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: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		2 1 2 1.00 1 0.25
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		3 1 2 0.67 1 0.25
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		3 3 2 0.67 1 0.17
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 2 0.50 1 0.14
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		4 3 2 0.50 1 0.17
CUI: C0701826
Disease: Perinatal death
Perinatal death 		1 0 1 0.50 0 0
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		4 1 2 0.50 1 0.25
CUI: C4539985
Disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 		1 0 1 0.50 0 0
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 4 2 0.33 1 0.14
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		7 1 2 0.29 1 0.25
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 2 2 0.25 1 0.20
CUI: C0730271
Disease: Myopic macular degeneration
Myopic macular degeneration 		4 0 1 0.20 0 0
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		11 8 2 0.18 1 9.1E-02
CUI: C4023684
Disease: EEG with spike-wave complexes (>3.5 Hz)
EEG with spike-wave complexes (>3.5 Hz) 		5 0 1 0.17 0 0
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		14 8 2 0.14 1 9.1E-02
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 2 0.11 1 6.2E-02
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		9 0 1 1.0E-01 0 0
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		9 0 1 1.0E-01 0 0
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		10 0 1 9.1E-02 0 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		23 3 2 8.7E-02 1 0.17
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		23 2 2 8.7E-02 1 0.20
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		25 2 2 8.0E-02 1 0.20
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		27 17 2 7.4E-02 1 5.0E-02
CUI: C3469605
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IID 		13 0 1 7.1E-02 0 0
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		15 0 1 6.2E-02 0 0