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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		4 0 1 0.20 0 0
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		5 0 1 0.17 0 0
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		13 0 1 7.1E-02 0 0
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		2 0 1 0.33 0 0
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		7 0 1 0.12 0 0
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		5 0 1 0.17 0 0
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		11 0 1 8.3E-02 0 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		12 0 1 7.7E-02 0 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		1 0 1 0.50 0 0
CUI: C1334655
Disease: Mediastinal Germ Cell Tumor
Mediastinal Germ Cell Tumor 		2 0 1 0.33 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		2 0 1 0.33 0 0
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		3 0 1 0.25 0 0
CUI: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		1 0 1 0.50 0 0
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		1 0 1 0.50 0 0
CUI: C4013716
Disease: Small cell carcinoma of the ovary, hypercalcemic type
Small cell carcinoma of the ovary, hypercalcemic type 		1 0 1 0.50 0 0
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		6 0 1 0.14 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 6.2E-03 0 0
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		2 0 1 0.33 0 0
CUI: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 5 		1 0 1 0.50 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 0.50 1 6.4E-03
CUI: C0009319
Disease: Colitis
Colitis 		4 6 1 0.20 1 6.2E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 1 3.7E-02 1 5.2E-03
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 6 1 0.20 1 6.2E-03
CUI: C0018932
Disease: Hematochezia
Hematochezia 		2 2 1 0.33 1 6.3E-03