Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy
8 0 2 0.18 0 0
CUI: C0155338
Disease: Total ophthalmoplegia
Total ophthalmoplegia
2 0 1 0.17 0 0
Exertional rhabdomyolysis (disorder)
2 0 1 0.17 0 0
CUI: C0268445
Disease: Normokalemic Periodic Paralysis
Normokalemic Periodic Paralysis
2 0 1 0.17 0 0
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
2 0 1 0.17 0 0
Central core regions in muscle fibers
2 0 1 0.17 0 0
CUI: C4025238
Disease: Generalized morning stiffness
Generalized morning stiffness
2 0 1 0.17 0 0
Type 1 and type 2 muscle fiber minicore regions
2 0 1 0.17 0 0
CUI: C0020440
Disease: Hypercapnia
Hypercapnia
11 0 2 0.14 0 0
Thyrotoxicosis with toxic single thyroid nodule
3 0 1 0.14 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy
3 0 1 0.14 0 0
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder)
3 0 1 0.14 0 0
CUI: C3267178
Disease: Axial myopathy
Axial myopathy
3 0 1 0.14 0 0
CUI: C4023067
Disease: Sternocleidomastoid amyotrophy
Sternocleidomastoid amyotrophy
3 0 1 0.14 0 0
CUI: C4023375
Disease: Tibialis atrophy
Tibialis atrophy
3 0 1 0.14 0 0
CUI: C4274324
Disease: Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria
3 0 1 0.14 0 0
Internally nucleated skeletal muscle fibers
3 0 1 0.14 0 0
Hypokalemic periodic paralysis type 1
12 0 2 0.13 0 0
Mixed respiratory and metabolic acidosis
4 0 1 0.12 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 1 0.12 0 0
AV Block Second Degree by ECG Finding
4 0 1 0.12 0 0
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle
4 2 1 0.12 1 0.33
Abnormal thalamic MRI signal intensity
4 6 1 0.12 1 0.14
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia
4 0 1 0.12 0 0
Tooth development and eruption disorder
5 0 1 0.11 0 0