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: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		5 11 3 0.25 3 0.13
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		27 10 7 0.23 3 0.14
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 7 7 0.20 3 0.16
CUI: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D 		2 0 2 0.20 0 0
CUI: C1843507
Disease: Hypoplasia of the ventral pons
Hypoplasia of the ventral pons 		1 0 1 1.0E-01 0 0
CUI: C1855905
Disease: Microbrachycephaly
Microbrachycephaly 		1 0 1 1.0E-01 0 0
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		1 0 1 1.0E-01 0 0
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		1 0 1 1.0E-01 0 0
CUI: C3554209
Disease: Congenital pontocerebellar hypoplasia type 8
Congenital pontocerebellar hypoplasia type 8 		1 0 1 1.0E-01 0 0
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		1 0 1 1.0E-01 0 0
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		1 0 1 1.0E-01 0 0
CUI: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		1 0 1 1.0E-01 0 0
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 0 1 1.0E-01 0 0
CUI: C4748934
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY 		1 0 1 1.0E-01 0 0
CUI: C0795832
Disease: Chromosome 9, tetrasomy 9p
Chromosome 9, tetrasomy 9p 		2 0 1 9.1E-02 0 0
CUI: C2673351
Disease: Paucity of anterior horn motor neurons
Paucity of anterior horn motor neurons 		2 1 1 9.1E-02 1 6.7E-02
CUI: C4022763
Disease: Elevated brain choline level by MRS
Elevated brain choline level by MRS 		2 0 1 9.1E-02 0 0
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		2 0 1 9.1E-02 0 0
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		2 0 1 9.1E-02 0 0
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		3 0 1 8.3E-02 0 0
CUI: C1862474
Disease: Decreased facial expression
Decreased facial expression 		3 0 1 8.3E-02 0 0
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		3 0 1 8.3E-02 0 0
CUI: C4324406
Disease: Cerebral volume loss
Cerebral volume loss 		3 0 1 8.3E-02 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 3 3 8.1E-02 1 5.9E-02
CUI: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		4 0 1 7.7E-02 0 0