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: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 0 6 9.2E-02 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 0 7 9.1E-02 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 6 7.5E-02 0 0
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		4 0 4 7.1E-02 0 0
CUI: C1837650
Disease: Lack of spontaneous play
Lack of spontaneous play 		5 0 4 7.0E-02 0 0
CUI: C1837653
Disease: Inflexible adherence to routines or rituals
Inflexible adherence to routines or rituals 		5 0 4 7.0E-02 0 0
CUI: C3550150
Disease: Recurrent thrombophlebitis
Recurrent thrombophlebitis 		5 0 4 7.0E-02 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 11 7.0E-02 0 0
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		24 0 5 6.7E-02 0 0
CUI: C0877243
Disease: Increased serum serotonin
Increased serum serotonin 		8 0 4 6.7E-02 0 0
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		8 0 4 6.7E-02 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 5 6.3E-02 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 6 6.2E-02 0 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		116 0 10 6.2E-02 0 0
CUI: C4021799
Disease: Restrictive behavior
Restrictive behavior 		13 0 4 6.2E-02 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 0 7 6.1E-02 0 0
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		14 0 4 6.1E-02 0 0
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		14 0 4 6.1E-02 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 5 6.0E-02 0 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		32 0 5 6.0E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 8 6.0E-02 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 6 6.0E-02 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 15 5.9E-02 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 4 5.9E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 7 5.7E-02 0 0