Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Symmetrical progressive peripheral demyelination
1 0 1 1.00 0 0
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1
4 0 1 0.25 0 0
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
5 112 1 0.20 1 8.9E-03
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia
5 0 1 0.20 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria
8 0 1 0.12 0 0
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I
11 0 1 9.1E-02 0 0
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy
14 0 1 7.1E-02 0 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles
23 0 1 4.3E-02 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria
26 0 1 3.8E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus
32 0 1 3.1E-02 0 0
CUI: C0023882
Disease: Little's Disease
Little's Disease
37 0 1 2.7E-02 0 0
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage
40 0 1 2.5E-02 0 0
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
41 0 1 2.4E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 1 2.2E-02 0 0
Malignant hyperpyrexia due to anesthesia
60 0 1 1.7E-02 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
64 0 1 1.6E-02 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
77 0 1 1.3E-02 0 0
CUI: C0009421
Disease: Comatose
Comatose
78 0 1 1.3E-02 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
85 0 1 1.2E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
94 0 1 1.1E-02 0 0
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
104 0 1 9.6E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
112 0 1 8.9E-03 0 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
113 0 1 8.8E-03 0 0
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
115 0 1 8.7E-03 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
116 0 1 8.6E-03 0 0