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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 120 0.20 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 0 79 0.17 0 0
CUI: C0022346
Disease: Icterus
Icterus 		241 0 55 0.14 0 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		127 21 39 0.13 1 3.4E-02
CUI: C0085605
Disease: Liver Failure
Liver Failure 		293 0 48 0.11 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 99 0.10 0 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		30 0 22 1.0E-01 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 42 8.9E-02 0 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		70 0 23 8.9E-02 0 0
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		82 0 23 8.5E-02 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 29 8.5E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 20 8.0E-02 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		102 0 23 7.9E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 37 7.7E-02 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 12 22 7.7E-02 2 0.11
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 43 7.3E-02 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 21 7.2E-02 0 0
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		282 0 33 7.2E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 28 7.1E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 29 7.1E-02 1 2.0E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 25 7.0E-02 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 19 7.0E-02 0 0
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea 		17 0 15 7.0E-02 0 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		37 0 16 6.9E-02 0 0
CUI: C0011991
Disease: Diarrhea
Diarrhea 		632 0 54 6.8E-02 0 0