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: C3280721
Disease: CHILBLAIN LUPUS 2
CHILBLAIN LUPUS 2 		1 0 1 1.00 0 0
CUI: C1856979
Disease: Deep white matter hypodensities
Deep white matter hypodensities 		2 0 1 0.50 0 0
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		2 0 1 0.50 0 0
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 		3 0 1 0.33 0 0
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency 		4 0 1 0.25 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		6 0 1 0.17 0 0
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1 		7 0 1 0.14 0 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		7 0 1 0.14 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 1 0.14 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		7 0 1 0.14 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 1 0.14 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 1 0.14 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 1 0.11 0 0
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		10 0 1 1.0E-01 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 1 1.0E-01 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 1 1.0E-01 0 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		11 0 1 9.1E-02 0 0
CUI: C0008058
Disease: Chilblains
Chilblains 		12 0 1 8.3E-02 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 1 7.7E-02 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		14 0 1 7.1E-02 0 0
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		21 0 1 4.8E-02 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 1 4.8E-02 0 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		22 0 1 4.5E-02 0 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		25 0 1 4.0E-02 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 1 3.6E-02 0 0