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: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		1 36 1 1.00 23 0.62
CUI: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		1 54 1 1.00 23 0.42
CUI: C1837273
Disease: Long-chain dicarboxylic aciduria
Long-chain dicarboxylic aciduria 		1 0 1 1.00 0 0
CUI: C1881170
Disease: Inappropriate sinus tachycardia
Inappropriate sinus tachycardia 		1 1 1 1.00 1 4.2E-02
CUI: C3280160
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 		1 6 1 1.00 6 0.25
CUI: C0750968
Disease: Central Nervous System Metabolic Disorders
Central Nervous System Metabolic Disorders 		2 0 1 0.50 0 0
CUI: C0751743
Disease: Metabolic Disorder, Central Nervous System, Acquired
Metabolic Disorder, Central Nervous System, Acquired 		2 0 1 0.50 0 0
CUI: C0751744
Disease: Brain Diseases, Metabolic, Acquired
Brain Diseases, Metabolic, Acquired 		2 0 1 0.50 0 0
CUI: C1135773
Disease: Acquired Metabolic Diseases, Nervous System
Acquired Metabolic Diseases, Nervous System 		2 0 1 0.50 0 0
CUI: C1696466
Disease: Hepatic calcification
Hepatic calcification 		2 0 1 0.50 0 0
CUI: C1837247
Disease: Antenatal intracerebral hemorrhage
Antenatal intracerebral hemorrhage 		2 0 1 0.50 0 0
CUI: C4015009
Disease: Decreased plasma free carnitine
Decreased plasma free carnitine 		2 0 1 0.50 0 0
CUI: C4023117
Disease: Decreased plasma total carnitine
Decreased plasma total carnitine 		2 0 1 0.50 0 0
CUI: C4706387
Disease: Acute necrotizing encephalopathy of childhood
Acute necrotizing encephalopathy of childhood 		3 0 1 0.33 0 0
CUI: C0006112
Disease: Brain Diseases, Metabolic
Brain Diseases, Metabolic 		4 0 1 0.25 0 0
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		4 0 1 0.25 0 0
CUI: C4021167
Disease: Tapered toe
Tapered toe 		4 0 1 0.25 0 0
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		5 0 1 0.20 0 0
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		5 0 1 0.20 0 0
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts 		6 0 1 0.17 0 0
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		8 0 1 0.12 0 0
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion 		8 0 1 0.12 0 0
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		9 0 1 0.11 0 0
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		11 29 1 9.1E-02 9 0.20
CUI: C1865292
Disease: Nonketotic hypoglycemia
Nonketotic hypoglycemia 		11 0 1 9.1E-02 0 0