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: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 11 0.15 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 13 0.14 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 19 16 0.12 1 3.8E-02
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 16 0.12 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 16 0.12 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 8 0.11 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 12 0.11 0 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		67 0 13 0.11 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 28 0.11 1 5.3E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 0 10 0.11 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 15 1.0E-01 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 14 9.9E-02 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 7 9.9E-02 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 18 12 9.7E-02 1 4.0E-02
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 7 9.5E-02 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 0 12 9.4E-02 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 7 9.3E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 10 9.3E-02 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 3 7 9.2E-02 1 1.0E-01
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 21 9.2E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 21 9.2E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 11 9.2E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 30 9.0E-02 0 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		41 0 9 8.9E-02 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 0 9 8.9E-02 0 0