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: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		6 0 6 0.86 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		7 0 6 0.75 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 5 0.56 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 5 0.56 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 5 0.56 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 5 0.45 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 5 0.42 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 5 0.42 0 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		11 0 5 0.38 0 0
CUI: C0008058
Disease: Chilblains
Chilblains 		12 4 5 0.36 2 7.1E-02
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 5 0.33 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		14 0 5 0.31 0 0
CUI: C1856979
Disease: Deep white matter hypodensities
Deep white matter hypodensities 		2 0 2 0.29 0 0
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		2 9 2 0.29 8 0.30
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		2 0 2 0.29 0 0
CUI: C3150315
Disease: AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT 		2 2 2 0.29 2 7.7E-02
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		2 0 2 0.29 0 0
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		2 0 2 0.29 0 0
CUI: C4021148
Disease: Abnormality of the medulla oblongata
Abnormality of the medulla oblongata 		2 2 2 0.29 2 7.7E-02
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1 		7 9 3 0.27 9 0.35
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 5 0.22 0 0
CUI: C3862275
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO 		5 5 2 0.20 1 3.3E-02
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		25 0 5 0.19 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 5 0.17 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 5 0.17 0 0