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: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 69 0.15 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 68 0.12 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 68 0.12 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 72 0.11 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 92 0.11 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 55 0.11 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 70 0.11 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 51 0.11 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 124 0.11 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 90 0.11 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 81 0.10 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 61 0.10 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 59 0.10 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 71 0.10 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 44 1.0E-01 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 45 9.9E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 72 9.8E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 114 9.7E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 77 9.5E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 47 9.4E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 99 9.4E-02 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 37 9.3E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 41 9.3E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 60 9.3E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 60 9.3E-02 0 0