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 		0.250 GeneticVariation disease BEFREE Pathogenic variants in the lysyl-hydroxylase-1 gene (PLOD1) are responsible for the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS). 29982180 2018
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.250 GeneticVariation disease BEFREE We describe a child with the kyphoscoliotic type of the Ehlers-Danlos syndrome with a novel mutation of the PLOD1 gene. 25266621 2014
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.250 Biomarker disease BEFREE The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. 21699693 2011
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.250 GeneticVariation disease BEFREE 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 		0.250 GeneticVariation disease BEFREE Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). 11157981 2001
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.250 Biomarker disease MGD