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: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		2 4 2 0.18 1 9.1E-02
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		2 1 2 0.18 1 0.12
CUI: C4022763
Disease: Elevated brain choline level by MRS
Elevated brain choline level by MRS 		2 1 2 0.18 1 0.12
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		3 1 2 0.17 1 0.12
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		3 3 2 0.17 1 1.0E-01
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 2 0.15 1 9.1E-02
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		4 3 2 0.15 1 1.0E-01
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		4 1 2 0.15 1 0.12
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 4 2 0.13 1 9.1E-02
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		7 1 2 0.12 1 0.12
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 6 2 0.12 1 7.7E-02
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 2 2 0.12 1 0.11
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 3 0.11 2 0.11
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		10 0 2 0.11 0 0
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		23 2 3 9.7E-02 2 0.25
CUI: C0233283
Disease: Complete breech presentation
Complete breech presentation 		1 0 1 9.1E-02 0 0
CUI: C0234174
Disease: Sucking reflex
Sucking reflex 		1 0 1 9.1E-02 0 0
CUI: C0234966
Disease: Astasia
Astasia 		1 0 1 9.1E-02 0 0
CUI: C0271616
Disease: Precocious female puberty
Precocious female puberty 		1 1 1 9.1E-02 1 0.12
CUI: C0701826
Disease: Perinatal death
Perinatal death 		1 0 1 9.1E-02 0 0
CUI: C1855905
Disease: Microbrachycephaly
Microbrachycephaly 		1 1 1 9.1E-02 1 0.12
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 		1 0 1 9.1E-02 0 0
CUI: C3150353
Disease: Ventral septal defect (VSD)
Ventral septal defect (VSD) 		1 0 1 9.1E-02 0 0
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 		1 0 1 9.1E-02 0 0
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		1 29 1 9.1E-02 1 2.8E-02