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: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
1 67 1 0.25 1 6.1E-03
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
1 5 1 0.25 2 2.0E-02
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2
1 5 1 0.25 5 5.1E-02
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
1 5 1 0.25 2 2.0E-02
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
1 8 1 0.25 2 1.9E-02
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
1 0 1 0.25 0 0
CUI: C4015136
Disease: Recurrent bronchiolitis
Recurrent bronchiolitis
1 0 1 0.25 0 0
CUI: C4531112
Disease: Penile freckling
Penile freckling
1 11 1 0.25 6 5.8E-02
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum
1 8 1 0.25 3 2.9E-02
CUI: C4749056
Disease: MACRODACTYLY, SOMATIC
MACRODACTYLY, SOMATIC
1 1 1 0.25 1 1.0E-02
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis
12 2 3 0.23 1 1.0E-02
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia
7 1 2 0.22 1 1.0E-02
CUI: C0001202
Disease: Acrokeratosis
Acrokeratosis
2 0 1 0.20 0 0
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps
2 2 1 0.20 1 1.0E-02
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
14 0 3 0.20 0 0
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
2 0 1 0.20 0 0
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology
2 0 1 0.20 0 0
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
8 17 2 0.20 1 8.8E-03
CUI: C0346170
Disease: Serous cystadenoma of ovary
Serous cystadenoma of ovary
2 0 1 0.20 0 0
CUI: C1265968
Disease: Hyperparakeratosis
Hyperparakeratosis
2 0 1 0.20 0 0
CUI: C1334655
Disease: Mediastinal Germ Cell Tumor
Mediastinal Germ Cell Tumor
2 2 1 0.20 1 1.0E-02
CUI: C1335168
Disease: Ovarian mucinous tumor
Ovarian mucinous tumor
2 1 1 0.20 1 1.0E-02
Type 1 Papillary Renal Cell Carcinoma
2 3 1 0.20 1 1.0E-02
VACTERL Association With Hydrocephalus
2 7 1 0.20 5 5.0E-02
CUI: C4021040
Disease: Freckled genitalia
Freckled genitalia
2 0 1 0.20 0 0