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 2 0.67 4 0.50
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 2 0.67 4 0.50
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 0 1 0.50 0 0
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus 		1 1 1 0.50 1 0.20
CUI: C0544862
Disease: Neurocutaneous melanosis
Neurocutaneous melanosis 		1 1 1 0.50 1 0.20
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1 16 1 0.50 3 0.17
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		1 4 1 0.50 2 0.29
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		1 0 1 0.50 0 0
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC 		1 1 1 0.50 1 0.20
CUI: C3808548
Disease: Poor respiratory effort
Poor respiratory effort 		1 1 1 0.50 1 0.20
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE 		1 1 1 0.50 1 0.20
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC 		1 1 1 0.50 1 0.20
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
NEVUS SPILUS, SOMATIC 		1 1 1 0.50 1 0.20
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		6 17 2 0.33 3 0.16
CUI: C0030354
Disease: Papilloma
Papilloma 		2 2 1 0.33 1 0.17
CUI: C0040100
Disease: Thymoma
Thymoma 		2 0 1 0.33 0 0
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 2 0.33 4 0.15
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		2 2 1 0.33 1 0.17
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 2 0.33 4 0.22
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		2 0 1 0.33 0 0
CUI: C0343643
Disease: Facial wart
Facial wart 		2 0 1 0.33 0 0
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		2 7 1 0.33 1 9.1E-02
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		2 4 1 0.33 3 0.50
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		6 12 2 0.33 4 0.31
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		3 0 1 0.25 0 0