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: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 23 0.11 1 3.6E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 33 0.11 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 15 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 32 0.11 1 2.9E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 15 0.10 0 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		61 0 16 0.10 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 14 0.10 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 40 0.10 2 5.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 26 0.10 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 0 18 0.10 0 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 0 19 0.10 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 24 9.9E-02 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 26 9.8E-02 1 2.0E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 24 9.8E-02 1 2.5E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 14 9.7E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 19 9.6E-02 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 22 9.4E-02 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 17 9.3E-02 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 15 9.2E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 33 9.2E-02 4 0.14
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 6 22 9.1E-02 1 4.8E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 24 9.1E-02 1 2.6E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 25 9.1E-02 1 3.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 50 9.1E-02 2 2.6E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 44 9.1E-02 0 0