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: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		1 2 1 1.00 1 0.14
CUI: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		4 0 1 0.25 0 0
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		4 11 1 0.25 5 0.42
CUI: C1849146
Disease: Loss of Purkinje cells in the cerebellar vermis
Loss of Purkinje cells in the cerebellar vermis 		5 0 1 0.20 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		6 0 1 0.17 0 0
CUI: C0233769
Disease: Micropsia
Micropsia 		6 0 1 0.17 0 0
CUI: C0233771
Disease: Macropsia
Macropsia 		6 0 1 0.17 0 0
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 1 1 0.17 1 0.17
CUI: C3489704
Disease: Vision Disability
Vision Disability 		6 0 1 0.17 0 0
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		7 0 1 0.14 0 0
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		9 0 1 0.11 0 0
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		10 0 1 1.0E-01 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 6 1 9.1E-02 1 9.1E-02
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		12 0 1 8.3E-02 0 0
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		14 0 1 7.1E-02 0 0
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		18 0 1 5.6E-02 0 0
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		23 0 1 4.3E-02 0 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		25 0 1 4.0E-02 0 0
CUI: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation 		26 0 1 3.8E-02 0 0
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		27 0 1 3.7E-02 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 1 3.3E-02 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 3.2E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		32 0 1 3.1E-02 0 0
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 1 3.1E-02 0 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		35 0 1 2.9E-02 0 0