Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. 31004103

2019

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid Protein 1 (PLP1), encoding a major myelin protein, resulting in profound developmental delay and early lethality. 31585094

2019

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 AlteredExpression BEFREE The objective of this study was to identify therapeutic chemicals for PMD by quantifying the total levels and membrane localization of PLP1. 31110947

2019

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). 31818324

2019

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Together, our results provide evidence that AAV-mediated gene suppression therapy can serve as a potential cure for PMD resulting from PLP1 duplication and possibly for other genomic disorders. 31092737

2019

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE In this chapter, I discuss the historical aspects and current understanding of the mechanisms underlying how different PLP1 mutations disrupt the normal process of myelination and result in PMD and other disorders. 31760646

2019

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Additionally, a single intracerebroventricular injection of MO-PLP into the brains of neonatal mice, carrying a deletion of an intronic splicing enhancer identified in a PMD patient that reduces the Plp1 spliced form, corrected alternative splicing at both RNA and protein levels in the CNS. 30195779

2018

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE We detected a novel pathogenic PLP1 missense mutation c.251C > A (p.Ala84Asp) allowing us to make a diagnosis of Pelizaeus-Merzbacher Disease for this family. 29486744

2018

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease (PMD; MIM 312080), an inherited defect of central nervous system myelin formation, affects individuals in many ways, including their hearing and language abilities. 29725841

2018

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. 29478609

2018

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 Biomarker BEFREE The Plp1 overexpressing mouse model (PLP-tg<sup>66/66</sup> ) develops a phenotype very similar to human PMD, with early and severe motor dysfunction and a dramatic decrease in lifespan. 29027761

2018

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Alterations in the myelin proteolipid protein gene ( PLP1) may result in rare X-linked disorders in humans such as Pelizaeus-Merzbacher disease and spastic paraplegia type 2. 28735559

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Long-range polymerase chain reaction (PCR) is a traditional approach to obtain CNV breakpoint junction, but this method is inefficient when challenged by structural complexity such as often found at the PLP1 locus in association with Pelizaeus-Merzbacher disease (PMD). 28334874

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Collectively, these data provide insights into the pathogeneses of a variety of PLP1 mutations and suggest that disparate etiologies of PMD could require specific treatment approaches for subsets of individuals. 28366443

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutation in the proteolipid protein-1 (PLP1) gene, which encodes the proteolipid protein of myelinating oligodendroglia. 27882623

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 Biomarker BEFREE The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD). 28328133

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients. 27793435

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 Biomarker BEFREE This review discusses how PLP1 mutant proteins change protein homeostasis in the ER of oligodendrocytes, especially focusing on the reaction of ER chaperones against the accumulation of PLP1 mutant proteins that cause PMD. 28286750

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. 28320130

2017

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. 27179222

2016

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations and known as the classical form of HML as well as Pelizaeus-Merzbacher-like disease (PMLD) (Online Mendelian Inheritance in Man [OMIM] 608804 and OMIM 260600) due to GJC2 mutations. 27405012

2016

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE Pelizaeus-Merzbacher disease (PMD) is a severe hypomyelinating leukodystrophy resulting from proteolipid protein 1 gene (PLP1) mutations leading to oligodendrocyte loss. 27661457

2016

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE While her phenotypic features such as cognitive impairment and motor delay show overlap with Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations at Xq22.2, this gene is not included in our patient's microdeletion and is not dysregulated by a position effect. 27506666

2016

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 GeneticVariation BEFREE A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease. 26725305

2016

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
1.000 AlteredExpression BEFREE Subsequent overexpression of PLP1 was the cause of the PMD phenotype observed in this girl. 26329556

2015