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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 5 0.19 15 9.3E-02
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		7 34 5 0.18 17 0.10
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		21 142 7 0.17 63 0.27
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		15 76 6 0.17 31 0.16
CUI: C0025202
Disease: melanoma
melanoma 		25 129 7 0.16 17 6.4E-02
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 27 5 0.16 14 8.5E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 5 0.16 1 4.5E-03
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		4 11 4 0.15 11 7.2E-02
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		12 54 5 0.15 26 0.14
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 4 0.14 7 4.3E-02
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		6 12 4 0.14 6 3.8E-02
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		15 33 5 0.14 7 3.9E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 5 0.12 1 5.3E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		11 28 4 0.12 2 1.1E-02
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		11 34 4 0.12 6 3.3E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		11 19 4 0.12 7 4.3E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 7 0.12 39 7.1E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 24 5 0.12 2 1.1E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 3 0.12 5 3.2E-02
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		3 5 3 0.12 4 2.6E-02
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 3 0.12 5 3.2E-02
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 6 3 0.11 1 6.4E-03
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 3 0.11 3 1.4E-02
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		5 46 3 0.11 24 0.14
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		5 4 3 0.11 1 6.5E-03