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: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 48 0.12 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 63 0.12 3 6.2E-02
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 50 0.12 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 49 0.12 4 0.11
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 49 0.12 1 1.9E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 40 0.12 4 9.1E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 68 0.12 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 42 0.11 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 47 0.11 1 2.7E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 102 0.11 1 8.5E-03
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 53 0.11 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 43 0.11 3 5.8E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 54 0.11 2 5.3E-03
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 38 0.11 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 40 0.11 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 48 0.11 1 1.6E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 42 0.11 2 4.9E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 42 0.11 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 52 0.11 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 47 0.10 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 97 0.10 1 2.7E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 55 0.10 3 7.5E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 35 0.10 0 0
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 36 0.10 1 2.8E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 46 0.10 1 1.9E-02