BMPER, BMP binding endothelial regulator, 168667

N. diseases: 75; N. variants: 12
Disease: Diaphanospondylodysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 GeneticVariation disease CLINVAR Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder. 30006055 2019
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 GeneticVariation disease BEFREE ISD is similar to, but milder than the lethal/semilethal condition termed diaphanospondylodysostosis (DSD), which is associated with homozygous or compound heterozygous mutations of bone morphogenetic protein-binding endothelial regulator protein (BMPER) gene. 26728142 2016
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 GeneticVariation disease BEFREE A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). 21990102 2011
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 GermlineCausalMutation disease ORPHANET A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). 21990102 2011
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 GermlineCausalMutation disease ORPHANET BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. 20869035 2010
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 Biomarker disease GENOMICS_ENGLAND BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. 20869035 2010
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 GeneticVariation disease UNIPROT BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. 20869035 2010
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 GeneticVariation disease BEFREE BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. 20869035 2010
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 CausalMutation disease CLINVAR
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		0.730 Biomarker disease CTD_human