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: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		6 17 4 0.17 8 5.6E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 4 0.17 7 4.6E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 4 0.17 5 3.4E-02
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 8 0.17 84 0.23
CUI: C0025202
Disease: melanoma
melanoma 		25 129 6 0.15 5 1.9E-02
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 80 5 0.14 14 7.0E-02
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		10 45 4 0.14 23 0.15
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		3 0 3 0.14 0 0
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		3 58 3 0.14 3 1.6E-02
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		3 5 3 0.14 3 2.2E-02
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 56 3 0.14 3 1.6E-02
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 56 3 0.14 3 1.6E-02
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 56 3 0.14 3 1.6E-02
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		3 56 3 0.14 3 1.6E-02
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 3 0.14 3 9.2E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		12 66 4 0.13 28 0.16
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 4 0.13 1 3.5E-03
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		12 54 4 0.13 36 0.24
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		4 98 3 0.13 4 1.7E-02
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		13 47 4 0.13 4 2.2E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		5 22 3 0.12 2 1.3E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 0 4 0.12 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 0 4 0.12 0 0
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		15 33 4 0.12 8 5.0E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		6 10 3 0.12 1 6.9E-03