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: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 7 33 0.13 1 1.8E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 41 0.11 5 6.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 61 0.11 5 6.2E-02
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 28 0.11 1 1.7E-02
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 31 0.11 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 55 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 40 0.11 2 3.0E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 44 0.11 3 4.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 74 0.11 1 9.8E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 65 0.10 8 7.1E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 41 0.10 1 1.5E-02
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 0 22 0.10 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 38 1.0E-01 1 1.3E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 52 9.9E-02 2 1.4E-02
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 24 9.9E-02 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 23 9.8E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 55 9.8E-02 7 8.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 44 9.7E-02 3 4.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 80 9.7E-02 6 4.5E-02
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 22 9.6E-02 2 3.8E-02
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 23 9.6E-02 2 3.8E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 21 34 9.6E-02 2 2.9E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 36 9.4E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 53 9.4E-02 5 3.8E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 103 9.4E-02 0 0