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 GeneticVariation disease BEFREE New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease. 1376553 1992
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
0.100 GeneticVariation disease BEFREE New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease. 1376553 1992
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.100 GeneticVariation disease BEFREE New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease. 1376553 1992
Entrez Id: 25824
Gene Symbol: PRDX5
PRDX5
0.100 GeneticVariation disease BEFREE New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease. 1376553 1992
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
1.000 Biomarker disease BEFREE The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. 1376966 1992
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
1.000 GeneticVariation disease UNIPROT The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. 1376966 1992
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.100 Biomarker disease BEFREE The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. 1376966 1992
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
0.100 Biomarker disease BEFREE The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. 1376966 1992
Entrez Id: 25824
Gene Symbol: PRDX5
PRDX5
0.100 Biomarker disease BEFREE The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. 1376966 1992
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
1.000 GeneticVariation disease UNIPROT Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis. 1384324 1992
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
Entrez Id: 25824
Gene Symbol: PRDX5
PRDX5
0.100 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
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
0.100 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
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.100 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
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: 25824
Gene Symbol: PRDX5
PRDX5
0.100 GeneticVariation disease BEFREE A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. 1707231 1991
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.100 GeneticVariation disease BEFREE A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. 1707231 1991
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
0.100 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 UNIPROT A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis. 1708672 1990