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: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha
7 0 7 0.28 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis
7 0 7 0.28 0 0
Increased serum interferon-gamma level
7 0 7 0.28 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum
9 0 7 0.26 0 0
Multifocal cerebral white matter abnormalities
10 0 7 0.25 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon
10 0 7 0.25 0 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity
11 0 7 0.24 0 0
CUI: C0008058
Disease: Chilblains
Chilblains
12 0 7 0.23 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose
13 0 7 0.23 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers
14 0 7 0.22 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2
6 0 5 0.19 0 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1
7 0 5 0.19 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome
7 0 5 0.19 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
21 0 7 0.18 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid
28 0 7 0.15 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst
28 0 7 0.15 0 0
Neonatal Alloimmune Thrombocytopenia
29 0 7 0.15 0 0
CUI: C0542223
Disease: Loss of speech
Loss of speech
37 0 8 0.15 0 0
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood
30 0 7 0.15 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly
34 0 7 0.13 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly
35 0 7 0.13 0 0
CUI: C0030326
Disease: Panniculitis
Panniculitis
37 0 7 0.13 0 0
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
3 0 3 0.12 0 0
CUI: C4021962
Disease: Genital hernia
Genital hernia
3 0 3 0.12 0 0
CUI: C4024917
Disease: Congenital encephalopathy
Congenital encephalopathy
3 0 3 0.12 0 0