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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 47 9.3E-02 1 2.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 24 9.3E-02 4 1.6E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 19 9.2E-02 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 18 16 9.2E-02 1 3.3E-02
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 17 9.2E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 52 9.2E-02 1 1.2E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 47 9.1E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 19 9.0E-02 2 6.5E-02
CUI: C0426415
Disease: Large nose
Large nose 		70 7 16 9.0E-02 1 5.3E-02
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		46 0 14 9.0E-02 0 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		46 0 14 9.0E-02 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 18 9.0E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 18 9.0E-02 2 9.1E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 22 8.9E-02 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 18 8.9E-02 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 23 8.9E-02 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 13 8.8E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 24 8.7E-02 1 2.9E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 30 8.7E-02 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 13 8.7E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 28 8.6E-02 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 24 8.5E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 23 8.5E-02 2 3.1E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 23 8.5E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 43 8.4E-02 1 1.2E-02