Source: INFERRED ×
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: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis 		5 2 1 3.1E-02 2 5.6E-02
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		6 2 1 3.0E-02 2 5.6E-02
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 3 1 3.1E-02 2 5.4E-02
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 3.6E-02 2 5.0E-02
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		1 9 1 3.6E-02 2 4.7E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		167 14 1 5.2E-03 2 4.2E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		153 15 1 5.6E-03 2 4.1E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 24 7 7.3E-02 2 3.4E-02
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 1 2.2E-02 2 3.3E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 11 2.3E-02 3 3.2E-02
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		32 1 1 1.7E-02 1 2.8E-02
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		16 1 1 2.3E-02 1 2.8E-02
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		9 1 1 2.8E-02 1 2.8E-02
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 1 2 3.9E-02 1 2.8E-02
CUI: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE 		1 1 1 3.6E-02 1 2.8E-02
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the cerebrum 		1 1 1 3.6E-02 1 2.8E-02
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 2 1 1.9E-02 1 2.7E-02
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		7 2 2 6.1E-02 1 2.7E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 6 1.7E-02 3 2.7E-02
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		4 2 1 3.2E-02 1 2.7E-02
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		47 3 1 1.4E-02 1 2.6E-02
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		4 3 1 3.2E-02 1 2.6E-02
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 3.1E-02 1 2.6E-02
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		1 42 1 3.6E-02 2 2.6E-02
CUI: C0009024
Disease: Clonus
Clonus 		59 4 2 2.4E-02 1 2.6E-02