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: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 16 15 4.4E-02 9 0.18
CUI: C1854912
Disease: Short long bone
Short long bone 		42 19 29 8.6E-02 7 0.13
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		8 13 4 1.2E-02 6 0.12
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 39 0.11 7 0.11
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 48 9.8E-02 5 7.9E-02
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		38 13 14 4.0E-02 4 7.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 106 0.16 5 7.5E-02
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		11 5 3 9.0E-03 3 6.7E-02
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		24 5 7 2.0E-02 3 6.7E-02
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 7 7 2.0E-02 3 6.4E-02
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 8 25 6.3E-02 3 6.2E-02
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		17 8 4 1.2E-02 3 6.2E-02
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		1 8 1 3.1E-03 3 6.2E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 28 7.0E-02 3 6.0E-02
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		120 11 19 4.5E-02 3 5.9E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 44 0.11 3 5.7E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 101 0.16 4 5.4E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 76 0.14 3 5.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 45 8.0E-02 4 5.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 114 0.23 4 5.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 46 8.4E-02 7 4.9E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 25 6.1E-02 3 4.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 216 0.17 15 4.7E-02
CUI: C2673410
Disease: Small midface
Small midface 		23 24 8 2.4E-02 3 4.7E-02
CUI: C0018564
Disease: Hand deformities
Hand deformities 		60 2 9 2.4E-02 2 4.7E-02