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: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		4 0 3 0.12 0 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		11 0 3 9.7E-02 0 0
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		2 2 2 8.7E-02 1 0.25
CUI: C1859361
Disease: Twelfth rib hypoplasia
Twelfth rib hypoplasia 		2 0 2 8.7E-02 0 0
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal 		2 0 2 8.7E-02 0 0
CUI: C4024621
Disease: Early ossification of capital femoral epiphyses
Early ossification of capital femoral epiphyses 		2 0 2 8.7E-02 0 0
CUI: C4531024
Disease: Subretinal deposits
Subretinal deposits 		2 0 2 8.7E-02 0 0
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		3 0 2 8.3E-02 0 0
CUI: C2675973
Disease: Open operculum
Open operculum 		3 0 2 8.3E-02 0 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		3 0 2 8.3E-02 0 0
CUI: C4518774
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 		3 0 2 8.3E-02 0 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		17 0 3 8.1E-02 0 0
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		4 0 2 8.0E-02 0 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		4 0 2 8.0E-02 0 0
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		5 1 2 7.7E-02 1 0.33
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		5 1 2 7.7E-02 1 0.33
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia 		5 1 2 7.7E-02 1 0.33
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		6 0 2 7.4E-02 0 0
CUI: C1857045
Disease: Abnormality of the philtrum
Abnormality of the philtrum 		6 0 2 7.4E-02 0 0
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		21 5 3 7.3E-02 1 0.14
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 2 7.1E-02 0 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening 		7 0 2 7.1E-02 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 2 7.1E-02 0 0
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		7 0 2 7.1E-02 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 4 7.0E-02 1 4.8E-02