Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1
0.110 GeneticVariation group LHGDN Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. 15725589 2005
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1
0.110 Biomarker group HPO