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: C0575802
Disease: Small hand
Small hand 		108 31 23 0.10 1 2.9E-02
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 22 9.7E-02 0 0
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		31 0 15 9.7E-02 0 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		65 0 18 9.7E-02 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 22 9.6E-02 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 44 9.5E-02 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 19 9.3E-02 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 19 9.2E-02 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 19 27 9.2E-02 1 4.5E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 27 9.2E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 21 9.2E-02 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 21 9.1E-02 0 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		78 0 18 9.0E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 34 9.0E-02 0 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		67 0 17 9.0E-02 0 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		67 0 17 9.0E-02 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 20 9.0E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 33 8.9E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 57 8.9E-02 2 1.0E-02
CUI: C1853241
Disease: Flat face
Flat face 		83 0 18 8.8E-02 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 22 8.8E-02 1 5.9E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 30 8.7E-02 0 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		62 0 16 8.6E-02 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 20 8.5E-02 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 21 8.5E-02 0 0