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: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		3 0 3 0.30 0 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening 		7 0 3 0.21 0 0
CUI: C1859361
Disease: Twelfth rib hypoplasia
Twelfth rib hypoplasia 		2 0 2 0.20 0 0
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal 		2 0 2 0.20 0 0
CUI: C4024621
Disease: Early ossification of capital femoral epiphyses
Early ossification of capital femoral epiphyses 		2 0 2 0.20 0 0
CUI: C4531024
Disease: Subretinal deposits
Subretinal deposits 		2 0 2 0.20 0 0
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		3 0 2 0.18 0 0
CUI: C2675973
Disease: Open operculum
Open operculum 		3 0 2 0.18 0 0
CUI: C4518774
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 		3 0 2 0.18 0 0
CUI: C0263417
Disease: Cutis verticis gyrata
Cutis verticis gyrata 		4 0 2 0.17 0 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle 		4 0 2 0.17 0 0
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		4 0 2 0.17 0 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		4 0 2 0.17 0 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		6 0 2 0.14 0 0
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 2 0.13 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 2 0.13 0 0
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		7 0 2 0.13 0 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		16 0 3 0.13 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 3 0.13 0 0
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base 		8 0 2 0.12 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		26 0 4 0.12 0 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		8 0 2 0.12 0 0
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		9 0 2 0.12 0 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		10 0 2 0.11 0 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		11 0 2 0.11 0 0