Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 CausalMutation disease CLINVAR
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 100529063
Gene Symbol: BCL2L2-PABPN1
BCL2L2-PABPN1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100529063
Gene Symbol: BCL2L2-PABPN1
BCL2L2-PABPN1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 Biomarker disease BEFREE As part of our effort to clone positionally the oculopharyngeal muscular dystrophy (OPMD) gene, we constructed a YAC contig, a cosmid contig, and an EcoRI restriction map of the OPMD candidate region. 9782086 1998
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 GeneticVariation disease BEFREE Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. 9462747 1998
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 GeneticVariation disease BEFREE Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. 9462747 1998
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 GeneticVariation disease BEFREE Autosomal recessive OPMD is caused by a double dose of a (GCG)7 PABP2 allele. 10711989 1999
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 GeneticVariation disease BEFREE Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Canadians. 10508991 1999
Entrez Id: 2641
Gene Symbol: GCG
GCG 		0.100 GeneticVariation disease BEFREE Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Canadians. 10508991 1999
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 GeneticVariation disease BEFREE Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. 10508991 1999
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 GeneticVariation disease BEFREE Autosomal recessive OPMD is caused by a double dose of a (GCG)7 PABP2 allele. 10711989 1999
Entrez Id: 2641
Gene Symbol: GCG
GCG 		0.100 GeneticVariation disease BEFREE To independently confirm the presence and study the meiotic stability of the GCG expansion mutations in a distinct ethnic population with OPMD. 10555658 1999
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 Biomarker disease BEFREE These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias. 10838245 2000
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 Biomarker disease BEFREE We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD. 11079550 2000
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 Biomarker disease BEFREE Positive immunoreaction for polyclonal PABP2 was confined to the intranuclear aggregates of muscle fibers exclusively in patients with OPMD. 11003790 2000
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 GeneticVariation disease BEFREE Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion in the polyadenylation binding protein 2 (PABP2) gene. 11087766 2000
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 Biomarker disease BEFREE Short expansions of a (GCG)6 repeat located in exon 1 of the newly isolated PABP2 gene have been demonstrated in a large number of OPMD families. 10680791 2000
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 GeneticVariation disease BEFREE Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene. 10734263 2000
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		0.900 Biomarker disease BEFREE PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. 11079546 2000
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 GeneticVariation disease BEFREE Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion in the polyadenylation binding protein 2 (PABP2) gene. 11087766 2000
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 Biomarker disease BEFREE PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. 11079546 2000
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 AlteredExpression disease BEFREE Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. 11003790 2000
Entrez Id: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 Biomarker disease BEFREE These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias. 10838245 2000