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: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 27 0.77 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 7 0.25 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 7 0.25 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 7 0.25 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 7 0.23 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 7 0.23 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 7 0.23 0 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		11 0 7 0.22 0 0
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		6 0 6 0.21 0 0
CUI: C0008058
Disease: Chilblains
Chilblains 		12 0 7 0.21 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 7 0.21 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		14 0 7 0.20 0 0
CUI: C3553754
Disease: Absent toe
Absent toe 		8 0 6 0.20 0 0
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		9 0 6 0.19 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 9 0.19 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		6 0 5 0.17 0 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		7 0 5 0.17 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 7 0.17 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		7 0 5 0.17 0 0
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		17 0 6 0.15 0 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		25 0 7 0.15 0 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		18 0 6 0.15 0 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		18 0 6 0.15 0 0
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		19 0 6 0.15 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 6 0.15 0 0