Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Acromesomelic dysplasia Hunter-Thompson type
0.340 Biomarker disease BEFREE It is also the first report of BMPR1B underlying the etiology of acromesomelic dysplasia Hunter-Thompson type. 29322508 2018
Acromesomelic dysplasia Hunter-Thompson type
0.340 GeneticVariation disease BEFREE Our findings show that also recessive complex digit malformation can be caused by BMPR1B variant and not all biallelic BMPR1B variants cause acromesomelic dysplasia. 29581481 2018
Acromesomelic dysplasia Hunter-Thompson type
0.340 Biomarker disease CTD_human It is also the first report of BMPR1B underlying the etiology of acromesomelic dysplasia Hunter-Thompson type. 29322508 2018
Acromesomelic dysplasia Hunter-Thompson type
0.340 GeneticVariation disease BEFREE Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia. 26926249 2016
Acromesomelic dysplasia Hunter-Thompson type
0.340 GeneticVariation disease BEFREE A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 26105076 2015