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: C3887929
Disease: DEAFNESS, AUTOSOMAL DOMINANT 27
DEAFNESS, AUTOSOMAL DOMINANT 27
1 0 1 0.50 0 0
CUI: C3891301
Disease: WILMS TUMOR, SUSCEPTIBILITY TO
WILMS TUMOR, SUSCEPTIBILITY TO
1 0 1 0.50 0 0
CUI: C4235577
Disease: response to bleomycin
response to bleomycin
1 0 1 0.50 0 0
CUI: C4539942
Disease: FIBROMATOSIS, GINGIVAL, 5
FIBROMATOSIS, GINGIVAL, 5
1 3 1 0.50 3 0.33
CUI: C0424492
Disease: Coarse features
Coarse features
2 0 1 0.33 0 0
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
2 30 1 0.33 5 0.15
CUI: C0178829
Disease: reproductive system disorder
reproductive system disorder
3 0 1 0.25 0 0
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle
4 2 1 0.20 1 1.0E-01
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix
4 0 1 0.20 0 0
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome
5 0 1 0.17 0 0
Pectus excavatum of inferior sternum
5 0 1 0.17 0 0
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
6 0 1 0.14 0 0
CUI: C3714934
Disease: MYOPATHY, MYOFIBRILLAR, 3
MYOPATHY, MYOFIBRILLAR, 3
7 0 1 0.12 0 0
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3
8 0 1 0.11 0 0
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival
20 0 2 1.0E-01 0 0
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome
9 0 1 1.0E-01 0 0
Congenital malformation syndromes associated with short stature
9 0 1 1.0E-01 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples
9 2 1 1.0E-01 1 1.0E-01
CUI: C3887611
Disease: Restlessness
Restlessness
9 0 1 1.0E-01 0 0
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry
10 0 1 9.1E-02 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
11 0 1 8.3E-02 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome
11 0 1 8.3E-02 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
11 0 1 8.3E-02 0 0
Leukocyte Adhesion Deficiency Type 3
11 0 1 8.3E-02 0 0
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms
12 0 1 7.7E-02 0 0