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: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		1 1 1 1.00 1 1.00
CUI: C0578878
Disease: Inflammation of large intestine
Inflammation of large intestine 		1 1 1 1.00 1 1.00
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		1 11 1 1.00 1 9.1E-02
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		1 7 1 1.00 1 0.14
CUI: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		1 0 1 1.00 0 0
CUI: C2698310
Disease: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 		1 1 1 1.00 1 1.00
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		1 0 1 1.00 0 0
CUI: C0018932
Disease: Hematochezia
Hematochezia 		2 2 1 0.50 1 0.50
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		2 157 1 0.50 1 6.4E-03
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		2 4 1 0.50 1 0.25
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		2 0 1 0.50 0 0
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		2 3 1 0.50 1 0.33
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		2 0 1 0.50 0 0
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		3 5 1 0.33 1 0.20
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		3 0 1 0.33 0 0
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		3 3 1 0.33 1 0.33
CUI: C0009319
Disease: Colitis
Colitis 		4 6 1 0.25 1 0.17
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		4 20 1 0.25 1 5.0E-02
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		4 4 1 0.25 1 0.25
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		4 6 1 0.25 1 0.17
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		5 26 1 0.20 1 3.8E-02
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		5 0 1 0.20 0 0
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		5 0 1 0.20 0 0
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		5 6 1 0.20 1 0.17
CUI: C0024299
Disease: Lymphoma
Lymphoma 		6 10 1 0.17 1 1.0E-01