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: C3714745
Disease: Malabsorption
Malabsorption 		175 0 175 1.00 0 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 175 0.73 0 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		121 0 49 0.20 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 36 0.19 0 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		108 0 45 0.19 0 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		109 0 45 0.19 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 76 0.18 0 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		257 0 62 0.17 0 0
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		49 0 31 0.16 0 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		122 0 41 0.16 0 0
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		120 0 40 0.16 0 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		84 0 35 0.16 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 64 0.15 0 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		41 0 28 0.15 0 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		41 0 28 0.15 0 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		41 0 28 0.15 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 35 0.14 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 60 0.14 0 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension 		72 0 30 0.14 0 0
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		93 0 32 0.14 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 35 0.13 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 0 61 0.13 0 0
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		73 0 29 0.13 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 29 0.13 0 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		60 0 27 0.13 0 0