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: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 46 0.16 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 43 0.15 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 38 0.14 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 34 0.14 0 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		62 0 20 0.13 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 25 0.13 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 25 0.12 0 0
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 0 26 0.12 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 0 32 0.12 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 1 15 0.12 1 0.20
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 26 0.12 0 0
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		54 0 17 0.11 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 14 0.11 0 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 0 15 0.11 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 14 0.11 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 42 0.11 1 2.1E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		190 75 29 0.11 1 1.3E-02
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 15 0.11 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 18 0.10 0 0
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		27 0 13 0.10 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 26 0.10 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 34 0.10 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 32 0.10 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 27 0.10 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 22 0.10 0 0