DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
Disease: Muscle Weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 GeneticVariation phenotype BEFREE Myotonic dystrophy type 1 (DM1) is a neuromuscular disease caused by the expansion of a CTG repeat in the DMPK gene and characterised by progressive skeletal muscle weakness and wasting. 20346670 2010
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 Biomarker phenotype HPO