Disease: Verloes Bourguignon syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 GeneticVariation disease BEFREE Another patient with a novel homozygous splice site acceptor (c.1721-2A>G) mutation in LTBP3 was affected with dental anomalies and short stature (DASS). 30887145 2019
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 Biomarker disease GENOMICS_ENGLAND This mouse model demonstrates phenotypic overlap with Verloes Bourguignon syndrome, also caused by mutation of LTBP3, which is hallmarked by craniofacial anomalies and amelogenesis imperfecta phenotypes. 28084688 2017
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 Biomarker disease GENOMICS_ENGLAND Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 25669657 2015
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 Biomarker disease MGD Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 25669657 2015
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 GermlineCausalMutation disease ORPHANET Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 25669657 2015
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 Biomarker disease MGD E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. 20530870 2010
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 Biomarker disease MGD Bone defects in latent TGF-beta binding protein (Ltbp)-3 null mice; a role for Ltbp in TGF-beta presentation. 12379497 2002
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 Biomarker disease MGD Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability. 11790802 2002
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		0.810 CausalMutation disease CLINVAR