PABPN1, poly(A) binding protein nuclear 1, 8106

N. diseases: 48; N. variants: 3
Disease: Blepharoptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 GeneticVariation disease BEFREE 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker disease HPO