations in BMPR1B recently shown to cause brachydactyly type A2 through a dominant negative effect. 15805157 2005
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 GeneticVariation disease UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 GermlineCausalMutation disease ORPHANET Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 CausalMutation disease CLINVAR
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 Biomarker disease HPO
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 Biomarker disease CTD_human
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 GeneticVariation disease UNIPROT Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 25758993 2015
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 Biomarker disease CTD_human
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 CausalMutation disease CLINVAR
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 GeneticVariation disease UNIPROT A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 26105076 2015
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 GeneticVariation disease UNIPROT Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. 24129431 2014
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 GeneticVariation disease UNIPROT A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. 15805157 2005
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 CausalMutation disease CLINVAR
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		0.410 GeneticVariation disease ORPHANET Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype. 16957682 2006