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: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 26 180 0.85 8 9.6E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 45 0.20 2 2.9E-02
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 40 0.17 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 83 0.16 3 3.0E-02
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 38 0.16 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 38 0.15 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 40 0.15 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 66 0.15 4 3.8E-02
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 3 35 0.14 1 1.5E-02
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		67 0 31 0.14 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 35 0.13 1 1.2E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 56 0.13 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 30 0.13 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 27 0.13 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 43 0.13 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 30 0.13 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 42 0.12 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 55 0.12 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 27 0.12 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 7 27 0.12 2 2.9E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 40 0.12 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		40 0 24 0.12 0 0
CUI: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		22 0 22 0.12 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 26 0.12 2 2.2E-02
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 27 0.12 1 1.4E-02