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
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.620 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: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.620 GeneticVariation disease BEFREE 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: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.620 GeneticVariation disease BEFREE Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 25669657 2015
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.620 Biomarker disease CTD_human Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 25669657 2015
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.620 Biomarker disease HPO
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 27068007 2016
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.600 GeneticVariation disease UNIPROT Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 27068007 2016
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.600 CausalMutation disease CLINVAR
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.410 Biomarker disease CTD_human New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. 25899461 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.410 GeneticVariation disease BEFREE Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 19344874 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.410 Biomarker disease CTD_human Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 19344874 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.410 Biomarker disease HPO
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.400 GeneticVariation disease GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745 2019
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.400 Biomarker disease CTD_human Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069 2018
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.400 GeneticVariation disease GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069 2018
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.400 Biomarker disease CTD_human New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. 25899461 2015