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: C0239234
Disease: Low set ears
Low set ears 		489 64 138 0.26 5 6.1E-02
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 3 32 0.16 1 4.0E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 43 0.16 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 76 0.15 5 7.5E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 53 0.15 1 2.4E-02
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 7 36 0.15 1 3.4E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 60 0.15 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 75 0.14 1 1.9E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 56 0.14 2 4.0E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 53 0.14 1 2.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 92 0.14 4 4.2E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 72 0.14 2 3.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 91 0.14 1 1.3E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 41 0.13 2 6.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 100 0.12 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 51 0.12 4 6.9E-02
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 7 37 0.12 1 3.4E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 47 0.12 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 34 0.12 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 42 0.12 1 2.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 72 0.12 2 2.2E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 13 36 0.12 2 5.9E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 34 0.12 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 32 0.12 5 0.13
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 41 0.12 1 2.6E-02