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 0 175 0.73 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 175 0.73 0 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		121 0 53 0.17 0 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		257 0 69 0.16 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 74 0.16 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 76 0.15 0 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		108 0 45 0.15 0 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		109 0 45 0.15 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 36 0.14 0 0
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		120 0 44 0.14 0 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		122 0 43 0.14 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 0 66 0.13 0 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		84 0 36 0.13 0 0
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		49 0 32 0.12 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 84 0.12 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 61 0.12 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 36 0.12 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 36 0.11 0 0
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		73 0 32 0.11 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 37 0.11 0 0
CUI: C0085605
Disease: Liver Failure
Liver Failure 		293 0 54 0.11 0 0
CUI: C0011334
Disease: Dental caries
Dental caries 		330 0 57 0.11 0 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		41 0 28 0.11 0 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		41 0 28 0.11 0 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		41 0 28 0.11 0 0