Source: CURATED ×
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: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		6 0 6 1.00 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		7 0 6 0.86 0 0
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		8 4 6 0.75 1 4.5E-02
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1 		3 0 2 0.29 0 0
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		35 0 6 0.17 0 0
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		1 0 1 0.17 0 0
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		1 0 1 0.17 0 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		1 0 1 0.17 0 0
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		1 0 1 0.17 0 0
CUI: C3280721
Disease: CHILBLAIN LUPUS 2
CHILBLAIN LUPUS 2 		1 0 1 0.17 0 0
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		1 0 1 0.17 0 0
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		1 0 1 0.17 0 0
CUI: C4303791
Disease: Cerebroretinal vasculopathy
Cerebroretinal vasculopathy 		1 0 1 0.17 0 0
CUI: C4479376
Disease: PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 2 		1 0 1 0.17 0 0
CUI: C0432254
Disease: Singleton Merten syndrome
Singleton Merten syndrome 		2 0 1 0.14 0 0
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency 		2 0 1 0.14 0 0
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		2 0 1 0.14 0 0
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		3 0 1 0.12 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		4 0 1 0.11 0 0
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		4 0 1 0.11 0 0
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		5 0 1 1.0E-01 0 0
CUI: C0205815
Disease: Leiomyosarcoma, Epithelioid
Leiomyosarcoma, Epithelioid 		5 0 1 1.0E-01 0 0
CUI: C0205816
Disease: Leiomyosarcoma, Myxoid
Leiomyosarcoma, Myxoid 		5 0 1 1.0E-01 0 0
CUI: C0018213
Disease: Graves Disease
Graves Disease 		9 0 1 7.1E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		86 0 4 4.5E-02 0 0