Source: ALL
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: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 13 0.14 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 26 0.13 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 13 0.13 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 0 7 0.12 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 13 0.12 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 3 14 0.12 1 5.9E-02
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 17 0.11 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 8 17 0.11 1 4.5E-02
CUI: C1853241
Disease: Flat face
Flat face 		83 0 13 0.11 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 10 0.11 3 0.15
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		5 0 5 0.11 0 0
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B 		5 0 5 0.11 0 0
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		25 0 7 0.11 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 7 0.11 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 6 10 0.11 2 0.11
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 6 0.11 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 13 0.11 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 24 0.11 3 0.11
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 7 0.11 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		40 0 8 0.11 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 15 0.10 1 3.3E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 13 0.10 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 8 0.10 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 8 1.0E-01 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 14 9.8E-02 0 0