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: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		4 0 3 0.60 0 0
CUI: C2676466
Disease: Pontocerebellar Hypoplasia Type 2B
Pontocerebellar Hypoplasia Type 2B 		2 8 2 0.50 1 5.6E-02
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		6 0 3 0.43 0 0
CUI: C0233769
Disease: Micropsia
Micropsia 		6 0 3 0.43 0 0
CUI: C0233771
Disease: Macropsia
Macropsia 		6 0 3 0.43 0 0
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 1 3 0.43 1 9.1E-02
CUI: C3489704
Disease: Vision Disability
Vision Disability 		6 0 3 0.43 0 0
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		1 6 1 0.25 5 0.42
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		1 2 1 0.25 1 8.3E-02
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		1 1 1 0.25 1 9.1E-02
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		12 0 3 0.23 0 0
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		7 0 2 0.22 0 0
CUI: C4022154
Disease: Cerebellar hemisphere hypoplasia
Cerebellar hemisphere hypoplasia 		2 0 1 0.20 0 0
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		18 0 3 0.16 0 0
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		23 0 3 0.12 0 0
CUI: C1849146
Disease: Loss of Purkinje cells in the cerebellar vermis
Loss of Purkinje cells in the cerebellar vermis 		5 0 1 0.12 0 0
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 3 9.1E-02 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 3 8.3E-02 0 0
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		9 0 1 8.3E-02 0 0
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		10 0 1 7.7E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 3 7.3E-02 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 6 1 7.1E-02 1 6.2E-02
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		27 0 2 6.9E-02 0 0
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		43 0 3 6.8E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		32 0 2 5.9E-02 0 0