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: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 17 0.12 0 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 16 15 0.12 1 3.0E-02
CUI: C1843108
Disease: Short palm
Short palm 		110 0 23 0.12 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		26 7 14 0.11 4 0.19
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 0 29 0.11 0 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 0 13 0.11 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 2 16 0.11 1 5.3E-02
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 20 0.11 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 15 0.11 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 5 17 0.11 2 9.5E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 33 0.11 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 15 0.11 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 40 0.10 1 3.1E-02
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 17 0.10 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 28 0.10 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 40 0.10 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 35 0.10 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 18 9.9E-02 0 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 3 14 9.9E-02 1 5.0E-02
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 12 9.9E-02 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 16 9.9E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 35 9.7E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 26 9.7E-02 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 11 9.7E-02 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 0 24 9.7E-02 0 0