Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
1 0 1 0.33 0 0
CUI: C3810090
Disease: L-FERRITIN DEFICIENCY
L-FERRITIN DEFICIENCY
1 0 1 0.33 0 0
L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE
1 0 1 0.33 0 0
CUI: C4022419
Disease: Abnormal transferrin saturation
Abnormal transferrin saturation
1 0 1 0.33 0 0
CUI: C4024952
Disease: Cavitation of the basal ganglia
Cavitation of the basal ganglia
1 0 1 0.33 0 0
Genetic hyperferritinemia without iron overload
1 0 1 0.33 0 0
Increased total iron binding capacity
2 0 1 0.25 0 0
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
2 0 1 0.25 0 0
CUI: C3672035
Disease: Copper accumulation in liver
Copper accumulation in liver
2 0 1 0.25 0 0
Abnormal muscle fiber protein expression
2 0 1 0.25 0 0
CUI: C0854279
Disease: Basal ganglion degeneration
Basal ganglion degeneration
3 0 1 0.20 0 0
CUI: C4021566
Disease: Progressive cataract
Progressive cataract
3 0 1 0.20 0 0
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia
3 0 1 0.20 0 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
3 0 1 0.20 0 0
CUI: C0240129
Disease: Knee stiff
Knee stiff
5 0 1 0.14 0 0
Toxic effect of carbon tetrachloride
6 0 1 0.12 0 0
Abnormal basal ganglia MRI signal intensity
7 0 1 0.11 0 0
Abnormality of amino acid metabolism
8 0 1 1.0E-01 0 0
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus
9 0 1 9.1E-02 0 0
CUI: C0271791
Disease: Severe hypothyroidism
Severe hypothyroidism
9 0 1 9.1E-02 0 0
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis
9 0 1 9.1E-02 0 0
Hyperferritinemia, hereditary, with congenital cataracts
10 0 1 8.3E-02 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
10 0 1 8.3E-02 0 0
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder
11 0 1 7.7E-02 0 0
Hangover from any Alcohol or Other Drugs substance
14 0 1 6.2E-02 0 0