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: C0221217
Disease: Neck webbing
Neck webbing 		78 19 39 0.31 1 3.4E-02
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 30 0.24 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 17 0.19 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 17 0.19 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 19 0.18 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 56 0.18 2 5.3E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 17 0.18 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 22 0.16 3 0.12
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 18 0.16 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 14 0.16 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 20 0.16 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 16 0.16 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 18 0.16 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 23 0.16 1 5.1E-03
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 24 0.15 3 0.11
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 17 0.15 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 14 0.15 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 14 0.14 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 17 0.14 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 14 0.14 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 28 0.14 3 0.14
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 24 0.14 2 8.0E-02
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 14 0.14 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 14 0.14 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 37 0.14 1 3.4E-02