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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
12 153 9 0.64 53 0.31
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
16 0 7 0.35 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
24 7 9 0.35 3 3.9E-02
Pectus excavatum of inferior sternum
5 0 4 0.33 0 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris
5 3 4 0.33 1 1.3E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
6 32 4 0.31 12 0.13
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 7 0.28 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
3 17 3 0.27 10 0.12
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines
13 9 5 0.26 9 0.12
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax
25 0 7 0.24 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen
26 0 7 0.23 0 0
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma
5 0 3 0.23 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum
5 0 3 0.23 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity
5 0 3 0.23 0 0
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
6 0 3 0.21 0 0
CUI: C0039103
Disease: Synovitis
Synovitis
6 0 3 0.21 0 0
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
6 53 3 0.21 21 0.20
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia
6 0 3 0.21 0 0
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2
6 12 3 0.21 1 1.2E-02
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 7 0.21 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic
36 0 8 0.21 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices
37 0 8 0.20 0 0
Aplasia/Hypoplasia of the abdominal wall musculature
32 0 7 0.19 0 0
CUI: C1849677
Disease: Numerous nevi
Numerous nevi
8 0 3 0.19 0 0
CUI: C0346099
Disease: Nevus spilus
Nevus spilus
2 0 2 0.18 0 0