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: C0009024
Disease: Clonus
Clonus 		60 0 17 7.6E-02 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 16 7.6E-02 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 14 7.5E-02 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 25 7.5E-02 0 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		108 0 20 7.5E-02 0 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		109 0 20 7.4E-02 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 19 7.4E-02 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 14 7.4E-02 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 16 7.4E-02 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 14 7.3E-02 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 72 7.3E-02 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 14 7.3E-02 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		58 0 16 7.2E-02 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 19 7.2E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 52 7.2E-02 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 7.2E-02 0 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		60 0 16 7.1E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 33 7.1E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 15 7.1E-02 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 13 7.1E-02 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 13 7.1E-02 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 16 7.1E-02 0 0
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		31 0 14 7.1E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 40 7.1E-02 1 7.6E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 36 7.0E-02 0 0