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: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed
5 2 3 5.6E-03 2 0.17
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy
4 2 1 1.9E-03 2 0.17
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis
9 3 3 5.6E-03 2 0.15
CUI: C0006157
Disease: Breech Presentation
Breech Presentation
30 11 3 5.4E-03 3 0.15
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
2 11 1 1.9E-03 3 0.15
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood
8 4 4 7.4E-03 2 0.14
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality
6 4 1 1.9E-03 2 0.14
Congenital hypoplasia of adrenal gland
45 13 8 1.4E-02 3 0.14
CUI: C0018989
Disease: Hemiparesis
Hemiparesis
91 6 18 3.0E-02 2 0.12
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
41 6 10 1.8E-02 2 0.12
CUI: C3888962
Disease: POLG mutation
POLG mutation
3 7 1 1.9E-03 2 0.12
CUI: C0002418
Disease: Amblyopia
Amblyopia
85 29 11 1.8E-02 4 0.11
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
77 11 6 9.9E-03 2 9.5E-02
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk
37 11 4 7.1E-03 2 9.5E-02
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
130 12 7 1.1E-02 2 9.1E-02
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
9 25 2 3.7E-03 3 8.8E-02
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia
55 13 8 1.4E-02 2 8.7E-02
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney
8 1 1 1.9E-03 1 8.3E-02
CUI: C0576227
Disease: Narrow foot
Narrow foot
6 1 2 3.7E-03 1 8.3E-02
Generalized tonic-clonic seizures with focal onset
23 1 16 3.0E-02 1 8.3E-02
Widely-spaced maxillary central incisors
7 1 1 1.9E-03 1 8.3E-02
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia
13 1 1 1.8E-03 1 8.3E-02
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
13 1 1 1.8E-03 1 8.3E-02
EEG with irregular generalized spike and wave complexes
7 1 3 5.6E-03 1 8.3E-02
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system
7 1 2 3.7E-03 1 8.3E-02