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: C0038002
Disease: Splenomegaly
Splenomegaly 		345 19 238 0.38 3 6.5E-02
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 120 0.20 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 207 0.18 0 0
CUI: C0085605
Disease: Liver Failure
Liver Failure 		293 0 111 0.16 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 94 178 0.15 2 1.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 179 0.14 3 5.0E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 99 0.13 1 2.3E-02
CUI: C0022346
Disease: Icterus
Icterus 		241 17 87 0.13 1 2.2E-02
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 94 0.13 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 77 0.12 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 3 77 0.12 1 3.1E-02
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 84 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 80 0.12 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 6 73 0.12 1 2.9E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 139 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 156 0.12 1 5.2E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 136 0.12 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 136 0.12 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 144 0.12 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 140 0.12 2 1.6E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 96 0.11 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 110 113 0.11 1 7.2E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 155 0.11 0 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		277 0 80 0.11 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 108 0.11 0 0