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: C0262665
Disease: Abnormal vocal cord morphology
Abnormal vocal cord morphology 		1 2 1 1.00 2 1.00
CUI: C1321325
Disease: Elliptical nystagmus
Elliptical nystagmus 		1 0 1 1.00 0 0
CUI: C4021216
Disease: EEG with persistent abnormal rhythmic activity
EEG with persistent abnormal rhythmic activity 		2 2 1 0.50 2 1.00
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		3 0 1 0.33 0 0
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 0 1 0.17 0 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 0 1 0.14 0 0
CUI: C3151140
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D 		7 9 1 0.14 2 0.22
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		9 4 1 0.11 2 0.50
CUI: C0276434
Disease: Acute type A viral hepatitis
Acute type A viral hepatitis 		10 0 1 1.0E-01 0 0
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		10 0 1 1.0E-01 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 8 1 9.1E-02 2 0.25
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		12 8 1 8.3E-02 2 0.25
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 5 1 5.3E-02 2 0.40
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 9 1 3.8E-02 2 0.22
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 4 1 3.8E-02 2 0.50
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 6 1 3.4E-02 2 0.33
CUI: C0038450
Disease: Stridor
Stridor 		31 7 1 3.2E-02 2 0.29
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 1 3.1E-02 0 0
CUI: C0023882
Disease: Little's Disease
Little's Disease 		37 0 1 2.7E-02 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 1 2.6E-02 2 0.11
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 15 1 2.3E-02 2 0.13
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 1 2.2E-02 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 1 1.8E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 1 1.7E-02 0 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		62 7 1 1.6E-02 2 0.29