Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Increased hepatocellular lipid droplets
14 0 12 0.20 0 0
Cytochrome C oxidase-negative muscle fibers
24 0 12 0.17 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 21 0.17 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome
32 0 13 0.17 0 0
Increased intramyocellular lipid droplets
27 0 12 0.16 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
44 0 13 0.14 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria
68 0 15 0.13 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
65 0 14 0.13 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
76 0 15 0.12 0 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes
51 0 12 0.12 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria
53 0 12 0.12 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
169 0 24 0.12 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder
64 0 12 0.11 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 0 26 0.11 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
10 0 6 9.5E-02 0 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome
13 0 6 9.1E-02 0 0
Respiratory insufficiency due to muscle weakness
85 0 12 9.1E-02 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots
14 0 6 9.0E-02 0 0
Very long chain fatty acid accumulation
15 0 6 8.8E-02 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid
15 0 6 8.8E-02 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
102 0 13 8.8E-02 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal
18 0 6 8.5E-02 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder)
18 0 6 8.5E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
189 0 19 8.3E-02 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia
20 0 6 8.2E-02 0 0