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: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 45 9.9E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 108 9.6E-02 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 61 9.5E-02 1 1.4E-02
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 81 9.5E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 53 9.4E-02 1 1.1E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 42 9.3E-02 5 6.6E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 50 9.3E-02 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 60 9.3E-02 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 76 9.3E-02 1 5.9E-03
CUI: C0030552
Disease: Paresis
Paresis 		216 49 51 9.2E-02 2 2.1E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 65 9.2E-02 1 1.2E-02
CUI: C0037763
Disease: Spasm
Spasm 		172 9 47 9.1E-02 1 1.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 70 9.1E-02 1 1.1E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 0 54 9.0E-02 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 57 9.0E-02 0 0
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		167 0 46 9.0E-02 0 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		155 0 45 9.0E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 55 8.9E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 69 8.9E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 101 8.9E-02 5 2.8E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 92 8.9E-02 1 2.6E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 90 8.9E-02 7 5.3E-02
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 45 8.8E-02 0 0
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		156 0 44 8.8E-02 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 48 8.7E-02 2 2.6E-02