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: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		18 0 4 0.12 0 0
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		11 7 3 0.11 2 0.11
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		11 8 3 0.11 2 0.11
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		2 4 2 0.11 1 6.2E-02
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		2 1 2 0.11 1 7.7E-02
CUI: C4025174
Disease: Large cafe-au-lait macules with irregular margins
Large cafe-au-lait macules with irregular margins 		2 1 2 0.11 1 7.7E-02
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		3 1 2 1.0E-01 1 7.7E-02
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		3 3 2 1.0E-01 1 6.7E-02
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		3 1 2 1.0E-01 1 7.7E-02
CUI: C4476760
Disease: Visual fixation instability
Visual fixation instability 		3 0 2 1.0E-01 0 0
CUI: C4699189
Disease: Nonprogressive/congenital
Nonprogressive/congenital 		3 0 2 1.0E-01 0 0
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 11 2 9.5E-02 1 4.3E-02
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 2 9.5E-02 1 6.2E-02
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		4 3 2 9.5E-02 1 6.7E-02
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		4 1 2 9.5E-02 1 7.7E-02
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		4 4 2 9.5E-02 2 0.13
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed 		5 0 2 9.1E-02 0 0
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		5 4 2 9.1E-02 2 0.13
CUI: C2674512
Disease: Truncal titubation
Truncal titubation 		5 2 2 9.1E-02 2 0.15
CUI: C4022906
Disease: Delayed social development
Delayed social development 		5 0 2 9.1E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 11 8.7E-02 9 0.14
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		6 0 2 8.7E-02 0 0
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 4 2 8.7E-02 1 6.2E-02
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy 		7 0 2 8.3E-02 0 0
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome 		7 0 2 8.3E-02 0 0