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: C0008058
Disease: Chilblains
Chilblains 		12 0 8 0.20 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 7 0.19 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 7 0.19 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 7 0.19 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 7 0.18 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 7 0.17 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 7 0.17 0 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		11 0 7 0.17 0 0
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		60 0 14 0.17 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 7 0.16 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		14 0 7 0.16 0 0
CUI: C4019436
Disease: Antiphospholipid antibody positivity
Antiphospholipid antibody positivity 		18 0 7 0.15 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 7 0.14 0 0
CUI: C1858972
Disease: Increased B cell count
Increased B cell count 		5 0 5 0.14 0 0
CUI: C1858973
Disease: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 		5 0 5 0.14 0 0
CUI: C4021032
Disease: Abnormal vitamin B12 level
Abnormal vitamin B12 level 		5 0 5 0.14 0 0
CUI: C4531156
Disease: Abnormal proportion of CD4 T cells
Abnormal proportion of CD4 T cells 		5 0 5 0.14 0 0
CUI: C0520736
Disease: Coombs positive hemolytic anemia
Coombs positive hemolytic anemia 		6 0 5 0.13 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		6 0 5 0.13 0 0
CUI: C4021747
Disease: Specific anti-polysaccharide antibody deficiency
Specific anti-polysaccharide antibody deficiency 		6 0 5 0.13 0 0
CUI: C4280772
Disease: Abnormal serum interleukin level
Abnormal serum interleukin level 		6 0 5 0.13 0 0
CUI: C4531155
Disease: Abnormal proportion of CD8 T cells
Abnormal proportion of CD8 T cells 		6 0 5 0.13 0 0
CUI: C0151379
Disease: Rheumatoid factor positive (finding)
Rheumatoid factor positive (finding) 		7 0 5 0.13 0 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		7 0 5 0.13 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		7 0 5 0.13 0 0