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: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		3 0 2 0.13 0 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		12 0 3 0.13 0 0
CUI: C0001079
Disease: Achondrogenesis
Achondrogenesis 		4 0 2 0.12 0 0
CUI: C0263417
Disease: Cutis verticis gyrata
Cutis verticis gyrata 		4 0 2 0.12 0 0
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		22 0 4 0.12 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 2 0.12 0 0
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology 		4 0 2 0.12 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 8 0.12 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 0 4 0.12 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 6 0.12 0 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping 		5 0 2 0.12 0 0
CUI: C1838186
Disease: Squared iliac bones
Squared iliac bones 		6 0 2 0.11 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 0.11 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 0 7 0.11 0 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		17 0 3 0.11 0 0
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		17 0 3 0.11 0 0
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		7 0 2 0.11 0 0
CUI: C1856912
Disease: Shortening of all middle phalanges of the fingers
Shortening of all middle phalanges of the fingers 		7 0 2 0.11 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 2 0.11 0 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		18 0 3 0.10 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 11 0.10 0 0
CUI: C0085700
Disease: Chondromalacia
Chondromalacia 		8 0 2 1.0E-01 0 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		8 0 2 1.0E-01 0 0
CUI: C4082167
Disease: Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome 		8 0 2 1.0E-01 0 0
CUI: C0426818
Disease: Thin rib
Thin rib 		42 0 5 9.8E-02 0 0