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: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 9 0.10 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 32 0.10 1 3.0E-02
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 18 9.9E-02 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 10 9.9E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 33 9.9E-02 1 3.8E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 20 9.8E-02 1 2.8E-02
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 9 9.8E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 15 9.6E-02 0 0
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		29 4 10 9.5E-02 1 7.1E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 34 9.5E-02 1 3.1E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 32 9.5E-02 2 4.2E-02
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 19 9.5E-02 1 4.2E-02
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 12 9.4E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 17 9.4E-02 1 3.0E-02
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 2 10 9.4E-02 1 8.3E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 27 9.4E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 58 9.4E-02 2 2.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 50 9.4E-02 2 2.5E-02
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		67 0 13 9.3E-02 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 10 9.2E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 43 9.1E-02 3 8.1E-02
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 14 9.0E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 34 9.0E-02 1 1.9E-02
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		35 0 10 9.0E-02 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 8 9.0E-02 0 0