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: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		12 0 5 0.17 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		6 0 4 0.17 0 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		7 0 4 0.16 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 4 0.16 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		7 0 4 0.16 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 4 0.16 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 4 0.16 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 4 0.15 0 0
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		10 0 4 0.14 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 4 0.14 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 4 0.14 0 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		11 0 4 0.14 0 0
CUI: C1859273
Disease: Dense calcifications in the cerebellar dentate nucleus
Dense calcifications in the cerebellar dentate nucleus 		3 0 3 0.14 0 0
CUI: C4025703
Disease: Calcification of the small brain vessels
Calcification of the small brain vessels 		3 0 3 0.14 0 0
CUI: C0008058
Disease: Chilblains
Chilblains 		12 0 4 0.13 0 0
CUI: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders 		12 0 4 0.13 0 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		4 0 3 0.13 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 4 0.13 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		14 0 4 0.12 0 0
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		6 26 3 0.12 3 0.12
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage 		16 0 4 0.12 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 13 0.12 0 0
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases 		19 0 4 0.11 0 0
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		30 0 5 0.11 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 4 0.10 0 0