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 11 1.00 0 0
Noonan syndrome-like disorder with loose anagen hair
19 0 10 0.50 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
23 0 11 0.48 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
11 0 7 0.47 0 0
Noonan-Like Syndrome With Loose Anagen Hair
22 0 10 0.43 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
6 0 5 0.42 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines
13 0 7 0.41 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
28 0 10 0.34 0 0
Pectus excavatum of inferior sternum
5 0 4 0.33 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
24 0 8 0.30 0 0
Functional abnormality of the gastrointestinal tract
7 0 4 0.29 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
16 0 6 0.29 0 0
CUI: C0346099
Disease: Nevus spilus
Nevus spilus
3 0 3 0.27 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease
23 0 7 0.26 0 0
Congenital malformation syndromes associated with short stature
9 0 4 0.25 0 0
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
9 0 4 0.25 0 0
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry
10 0 4 0.24 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
47 0 11 0.23 0 0
Inflammatory linear verrucous epidermal nevus
5 0 3 0.23 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 6 0.23 0 0
CUI: C1511104
Disease: Benign Struma Ovarii
Benign Struma Ovarii
5 0 3 0.23 0 0
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
5 0 3 0.23 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum
5 0 3 0.23 0 0
CUI: C3179502
Disease: Linear Verrucous Epidermal Nevus
Linear Verrucous Epidermal Nevus
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