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: C1859361
Disease: Twelfth rib hypoplasia
Twelfth rib hypoplasia 		2 0 2 0.29 0 0
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal 		2 0 2 0.29 0 0
CUI: C4024621
Disease: Early ossification of capital femoral epiphyses
Early ossification of capital femoral epiphyses 		2 0 2 0.29 0 0
CUI: C4531024
Disease: Subretinal deposits
Subretinal deposits 		2 0 2 0.29 0 0
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		3 0 2 0.25 0 0
CUI: C2675973
Disease: Open operculum
Open operculum 		3 0 2 0.25 0 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		3 0 2 0.25 0 0
CUI: C4518774
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 		3 0 2 0.25 0 0
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		4 0 2 0.22 0 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		4 0 2 0.22 0 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		6 0 2 0.18 0 0
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 2 0.17 0 0
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		7 2 2 0.17 2 0.40
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening 		7 0 2 0.17 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 2 0.17 0 0
CUI: C0155930
Disease: Tooth Ankylosis
Tooth Ankylosis 		1 0 1 0.14 0 0
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		1 0 1 0.14 0 0
CUI: C0271869
Disease: Pseudohypoparathyroidism type I B
Pseudohypoparathyroidism type I B 		1 0 1 0.14 0 0
CUI: C0426801
Disease: Broad clavicle
Broad clavicle 		9 0 2 0.14 0 0
CUI: C0743924
Disease: Short fetal femur length
Short fetal femur length 		1 2 1 0.14 2 0.40
CUI: C1834993
Disease: Prominent supraorbital arches in adult
Prominent supraorbital arches in adult 		1 0 1 0.14 0 0
CUI: C1838779
Disease: Eiken Skeletal Dysplasia
Eiken Skeletal Dysplasia 		1 0 1 0.14 0 0
CUI: C1845019
Disease: Left ventricular septal hypertrophy
Left ventricular septal hypertrophy 		1 1 1 0.14 1 0.20
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 		1 0 1 0.14 0 0
CUI: C2673654
Disease: Rhizo-meso-acromelic limb shortening
Rhizo-meso-acromelic limb shortening 		1 2 1 0.14 2 0.40