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: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 21 0.10 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 25 0.10 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 0 29 0.10 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 29 0.10 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 33 0.10 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 32 0.10 0 0
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		111 0 24 0.10 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 18 0.10 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 24 0.10 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 25 9.9E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 38 9.9E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 20 9.8E-02 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 17 9.7E-02 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 32 9.6E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 28 9.6E-02 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 17 9.3E-02 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 32 9.3E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 23 9.2E-02 0 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 17 9.1E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 26 9.1E-02 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 21 9.0E-02 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 20 8.9E-02 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 21 8.9E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 38 8.9E-02 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 15 8.9E-02 0 0