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: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		3 58 3 0.75 56 0.56
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 56 3 0.75 56 0.57
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 56 3 0.75 56 0.57
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 56 3 0.75 56 0.57
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		3 56 3 0.75 56 0.57
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 3 0.75 63 0.28
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		2 3 2 0.50 2 2.0E-02
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 0 2 0.33 0 0
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		5 46 2 0.29 2 1.4E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 1 1 0.25 1 1.0E-02
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 0.25 0 0
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: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		1 5 1 0.25 5 5.1E-02
CUI: C0041657
Disease: Unconscious State
Unconscious State 		1 0 1 0.25 0 0
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: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		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: C0424939
Disease: Learning difficulties
Learning difficulties 		6 6 2 0.25 1 9.7E-03
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass 		1 0 1 0.25 0 0