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: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone 		4 0 4 0.40 0 0
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 4 0.31 0 0
CUI: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		3 0 3 0.30 0 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping 		5 0 3 0.25 0 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		7 0 3 0.21 0 0
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis 		7 0 3 0.21 0 0
CUI: C0265235
Disease: Marshall syndrome
Marshall syndrome 		2 0 2 0.20 0 0
CUI: C0432194
Disease: Schneckenbecken dysplasia
Schneckenbecken dysplasia 		2 0 2 0.20 0 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		8 0 3 0.20 0 0
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		2 0 2 0.20 0 0
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F 		9 0 3 0.19 0 0
CUI: C0155366
Disease: Vitreous degeneration
Vitreous degeneration 		3 0 2 0.18 0 0
CUI: C0265282
Disease: Fibrochondrogenesis
Fibrochondrogenesis 		3 0 2 0.18 0 0
CUI: C1848446
Disease: C1-C2 subluxation
C1-C2 subluxation 		3 0 2 0.18 0 0
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		3 0 2 0.18 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 4 0.18 0 0
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		10 0 3 0.18 0 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		18 0 4 0.17 0 0
CUI: C1849293
Disease: Advanced tarsal ossification
Advanced tarsal ossification 		4 0 2 0.17 0 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		25 0 5 0.17 0 0
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		4 0 2 0.17 0 0
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly 		5 0 2 0.15 0 0
CUI: C4021100
Disease: Increased fibular diameter
Increased fibular diameter 		5 0 2 0.15 0 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		6 0 2 0.14 0 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 3 0.14 0 0