Source: CLINVAR ×
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: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		4 0 2 0.50 0 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		4 5 2 0.50 2 0.40
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		4 4 2 0.50 2 0.50
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		4 5 2 0.50 2 0.40
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		4 0 2 0.50 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		4 4 2 0.50 2 0.50
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		4 4 2 0.50 2 0.50
CUI: C0030252
Disease: Palpitations
Palpitations 		6 0 2 0.33 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		6 6 2 0.33 2 0.33
CUI: C0234182
Disease: Gowers sign
Gowers sign 		7 0 2 0.29 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		7 0 2 0.29 0 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		7 8 2 0.29 2 0.25
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		7 14 2 0.29 2 0.14
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 2 0.25 0 0
CUI: C0039070
Disease: Syncope
Syncope 		8 12 2 0.25 2 0.17
CUI: C0231712
Disease: Waddling gait
Waddling gait 		8 0 2 0.25 0 0
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		8 14 2 0.25 2 0.14
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		8 0 2 0.25 0 0
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		8 0 2 0.25 0 0
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		9 0 2 0.22 0 0
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		10 0 2 0.20 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		11 0 2 0.18 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 2 0.18 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 2 0.18 2 0.11
CUI: C0234146
Disease: Absent reflex
Absent reflex 		11 16 2 0.18 2 0.12