Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Severe demyelination of the white matter
1 0 1 1.00 0 0
CUI: C3888081
Disease: L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric acidemia
1 0 1 1.00 0 0
CUI: C0270786
Disease: Binswanger Disease
Binswanger Disease
4 0 1 0.25 0 0
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1
4 0 1 0.25 0 0
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
5 0 1 0.20 0 0
Combined D-2- and L-2-hydroxyglutaric aciduria
6 14 1 0.17 2 7.1E-02
CUI: C0265541
Disease: Cranioschisis
Cranioschisis
12 0 1 8.3E-02 0 0
Morphological abnormality of the pyramidal tract
18 0 1 5.6E-02 0 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum
21 0 1 4.8E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy
41 0 1 2.4E-02 0 0
Intellectual disability, progressive
45 0 1 2.2E-02 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis
50 0 1 2.0E-02 0 0
CUI: C1843921
Disease: Postural instability
Postural instability
60 5 1 1.7E-02 1 5.0E-02
CUI: C0231687
Disease: Spastic gait
Spastic gait
62 9 1 1.6E-02 1 4.2E-02
CUI: C0973461
Disease: Dysphasia
Dysphasia
63 0 1 1.6E-02 0 0
CUI: C0027766
Disease: Nervous System Neoplasms
Nervous System Neoplasms
68 0 1 1.5E-02 0 0
CUI: C0236018
Disease: Aura
Aura
83 0 1 1.2E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
83 0 1 1.2E-02 0 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
84 0 1 1.2E-02 0 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
86 5 1 1.2E-02 1 5.0E-02
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
88 0 1 1.1E-02 0 0
CUI: C0017639
Disease: Gliosis
Gliosis
102 0 1 9.8E-03 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
116 0 1 8.6E-03 0 0
Aplasia/Hypoplasia of the cerebellum
116 0 1 8.6E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
142 0 1 7.0E-03 0 0