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: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 7 27 0.84 7 0.70
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		10 15 7 0.23 3 0.14
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 0 4 0.14 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 3 6 0.12 1 8.3E-02
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		5 11 3 0.10 2 0.11
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 8 9.3E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 6 7.9E-02 0 0
CUI: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		4 0 2 6.9E-02 0 0
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		4 0 2 6.9E-02 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		6 0 2 6.5E-02 0 0
CUI: C0233769
Disease: Micropsia
Micropsia 		6 0 2 6.5E-02 0 0
CUI: C0233771
Disease: Macropsia
Macropsia 		6 0 2 6.5E-02 0 0
CUI: C3489704
Disease: Vision Disability
Vision Disability 		6 0 2 6.5E-02 0 0
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		7 0 2 6.2E-02 0 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		11 0 2 5.6E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 13 5.4E-02 0 0
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		12 0 2 5.4E-02 0 0
CUI: C3854603
Disease: FNAITP
FNAITP 		12 0 2 5.4E-02 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 3 5.1E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 3 4.7E-02 0 0
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		18 0 2 4.7E-02 0 0
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		22 0 2 4.3E-02 0 0
CUI: C0153467
Disease: Malignant tumor of peritoneum
Malignant tumor of peritoneum 		23 0 2 4.2E-02 0 0
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		23 0 2 4.2E-02 0 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		25 0 2 4.0E-02 0 0