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: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		27 10 27 0.84 7 0.70
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		10 15 7 0.20 3 0.16
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 0 6 0.19 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 12 0.14 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 3 6 0.11 1 0.11
CUI: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		4 0 3 9.1E-02 0 0
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		4 0 3 9.1E-02 0 0
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		5 11 3 8.8E-02 2 0.12
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 7 8.7E-02 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		6 0 3 8.6E-02 0 0
CUI: C0233769
Disease: Micropsia
Micropsia 		6 0 3 8.6E-02 0 0
CUI: C0233771
Disease: Macropsia
Macropsia 		6 0 3 8.6E-02 0 0
CUI: C3489704
Disease: Vision Disability
Vision Disability 		6 0 3 8.6E-02 0 0
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		7 0 3 8.3E-02 0 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 0 3 8.3E-02 0 0
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		12 0 3 7.3E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 16 6.6E-02 0 0
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		18 0 3 6.4E-02 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 4 6.3E-02 0 0
CUI: C4476760
Disease: Visual fixation instability
Visual fixation instability 		3 0 2 6.1E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 4 5.9E-02 0 0
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		23 0 3 5.8E-02 0 0
CUI: C0270742
Disease: Athetoid cerebral palsy
Athetoid cerebral palsy 		8 0 2 5.3E-02 0 0
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		9 0 2 5.1E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		32 0 3 4.9E-02 0 0