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: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 21 0.12 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 25 0.12 1 3.2E-02
CUI: C0542223
Disease: Loss of speech
Loss of speech 		37 0 12 0.11 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 44 0.10 0 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		25 0 9 8.8E-02 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 10 8.3E-02 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 7 8.1E-02 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 7 8.1E-02 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 7 8.1E-02 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 17 8.1E-02 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 9 8.1E-02 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 2 9 8.1E-02 1 0.12
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 17 8.1E-02 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 7 8.0E-02 0 0
CUI: C0023882
Disease: Little's Disease
Little's Disease 		37 0 9 7.9E-02 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 17 7.9E-02 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 7 7.9E-02 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 7 7.9E-02 0 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		11 0 7 7.8E-02 0 0
CUI: C0008058
Disease: Chilblains
Chilblains 		12 0 7 7.7E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 14 7.6E-02 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 7 7.6E-02 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		14 0 7 7.5E-02 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 8 7.5E-02 0 0
CUI: C3853779
Disease: Neonatal Alloimmune Thrombocytopenia
Neonatal Alloimmune Thrombocytopenia 		29 0 8 7.5E-02 0 0