Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
6 0 3 0.12 0 0
Hypoplasia involving bones of the upper limbs
9 0 3 0.11 0 0
Impaired visuospatial constructive cognition
15 0 3 8.8E-02 0 0
CUI: C1335411
Disease: Cyst of pineal gland
Cyst of pineal gland
3 0 2 8.7E-02 0 0
CUI: C1844734
Disease: Hemihypotrophy of lower limb
Hemihypotrophy of lower limb
3 0 2 8.7E-02 0 0
Progressive conductive hearing impairment
3 0 2 8.7E-02 0 0
CUI: C1839798
Disease: Long nose
Long nose
29 0 4 8.5E-02 0 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
42 0 5 8.5E-02 0 0
Patent ductus arteriosus after birth at term
4 0 2 8.3E-02 0 0
CUI: C0426816
Disease: Absence of rib
Absence of rib
18 1 3 8.1E-02 1 1.0E-01
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
45 7 5 8.1E-02 2 0.13
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome
5 0 2 8.0E-02 0 0
Pectus excavatum of inferior sternum
5 0 2 8.0E-02 0 0
Noonan syndrome-like disorder with loose anagen hair
19 0 3 7.9E-02 0 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases
19 0 3 7.9E-02 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia
20 0 3 7.7E-02 0 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux
6 0 2 7.7E-02 0 0
CUI: C1867131
Disease: Broad hallux
Broad hallux
48 0 5 7.7E-02 0 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
35 0 4 7.5E-02 0 0
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland
7 0 2 7.4E-02 0 0
Noonan-Like Syndrome With Loose Anagen Hair
22 0 3 7.3E-02 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease
23 0 3 7.1E-02 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
86 11 7 6.9E-02 2 0.11
Congenital malformation syndromes associated with short stature
9 0 2 6.9E-02 0 0
CUI: C1398312
Disease: Narrow palate
Narrow palate
40 0 4 6.9E-02 0 0