Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Waddling gait
CUI: C0231712
Disease: Waddling gait
0.700 GeneticVariation CLINVAR
Myopathy
CUI: C0026848
Disease: Myopathy
0.700 GeneticVariation CLINVAR
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
0.700 GeneticVariation CLINVAR
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
0.700 GeneticVariation CLINVAR
Decreased patellar reflex
CUI: C3277184
Disease: Decreased patellar reflex
0.700 GeneticVariation CLINVAR
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.700 GeneticVariation CLINVAR
Proximal lower limb amyotrophy
CUI: C1836767
Disease: Proximal lower limb amyotrophy
0.700 GeneticVariation CLINVAR
Rimmed vacuoles on biopsy
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
0.700 GeneticVariation CLINVAR
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
0.700 CausalMutation CLINVAR
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
0.010 GeneticVariation BEFREE Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. 28295036 2017