Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
0.700 GeneticVariation CLINVAR
Gowers sign
CUI: C0234182
Disease: Gowers sign
0.700 GeneticVariation CLINVAR
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
0.700 GeneticVariation CLINVAR
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 GeneticVariation CLINVAR
Heart murmur
CUI: C0018808
Disease: Heart murmur
0.700 GeneticVariation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR
Severe muscular hypotonia
CUI: C1839630
Disease: Severe muscular hypotonia
0.700 GeneticVariation CLINVAR
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
0.700 GeneticVariation CLINVAR