Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Increased jitter at single fibre EMG
5 0 5 1.00 0 0
Generalized weakness of limb muscles
6 0 5 0.83 0 0
CUI: C4021024
Disease: Muscle fiber tubular inclusions
Muscle fiber tubular inclusions
8 0 5 0.62 0 0
CUI: C0333768
Disease: Tubular aggregates
Tubular aggregates
2 0 2 0.40 0 0
Congenital Myasthenic Syndromes, Postsynaptic
18 0 4 0.21 0 0
Myasthenic Syndromes, Congenital, Slow Channel
18 0 4 0.21 0 0
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
24 0 5 0.21 0 0
Congenital Myasthenic Syndromes, Presynaptic
19 0 4 0.20 0 0
Congenital disorder of glycosylation type 1J
1 0 1 0.20 0 0
CUI: C3552335
Disease: MYASTHENIC SYNDROME, CONGENITAL, 12
MYASTHENIC SYNDROME, CONGENITAL, 12
1 0 1 0.20 0 0
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13
1 0 1 0.20 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
1 0 1 0.20 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
1 0 1 0.20 0 0
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14
1 0 1 0.20 0 0
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15
2 0 1 0.17 0 0
CUI: C0393933
Disease: Pseudomyopathic myasthenia
Pseudomyopathic myasthenia
3 0 1 0.14 0 0
CUI: C0751950
Disease: Neuromuscular Junction Diseases
Neuromuscular Junction Diseases
3 0 1 0.14 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome
12 0 2 0.13 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running
38 0 5 0.13 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias
41 0 5 0.12 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
41 0 5 0.12 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
44 0 5 0.11 0 0
CUI: C0578531
Disease: Skin dimple
Skin dimple
5 0 1 0.11 0 0
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
5 0 1 0.11 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle
5 0 1 0.11 0 0