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 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 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 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: 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 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: 2641
Gene Symbol: GCG
GCG 		0.100 Biomarker disease BEFREE GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. 10680791 2000
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: 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: 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: 728773
Gene Symbol: PABPC1P2
PABPC1P2 		0.100 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 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: 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
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: 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 GeneticVariation disease LHGDN Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. 11003790 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 Biomarker disease BEFREE PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. 11079546 2000