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: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 32 0.10 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 28 9.8E-02 0 0
CUI: C0030552
Disease: Paresis
Paresis 		216 49 37 9.8E-02 1 1.2E-02
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 31 9.8E-02 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 45 9.7E-02 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 0 31 9.6E-02 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 21 9.5E-02 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 72 9.5E-02 1 5.1E-03
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 26 9.5E-02 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 28 9.3E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 50 9.3E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 24 9.3E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 31 9.3E-02 0 0
CUI: C0009917
Disease: Contracture
Contracture 		111 0 26 9.2E-02 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 25 9.1E-02 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 19 9.0E-02 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 32 9.0E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 35 9.0E-02 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 50 30 8.8E-02 2 2.5E-02
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 21 8.7E-02 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 19 8.6E-02 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 19 8.6E-02 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 25 8.4E-02 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 40 8.4E-02 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 21 8.4E-02 0 0