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 0.50 1 0.17
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		2 1 2 0.50 1 0.33
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		3 1 2 0.40 1 0.33
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		3 3 2 0.40 1 0.20
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 2 0.33 1 0.17
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		4 1 2 0.33 1 0.33
CUI: C0701826
Disease: Perinatal death
Perinatal death 		1 0 1 0.25 0 0
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 4 2 0.25 1 0.17
CUI: C4539985
Disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 		1 0 1 0.25 0 0
CUI: C4552030
Disease: Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus 		1 0 1 0.25 0 0
CUI: C4693994
Disease: CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS 		1 0 1 0.25 0 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		7 1 2 0.22 1 0.33
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		2 0 1 0.20 0 0
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		2 14 1 0.20 2 0.13
CUI: C4022973
Disease: Hypoglycinemia
Hypoglycinemia 		2 0 1 0.20 0 0
CUI: C4025885
Disease: Abnormality of the uvula
Abnormality of the uvula 		2 2 1 0.20 2 0.67
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 2 2 0.20 1 0.25
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		3 0 1 0.17 0 0
CUI: C4022971
Disease: Hyposerinemia
Hyposerinemia 		3 0 1 0.17 0 0
CUI: C4023478
Disease: EEG with focal sharp waves
EEG with focal sharp waves 		3 0 1 0.17 0 0
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		3 0 1 0.17 0 0
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		11 8 2 0.15 1 1.0E-01
CUI: C0149514
Disease: Acute bronchitis
Acute bronchitis 		4 2 1 0.14 2 0.67
CUI: C0730271
Disease: Myopic macular degeneration
Myopic macular degeneration 		4 0 1 0.14 0 0
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		14 8 2 0.12 1 1.0E-01