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: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
3 7 3 1.00 7 1.00
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
3 4 3 1.00 4 0.57
CUI: C0346099
Disease: Nevus spilus
Nevus spilus
2 0 2 0.67 0 0
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
3 5 2 0.50 4 0.50
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe
6 0 3 0.50 0 0
CUI: C4022025
Disease: Asymmetric growth
Asymmetric growth
6 0 3 0.50 0 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger
7 0 3 0.43 0 0
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
8 17 3 0.38 5 0.26
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
1 0 1 0.33 0 0
CUI: C0271618
Disease: Delayed female puberty
Delayed female puberty
1 0 1 0.33 0 0
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus
1 1 1 0.33 1 0.14
CUI: C0544862
Disease: Neurocutaneous melanosis
Neurocutaneous melanosis
1 1 1 0.33 1 0.14
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1 16 1 0.33 3 0.15
CUI: C1842881
Disease: Dilated aortic root
Dilated aortic root
1 0 1 0.33 0 0
CUI: C1858969
Disease: Decreased lymphocyte apoptosis
Decreased lymphocyte apoptosis
5 0 2 0.33 0 0
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
1 4 1 0.33 2 0.22
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
5 14 2 0.33 2 0.11
CUI: C2749369
Disease: Prominence of the premaxilla
Prominence of the premaxilla
5 0 2 0.33 0 0
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6
1 0 1 0.33 0 0
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
1 1 1 0.33 1 0.14
Numerous congenital melanocytic nevi
1 0 1 0.33 0 0
CUI: C3808548
Disease: Poor respiratory effort
Poor respiratory effort
1 1 1 0.33 1 0.14
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
1 9 1 0.33 1 6.7E-02
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE
1 1 1 0.33 1 0.14
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
1 0 1 0.33 0 0