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: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 17 0.13 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 41 0.13 4 7.8E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 35 0.13 1 2.7E-02
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 10 0.13 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 10 0.13 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 13 0.12 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		71 0 16 0.12 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 15 14 0.11 2 6.2E-02
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 4 14 0.11 1 4.5E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 22 0.11 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 10 0.11 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 28 0.11 1 2.2E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 21 0.11 2 4.7E-02
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 13 0.11 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 13 0.11 0 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		52 0 12 0.10 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 17 1.0E-01 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 4 10 1.0E-01 2 9.5E-02
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 15 9.9E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 42 9.8E-02 2 3.0E-02
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		12 5 8 9.8E-02 1 4.3E-02
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		35 0 10 9.7E-02 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 17 9.2E-02 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 11 9.2E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 56 9.2E-02 2 2.1E-02