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: C0009421
Disease: Comatose
Comatose 		78 0 14 7.7E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 28 7.1E-02 0 0
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		233 0 23 7.0E-02 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 18 6.9E-02 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		102 0 14 6.8E-02 0 0
CUI: C4732730
Disease: Blood spots
Blood spots 		117 0 14 6.3E-02 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 12 6.2E-02 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		25 0 8 5.9E-02 0 0
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		44 0 9 5.8E-02 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 14 5.7E-02 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 14 5.7E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 34 5.6E-02 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 14 5.6E-02 0 0
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		130 0 13 5.5E-02 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 17 5.4E-02 0 0
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		945 0 52 5.1E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		32 0 7 4.9E-02 0 0
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		33 0 7 4.8E-02 0 0
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		143 0 12 4.8E-02 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 12 4.8E-02 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 0 7 4.7E-02 0 0
CUI: C0162429
Disease: Malnutrition
Malnutrition 		417 0 24 4.7E-02 0 0
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		16 0 6 4.7E-02 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		19 0 6 4.5E-02 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 8 4.5E-02 0 0