Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 GeneticVariation disease UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 GeneticVariation disease UNIPROT Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3. 30089812 2018
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 GeneticVariation disease UNIPROT A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. 18834968 2008
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. 18834968 2008
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. 18834968 2008
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 GermlineCausalMutation disease ORPHANET A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. 18834968 2008
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 GeneticVariation disease CLINVAR A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. 18834968 2008
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 CausalMutation disease CLINVAR
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.700 Biomarker disease CTD_human