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 12 8.2E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 4 0.17 8 5.0E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 4 0.17 6 3.9E-02
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		9 99 4 0.15 68 0.39
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 7 0.15 79 0.21
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		3 5 3 0.14 3 2.1E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 3 0.14 5 3.5E-02
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		3 7 3 0.14 2 1.4E-02
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		3 5 3 0.14 3 2.1E-02
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		11 30 4 0.14 11 6.8E-02
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 3 0.14 5 3.5E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 82 4 0.13 7 3.2E-02
CUI: C0025202
Disease: melanoma
melanoma 		25 129 5 0.12 10 3.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 5 0.11 9 9.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 6 0.10 23 0.11
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		11 28 3 0.10 1 5.9E-03
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		11 34 3 0.10 2 1.1E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 3 1.0E-01 1 3.4E-03
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		12 80 3 1.0E-01 44 0.25
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		12 54 3 1.0E-01 27 0.16
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		2 4 2 9.5E-02 3 2.1E-02
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		2 5 2 9.5E-02 4 2.8E-02
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		2 4 2 9.5E-02 3 2.1E-02
CUI: C4331262
Disease: Rosette-forming glioneuronal neoplasm
Rosette-forming glioneuronal neoplasm 		2 2 2 9.5E-02 1 7.0E-03
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		15 33 3 9.1E-02 3 1.7E-02