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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 48 0.10 2 3.4E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 31 0.10 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 28 9.9E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 36 9.8E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 54 9.7E-02 1 1.4E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 43 9.7E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 38 9.4E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 35 9.4E-02 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 32 9.4E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 32 9.0E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 58 8.9E-02 2 3.2E-02
CUI: C0578038
Disease: Thin lips
Thin lips 		99 0 18 8.9E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 32 8.6E-02 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 18 8.6E-02 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 22 8.5E-02 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 10 15 8.5E-02 1 5.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 48 8.4E-02 1 1.3E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 39 8.4E-02 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 20 8.3E-02 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 19 8.3E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 14 8.3E-02 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 0 13 8.3E-02 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 15 8.2E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 26 8.2E-02 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 19 15 8.2E-02 1 3.4E-02