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

N. diseases: 48; N. variants: 3
Disease: Paresis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030552
Disease: Paresis
Paresis 		0.030 GeneticVariation phenotype BEFREE Alanine expansion mutations in poly(A)-binding protein nuclear 1 (PABPN1) cause muscle weakness in the late-onset disorder oculopharyngeal muscular dystrophy. 24486325 2014
CUI: C0030552
Disease: Paresis
Paresis 		0.030 GeneticVariation phenotype BEFREE In the presence of a positive family history and late-onset ptosis, dysphagia, and proximal muscle weakness (its cardinal features), we suggest that PABPN1 gene analysis should be the first-line investigation to rule out this condition. 24310666 2013
CUI: C0030552
Disease: Paresis
Paresis 		0.030 Biomarker phenotype BEFREE A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging. 23793615 2013