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: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 0 1 3.6E-02 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		8 0 1 1.0E-01 0 0
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		2 0 1 0.25 0 0
CUI: C0349661
Disease: Glial tumor of brain (disorder)
Glial tumor of brain (disorder) 		1 0 1 0.33 0 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		12 0 1 7.1E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.3E-03 0 0
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		2 0 1 0.25 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 2.4E-02 0 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		9 0 1 9.1E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.2E-02 0 0
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		5 0 1 0.14 0 0
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		3 0 1 0.20 0 0
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		5 0 1 0.14 0 0
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		11 0 2 0.17 0 0
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		17 0 1 5.3E-02 0 0
CUI: C4023192
Disease: Thyroid papillary adenoma
Thyroid papillary adenoma 		1 0 1 0.33 0 0
CUI: C4305467
Disease: Neuroendocrine tumor of pancreas
Neuroendocrine tumor of pancreas 		2 0 1 0.25 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 1 3.7E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.2E-03 1 4.0E-04
CUI: C0025202
Disease: melanoma
melanoma 		25 129 1 3.7E-02 1 4.2E-04
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1 129 1 0.33 1 4.2E-04
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 37 1 5.9E-02 1 4.3E-04
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		15 33 2 0.12 1 4.3E-04
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 		1 21 1 0.33 1 4.4E-04