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: C0677861
Disease: Bilateral Malignant Neoplasm
Bilateral Malignant Neoplasm 		1 1 1 1.00 1 1.00
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma 		1 0 1 1.00 0 0
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma 		1 1 1 1.00 1 1.00
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		1 13 1 1.00 1 7.7E-02
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		1 0 1 1.00 0 0
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		1 1 1 1.00 1 1.00
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		1 0 1 1.00 0 0
CUI: C4551489
Disease: Ureter duplex
Ureter duplex 		1 1 1 1.00 1 1.00
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		2 0 1 0.50 0 0
CUI: C0266190
Disease: Congenital atresia of colon
Congenital atresia of colon 		2 3 1 0.50 1 0.33
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		2 0 1 0.50 0 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		2 2 1 0.50 1 0.50
CUI: C4305467
Disease: Neuroendocrine tumor of pancreas
Neuroendocrine tumor of pancreas 		2 0 1 0.50 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		3 3 1 0.33 1 0.33
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		3 0 1 0.33 0 0
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		5 4 1 0.20 1 0.25
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		5 0 1 0.20 0 0
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		5 0 1 0.20 0 0
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		5 0 1 0.20 0 0
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		6 0 1 0.17 0 0
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		7 0 1 0.14 0 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		9 0 1 0.11 0 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		9 13 1 0.11 1 7.7E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 1 0.11 1 4.2E-02
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		9 0 1 0.11 0 0