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: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 3 32 0.21 1 6.7E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 47 0.18 1 4.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 73 0.13 2 2.7E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 30 0.12 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 34 0.12 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 25 0.12 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 26 0.12 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 33 0.11 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 19 0.11 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 42 0.11 1 2.0E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 8 23 0.11 1 5.0E-02
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 5 27 0.11 1 5.9E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 71 0.11 3 4.8E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 0 31 0.11 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 48 0.11 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 37 0.10 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 18 0.10 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 35 0.10 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 7 17 0.10 1 5.3E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 49 0.10 5 8.8E-02
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 21 9.9E-02 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 31 22 9.9E-02 5 0.13
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 65 9.5E-02 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 37 9.5E-02 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 28 9.4E-02 1 4.2E-02