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: C1854912
Disease: Short long bone
Short long bone 		42 19 12 0.21 2 8.3E-02
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 16 10 0.21 1 4.5E-02
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 13 0.18 3 9.7E-02
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 6 0.18 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 6 0.17 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 8 0.15 1 9.1E-02
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 6 0.15 0 0
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		22 0 6 0.14 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 108 5 0.14 1 8.8E-03
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 15 0.13 0 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		9 0 4 0.13 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 6 0.13 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 4 0.12 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 116 6 0.12 2 1.7E-02
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 6 0.12 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 5 0.12 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 5 0.12 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 8 0.12 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 7 0.11 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 14 0.11 4 0.19
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle 		14 0 4 0.11 0 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		25 0 5 0.11 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 12 0.11 0 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping 		5 0 3 0.11 0 0
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly 		5 0 3 0.11 0 0