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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 1 4.7E-03 2 9.5E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 42 2 4.7E-03 2 4.8E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 1 2.0E-03 2 2.0E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 1 4.6E-04 2 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 3 1.6E-03 2 3.6E-03
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 1 4.5E-02 2 7.4E-02
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 3 1 0.11 2 0.67
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		6 2 2 0.22 2 1.00
CUI: C4225171
Disease: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 		1 6 1 0.20 2 0.33
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		51 2 1 1.8E-02 1 0.33
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 2 2.3E-03 1 1.4E-02
CUI: C0009024
Disease: Clonus
Clonus 		60 4 1 1.6E-02 1 0.20
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 2 4.1E-03 1 1.8E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		78 23 1 1.2E-02 1 4.2E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 2 6.9E-03 1 2.6E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 1 1.3E-03 1 8.9E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 1 1.6E-03 1 3.5E-03
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 21 1 5.0E-03 1 4.5E-02
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		17 1 4 0.22 1 0.50
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		165 17 1 5.9E-03 1 5.6E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 2 9.0E-03 1 8.3E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		36 15 3 7.9E-02 1 6.2E-02
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		102 8 1 9.4E-03 1 0.11
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 3 1 0.11 1 0.25
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 2 4.2E-03 1 1.6E-02