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: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		52 0 7 6.7E-02 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 6 6.7E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 5 6.7E-02 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 6 6.5E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 6 6.5E-02 0 0
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		41 0 6 6.4E-02 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 7 6.4E-02 1 0.12
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 7 6.4E-02 0 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		259 0 19 6.4E-02 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 8 6.3E-02 0 0
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		9 0 4 6.2E-02 0 0
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		9 0 4 6.2E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 30 34 6.2E-02 1 2.9E-02
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 6 6.2E-02 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 6 6.2E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 6 6.1E-02 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 7 6.1E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 7 5.7E-02 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 5 5.7E-02 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 6 5.7E-02 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 5 5.6E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 6 5.5E-02 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 6 5.4E-02 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 6 5.4E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 19 5.4E-02 0 0