Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Vasculopathy, Retinal, With Cerebral Leukodystrophy
2 9 2 1.00 1 1.0E-01
Abnormality of the medulla oblongata
2 0 2 1.00 0 0
CUI: C0272263
Disease: Cryofibrinogenemia
Cryofibrinogenemia
1 0 1 0.50 0 0
Systemic lupus erythematosus encephalitis
1 0 1 0.50 0 0
Other specified degenerative diseases of nervous system
1 0 1 0.50 0 0
CUI: C3277693
Disease: Punctate vasculitis skin lesions
Punctate vasculitis skin lesions
1 0 1 0.50 0 0
CUI: C4303564
Disease: Hereditary vascular retinopathy
Hereditary vascular retinopathy
1 0 1 0.50 0 0
CUI: C4303791
Disease: Cerebroretinal vasculopathy
Cerebroretinal vasculopathy
1 0 1 0.50 0 0
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
5 0 2 0.40 0 0
CUI: C0271899
Disease: Normocytic normochromic anemia
Normocytic normochromic anemia
2 1 1 0.33 1 0.50
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3
2 0 1 0.33 0 0
CUI: C1856979
Disease: Deep white matter hypodensities
Deep white matter hypodensities
2 0 1 0.33 0 0
AICARDI-GOUTIERES SYNDROME 5 (disorder)
2 0 1 0.33 0 0
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6
2 0 1 0.33 0 0
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
2 0 1 0.33 0 0
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1
7 9 2 0.29 2 0.22
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1
7 26 2 0.29 2 7.7E-02
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4
3 0 1 0.25 0 0
CUI: C3277688
Disease: Progressive forgetfulness
Progressive forgetfulness
3 0 1 0.25 0 0
CUI: C3277687
Disease: Central nervous system degeneration
Central nervous system degeneration
4 0 1 0.20 0 0
CUI: C0233417
Disease: Poor concentration
Poor concentration
5 0 1 0.17 0 0
CUI: C0240897
Disease: Retinal exudates
Retinal exudates
5 0 1 0.17 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2
6 0 1 0.14 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha
7 0 1 0.12 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome
7 0 1 0.12 0 0