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: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
16 0 14 0.37 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
40 0 19 0.33 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax
25 0 15 0.33 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 14 0.33 0 0
Noonan syndrome-like disorder with loose anagen hair
19 0 13 0.31 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen
26 0 14 0.29 0 0
Noonan-Like Syndrome With Loose Anagen Hair
22 0 13 0.29 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 14 0.27 0 0
Aplasia/Hypoplasia of the abdominal wall musculature
32 0 14 0.26 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices
37 0 15 0.26 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
28 0 13 0.25 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 15 0.23 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic
43 0 14 0.22 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
50 0 14 0.19 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
47 0 13 0.19 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold
58 0 14 0.17 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
59 0 14 0.17 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair
60 0 14 0.17 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
67 0 15 0.17 0 0
CUI: C0024236
Disease: Lymphedema
Lymphedema
61 0 14 0.17 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
23 83 8 0.16 1 1.2E-02
Congenital malformation syndromes associated with short stature
9 0 6 0.15 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
24 0 8 0.15 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing
78 0 15 0.15 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
71 0 14 0.15 0 0