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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease RGD Differential expression of procollagen lysine 2-oxoglutarate 5-deoxygenase and matrix metalloproteinase isoforms in hypothyroid rat ovary and disintegration of extracellular matrix. 15817667 2005
CUI: C0086543
Disease: Cataract
Cataract 		0.110 Biomarker disease BEFREE We propose that plod3 and col4a5 mutant zebrafish can serve as useful models for better understanding the biology of LECs during embryonic development and in formation of lens epithelium-derived cataract. 31669351 2020
CUI: C0086543
Disease: Cataract
Cataract 		0.110 Biomarker disease HPO
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993 2011
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0155760
Disease: Rupture of artery
Rupture of artery 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0277959
Disease: Coarse hair
Coarse hair 		0.100 Biomarker phenotype HPO
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker disease HPO