Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 Biomarker disease HPO
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease CLINVAR
Entrez Id: 4001
Gene Symbol: LMNB1
LMNB1 		0.310 Biomarker disease CTD_human
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		0.100 Biomarker disease HPO
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		0.100 Biomarker disease HPO
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 Biomarker disease GENOMICS_ENGLAND A sex-linked recessive form of spastic paraplegia. 14452137 1962
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease BEFREE Comparison of the gene maps of the human and mouse X chromosomes suggests that myelin proteolipid protein may be involved in X-linked mutations at the mouse jimpy locus and has implications for Pelizaeus-Merzbacher disease, a human inherited X-linked myelin disorder. 3840606 1985
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 Biomarker disease CLINGEN Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. 3466187 1986
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease BEFREE These findings suggest that there may be alterations in the PLP gene in both jp mouse and Pelizaeus-Merzbacher disease. 3746948 1986
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 Biomarker disease BEFREE The specificity of this protein deficiency in Pelizaeus-Merzbacher disease gains additional support from the recent mapping of the lipophilin gene to the human X chromosome. 3827224 1987
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 Biomarker disease CLINGEN Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. 2773936 1989
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease UNIPROT Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. 2479017 1989
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease UNIPROT Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. 2773936 1989
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease BEFREE The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred. 2480601 1989
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease UNIPROT The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred. 2480601 1989
Entrez Id: 25824
Gene Symbol: PRDX5
PRDX5 		0.100 GeneticVariation disease BEFREE The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred. 2480601 1989
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH 		0.100 GeneticVariation disease BEFREE The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred. 2480601 1989
Entrez Id: 57026
Gene Symbol: PDXP
PDXP 		0.100 GeneticVariation disease BEFREE The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred. 2480601 1989
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease UNIPROT A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis. 1708672 1990
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 Biomarker disease CLINGEN A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. 1723945 1990
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease BEFREE It has been postulated that a defect in the PLP gene is responsible for PMD. 1720927 1991
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease UNIPROT Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. 1715570 1991
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease UNIPROT A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. 1707231 1991
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease BEFREE A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. 1707231 1991
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		1.000 GeneticVariation disease BEFREE Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA. 1676565 1991