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: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 2 0.25 2 0.50
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		5 1 2 0.25 1 0.33
CUI: C0857576
Disease: Abnormality of thyroid physiology
Abnormality of thyroid physiology 		1 0 1 0.20 0 0
CUI: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE 		1 1 1 0.20 1 0.33
CUI: C2749685
Disease: CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) 		1 0 1 0.20 0 0
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
Cystinosis, benign, nonnephropathic 		1 0 1 0.20 0 0
CUI: C3537440
Disease: Cystinosis, Infantile Nephropathic
Cystinosis, Infantile Nephropathic 		1 0 1 0.20 0 0
CUI: C4022035
Disease: Abnormality of vitamin D metabolism
Abnormality of vitamin D metabolism 		1 0 1 0.20 0 0
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the cerebrum 		1 1 1 0.20 1 0.33
CUI: C4025623
Disease: Elevated intracellular cystine
Elevated intracellular cystine 		1 0 1 0.20 0 0
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 0.29
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		1 2 1 0.20 1 0.25
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
Juvenile nephropathic cystinosis (disorder) 		2 0 1 0.17 0 0
CUI: C1096610
Disease: Corneal crystalline deposits
Corneal crystalline deposits 		2 0 1 0.17 0 0
CUI: C4025020
Disease: Acute hepatic steatosis
Acute hepatic steatosis 		2 0 1 0.17 0 0
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		3 1 1 0.14 1 0.33
CUI: C4022592
Disease: Oral motor hypotonia
Oral motor hypotonia 		3 0 1 0.14 0 0
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 1 0.14 1 0.17
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		3 1 1 0.14 1 0.33
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		4 3 1 0.12 1 0.20
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		4 0 1 0.12 0 0
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		4 2 1 0.12 1 0.25
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 6 1 0.12 1 0.12
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 3 1 0.11 1 0.20
CUI: C0265985
Disease: Mongolian Spot
Mongolian Spot 		5 3 1 0.11 1 0.20