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: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 31 0.12 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 31 0.12 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 20 0.11 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 15 17 0.11 1 4.5E-02
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 23 0.11 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 33 0.11 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 14 0.11 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 20 0.11 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 17 0.11 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 17 0.11 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 15 0.11 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 16 0.11 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 18 0.11 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 30 0.11 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 18 0.11 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 42 0.11 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 14 0.11 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 13 0.11 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 28 0.11 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 69 0.11 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 0.11 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 13 0.11 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 13 0.11 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 0 19 0.11 0 0
CUI: C0018794
Disease: Heart Block
Heart Block 		58 0 17 0.10 0 0