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: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 0 1 1.00 0 0
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus 		1 1 1 1.00 1 1.00
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1 16 1 1.00 1 6.2E-02
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		1 4 1 1.00 1 0.25
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC 		1 1 1 1.00 1 1.00
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE 		1 0 1 1.00 0 0
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC 		1 0 1 1.00 0 0
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
NEVUS SPILUS, SOMATIC 		1 0 1 1.00 0 0
CUI: C0030354
Disease: Papilloma
Papilloma 		2 2 1 0.50 1 0.50
CUI: C0040100
Disease: Thymoma
Thymoma 		2 0 1 0.50 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		2 2 1 0.50 1 0.50
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		2 0 1 0.50 0 0
CUI: C0343643
Disease: Facial wart
Facial wart 		2 0 1 0.50 0 0
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		2 7 1 0.50 1 0.14
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		2 5 1 0.50 1 0.20
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		2 4 1 0.50 1 0.25
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		3 0 1 0.33 0 0
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 1 0.33 1 0.14
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 1 0.33 1 0.14
CUI: C0002170
Disease: Alopecia
Alopecia 		5 0 1 0.20 0 0
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		5 8 1 0.20 1 0.12
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		6 17 1 0.17 1 5.9E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 1 0.17 1 4.0E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 1 0.17 1 5.9E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 0 1 0.17 0 0