Source: CLINVAR ×
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: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		2 5 2 0.67 4 0.50
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		2 4 2 0.67 4 0.57
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 3 0.50 6 0.23
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 3 0.50 5 0.26
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 0 1 0.33 0 0
CUI: C0239803
Disease: Red hair
Red hair 		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: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		1 4 1 0.33 2 0.22
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		5 14 2 0.33 2 0.11
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		1 0 1 0.33 0 0
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC 		1 1 1 0.33 1 0.14
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
CUI: C4016403
Disease: BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC 		1 0 1 0.33 0 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		1 0 1 0.33 0 0
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC 		1 1 1 0.33 1 0.14
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
NEVUS SPILUS, SOMATIC 		1 1 1 0.33 1 0.14
CUI: C4302356
Disease: Primary low grade serous adenocarcinoma of ovary
Primary low grade serous adenocarcinoma of ovary 		1 1 1 0.33 1 0.14
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		6 17 2 0.29 3 0.14