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: C0549306
Disease: Mesomelia
Mesomelia 		27 4 15 0.22 2 0.25
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 27 0.20 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 22 0.18 2 0.20
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 3 23 0.18 1 0.12
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 10 0.17 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 14 0.16 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 17 0.16 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 16 0.16 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 23 0.16 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 12 0.15 2 0.22
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 19 0.14 0 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		25 0 10 0.14 0 0
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		17 0 9 0.14 0 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		18 0 9 0.14 0 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 9 0.13 0 0
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		22 0 9 0.13 0 0
CUI: C1832117
Disease: Short humerus
Short humerus 		24 0 9 0.12 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 14 0.12 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 5 12 0.12 2 0.22
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		20 0 8 0.12 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 7 0.11 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 11 0.11 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 17 0.11 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 9 0.11 0 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 7 0.11 0 0