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: C0016506
Disease: Foot Deformities
Foot Deformities 		66 5 7 5.9E-02 2 0.40
CUI: C0024003
Disease: Lordosis
Lordosis 		160 15 4 1.9E-02 2 0.13
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		649 224 5 7.1E-03 2 8.9E-03
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 1 8.8E-03 2 0.15
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 9 2.4E-02 2 4.7E-02
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		25 5 1 1.2E-02 2 0.40
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		6 3 1 1.5E-02 2 0.67
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 41 3.6E-02 2 6.8E-03
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 7 2.9E-02 2 3.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 6 9.8E-03 2 1.0E-02
CUI: C0549306
Disease: Mesomelia
Mesomelia 		27 4 3 3.6E-02 2 0.50
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 1.1E-02 2 5.4E-02
CUI: C0743924
Disease: Short fetal femur length
Short fetal femur length 		1 2 1 1.7E-02 2 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 4 2.8E-02 2 0.33
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		11 5 1 1.4E-02 2 0.40
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 12 2.5E-02 2 5.1E-02
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		9 3 1 1.5E-02 2 0.67
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 16 1 1.1E-02 2 0.12
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 2 1.1E-02 2 3.4E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 7 1.5E-02 2 5.7E-02
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 2 2 2.4E-02 2 1.00
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 3 3.3E-02 2 0.40
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 13 1 1.3E-02 2 0.15
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		7 2 1 1.5E-02 2 1.00
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 1 3.7E-03 2 8.0E-02