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
326 19 235 0.42 3 6.5E-02
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
212 0 118 0.21 0 0
CUI: C0002871
Disease: Anemia
Anemia
308 16 127 0.19 2 4.5E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
734 0 195 0.19 0 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
109 0 79 0.16 0 0
CUI: C0042963
Disease: Vomiting
Vomiting
197 0 85 0.15 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
304 15 98 0.14 1 2.3E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
236 470 89 0.14 1 2.0E-03
CUI: C0004134
Disease: Ataxia
Ataxia
609 0 135 0.14 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
954 579 177 0.14 3 5.0E-03
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
175 0 77 0.14 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
175 0 77 0.14 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
175 3 77 0.14 1 3.1E-02
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
106 0 68 0.13 0 0
CUI: C0022346
Disease: Icterus
Icterus
144 10 72 0.13 1 2.6E-02
Sensorineural Hearing Loss (disorder)
622 0 126 0.13 0 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
154 0 72 0.13 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
167 0 73 0.13 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
246 0 82 0.13 0 0
CUI: C0015967
Disease: Fever
Fever
239 10 81 0.13 1 2.6E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
252 45 82 0.13 1 1.4E-02
CUI: C0023380
Disease: Lethargy
Lethargy
143 5 69 0.13 1 2.9E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1458 505 215 0.13 2 3.8E-03
CUI: C0036572
Disease: Seizures
Seizures
1292 417 193 0.12 4 9.0E-03
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
153 0 68 0.12 0 0