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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
1 1 1 0.25 1 1.0E-02
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
1 0 1 0.25 0 0
CUI: C0037284
Disease: Skin lesion
Skin lesion
1 1 1 0.25 1 1.0E-02
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
1 1 1 0.25 1 1.0E-02
CUI: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers
1 0 1 0.25 0 0
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe
1 1 1 0.25 1 1.0E-02
CUI: C0221273
Disease: Juvenile polyp
Juvenile polyp
1 1 1 0.25 1 1.0E-02
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1 1 1 0.25 1 1.0E-02
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine
1 1 1 0.25 1 1.0E-02
CUI: C0343082
Disease: Senile angioma
Senile angioma
1 0 1 0.25 0 0
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass
1 0 1 0.25 0 0
CUI: C1262299
Disease: Oral wart
Oral wart
1 1 1 0.25 1 1.0E-02
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
1 0 1 0.25 0 0
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
1 21 1 0.25 9 8.2E-02
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: C0001202
Disease: Acrokeratosis
Acrokeratosis
2 0 1 0.20 0 0