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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 180 0.85 8 9.6E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 54 0.23 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 44 0.18 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 44 0.17 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 43 0.16 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 84 0.15 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 40 0.15 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 67 0.14 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 39 0.14 1 2.3E-02
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 33 0.13 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 39 0.13 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 34 0.13 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 58 0.13 0 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		67 0 31 0.13 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 29 0.13 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 30 0.13 1 1.9E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 45 0.12 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 44 0.12 0 0
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		82 0 31 0.12 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 43 0.12 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 29 0.12 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 56 0.12 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 26 0.12 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 18 37 0.12 1 2.3E-02
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 29 0.11 0 0