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: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 16 8.8E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 35 8.8E-02 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 19 8.8E-02 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 14 8.7E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 17 8.7E-02 0 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 16 8.6E-02 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 36 8.5E-02 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 25 8.4E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 34 8.4E-02 0 0
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		32 0 14 8.4E-02 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 17 8.3E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 56 8.2E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 76 8.2E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 15 8.2E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 31 8.1E-02 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 0 19 8.1E-02 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 20 8.0E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 20 8.0E-02 0 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 0 20 8.0E-02 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 34 8.0E-02 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 33 8.0E-02 0 0
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		14 0 12 7.9E-02 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 20 7.9E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 25 7.9E-02 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 33 7.8E-02 0 0