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: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		2 2 2 1.00 2 1.00
CUI: C0003081
Disease: Anisometropia
Anisometropia 		1 1 1 0.50 1 0.50
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota 		1 1 1 0.50 1 0.50
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		1 1 1 0.50 1 0.50
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		1 1 1 0.50 1 0.50
CUI: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers 		1 0 1 0.50 0 0
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe 		1 0 1 0.50 0 0
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		1 1 1 0.50 1 0.50
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		1 0 1 0.50 0 0
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine 		1 0 1 0.50 0 0
CUI: C0522035
Disease: Edema of the upper extremity
Edema of the upper extremity 		1 1 1 0.50 1 0.50
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		1 0 1 0.50 0 0
CUI: C1859882
Disease: Pigmentation of the sclera
Pigmentation of the sclera 		1 1 1 0.50 1 0.50
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity 		1 1 1 0.50 1 0.50
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		1 0 1 0.50 0 0
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		1 0 1 0.50 0 0
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		1 0 1 0.50 0 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		1 0 1 0.50 0 0
CUI: C4024885
Disease: Macular hyperpigmented dermopathy
Macular hyperpigmented dermopathy 		1 1 1 0.50 1 0.50
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology 		1 1 1 0.50 1 0.50
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		1 0 1 0.50 0 0
CUI: C4749056
Disease: MACRODACTYLY, SOMATIC
MACRODACTYLY, SOMATIC 		1 0 1 0.50 0 0
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		2 3 1 0.33 1 0.25
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		2 0 1 0.33 0 0
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		2 0 1 0.33 0 0