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 0.57
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 2 0.67 4 0.57
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 0 1 0.50 0 0
CUI: C0239803
Disease: Red hair
Red hair 		1 0 1 0.50 0 0
CUI: C0271618
Disease: Delayed female puberty
Delayed female puberty 		1 0 1 0.50 0 0
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus 		1 1 1 0.50 1 0.25
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1 16 1 0.50 3 0.18
CUI: C1842881
Disease: Dilated aortic root
Dilated aortic root 		1 0 1 0.50 0 0
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		1 4 1 0.50 2 0.33
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC 		1 1 1 0.50 1 0.25
CUI: C3808548
Disease: Poor respiratory effort
Poor respiratory effort 		1 1 1 0.50 1 0.25
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		1 0 1 0.50 0 0
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE 		1 1 1 0.50 1 0.25
CUI: C4016403
Disease: BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC 		1 0 1 0.50 0 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		1 0 1 0.50 0 0
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC 		1 1 1 0.50 1 0.25
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
NEVUS SPILUS, SOMATIC 		1 1 1 0.50 1 0.25
CUI: C4302356
Disease: Primary low grade serous adenocarcinoma of ovary
Primary low grade serous adenocarcinoma of ovary 		1 1 1 0.50 1 0.25
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		2 0 1 0.33 0 0
CUI: C0030354
Disease: Papilloma
Papilloma 		2 2 1 0.33 1 0.20
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 0.16
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		2 0 1 0.33 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		2 2 1 0.33 1 0.20
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		2 0 1 0.33 0 0