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: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers 		1 0 1 1.00 0 0
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe 		1 0 1 1.00 0 0
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		1 1 1 1.00 1 0.12
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine 		1 1 1 1.00 1 0.12
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		1 0 1 1.00 0 0
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		1 5 1 1.00 1 8.3E-02
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		1 5 1 1.00 1 8.3E-02
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		1 1 1 1.00 1 0.12
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		1 0 1 1.00 0 0
CUI: C4749056
Disease: MACRODACTYLY, SOMATIC
MACRODACTYLY, SOMATIC 		1 0 1 1.00 0 0
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		2 5 1 0.50 1 8.3E-02
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		2 3 1 0.50 1 1.0E-01
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		2 0 1 0.50 0 0
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		2 0 1 0.50 0 0
CUI: C4331262
Disease: Rosette-forming glioneuronal neoplasm
Rosette-forming glioneuronal neoplasm 		2 0 1 0.50 0 0
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		3 0 1 0.33 0 0
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		3 0 1 0.33 0 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		3 0 1 0.33 0 0
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 0 1 0.33 0 0
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 0 1 0.33 0 0
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		3 9 1 0.33 1 6.2E-02
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 0 1 0.33 0 0
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		3 0 1 0.33 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 0 1 0.33 0 0
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		4 98 1 0.25 2 1.9E-02