Gene: PLOD1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 Biomarker disease GENOMICS_ENGLAND Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype. 25277362 2015
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease BEFREE A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation. 25266621 2014
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GermlineCausalMutation disease ORPHANET Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 15979919 2006
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease UNIPROT Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 15979919 2006
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease UNIPROT A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. 15854030 2005
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 Biomarker disease CTD_human Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 15666309 2005
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 Biomarker disease GENOMICS_ENGLAND Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 15666309 2005
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease UNIPROT Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 15666309 2005
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease BEFREE Skin fibroblasts from the majority of patients with the clinical diagnosis of Ehlers-Danlos syndrome type VI (EDS VI; kyphoscoliosis type), have significantly decreased lysyl hydroxylase (LH) activity due to mutations in the LH1 gene (classified as EDS VIA: OMIM no.225400). 15523625 2004
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 AlteredExpression disease BEFREE Transfection of human type VI Ehlers-Danlos syndrome fibroblasts (about 20% of normal lysyl hydroxylase 1 activity) with the vector increased lysyl hydroxylase 1 activity in these cells to near or greater levels than that of wild type, unaffected fibroblasts. 11286629 2001
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 AlteredExpression disease BEFREE Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. 10686424 2000
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 CausalMutation disease CLINVAR Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. 10874315 2000
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease BEFREE Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 11001813 2000
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease BEFREE Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. 10874315 2000
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease UNIPROT Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. 10686424 2000
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease BEFREE A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 10329027 1999
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 CausalMutation disease CLINVAR A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 10329027 1999
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease UNIPROT Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). 9617436 1998
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 CausalMutation disease CLINVAR Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene. 9220536 1997
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease UNIPROT A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. 8163671 1994
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 Biomarker disease GENOMICS_ENGLAND A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. 8163671 1994
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 Biomarker disease GENOMICS_ENGLAND A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. 8449506 1993
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.770 GeneticVariation disease CLINVAR